ClinVar Miner

List of variants in gene CACNA2D4 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 702
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207 0.00615
NM_172364.5(CACNA2D4):c.*583G>C rs185774215 0.00220
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_172364.5(CACNA2D4):c.-54G>A rs184264198 0.00163
NM_172364.5(CACNA2D4):c.*1200C>T rs527521690 0.00084
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_172364.5(CACNA2D4):c.1218C>T (p.Gly406=) rs200027649 0.00075
NM_172364.5(CACNA2D4):c.2634G>A (p.Pro878=) rs375552481 0.00074
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_172364.5(CACNA2D4):c.*18T>G rs182021586 0.00042
NM_172364.5(CACNA2D4):c.2190G>A (p.Ala730=) rs200973567 0.00042
NM_172364.5(CACNA2D4):c.1633C>T (p.Pro545Ser) rs199622453 0.00038
NM_172364.5(CACNA2D4):c.3348A>T (p.Ser1116=) rs368886623 0.00038
NM_172364.5(CACNA2D4):c.*1271C>T rs562507767 0.00034
NM_172364.5(CACNA2D4):c.1562C>T (p.Thr521Met) rs376351407 0.00032
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783 0.00030
NM_172364.5(CACNA2D4):c.2307C>A (p.Ser769Arg) rs201035458 0.00029
NM_172364.5(CACNA2D4):c.2623G>A (p.Val875Met) rs199781150 0.00024
NM_172364.5(CACNA2D4):c.*1177G>A rs556623869 0.00022
NM_172364.5(CACNA2D4):c.1216G>A (p.Gly406Ser) rs375148197 0.00020
NM_172364.5(CACNA2D4):c.1693C>T (p.Leu565Phe) rs749023533 0.00019
NM_172364.5(CACNA2D4):c.2810A>C (p.Tyr937Ser) rs374605537 0.00019
NM_172364.5(CACNA2D4):c.3323A>C (p.Asp1108Ala) rs201175802 0.00019
NM_172364.5(CACNA2D4):c.2523C>T (p.Thr841=) rs377756881 0.00017
NM_172364.5(CACNA2D4):c.2246+11G>A rs779480579 0.00016
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_172364.5(CACNA2D4):c.2170C>T (p.Arg724Trp) rs371178386 0.00015
NM_172364.5(CACNA2D4):c.2524G>A (p.Val842Met) rs200977656 0.00015
NM_172364.5(CACNA2D4):c.*1613T>C rs767458623 0.00014
NM_172364.5(CACNA2D4):c.748G>C (p.Gly250Arg) rs373534759 0.00013
NM_172364.5(CACNA2D4):c.1361C>T (p.Thr454Met) rs138567080 0.00011
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_172364.5(CACNA2D4):c.1865C>T (p.Pro622Leu) rs201053252 0.00011
NM_172364.5(CACNA2D4):c.197C>T (p.Ala66Val) rs368680577 0.00011
NM_172364.5(CACNA2D4):c.2047G>A (p.Gly683Ser) rs202195511 0.00011
NM_172364.5(CACNA2D4):c.2089C>T (p.Arg697Trp) rs369242248 0.00011
NM_172364.5(CACNA2D4):c.2515G>T (p.Ala839Ser) rs756604812 0.00011
NM_172364.5(CACNA2D4):c.3208G>A (p.Glu1070Lys) rs557723623 0.00011
NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln) rs200563551 0.00011
NM_172364.5(CACNA2D4):c.*1497G>C rs188409584 0.00010
NM_172364.5(CACNA2D4):c.892G>A (p.Val298Met) rs371792930 0.00010
NM_172364.5(CACNA2D4):c.1450G>A (p.Asp484Asn) rs376591807 0.00009
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_172364.5(CACNA2D4):c.2688C>T (p.Asn896=) rs755996321 0.00009
NM_172364.5(CACNA2D4):c.318G>A (p.Lys106=) rs528334716 0.00009
NM_172364.5(CACNA2D4):c.1219G>A (p.Ala407Thr) rs755825391 0.00008
NM_172364.5(CACNA2D4):c.1636C>T (p.Arg546Trp) rs377191684 0.00008
NM_172364.5(CACNA2D4):c.1969G>A (p.Gly657Arg) rs369030024 0.00008
NM_172364.5(CACNA2D4):c.2030C>G (p.Pro677Arg) rs375447801 0.00008
NM_172364.5(CACNA2D4):c.2608C>T (p.Arg870Trp) rs778241147 0.00008
NM_172364.5(CACNA2D4):c.*1632G>A rs867293238 0.00007
NM_172364.5(CACNA2D4):c.1368C>T (p.Ile456=) rs745670628 0.00007
NM_172364.5(CACNA2D4):c.1373C>T (p.Thr458Met) rs373696894 0.00007
NM_172364.5(CACNA2D4):c.2365G>A (p.Glu789Lys) rs199886801 0.00007
NM_172364.5(CACNA2D4):c.2498C>T (p.Thr833Met) rs532757608 0.00007
NM_172364.5(CACNA2D4):c.255C>T (p.Gly85=) rs375466678 0.00007
NM_172364.5(CACNA2D4):c.3041A>G (p.Glu1014Gly) rs745321584 0.00007
NM_172364.5(CACNA2D4):c.*425G>A rs886049120 0.00006
NM_172364.5(CACNA2D4):c.1213G>A (p.Asp405Asn) rs201648165 0.00006
NM_172364.5(CACNA2D4):c.1496C>T (p.Ser499Leu) rs375121955 0.00006
NM_172364.5(CACNA2D4):c.1714C>A (p.Pro572Thr) rs754970682 0.00006
NM_172364.5(CACNA2D4):c.2470G>A (p.Glu824Lys) rs757794851 0.00006
NM_172364.5(CACNA2D4):c.2674G>A (p.Val892Ile) rs778535256 0.00006
NM_172364.5(CACNA2D4):c.2793-3C>T rs757444091 0.00006
NM_172364.5(CACNA2D4):c.3334G>A (p.Ala1112Thr) rs755690994 0.00006
NM_172364.5(CACNA2D4):c.514_515dup (p.Asn172fs) rs757486215 0.00006
NM_172364.5(CACNA2D4):c.911G>A (p.Gly304Glu) rs374471043 0.00006
NM_172364.5(CACNA2D4):c.1442A>G (p.His481Arg) rs372289307 0.00005
NM_172364.5(CACNA2D4):c.1876G>A (p.Gly626Arg) rs370865813 0.00005
NM_172364.5(CACNA2D4):c.2037G>C (p.Leu679=) rs149879416 0.00005
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_172364.5(CACNA2D4):c.2152T>G (p.Cys718Gly) rs759463194 0.00005
NM_172364.5(CACNA2D4):c.2260G>A (p.Val754Met) rs373032354 0.00005
NM_172364.5(CACNA2D4):c.2390G>A (p.Arg797His) rs764405009 0.00005
NM_172364.5(CACNA2D4):c.2554G>A (p.Ala852Thr) rs961730912 0.00005
NM_172364.5(CACNA2D4):c.2717G>A (p.Arg906Gln) rs189066664 0.00005
NM_172364.5(CACNA2D4):c.2921+1G>A rs202130308 0.00005
NM_172364.5(CACNA2D4):c.3309+6G>A rs778274349 0.00005
NM_172364.5(CACNA2D4):c.836G>A (p.Arg279His) rs769083357 0.00005
NM_172364.5(CACNA2D4):c.838G>A (p.Gly280Ser) rs774106563 0.00005
NM_172364.5(CACNA2D4):c.-151G>T rs749175092 0.00004
NM_172364.5(CACNA2D4):c.1227G>C (p.Glu409Asp) rs755093083 0.00004
NM_172364.5(CACNA2D4):c.1423C>T (p.Arg475Cys) rs755333586 0.00004
NM_172364.5(CACNA2D4):c.1497G>A (p.Ser499=) rs181731184 0.00004
NM_172364.5(CACNA2D4):c.1835C>T (p.Thr612Ile) rs757872180 0.00004
NM_172364.5(CACNA2D4):c.2008+4G>A rs1435126449 0.00004
NM_172364.5(CACNA2D4):c.2188G>A (p.Ala730Thr) rs368331985 0.00004
NM_172364.5(CACNA2D4):c.227+1G>A rs530684887 0.00004
NM_172364.5(CACNA2D4):c.2321G>C (p.Gly774Ala) rs373327688 0.00004
NM_172364.5(CACNA2D4):c.2356C>G (p.Pro786Ala) rs756041059 0.00004
NM_172364.5(CACNA2D4):c.2374G>A (p.Val792Met) rs200749936 0.00004
NM_172364.5(CACNA2D4):c.2470+12C>T rs769265675 0.00004
NM_172364.5(CACNA2D4):c.2490G>A (p.Met830Ile) rs576179739 0.00004
NM_172364.5(CACNA2D4):c.2552-1G>A rs920314861 0.00004
NM_172364.5(CACNA2D4):c.2609G>A (p.Arg870Gln) rs754714905 0.00004
NM_172364.5(CACNA2D4):c.2650G>A (p.Glu884Lys) rs368718572 0.00004
NM_172364.5(CACNA2D4):c.2800A>G (p.Met934Val) rs535130457 0.00004
NM_172364.5(CACNA2D4):c.2868C>T (p.Ser956=) rs775565288 0.00004
NM_172364.5(CACNA2D4):c.3146A>C (p.Asn1049Thr) rs773902275 0.00004
NM_172364.5(CACNA2D4):c.3310-5C>A rs373399976 0.00004
NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=) rs371916321 0.00004
NM_172364.5(CACNA2D4):c.375G>T (p.Lys125Asn) rs369268682 0.00004
NM_172364.5(CACNA2D4):c.427-1G>A rs770576741 0.00004
NM_172364.5(CACNA2D4):c.486+1G>A rs753550788 0.00004
NM_172364.5(CACNA2D4):c.526G>A (p.Glu176Lys) rs568920380 0.00004
NM_172364.5(CACNA2D4):c.695C>A (p.Ala232Asp) rs575121425 0.00004
NM_172364.5(CACNA2D4):c.898G>A (p.Gly300Ser) rs753108402 0.00004
NM_172364.5(CACNA2D4):c.*1488C>T rs886049114 0.00003
NM_172364.5(CACNA2D4):c.1006G>A (p.Val336Ile) rs201441835 0.00003
NM_172364.5(CACNA2D4):c.1042G>A (p.Val348Ile) rs773531067 0.00003
NM_172364.5(CACNA2D4):c.1063C>T (p.Arg355Ter) rs369451253 0.00003
NM_172364.5(CACNA2D4):c.1256A>G (p.Asn419Ser) rs200395562 0.00003
NM_172364.5(CACNA2D4):c.1277G>A (p.Arg426Gln) rs772210135 0.00003
NM_172364.5(CACNA2D4):c.1379C>T (p.Ala460Val) rs1173208667 0.00003
NM_172364.5(CACNA2D4):c.1414G>A (p.Val472Met) rs376796899 0.00003
NM_172364.5(CACNA2D4):c.1523C>A (p.Thr508Asn) rs769190279 0.00003
NM_172364.5(CACNA2D4):c.1916C>T (p.Thr639Met) rs368279074 0.00003
NM_172364.5(CACNA2D4):c.2008G>A (p.Gly670Ser) rs769147960 0.00003
NM_172364.5(CACNA2D4):c.2407C>T (p.Arg803Cys) rs201050373 0.00003
NM_172364.5(CACNA2D4):c.2689G>A (p.Gly897Arg) rs368973969 0.00003
NM_172364.5(CACNA2D4):c.2714C>T (p.Ser905Phe) rs372942250 0.00003
NM_172364.5(CACNA2D4):c.2868+1G>A rs546379813 0.00003
NM_172364.5(CACNA2D4):c.2951C>T (p.Ser984Phe) rs747585848 0.00003
NM_172364.5(CACNA2D4):c.830G>A (p.Arg277Gln) rs1319340398 0.00003
NM_172364.5(CACNA2D4):c.986T>C (p.Ile329Thr) rs763532250 0.00003
NM_172364.5(CACNA2D4):c.*1364T>C rs886049115 0.00002
NM_172364.5(CACNA2D4):c.1049C>T (p.Ala350Val) rs200348756 0.00002
NM_172364.5(CACNA2D4):c.1064G>A (p.Arg355Gln) rs781209342 0.00002
NM_172364.5(CACNA2D4):c.1117G>A (p.Val373Met) rs377642699 0.00002
NM_172364.5(CACNA2D4):c.1238C>T (p.Pro413Leu) rs758961705 0.00002
NM_172364.5(CACNA2D4):c.1288T>C (p.Tyr430His) rs369528514 0.00002
NM_172364.5(CACNA2D4):c.1475T>C (p.Met492Thr) rs1053793366 0.00002
NM_172364.5(CACNA2D4):c.1558G>A (p.Glu520Lys) rs201110560 0.00002
NM_172364.5(CACNA2D4):c.1673A>G (p.Asn558Ser) rs770810242 0.00002
NM_172364.5(CACNA2D4):c.1694T>C (p.Leu565Pro) rs1171506507 0.00002
NM_172364.5(CACNA2D4):c.1711C>T (p.Arg571Trp) rs376257275 0.00002
NM_172364.5(CACNA2D4):c.1926C>T (p.Ser642=) rs773736333 0.00002
NM_172364.5(CACNA2D4):c.1940+1G>A rs1240311632 0.00002
NM_172364.5(CACNA2D4):c.1960C>T (p.Arg654Trp) rs754788510 0.00002
NM_172364.5(CACNA2D4):c.2158G>A (p.Glu720Lys) rs578029299 0.00002
NM_172364.5(CACNA2D4):c.2225C>T (p.Ala742Val) rs761969045 0.00002
NM_172364.5(CACNA2D4):c.2273C>A (p.Ala758Asp) rs1419484658 0.00002
NM_172364.5(CACNA2D4):c.2342+5G>T rs913808897 0.00002
NM_172364.5(CACNA2D4):c.2371A>G (p.Ser791Gly) rs766520376 0.00002
NM_172364.5(CACNA2D4):c.2477C>T (p.Ala826Val) rs552472772 0.00002
NM_172364.5(CACNA2D4):c.2601G>A (p.Ala867=) rs756554605 0.00002
NM_172364.5(CACNA2D4):c.2633C>T (p.Pro878Leu) rs774244840 0.00002
NM_172364.5(CACNA2D4):c.2783T>A (p.Val928Glu) rs886049125 0.00002
NM_172364.5(CACNA2D4):c.2801T>C (p.Met934Thr) rs756627323 0.00002
NM_172364.5(CACNA2D4):c.2888C>T (p.Thr963Met) rs371263217 0.00002
NM_172364.5(CACNA2D4):c.2921+3G>A rs773484873 0.00002
NM_172364.5(CACNA2D4):c.2T>A (p.Met1Lys) rs1026797698 0.00002
NM_172364.5(CACNA2D4):c.3033C>A (p.Cys1011Ter) rs768460488 0.00002
NM_172364.5(CACNA2D4):c.3274C>G (p.Arg1092Gly) rs199937116 0.00002
NM_172364.5(CACNA2D4):c.3338C>T (p.Ser1113Leu) rs200044179 0.00002
NM_172364.5(CACNA2D4):c.494A>G (p.Tyr165Cys) rs1212756503 0.00002
NM_172364.5(CACNA2D4):c.496T>G (p.Tyr166Asp) rs200408171 0.00002
NM_172364.5(CACNA2D4):c.823G>A (p.Asp275Asn) rs1283007098 0.00002
NM_172364.5(CACNA2D4):c.977T>C (p.Phe326Ser) rs750115751 0.00002
NM_172364.5(CACNA2D4):c.*1245T>A rs1449642983 0.00001
NM_172364.5(CACNA2D4):c.*513G>A rs886049119 0.00001
NM_172364.5(CACNA2D4):c.*73G>C rs549574707 0.00001
NM_172364.5(CACNA2D4):c.*783A>G rs886049118 0.00001
NM_172364.5(CACNA2D4):c.-118G>A rs914689714 0.00001
NM_172364.5(CACNA2D4):c.1168G>A (p.Ala390Thr) rs760431785 0.00001
NM_172364.5(CACNA2D4):c.116C>A (p.Pro39Gln) rs193295028 0.00001
NM_172364.5(CACNA2D4):c.1192C>T (p.Gln398Ter) rs771755048 0.00001
NM_172364.5(CACNA2D4):c.1228G>A (p.Asp410Asn) rs375756819 0.00001
NM_172364.5(CACNA2D4):c.1233C>T (p.Tyr411=) rs371892188 0.00001
NM_172364.5(CACNA2D4):c.1276C>T (p.Arg426Ter) rs764495319 0.00001
NM_172364.5(CACNA2D4):c.1322G>A (p.Arg441His) rs776428196 0.00001
NM_172364.5(CACNA2D4):c.133G>T (p.Ala45Ser) rs746387365 0.00001
NM_172364.5(CACNA2D4):c.1351+6T>C rs779530572 0.00001
NM_172364.5(CACNA2D4):c.1388A>T (p.Gln463Leu) rs201865553 0.00001
NM_172364.5(CACNA2D4):c.1502C>G (p.Ala501Gly) rs1184450922 0.00001
NM_172364.5(CACNA2D4):c.1504C>G (p.Gln502Glu) rs750636655 0.00001
NM_172364.5(CACNA2D4):c.152C>T (p.Ser51Leu) rs780865376 0.00001
NM_172364.5(CACNA2D4):c.153G>A (p.Ser51=) rs893406669 0.00001
NM_172364.5(CACNA2D4):c.1617G>C (p.Glu539Asp) rs767999612 0.00001
NM_172364.5(CACNA2D4):c.1631C>T (p.Ala544Val) rs766593449 0.00001
NM_172364.5(CACNA2D4):c.1637G>A (p.Arg546Gln) rs746491494 0.00001
NM_172364.5(CACNA2D4):c.1644+5G>A rs775640626 0.00001
NM_172364.5(CACNA2D4):c.1683T>C (p.Asn561=) rs886049129 0.00001
NM_172364.5(CACNA2D4):c.1702C>G (p.Pro568Ala) rs1441540477 0.00001
NM_172364.5(CACNA2D4):c.1705G>A (p.Asp569Asn) rs770007640 0.00001
NM_172364.5(CACNA2D4):c.1707C>G (p.Asp569Glu) rs990661571 0.00001
NM_172364.5(CACNA2D4):c.1719+4G>A rs150490866 0.00001
NM_172364.5(CACNA2D4):c.1720-3C>T rs758846394 0.00001
NM_172364.5(CACNA2D4):c.1753A>G (p.Asn585Asp) rs1414963762 0.00001
NM_172364.5(CACNA2D4):c.1806+1G>A rs1410249387 0.00001
NM_172364.5(CACNA2D4):c.1807C>T (p.Leu603=) rs1478923623 0.00001
NM_172364.5(CACNA2D4):c.1850T>C (p.Met617Thr) rs1865847914 0.00001
NM_172364.5(CACNA2D4):c.1883G>A (p.Arg628Gln) rs759766082 0.00001
NM_172364.5(CACNA2D4):c.1940+5G>A rs374475309 0.00001
NM_172364.5(CACNA2D4):c.1946G>A (p.Gly649Glu) rs1356863731 0.00001
NM_172364.5(CACNA2D4):c.2008+3G>A rs376601730 0.00001
NM_172364.5(CACNA2D4):c.2055-1G>A rs749463003 0.00001
NM_172364.5(CACNA2D4):c.2055-3C>T rs892437280 0.00001
NM_172364.5(CACNA2D4):c.2090G>A (p.Arg697Gln) rs577055633 0.00001
NM_172364.5(CACNA2D4):c.2134A>G (p.Lys712Glu) rs771911683 0.00001
NM_172364.5(CACNA2D4):c.2153-14T>A rs776534423 0.00001
NM_172364.5(CACNA2D4):c.2163G>C (p.Glu721Asp) rs776592012 0.00001
NM_172364.5(CACNA2D4):c.2171G>A (p.Arg724Gln) rs201084922 0.00001
NM_172364.5(CACNA2D4):c.2245G>A (p.Glu749Lys) rs571231247 0.00001
NM_172364.5(CACNA2D4):c.2247-1G>A rs377323654 0.00001
NM_172364.5(CACNA2D4):c.2257C>T (p.His753Tyr) rs201811189 0.00001
NM_172364.5(CACNA2D4):c.2288G>A (p.Arg763Gln) rs771472388 0.00001
NM_172364.5(CACNA2D4):c.2317G>A (p.Val773Met) rs745376472 0.00001
NM_172364.5(CACNA2D4):c.2396C>T (p.Pro799Leu) rs759276999 0.00001
NM_172364.5(CACNA2D4):c.2434A>G (p.Ser812Gly) rs1179769270 0.00001
NM_172364.5(CACNA2D4):c.2452C>T (p.Arg818Cys) rs919337671 0.00001
NM_172364.5(CACNA2D4):c.2453G>T (p.Arg818Leu) rs750502929 0.00001
NM_172364.5(CACNA2D4):c.2470+2T>C rs754314973 0.00001
NM_172364.5(CACNA2D4):c.2470+3A>G rs972139903 0.00001
NM_172364.5(CACNA2D4):c.2471-19G>T rs1003698868 0.00001
NM_172364.5(CACNA2D4):c.2489T>C (p.Met830Thr) rs1293713568 0.00001
NM_172364.5(CACNA2D4):c.252C>T (p.Phe84=) rs752598542 0.00001
NM_172364.5(CACNA2D4):c.2539G>A (p.Ala847Thr) rs753300736 0.00001
NM_172364.5(CACNA2D4):c.253G>A (p.Gly85Ser) rs555700156 0.00001
NM_172364.5(CACNA2D4):c.2552-3T>C rs754626893 0.00001
NM_172364.5(CACNA2D4):c.2560G>A (p.Val854Ile) rs777831879 0.00001
NM_172364.5(CACNA2D4):c.2566A>G (p.Met856Val) rs776233712 0.00001
NM_172364.5(CACNA2D4):c.2587C>T (p.Arg863Cys) rs775588255 0.00001
NM_172364.5(CACNA2D4):c.2615G>T (p.Cys872Phe) rs371675441 0.00001
NM_172364.5(CACNA2D4):c.2643G>C (p.Gln881His) rs1297124716 0.00001
NM_172364.5(CACNA2D4):c.2645G>C (p.Ser882Thr) rs536653523 0.00001
NM_172364.5(CACNA2D4):c.2659-3C>T rs976440572 0.00001
NM_172364.5(CACNA2D4):c.2705C>G (p.Ser902Cys) rs755274472 0.00001
NM_172364.5(CACNA2D4):c.2773A>G (p.Ser925Gly) rs1863330992 0.00001
NM_172364.5(CACNA2D4):c.2870C>T (p.Pro957Leu) rs886049124 0.00001
NM_172364.5(CACNA2D4):c.2882T>C (p.Phe961Ser) rs1363324409 0.00001
NM_172364.5(CACNA2D4):c.2913G>C (p.Glu971Asp) rs886049123 0.00001
NM_172364.5(CACNA2D4):c.2922-9G>A rs756341043 0.00001
NM_172364.5(CACNA2D4):c.2959G>A (p.Asp987Asn) rs950454471 0.00001
NM_172364.5(CACNA2D4):c.2971G>A (p.Glu991Lys) rs558680428 0.00001
NM_172364.5(CACNA2D4):c.2974+6T>C rs752382702 0.00001
NM_172364.5(CACNA2D4):c.3010A>C (p.Lys1004Gln) rs771505962 0.00001
NM_172364.5(CACNA2D4):c.310-8C>G rs931193038 0.00001
NM_172364.5(CACNA2D4):c.3141C>G (p.Asn1047Lys) rs1863102949 0.00001
NM_172364.5(CACNA2D4):c.3148C>T (p.Leu1050Phe) rs372492562 0.00001
NM_172364.5(CACNA2D4):c.316A>G (p.Lys106Glu) rs764637176 0.00001
NM_172364.5(CACNA2D4):c.3206A>T (p.Gln1069Leu) rs886049122 0.00001
NM_172364.5(CACNA2D4):c.3310-1G>A rs769856725 0.00001
NM_172364.5(CACNA2D4):c.3329G>A (p.Gly1110Asp) rs780254909 0.00001
NM_172364.5(CACNA2D4):c.3349del (p.Ala1117fs) rs775096534 0.00001
NM_172364.5(CACNA2D4):c.3357G>A (p.Pro1119=) rs761902357 0.00001
NM_172364.5(CACNA2D4):c.403C>T (p.Arg135Trp) rs779055186 0.00001
NM_172364.5(CACNA2D4):c.404G>A (p.Arg135Gln) rs753921645 0.00001
NM_172364.5(CACNA2D4):c.424C>T (p.Gln142Ter) rs776189698 0.00001
NM_172364.5(CACNA2D4):c.484G>A (p.Val162Met) rs369000151 0.00001
NM_172364.5(CACNA2D4):c.574A>G (p.Asn192Asp) rs1238886547 0.00001
NM_172364.5(CACNA2D4):c.577G>T (p.Ala193Ser) rs751002115 0.00001
NM_172364.5(CACNA2D4):c.649+5C>T rs370133531 0.00001
NM_172364.5(CACNA2D4):c.689T>G (p.Leu230Trp) rs773556893 0.00001
NM_172364.5(CACNA2D4):c.690G>C (p.Leu230Phe) rs770141721 0.00001
NM_172364.5(CACNA2D4):c.700T>C (p.Phe234Leu) rs1866687612 0.00001
NM_172364.5(CACNA2D4):c.703G>C (p.Val235Leu) rs187719227 0.00001
NM_172364.5(CACNA2D4):c.715C>T (p.Gln239Ter) rs757247321 0.00001
NM_172364.5(CACNA2D4):c.757A>G (p.Thr253Ala) rs751635362 0.00001
NM_172364.5(CACNA2D4):c.954G>A (p.Leu318=) rs752700351 0.00001
NM_172364.5(CACNA2D4):c.95G>A (p.Ser32Asn) rs1287644513 0.00001
NM_172364.5(CACNA2D4):c.992C>T (p.Ala331Val) rs1487120853 0.00001
NM_172364.5(CACNA2D4):c.993G>A (p.Ala331=) rs775365422 0.00001
NM_172364.5(CACNA2D4):c.997A>C (p.Asn333His) rs377754588 0.00001
GRCh37/hg19 12p13.33(chr12:1949889-1986237)
GRCh37/hg19 12p13.33(chr12:1949889-1986237)x1
GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1
GRCh37/hg19 12p13.33(chr12:2012665-2042878)x1
NC_000012.11:g.(?_1949885)_(1984523_?)del
NC_000012.11:g.(?_1963097)_(1965415_?)del
NC_000012.11:g.(?_1965330)_(1965415_?)dup
NC_000012.11:g.(?_1983750)_(1984523_?)del
NC_000012.11:g.(?_1983750)_(1989067_?)del
NC_000012.12:g.(?_1840739)_(1875337_?)del
NC_000012.12:g.1854039_1854046del rs769439847
NM_172364.5(CACNA2D4):c.*1114G>A rs567383410
NM_172364.5(CACNA2D4):c.*112C>T rs886049121
NM_172364.5(CACNA2D4):c.*1572G>C rs886049113
NM_172364.5(CACNA2D4):c.*1615G>C rs886049112
NM_172364.5(CACNA2D4):c.*1621G>C rs886049111
NM_172364.5(CACNA2D4):c.*1634A>T rs1862991606
NM_172364.5(CACNA2D4):c.*1690C>G rs533040733
NM_172364.5(CACNA2D4):c.*380C>G rs1863027110
NM_172364.5(CACNA2D4):c.*789A>G rs886049117
NM_172364.5(CACNA2D4):c.*954G>C rs886049116
NM_172364.5(CACNA2D4):c.-141C>A rs886049132
NM_172364.5(CACNA2D4):c.-7_12del (p.Met1fs) rs1867053357
NM_172364.5(CACNA2D4):c.1010A>G (p.His337Arg)
NM_172364.5(CACNA2D4):c.1013A>G (p.Tyr338Cys)
NM_172364.5(CACNA2D4):c.1020G>T (p.Glu340Asp) rs1866133788
NM_172364.5(CACNA2D4):c.1033G>A (p.Gly345Arg) rs2154449811
NM_172364.5(CACNA2D4):c.1037T>G (p.Ile346Ser)
NM_172364.5(CACNA2D4):c.1039C>A (p.Leu347Ile)
NM_172364.5(CACNA2D4):c.1051G>A (p.Asp351Asn)
NM_172364.5(CACNA2D4):c.1054C>T (p.Arg352Ter) rs747489303
NM_172364.5(CACNA2D4):c.1055G>A (p.Arg352Gln)
NM_172364.5(CACNA2D4):c.1068+3G>A rs751447536
NM_172364.5(CACNA2D4):c.1069-18A>G rs2154449764
NM_172364.5(CACNA2D4):c.1070A>G (p.His357Arg) rs1866103483
NM_172364.5(CACNA2D4):c.1076A>T (p.Lys359Ile)
NM_172364.5(CACNA2D4):c.1084G>C (p.Val362Leu)
NM_172364.5(CACNA2D4):c.1094T>C (p.Leu365Ser) rs758310447
NM_172364.5(CACNA2D4):c.109dup (p.Leu37fs)
NM_172364.5(CACNA2D4):c.10G>A (p.Gly4Ser)
NM_172364.5(CACNA2D4):c.1120G>A (p.Asp374Asn)
NM_172364.5(CACNA2D4):c.1145A>G (p.Gln382Arg) rs2154449755
NM_172364.5(CACNA2D4):c.1187G>C (p.Cys396Ser) rs1396665300
NM_172364.5(CACNA2D4):c.1195G>A (p.Ala399Thr) rs1866095778
NM_172364.5(CACNA2D4):c.1202T>C (p.Met401Thr)
NM_172364.5(CACNA2D4):c.120G>A (p.Met40Ile)
NM_172364.5(CACNA2D4):c.1213G>C (p.Asp405His)
NM_172364.5(CACNA2D4):c.1216G>T (p.Gly406Cys)
NM_172364.5(CACNA2D4):c.121C>A (p.Pro41Thr) rs1170423858
NM_172364.5(CACNA2D4):c.121C>G (p.Pro41Ala)
NM_172364.5(CACNA2D4):c.1222G>A (p.Val408Met)
NM_172364.5(CACNA2D4):c.1238C>A (p.Pro413Gln)
NM_172364.5(CACNA2D4):c.1238C>G (p.Pro413Arg)
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1244T>C (p.Phe415Ser)
NM_172364.5(CACNA2D4):c.124G>A (p.Val42Met)
NM_172364.5(CACNA2D4):c.124G>C (p.Val42Leu) rs776658230
NM_172364.5(CACNA2D4):c.1264G>A (p.Asp422Asn)
NM_172364.5(CACNA2D4):c.1265A>T (p.Asp422Val) rs1592733332
NM_172364.5(CACNA2D4):c.1272+11C>T rs1866092302
NM_172364.5(CACNA2D4):c.1272+13C>T rs529890510
NM_172364.5(CACNA2D4):c.1272+14G>A rs559637881
NM_172364.5(CACNA2D4):c.1272+1G>C rs1419761949
NM_172364.5(CACNA2D4):c.1272G>A (p.Lys424=) rs1329260082
NM_172364.5(CACNA2D4):c.1291C>T (p.Leu431Phe) rs370708521
NM_172364.5(CACNA2D4):c.1301G>T (p.Arg434Ile) rs773243066
NM_172364.5(CACNA2D4):c.1321C>G (p.Arg441Gly)
NM_172364.5(CACNA2D4):c.1321C>T (p.Arg441Cys) rs748328734
NM_172364.5(CACNA2D4):c.1331G>C (p.Trp444Ser)
NM_172364.5(CACNA2D4):c.1363C>T (p.Gln455Ter)
NM_172364.5(CACNA2D4):c.1379C>A (p.Ala460Glu) rs1173208667
NM_172364.5(CACNA2D4):c.137T>C (p.Phe46Ser) rs2154454176
NM_172364.5(CACNA2D4):c.138T>G (p.Phe46Leu)
NM_172364.5(CACNA2D4):c.1407C>G (p.Tyr469Ter) rs771184759
NM_172364.5(CACNA2D4):c.1413C>A (p.His471Gln) rs78872077
NM_172364.5(CACNA2D4):c.1414G>T (p.Val472Leu)
NM_172364.5(CACNA2D4):c.142C>A (p.Gln48Lys)
NM_172364.5(CACNA2D4):c.1430T>A (p.Met477Lys) rs778501555
NM_172364.5(CACNA2D4):c.1436T>C (p.Ile479Thr)
NM_172364.5(CACNA2D4):c.1444G>A (p.Asp482Asn) rs752639118
NM_172364.5(CACNA2D4):c.1469C>A (p.Ala490Asp)
NM_172364.5(CACNA2D4):c.1469C>T (p.Ala490Val)
NM_172364.5(CACNA2D4):c.1471T>C (p.Tyr491His)
NM_172364.5(CACNA2D4):c.1475T>A (p.Met492Lys)
NM_172364.5(CACNA2D4):c.1485+3G>A
NM_172364.5(CACNA2D4):c.154G>A (p.Ala52Thr)
NM_172364.5(CACNA2D4):c.1557C>G (p.Asn519Lys)
NM_172364.5(CACNA2D4):c.1563+11G>A rs141318501
NM_172364.5(CACNA2D4):c.1563+11G>T rs141318501
NM_172364.5(CACNA2D4):c.1563G>C (p.Thr521=) rs11062013
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)
NM_172364.5(CACNA2D4):c.1574G>A (p.Gly525Asp)
NM_172364.5(CACNA2D4):c.1576A>T (p.Ile526Phe) rs2154449441
NM_172364.5(CACNA2D4):c.1589_1593del (p.Val530fs) rs772592088
NM_172364.5(CACNA2D4):c.1600G>A (p.Asp534Asn)
NM_172364.5(CACNA2D4):c.1600G>C (p.Asp534His)
NM_172364.5(CACNA2D4):c.1613G>A (p.Arg538Lys)
NM_172364.5(CACNA2D4):c.1633C>A (p.Pro545Thr) rs199622453
NM_172364.5(CACNA2D4):c.1644+4_1644+5del
NM_172364.5(CACNA2D4):c.1644G>T (p.Lys548Asn)
NM_172364.5(CACNA2D4):c.1657G>A (p.Gly553Arg)
NM_172364.5(CACNA2D4):c.1663G>A (p.Ala555Thr) rs1347668261
NM_172364.5(CACNA2D4):c.1683T>G (p.Asn561Lys) rs886049129
NM_172364.5(CACNA2D4):c.1685G>A (p.Gly562Asp)
NM_172364.5(CACNA2D4):c.1705G>C (p.Asp569His)
NM_172364.5(CACNA2D4):c.1705G>T (p.Asp569Tyr)
NM_172364.5(CACNA2D4):c.1708C>A (p.Leu570Ile) rs2154449409
NM_172364.5(CACNA2D4):c.1711_1712insA (p.Arg571fs)
NM_172364.5(CACNA2D4):c.1712G>A (p.Arg571Gln)
NM_172364.5(CACNA2D4):c.1720-18C>G
NM_172364.5(CACNA2D4):c.1720-3C>A rs758846394
NM_172364.5(CACNA2D4):c.1721A>G (p.Tyr574Cys) rs1865861665
NM_172364.5(CACNA2D4):c.1724G>C (p.Arg575Thr) rs779454476
NM_172364.5(CACNA2D4):c.1726G>C (p.Glu576Gln) rs1555184488
NM_172364.5(CACNA2D4):c.1744C>T (p.Pro582Ser)
NM_172364.5(CACNA2D4):c.1759A>G (p.Asn587Asp)
NM_172364.5(CACNA2D4):c.1768G>T (p.Asp590Tyr)
NM_172364.5(CACNA2D4):c.1771C>G (p.Leu591Val)
NM_172364.5(CACNA2D4):c.1776del (p.Glu593fs) rs757752425
NM_172364.5(CACNA2D4):c.1777G>A (p.Glu593Lys)
NM_172364.5(CACNA2D4):c.1789G>A (p.Glu597Lys)
NM_172364.5(CACNA2D4):c.1792G>A (p.Asp598Asn) rs1338981399
NM_172364.5(CACNA2D4):c.1795C>G (p.Gln599Glu)
NM_172364.5(CACNA2D4):c.1798G>C (p.Ala600Pro)
NM_172364.5(CACNA2D4):c.1819A>G (p.Met607Val) rs1865848554
NM_172364.5(CACNA2D4):c.181A>C (p.Thr61Pro)
NM_172364.5(CACNA2D4):c.1822A>C (p.Ile608Leu) rs1326493528
NM_172364.5(CACNA2D4):c.1847C>T (p.Ser616Leu)
NM_172364.5(CACNA2D4):c.1856T>C (p.Val619Ala)
NM_172364.5(CACNA2D4):c.1859A>G (p.Lys620Arg)
NM_172364.5(CACNA2D4):c.1879-2A>G rs2154448553
NM_172364.5(CACNA2D4):c.1879-9C>G
NM_172364.5(CACNA2D4):c.1881G>T (p.Lys627Asn)
NM_172364.5(CACNA2D4):c.1909TTC[1] (p.Phe638del) rs752769989
NM_172364.5(CACNA2D4):c.1918G>A (p.Asp640Asn) rs267603402
NM_172364.5(CACNA2D4):c.1927G>A (p.Asp643Asn)
NM_172364.5(CACNA2D4):c.1929C>A (p.Asp643Glu) rs779746536
NM_172364.5(CACNA2D4):c.1931C>T (p.Thr644Ile) rs1417203572
NM_172364.5(CACNA2D4):c.1934C>A (p.Pro645His) rs1263670407
NM_172364.5(CACNA2D4):c.1934C>T (p.Pro645Leu)
NM_172364.5(CACNA2D4):c.193C>G (p.Pro65Ala) rs769056546
NM_172364.5(CACNA2D4):c.1941-2A>G
NM_172364.5(CACNA2D4):c.1944G>C (p.Leu648Phe) rs1865454657
NM_172364.5(CACNA2D4):c.1944G>T (p.Leu648Phe) rs1865454657
NM_172364.5(CACNA2D4):c.1945G>C (p.Gly649Arg) rs377423092
NM_172364.5(CACNA2D4):c.1948G>A (p.Val650Met)
NM_172364.5(CACNA2D4):c.1948G>T (p.Val650Leu)
NM_172364.5(CACNA2D4):c.1957T>C (p.Ser653Pro)
NM_172364.5(CACNA2D4):c.1961G>A (p.Arg654Gln) rs766608515
NM_172364.5(CACNA2D4):c.1970del (p.Gly657fs)
NM_172364.5(CACNA2D4):c.1978A>C (p.Ile660Leu)
NM_172364.5(CACNA2D4):c.1978A>G (p.Ile660Val) rs1262338329
NM_172364.5(CACNA2D4):c.197C>A (p.Ala66Glu)
NM_172364.5(CACNA2D4):c.1980C>G (p.Ile660Met)
NM_172364.5(CACNA2D4):c.1994C>A (p.Thr665Lys) rs770622451
NM_172364.5(CACNA2D4):c.1994C>T (p.Thr665Met) rs770622451
NM_172364.5(CACNA2D4):c.1999G>A (p.Val667Met)
NM_172364.5(CACNA2D4):c.2009-1G>C rs1865397544
NM_172364.5(CACNA2D4):c.2014C>T (p.His672Tyr)
NM_172364.5(CACNA2D4):c.201G>A (p.Trp67Ter) rs1290498788
NM_172364.5(CACNA2D4):c.2035CTGGCC[3] (p.Ala682_Gly683insLeuAla)
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2047G>T (p.Gly683Cys)
NM_172364.5(CACNA2D4):c.2050G>A (p.Asp684Asn) rs777772895
NM_172364.5(CACNA2D4):c.2050G>C (p.Asp684His) rs777772895
NM_172364.5(CACNA2D4):c.2055-9G>A
NM_172364.5(CACNA2D4):c.205C>T (p.Gln69Ter) rs1555188939
NM_172364.5(CACNA2D4):c.2068A>G (p.Thr690Ala) rs1024018519
NM_172364.5(CACNA2D4):c.2079C>A (p.Asp693Glu)
NM_172364.5(CACNA2D4):c.2081C>T (p.Pro694Leu)
NM_172364.5(CACNA2D4):c.2086C>T (p.His696Tyr)
NM_172364.5(CACNA2D4):c.2094G>T (p.Lys698Asn) rs751874126
NM_172364.5(CACNA2D4):c.2100C>A (p.Ser700Arg) rs1865392105
NM_172364.5(CACNA2D4):c.2101C>T (p.Gln701Ter)
NM_172364.5(CACNA2D4):c.2113A>G (p.Met705Val)
NM_172364.5(CACNA2D4):c.2119C>T (p.Arg707Cys) rs369720566
NM_172364.5(CACNA2D4):c.2132G>A (p.Arg711Lys)
NM_172364.5(CACNA2D4):c.2135A>T (p.Lys712Met)
NM_172364.5(CACNA2D4):c.2139C>A (p.Asp713Glu)
NM_172364.5(CACNA2D4):c.2149G>C (p.Glu717Gln)
NM_172364.5(CACNA2D4):c.2151G>A (p.Glu717=)
NM_172364.5(CACNA2D4):c.2152+3G>A
NM_172364.5(CACNA2D4):c.2153-10T>G
NM_172364.5(CACNA2D4):c.2161G>A (p.Glu721Lys)
NM_172364.5(CACNA2D4):c.2167G>A (p.Val723Ile) rs1865346973
NM_172364.5(CACNA2D4):c.2183T>C (p.Phe728Ser)
NM_172364.5(CACNA2D4):c.2184T>A (p.Phe728Leu) rs886049128
NM_172364.5(CACNA2D4):c.2185G>C (p.Asp729His) rs779367411
NM_172364.5(CACNA2D4):c.2189C>G (p.Ala730Gly) rs181994120
NM_172364.5(CACNA2D4):c.2200G>A (p.Ala734Thr) rs957880778
NM_172364.5(CACNA2D4):c.2206A>G (p.Met736Val)
NM_172364.5(CACNA2D4):c.2219G>A (p.Trp740Ter) rs2154448290
NM_172364.5(CACNA2D4):c.2228T>A (p.Leu743Gln) rs199498850
NM_172364.5(CACNA2D4):c.2231C>A (p.Ala744Asp)
NM_172364.5(CACNA2D4):c.2239A>C (p.Met747Leu)
NM_172364.5(CACNA2D4):c.2246+2T>G
NM_172364.5(CACNA2D4):c.2247G>T (p.Glu749Asp) rs1314490125
NM_172364.5(CACNA2D4):c.224A>G (p.Glu75Gly) rs1435400023
NM_172364.5(CACNA2D4):c.2257C>G (p.His753Asp)
NM_172364.5(CACNA2D4):c.2267A>T (p.Asp756Val) rs1865152185
NM_172364.5(CACNA2D4):c.2269A>C (p.Met757Leu) rs1471402337
NM_172364.5(CACNA2D4):c.2273C>G (p.Ala758Gly)
NM_172364.5(CACNA2D4):c.2287C>T (p.Arg763Trp) rs774789475
NM_172364.5(CACNA2D4):c.2292_2295del (p.Gly765fs)
NM_172364.5(CACNA2D4):c.2296C>A (p.Leu766Ile) rs770104096
NM_172364.5(CACNA2D4):c.2296C>G (p.Leu766Val) rs770104096
NM_172364.5(CACNA2D4):c.22C>T (p.Leu8Phe)
NM_172364.5(CACNA2D4):c.2309G>T (p.Ser770Ile) rs2154447942
NM_172364.5(CACNA2D4):c.2316C>G (p.Phe772Leu)
NM_172364.5(CACNA2D4):c.2318T>G (p.Val773Gly)
NM_172364.5(CACNA2D4):c.2331G>T (p.Lys777Asn) rs1252122745
NM_172364.5(CACNA2D4):c.2332G>A (p.Val778Ile) rs1429627928
NM_172364.5(CACNA2D4):c.2332G>T (p.Val778Phe)
NM_172364.5(CACNA2D4):c.2337del (p.Asp780fs)
NM_172364.5(CACNA2D4):c.2341A>G (p.Arg781Gly)
NM_172364.5(CACNA2D4):c.2365G>T (p.Glu789Ter) rs199886801
NM_172364.5(CACNA2D4):c.2373C>T (p.Ser791=) rs886049127
NM_172364.5(CACNA2D4):c.2387A>C (p.Asp796Ala)
NM_172364.5(CACNA2D4):c.2388C>G (p.Asp796Glu)
NM_172364.5(CACNA2D4):c.2389C>A (p.Arg797Ser) rs777004690
NM_172364.5(CACNA2D4):c.2389C>T (p.Arg797Cys) rs777004690
NM_172364.5(CACNA2D4):c.2393del (p.Phe798fs) rs1350324732
NM_172364.5(CACNA2D4):c.2407del (p.Arg803fs) rs767255782
NM_172364.5(CACNA2D4):c.2416T>C (p.Ser806Pro) rs748048662
NM_172364.5(CACNA2D4):c.2431G>A (p.Gly811Ser)
NM_172364.5(CACNA2D4):c.2436C>A (p.Ser812Arg)
NM_172364.5(CACNA2D4):c.2465G>A (p.Gly822Glu)
NM_172364.5(CACNA2D4):c.2469A>G (p.Pro823=) rs923150980
NM_172364.5(CACNA2D4):c.2470+11G>A rs886049126
NM_172364.5(CACNA2D4):c.2471-3C>T
NM_172364.5(CACNA2D4):c.2473A>G (p.Ser825Gly) rs1276028711
NM_172364.5(CACNA2D4):c.2478G>T (p.Ala826=) rs376350677
NM_172364.5(CACNA2D4):c.2497A>G (p.Thr833Ala)
NM_172364.5(CACNA2D4):c.2519T>A (p.Val840Glu) rs1085307701
NM_172364.5(CACNA2D4):c.2554G>C (p.Ala852Pro) rs961730912
NM_172364.5(CACNA2D4):c.2555_2557del (p.Ala852del) rs936783535
NM_172364.5(CACNA2D4):c.2556G>A (p.Ala852=) rs779248650
NM_172364.5(CACNA2D4):c.2558G>T (p.Gly853Val) rs1863716975
NM_172364.5(CACNA2D4):c.256G>C (p.Gly86Arg)
NM_172364.5(CACNA2D4):c.2591A>T (p.Lys864Ile) rs2154445859
NM_172364.5(CACNA2D4):c.2596T>G (p.Trp866Gly)
NM_172364.5(CACNA2D4):c.2600C>A (p.Ala867Glu)
NM_172364.5(CACNA2D4):c.2606C>G (p.Thr869Arg) rs35331095
NM_172364.5(CACNA2D4):c.2614T>C (p.Cys872Arg)
NM_172364.5(CACNA2D4):c.2621C>G (p.Thr874Ser) rs1863673956
NM_172364.5(CACNA2D4):c.2658T>G (p.Ser886Arg)
NM_172364.5(CACNA2D4):c.2671T>C (p.Phe891Leu) rs2154445807
NM_172364.5(CACNA2D4):c.2688C>G (p.Asn896Lys) rs755996321
NM_172364.5(CACNA2D4):c.2716C>G (p.Arg906Gly)
NM_172364.5(CACNA2D4):c.2716C>T (p.Arg906Ter) rs763125834
NM_172364.5(CACNA2D4):c.2717G>T (p.Arg906Leu)
NM_172364.5(CACNA2D4):c.2721+2T>C
NM_172364.5(CACNA2D4):c.2721+3G>A rs2154445804
NM_172364.5(CACNA2D4):c.2721G>A (p.Glu907=)
NM_172364.5(CACNA2D4):c.2723C>T (p.Thr908Met) rs553620421
NM_172364.5(CACNA2D4):c.2755G>C (p.Val919Leu) rs1863331994
NM_172364.5(CACNA2D4):c.2762C>G (p.Thr921Ser)
NM_172364.5(CACNA2D4):c.2778G>A (p.Met926Ile)
NM_172364.5(CACNA2D4):c.2780G>T (p.Gly927Val) rs571129509
NM_172364.5(CACNA2D4):c.2782G>T (p.Val928Leu) rs1863330193
NM_172364.5(CACNA2D4):c.2808C>G (p.Asp936Glu)
NM_172364.5(CACNA2D4):c.2819T>C (p.Met940Thr) rs2154445306
NM_172364.5(CACNA2D4):c.2831C>T (p.Ser944Leu) rs764887508
NM_172364.5(CACNA2D4):c.2834G>A (p.Ser945Asn)
NM_172364.5(CACNA2D4):c.2842C>G (p.His948Asp) rs1863304698
NM_172364.5(CACNA2D4):c.2849C>T (p.Ala950Val) rs1863304591
NM_172364.5(CACNA2D4):c.2868+4_2868+7del rs760300917
NM_172364.5(CACNA2D4):c.2869-12_2869-9del rs1378838357
NM_172364.5(CACNA2D4):c.2869-3C>T
NM_172364.5(CACNA2D4):c.2879C>T (p.Ala960Val) rs1863274343
NM_172364.5(CACNA2D4):c.2901G>C (p.Trp967Cys)
NM_172364.5(CACNA2D4):c.290G>T (p.Gly97Val)
NM_172364.5(CACNA2D4):c.2922-8T>A
NM_172364.5(CACNA2D4):c.2922-9_2922-8del rs2154445240
NM_172364.5(CACNA2D4):c.2922G>T (p.Leu974=) rs1302315138
NM_172364.5(CACNA2D4):c.2929_2954del (p.Leu977fs) rs1486003001
NM_172364.5(CACNA2D4):c.292T>C (p.Ser98Pro) rs1866925914
NM_172364.5(CACNA2D4):c.2932G>C (p.Glu978Gln)
NM_172364.5(CACNA2D4):c.2951C>A (p.Ser984Tyr) rs747585848
NM_172364.5(CACNA2D4):c.2958C>G (p.Tyr986Ter) rs142964907
NM_172364.5(CACNA2D4):c.2961C>A (p.Asp987Glu)
NM_172364.5(CACNA2D4):c.2974+1G>T rs1030373953
NM_172364.5(CACNA2D4):c.2980A>G (p.Ser994Gly)
NM_172364.5(CACNA2D4):c.2996-2A>T
NM_172364.5(CACNA2D4):c.2996-8_2997del rs1863171497
NM_172364.5(CACNA2D4):c.2996-9C>A
NM_172364.5(CACNA2D4):c.29C>G (p.Pro10Arg) rs1330311725
NM_172364.5(CACNA2D4):c.3026A>G (p.Gln1009Arg)
NM_172364.5(CACNA2D4):c.3032G>A (p.Cys1011Tyr)
NM_172364.5(CACNA2D4):c.3035A>T (p.Asp1012Val)
NM_172364.5(CACNA2D4):c.3038C>G (p.Thr1013Arg) rs757844766
NM_172364.5(CACNA2D4):c.3038C>T (p.Thr1013Met) rs757844766
NM_172364.5(CACNA2D4):c.3045C>A (p.Tyr1015Ter) rs1178449456
NM_172364.5(CACNA2D4):c.3055G>A (p.Val1019Met)
NM_172364.5(CACNA2D4):c.3066_3067delinsAA (p.Ala1023Thr) rs1863166292
NM_172364.5(CACNA2D4):c.3084C>A (p.Asn1028Lys)
NM_172364.5(CACNA2D4):c.3085G>A (p.Gly1029Arg)
NM_172364.5(CACNA2D4):c.309+3C>G
NM_172364.5(CACNA2D4):c.3092T>C (p.Val1031Ala)
NM_172364.5(CACNA2D4):c.3098G>A (p.Cys1033Tyr) rs751639400
NM_172364.5(CACNA2D4):c.310-5A>G
NM_172364.5(CACNA2D4):c.3104C>A (p.Pro1035His)
NM_172364.5(CACNA2D4):c.3113+6A>G
NM_172364.5(CACNA2D4):c.3114G>T (p.Lys1038Asn) rs1393377280
NM_172364.5(CACNA2D4):c.3121G>A (p.Val1041Met)
NM_172364.5(CACNA2D4):c.3145A>T (p.Asn1049Tyr)
NM_172364.5(CACNA2D4):c.3147CCT[3] (p.Leu1053del) rs528359746
NM_172364.5(CACNA2D4):c.3169_3170insGGACC (p.Pro1057fs)
NM_172364.5(CACNA2D4):c.3190T>A (p.Phe1064Ile) rs992496482
NM_172364.5(CACNA2D4):c.3199G>A (p.Val1067Met) rs781005888
NM_172364.5(CACNA2D4):c.3200T>C (p.Val1067Ala) rs1863099629
NM_172364.5(CACNA2D4):c.3212C>T (p.Ala1071Val) rs1863099095
NM_172364.5(CACNA2D4):c.3219A>T (p.Glu1073Asp)
NM_172364.5(CACNA2D4):c.3224A>G (p.Lys1075Arg)
NM_172364.5(CACNA2D4):c.3226+11A>G
NM_172364.5(CACNA2D4):c.3226+1A>G rs368458336
NM_172364.5(CACNA2D4):c.3226+2T>C
NM_172364.5(CACNA2D4):c.3226+6C>T
NM_172364.5(CACNA2D4):c.3226+6del rs780138839
NM_172364.5(CACNA2D4):c.3230A>G (p.Asn1077Ser)
NM_172364.5(CACNA2D4):c.3232G>C (p.Ala1078Pro)
NM_172364.5(CACNA2D4):c.3233C>T (p.Ala1078Val) rs756482741
NM_172364.5(CACNA2D4):c.3250C>G (p.Arg1084Gly)
NM_172364.5(CACNA2D4):c.3267G>T (p.Lys1089Asn) rs1340936557
NM_172364.5(CACNA2D4):c.3272G>A (p.Arg1091His)
NM_172364.5(CACNA2D4):c.3272G>C (p.Arg1091Pro)
NM_172364.5(CACNA2D4):c.3274C>T (p.Arg1092Trp) rs199937116
NM_172364.5(CACNA2D4):c.3275G>A (p.Arg1092Gln)
NM_172364.5(CACNA2D4):c.3284A>G (p.Asp1095Gly) rs1463485047
NM_172364.5(CACNA2D4):c.3295G>A (p.Ala1099Thr)
NM_172364.5(CACNA2D4):c.3296C>T (p.Ala1099Val)
NM_172364.5(CACNA2D4):c.3309+3G>A
NM_172364.5(CACNA2D4):c.3309+4C>T rs1212816358
NM_172364.5(CACNA2D4):c.3309+5G>A rs1319751569
NM_172364.5(CACNA2D4):c.3310-4G>T rs80092457
NM_172364.5(CACNA2D4):c.3314A>C (p.Asn1105Thr)
NM_172364.5(CACNA2D4):c.3317C>A (p.Ala1106Asp) rs2154444901
NM_172364.5(CACNA2D4):c.3325T>C (p.Cys1109Arg) rs768998593
NM_172364.5(CACNA2D4):c.3325T>G (p.Cys1109Gly) rs768998593
NM_172364.5(CACNA2D4):c.3328G>A (p.Gly1110Ser)
NM_172364.5(CACNA2D4):c.332G>T (p.Ser111Ile)
NM_172364.5(CACNA2D4):c.3331G>A (p.Gly1111Ser)
NM_172364.5(CACNA2D4):c.3341A>G (p.Asp1114Gly)
NM_172364.5(CACNA2D4):c.3344C>A (p.Thr1115Asn)
NM_172364.5(CACNA2D4):c.3353C>T (p.Ser1118Leu)
NM_172364.5(CACNA2D4):c.3354G>A (p.Ser1118=) rs374485519
NM_172364.5(CACNA2D4):c.3356C>A (p.Pro1119Gln)
NM_172364.5(CACNA2D4):c.3376G>A (p.Val1126Met)
NM_172364.5(CACNA2D4):c.3386G>C (p.Trp1129Ser) rs775985308
NM_172364.5(CACNA2D4):c.343G>T (p.Glu115Ter)
NM_172364.5(CACNA2D4):c.348G>C (p.Glu116Asp) rs1866874632
NM_172364.5(CACNA2D4):c.34C>T (p.Pro12Ser)
NM_172364.5(CACNA2D4):c.356G>A (p.Gly119Asp) rs1866874285
NM_172364.5(CACNA2D4):c.375G>C (p.Lys125Asn)
NM_172364.5(CACNA2D4):c.388A>G (p.Met130Val)
NM_172364.5(CACNA2D4):c.389T>C (p.Met130Thr) rs2154452590
NM_172364.5(CACNA2D4):c.391G>A (p.Glu131Lys) rs939785890
NM_172364.5(CACNA2D4):c.3G>T (p.Met1Ile)
NM_172364.5(CACNA2D4):c.407G>A (p.Arg136Lys)
NM_172364.5(CACNA2D4):c.415G>A (p.Glu139Lys)
NM_172364.5(CACNA2D4):c.415G>C (p.Glu139Gln) rs759939564
NM_172364.5(CACNA2D4):c.426+1G>A
NM_172364.5(CACNA2D4):c.426+6C>T rs1866870857
NM_172364.5(CACNA2D4):c.440C>T (p.Ala147Val)
NM_172364.5(CACNA2D4):c.445G>A (p.Glu149Lys)
NM_172364.5(CACNA2D4):c.45G>T (p.Arg15Ser)
NM_172364.5(CACNA2D4):c.464A>G (p.His155Arg)
NM_172364.5(CACNA2D4):c.466G>A (p.Glu156Lys)
NM_172364.5(CACNA2D4):c.472A>G (p.Asn158Asp) rs2154452480
NM_172364.5(CACNA2D4):c.473A>G (p.Asn158Ser) rs1866773563
NM_172364.5(CACNA2D4):c.486+6T>C rs1866772901
NM_172364.5(CACNA2D4):c.487-1G>C
NM_172364.5(CACNA2D4):c.487-3C>T rs767022078
NM_172364.5(CACNA2D4):c.503C>T (p.Ser168Leu)
NM_172364.5(CACNA2D4):c.509T>C (p.Leu170Pro)
NM_172364.5(CACNA2D4):c.514A>T (p.Asn172Tyr) rs1866708435
NM_172364.5(CACNA2D4):c.521G>A (p.Arg174Lys)
NM_172364.5(CACNA2D4):c.532G>A (p.Gly178Ser)
NM_172364.5(CACNA2D4):c.548_554del (p.Leu183fs) rs1210621191
NM_172364.5(CACNA2D4):c.561C>G (p.Phe187Leu)
NM_172364.5(CACNA2D4):c.565C>G (p.Leu189Val)
NM_172364.5(CACNA2D4):c.582C>G (p.His194Gln)
NM_172364.5(CACNA2D4):c.608C>A (p.Ser203Tyr) rs1866704658
NM_172364.5(CACNA2D4):c.608C>T (p.Ser203Phe)
NM_172364.5(CACNA2D4):c.610A>G (p.Ile204Val)
NM_172364.5(CACNA2D4):c.619G>A (p.Val207Met) rs373314376
NM_172364.5(CACNA2D4):c.619G>C (p.Val207Leu)
NM_172364.5(CACNA2D4):c.629C>T (p.Pro210Leu)
NM_172364.5(CACNA2D4):c.635A>G (p.Asn212Ser) rs1565740298
NM_172364.5(CACNA2D4):c.640T>A (p.Tyr214Asn) rs1267354772
NM_172364.5(CACNA2D4):c.649+4G>A rs1866703237
NM_172364.5(CACNA2D4):c.649+5C>A
NM_172364.5(CACNA2D4):c.649+6C>T
NM_172364.5(CACNA2D4):c.650-15A>C
NM_172364.5(CACNA2D4):c.650-2A>G rs1344354002
NM_172364.5(CACNA2D4):c.650A>C (p.Asp217Ala)
NM_172364.5(CACNA2D4):c.665A>G (p.Asn222Ser)
NM_172364.5(CACNA2D4):c.668G>A (p.Gly223Glu)
NM_172364.5(CACNA2D4):c.677T>A (p.Met226Lys) rs201011107
NM_172364.5(CACNA2D4):c.677T>C (p.Met226Thr)
NM_172364.5(CACNA2D4):c.680C>T (p.Ser227Phe)
NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp) rs886049131
NM_172364.5(CACNA2D4):c.694G>T (p.Ala232Ser) rs1866687975
NM_172364.5(CACNA2D4):c.69C>G (p.Asn23Lys)
NM_172364.5(CACNA2D4):c.703G>A (p.Val235Met)
NM_172364.5(CACNA2D4):c.706G>A (p.Glu236Lys) rs1555187473
NM_172364.5(CACNA2D4):c.718A>G (p.Arg240Gly) rs886049130
NM_172364.5(CACNA2D4):c.721G>C (p.Asp241His)
NM_172364.5(CACNA2D4):c.727A>G (p.Thr243Ala)
NM_172364.5(CACNA2D4):c.75C>T (p.Leu25=) rs765645971
NM_172364.5(CACNA2D4):c.761G>T (p.Gly254Val)
NM_172364.5(CACNA2D4):c.766T>C (p.Phe256Leu) rs1866685866
NM_172364.5(CACNA2D4):c.76G>T (p.Ala26Ser)
NM_172364.5(CACNA2D4):c.776A>G (p.Tyr259Cys) rs1469786825
NM_172364.5(CACNA2D4):c.780A>C (p.Pro260=)
NM_172364.5(CACNA2D4):c.793A>T (p.Thr265Ser) rs398124553
NM_172364.5(CACNA2D4):c.800A>G (p.Asp267Gly) rs2154449860
NM_172364.5(CACNA2D4):c.800_804delinsGTATAA (p.Asp267fs) rs1866165312
NM_172364.5(CACNA2D4):c.821T>C (p.Phe274Ser)
NM_172364.5(CACNA2D4):c.827G>A (p.Cys276Tyr)
NM_172364.5(CACNA2D4):c.829C>T (p.Arg277Ter)
NM_172364.5(CACNA2D4):c.829del (p.Arg277fs)
NM_172364.5(CACNA2D4):c.843-1G>A
NM_172364.5(CACNA2D4):c.846C>G (p.Tyr282Ter) rs776513970
NM_172364.5(CACNA2D4):c.859A>G (p.Thr287Ala)
NM_172364.5(CACNA2D4):c.865C>G (p.Pro289Ala)
NM_172364.5(CACNA2D4):c.869A>G (p.Lys290Arg)
NM_172364.5(CACNA2D4):c.876A>G (p.Ile292Met)
NM_172364.5(CACNA2D4):c.917G>A (p.Arg306Lys)
NM_172364.5(CACNA2D4):c.937A>G (p.Thr313Ala)
NM_172364.5(CACNA2D4):c.949A>C (p.Ile317Leu)
NM_172364.5(CACNA2D4):c.959C>G (p.Thr320Ser) rs1190082678
NM_172364.5(CACNA2D4):c.978_979inv (p.Ile327Val)
NM_172364.5(CACNA2D4):c.97C>T (p.Arg33Cys)
NM_172364.5(CACNA2D4):c.989T>C (p.Ile330Thr) rs1866140355
NM_172364.5(CACNA2D4):c.98G>A (p.Arg33His) rs369668064
NM_172364.5(CACNA2D4):c.98G>T (p.Arg33Leu) rs369668064
NM_172364.5(CACNA2D4):c.994-3C>T

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