ClinVar Miner

List of variants in gene CACNA2D1 studied for Brugada syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 592
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=) rs1229502 0.25231
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=) rs2229952 0.03415
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=) rs37133 0.02238
NM_000722.4(CACNA2D1):c.659-19del rs756130642 0.00820
NM_000722.4(CACNA2D1):c.2205-18G>A rs77599790 0.00807
NM_000722.4(CACNA2D1):c.659-18_659-17insC rs1554387291 0.00724
NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=) rs73151504 0.00692
NM_000722.4(CACNA2D1):c.1144-18A>G rs78174406 0.00588
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn) rs78086631 0.00226
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00179
NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=) rs142553634 0.00168
NM_000722.4(CACNA2D1):c.1038+12G>A rs117959542 0.00163
NM_000722.4(CACNA2D1):c.1735-6T>C rs111772206 0.00084
NM_000722.4(CACNA2D1):c.780-8A>G rs201901297 0.00082
NM_000722.4(CACNA2D1):c.1735-8del rs554101334 0.00076
NM_000722.4(CACNA2D1):c.2309-9T>A rs370816599 0.00069
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713 0.00067
NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=) rs147499376 0.00062
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00053
NM_000722.4(CACNA2D1):c.651T>C (p.Tyr217=) rs146819424 0.00053
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser) rs139608070 0.00046
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=) rs191213592 0.00044
NM_000722.4(CACNA2D1):c.1965C>T (p.Cys655=) rs184261698 0.00039
NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=) rs140492813 0.00037
NM_000722.4(CACNA2D1):c.1273-11C>T rs1410751702 0.00036
NM_000722.4(CACNA2D1):c.1482G>A (p.Leu494=) rs141344702 0.00031
NM_000722.4(CACNA2D1):c.2463+13T>A rs771850068 0.00031
NM_000722.4(CACNA2D1):c.659-15T>A rs1046985886 0.00030
NM_000722.4(CACNA2D1):c.1405A>G (p.Ile469Val) rs139439725 0.00027
NM_000722.4(CACNA2D1):c.1273-12T>C rs560674806 0.00026
NM_000722.4(CACNA2D1):c.1516-14T>C rs375141743 0.00024
NM_000722.4(CACNA2D1):c.60C>T (p.Gly20=) rs780748693 0.00024
NM_000722.4(CACNA2D1):c.397-6A>G rs200817801 0.00023
NM_000722.4(CACNA2D1):c.659-19C>T rs200166451 0.00020
NM_000722.4(CACNA2D1):c.1735-17G>A rs367841992 0.00019
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His) rs145109446 0.00018
NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=) rs199512133 0.00018
NM_000722.4(CACNA2D1):c.2983A>C (p.Lys995Gln) rs749398266 0.00017
NM_000722.4(CACNA2D1):c.3160-17T>C rs564122741 0.00017
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val) rs80063198 0.00016
NM_000722.4(CACNA2D1):c.1222+4A>T rs79571328 0.00014
NM_000722.4(CACNA2D1):c.1569A>G (p.Leu523=) rs200510364 0.00013
NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys) rs550794714 0.00013
NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=) rs757607965 0.00012
NM_000722.4(CACNA2D1):c.728+13A>C rs149406906 0.00012
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_000722.4(CACNA2D1):c.2837-17G>A rs370725491 0.00011
NM_000722.4(CACNA2D1):c.3081C>T (p.Asp1027=) rs568821967 0.00011
NM_000722.4(CACNA2D1):c.3160-23_3160-20del rs777223558 0.00011
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His) rs141238313 0.00011
NM_000722.4(CACNA2D1):c.1662+17A>G rs558261918 0.00010
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=) rs148283249 0.00010
NM_000722.4(CACNA2D1):c.2727+12C>G rs765175609 0.00010
NM_000722.4(CACNA2D1):c.2919C>T (p.Asn973=) rs374073497 0.00010
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His) rs375189396 0.00010
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000722.4(CACNA2D1):c.2059G>A (p.Ala687Thr) rs751204853 0.00009
NM_000722.4(CACNA2D1):c.2464-17G>A rs374612462 0.00009
NM_000722.4(CACNA2D1):c.3039A>C (p.Pro1013=) rs373348181 0.00009
NM_000722.4(CACNA2D1):c.528A>C (p.Ser176=) rs138577227 0.00009
NM_000722.4(CACNA2D1):c.1441-6T>C rs532460440 0.00008
NM_000722.4(CACNA2D1):c.1887A>G (p.Lys629=) rs143995526 0.00008
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu) rs202108848 0.00008
NM_000722.4(CACNA2D1):c.2727+9T>C rs199542348 0.00008
NM_000722.4(CACNA2D1):c.2730A>T (p.Pro910=) rs187849336 0.00008
NM_000722.4(CACNA2D1):c.2837-18C>T rs370496790 0.00008
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu) rs765696205 0.00007
NM_000722.4(CACNA2D1):c.2016C>T (p.Asn672=) rs558175396 0.00007
NM_000722.4(CACNA2D1):c.2575-9C>G rs183290212 0.00007
NM_000722.4(CACNA2D1):c.318A>G (p.Lys106=) rs757313687 0.00007
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=) rs148592476 0.00006
NM_000722.4(CACNA2D1):c.1608G>A (p.Glu536=) rs369435463 0.00006
NM_000722.4(CACNA2D1):c.1662+3G>A rs375174760 0.00006
NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=) rs763839433 0.00006
NM_000722.4(CACNA2D1):c.2334G>A (p.Ser778=) rs368512946 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_000722.4(CACNA2D1):c.396+16T>G rs761439392 0.00006
NM_000722.4(CACNA2D1):c.1038+9C>T rs367553287 0.00005
NM_000722.4(CACNA2D1):c.1039-15T>G rs753474325 0.00005
NM_000722.4(CACNA2D1):c.1685G>C (p.Gly562Ala) rs371500586 0.00005
NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=) rs761279886 0.00005
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu) rs145110338 0.00005
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met) rs111888027 0.00005
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn) rs776720930 0.00005
NM_000722.4(CACNA2D1):c.294+20G>A rs745954855 0.00005
NM_000722.4(CACNA2D1):c.2967-15A>G rs750119271 0.00005
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=) rs753918568 0.00004
NM_000722.4(CACNA2D1):c.1441-12C>G rs559623642 0.00004
NM_000722.4(CACNA2D1):c.177+11T>A rs376032102 0.00004
NM_000722.4(CACNA2D1):c.1796+8A>G rs200882576 0.00004
NM_000722.4(CACNA2D1):c.2142C>T (p.Ile714=) rs745501384 0.00004
NM_000722.4(CACNA2D1):c.2151G>A (p.Val717=) rs150414062 0.00004
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp) rs768768419 0.00004
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu) rs1015793463 0.00004
NM_000722.4(CACNA2D1):c.2874C>T (p.Ser958=) rs754533216 0.00004
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met) rs748581194 0.00004
NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu) rs773980191 0.00004
NM_000722.4(CACNA2D1):c.355-18G>A rs370574759 0.00004
NM_000722.4(CACNA2D1):c.355-19C>T rs749395509 0.00004
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu) rs532261094 0.00004
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=) rs372164615 0.00004
NM_000722.4(CACNA2D1):c.1038+8T>C rs1248422043 0.00003
NM_000722.4(CACNA2D1):c.1101G>A (p.Glu367=) rs145809709 0.00003
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser) rs149828018 0.00003
NM_000722.4(CACNA2D1):c.1223-17A>T rs1043041322 0.00003
NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=) rs76594260 0.00003
NM_000722.4(CACNA2D1):c.1635A>C (p.Ala545=) rs540691116 0.00003
NM_000722.4(CACNA2D1):c.1736G>A (p.Arg579Lys) rs1021370066 0.00003
NM_000722.4(CACNA2D1):c.177+9A>C rs370836520 0.00003
NM_000722.4(CACNA2D1):c.2053+12T>G rs765115025 0.00003
NM_000722.4(CACNA2D1):c.2054-20A>G rs751143429 0.00003
NM_000722.4(CACNA2D1):c.2159G>A (p.Arg720Gln) rs79127167 0.00003
NM_000722.4(CACNA2D1):c.2464-16C>T rs370508265 0.00003
NM_000722.4(CACNA2D1):c.2503-19G>C rs767195311 0.00003
NM_000722.4(CACNA2D1):c.2565T>C (p.Tyr855=) rs1321225032 0.00003
NM_000722.4(CACNA2D1):c.2727+16G>A rs201782873 0.00003
NM_000722.4(CACNA2D1):c.2837-10G>A rs530040333 0.00003
NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile) rs1218449046 0.00003
NM_000722.4(CACNA2D1):c.3066G>A (p.Ala1022=) rs780560452 0.00003
NM_000722.4(CACNA2D1):c.312G>A (p.Ala104=) rs565135307 0.00003
NM_000722.4(CACNA2D1):c.321T>G (p.Val107=) rs907675882 0.00003
NM_000722.4(CACNA2D1):c.489C>T (p.His163=) rs372039045 0.00003
NM_000722.4(CACNA2D1):c.585G>A (p.Lys195=) rs1035408693 0.00003
NM_000722.4(CACNA2D1):c.591C>T (p.Arg197=) rs749757910 0.00003
NM_000722.4(CACNA2D1):c.677A>G (p.Asn226Ser) rs774975279 0.00003
NM_000722.4(CACNA2D1):c.818G>A (p.Arg273Gln) rs373911809 0.00003
NM_000722.4(CACNA2D1):c.880-12A>G rs185600365 0.00003
NM_000722.4(CACNA2D1):c.95+10C>T rs757840920 0.00003
NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys) rs761139883 0.00002
NM_000722.4(CACNA2D1):c.1411G>A (p.Gly471Ser) rs377337212 0.00002
NM_000722.4(CACNA2D1):c.1734+8T>C rs1008923000 0.00002
NM_000722.4(CACNA2D1):c.174T>C (p.Val58=) rs771474248 0.00002
NM_000722.4(CACNA2D1):c.1993A>G (p.Thr665Ala) rs780901801 0.00002
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys) rs751430979 0.00002
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys) rs759003114 0.00002
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala) rs1409507624 0.00002
NM_000722.4(CACNA2D1):c.2464-4T>G rs752369061 0.00002
NM_000722.4(CACNA2D1):c.2658T>C (p.Tyr886=) rs775601344 0.00002
NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=) rs147728344 0.00002
NM_000722.4(CACNA2D1):c.2837-14C>G rs774076778 0.00002
NM_000722.4(CACNA2D1):c.2862G>A (p.Thr954=) rs749722010 0.00002
NM_000722.4(CACNA2D1):c.2869C>T (p.Leu957=) rs767963200 0.00002
NM_000722.4(CACNA2D1):c.3260C>T (p.Thr1087Ile) rs1457933535 0.00002
NM_000722.4(CACNA2D1):c.560G>A (p.Ser187Asn) rs955984125 0.00002
NM_000722.4(CACNA2D1):c.592G>A (p.Glu198Lys) rs370389203 0.00002
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser) rs1461155317 0.00002
NM_000722.4(CACNA2D1):c.1062C>T (p.Cys354=) rs142965905 0.00001
NM_000722.4(CACNA2D1):c.1074T>C (p.Ile358=) rs973445005 0.00001
NM_000722.4(CACNA2D1):c.10G>A (p.Gly4Ser) rs1477073387 0.00001
NM_000722.4(CACNA2D1):c.1144-11A>C rs1343233163 0.00001
NM_000722.4(CACNA2D1):c.1144-17T>C rs566289758 0.00001
NM_000722.4(CACNA2D1):c.116A>G (p.Lys39Arg) rs776939237 0.00001
NM_000722.4(CACNA2D1):c.1222+6A>C rs1302414558 0.00001
NM_000722.4(CACNA2D1):c.1223-11G>A rs946926708 0.00001
NM_000722.4(CACNA2D1):c.129C>T (p.Asp43=) rs149333241 0.00001
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu) rs147360048 0.00001
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile) rs1477267428 0.00001
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys) rs76684172 0.00001
NM_000722.4(CACNA2D1):c.1508G>A (p.Arg503His) rs758561622 0.00001
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser) rs1386287681 0.00001
NM_000722.4(CACNA2D1):c.1545C>T (p.Ile515=) rs1167714965 0.00001
NM_000722.4(CACNA2D1):c.1590+7A>G rs756630395 0.00001
NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln) rs578023934 0.00001
NM_000722.4(CACNA2D1):c.1663-9T>C rs751727946 0.00001
NM_000722.4(CACNA2D1):c.168G>A (p.Gln56=) rs761109570 0.00001
NM_000722.4(CACNA2D1):c.1692T>C (p.Ser564=) rs762286086 0.00001
NM_000722.4(CACNA2D1):c.1735-18C>T rs1351760019 0.00001
NM_000722.4(CACNA2D1):c.1735A>C (p.Arg579=) rs777197885 0.00001
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile) rs773781850 0.00001
NM_000722.4(CACNA2D1):c.1796+4A>G rs1002391339 0.00001
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys) rs773908607 0.00001
NM_000722.4(CACNA2D1):c.1880A>G (p.Lys627Arg) rs1064795828 0.00001
NM_000722.4(CACNA2D1):c.1884C>T (p.Gly628=) rs752092062 0.00001
NM_000722.4(CACNA2D1):c.1894+19C>G rs752401774 0.00001
NM_000722.4(CACNA2D1):c.1895-11T>G rs758956960 0.00001
NM_000722.4(CACNA2D1):c.1895-14C>T rs551797425 0.00001
NM_000722.4(CACNA2D1):c.1906C>G (p.Leu636Val) rs1218084026 0.00001
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln) rs775481386 0.00001
NM_000722.4(CACNA2D1):c.1941A>G (p.Thr647=) rs1796550348 0.00001
NM_000722.4(CACNA2D1):c.1955+6T>A rs770715906 0.00001
NM_000722.4(CACNA2D1):c.1967A>G (p.Asn656Ser) rs747054162 0.00001
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr) rs777463785 0.00001
NM_000722.4(CACNA2D1):c.1991A>G (p.Asn664Ser) rs145061599 0.00001
NM_000722.4(CACNA2D1):c.2040A>G (p.Pro680=) rs538190370 0.00001
NM_000722.4(CACNA2D1):c.2054-12T>C rs955873996 0.00001
NM_000722.4(CACNA2D1):c.2054-13T>C rs779720903 0.00001
NM_000722.4(CACNA2D1):c.2054-18G>T rs1252527272 0.00001
NM_000722.4(CACNA2D1):c.2060C>T (p.Ala687Val) rs761738920 0.00001
NM_000722.4(CACNA2D1):c.2077G>A (p.Val693Ile) rs767475523 0.00001
NM_000722.4(CACNA2D1):c.2142-9C>T rs775065125 0.00001
NM_000722.4(CACNA2D1):c.2238A>G (p.Thr746=) rs192741898 0.00001
NM_000722.4(CACNA2D1):c.2244G>A (p.Glu748=) rs754217639 0.00001
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn) rs767965086 0.00001
NM_000722.4(CACNA2D1):c.2300A>G (p.Tyr767Cys) rs770556456 0.00001
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu) rs772938422 0.00001
NM_000722.4(CACNA2D1):c.2321G>A (p.Gly774Asp) rs776559898 0.00001
NM_000722.4(CACNA2D1):c.2356G>A (p.Val786Ile) rs554171052 0.00001
NM_000722.4(CACNA2D1):c.2450C>T (p.Ser817Leu) rs775523046 0.00001
NM_000722.4(CACNA2D1):c.2463+14A>T rs749391834 0.00001
NM_000722.4(CACNA2D1):c.2463+20T>A rs1319530763 0.00001
NM_000722.4(CACNA2D1):c.2464-18C>T rs753580116 0.00001
NM_000722.4(CACNA2D1):c.2502+13T>C rs1794790861 0.00001
NM_000722.4(CACNA2D1):c.2502+14T>G rs376879282 0.00001
NM_000722.4(CACNA2D1):c.251G>A (p.Arg84Lys) rs1817832156 0.00001
NM_000722.4(CACNA2D1):c.2535G>A (p.Gly845=) rs1287365625 0.00001
NM_000722.4(CACNA2D1):c.2574+3A>C rs533025081 0.00001
NM_000722.4(CACNA2D1):c.2592A>T (p.Gly864=) rs556022468 0.00001
NM_000722.4(CACNA2D1):c.2602C>T (p.Pro868Ser) rs1454596711 0.00001
NM_000722.4(CACNA2D1):c.2606G>A (p.Ser869Asn) rs1379942443 0.00001
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser) rs772889955 0.00001
NM_000722.4(CACNA2D1):c.2689G>A (p.Ala897Thr) rs1276335298 0.00001
NM_000722.4(CACNA2D1):c.2710C>T (p.His904Tyr) rs201755371 0.00001
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys) rs1235710029 0.00001
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val) rs1214105842 0.00001
NM_000722.4(CACNA2D1):c.2728-17A>G rs1794453039 0.00001
NM_000722.4(CACNA2D1):c.2728-4A>G rs758571613 0.00001
NM_000722.4(CACNA2D1):c.2777C>T (p.Ala926Val) rs760126352 0.00001
NM_000722.4(CACNA2D1):c.2780+11A>T rs775140112 0.00001
NM_000722.4(CACNA2D1):c.2785A>G (p.Ile929Val) rs774978800 0.00001
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe) rs770791780 0.00001
NM_000722.4(CACNA2D1):c.2822G>A (p.Arg941Gln) rs991607267 0.00001
NM_000722.4(CACNA2D1):c.2836+18C>A rs769849031 0.00001
NM_000722.4(CACNA2D1):c.2837-11C>T rs376087769 0.00001
NM_000722.4(CACNA2D1):c.2847G>A (p.Glu949=) rs139597562 0.00001
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr) rs768081623 0.00001
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn) rs1258676891 0.00001
NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile) rs768408345 0.00001
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly) rs1331324030 0.00001
NM_000722.4(CACNA2D1):c.294+11A>G rs372555571 0.00001
NM_000722.4(CACNA2D1):c.2943A>G (p.Val981=) rs1344418209 0.00001
NM_000722.4(CACNA2D1):c.2967-3C>A rs375733834 0.00001
NM_000722.4(CACNA2D1):c.2967-9A>G rs764920745 0.00001
NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val) rs150594547 0.00001
NM_000722.4(CACNA2D1):c.2973T>C (p.Phe991=) rs1040607096 0.00001
NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile) rs770950993 0.00001
NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln) rs79216498 0.00001
NM_000722.4(CACNA2D1):c.3076+14T>G rs749882534 0.00001
NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu) rs748929082 0.00001
NM_000722.4(CACNA2D1):c.311C>T (p.Ala104Val) rs1338611631 0.00001
NM_000722.4(CACNA2D1):c.3160-14T>G rs368722645 0.00001
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser) rs2129932628 0.00001
NM_000722.4(CACNA2D1):c.3208T>C (p.Trp1070Arg) rs1024010075 0.00001
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp) rs138331326 0.00001
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg) rs759988243 0.00001
NM_000722.4(CACNA2D1):c.3275G>A (p.Ter1092=) rs890005272 0.00001
NM_000722.4(CACNA2D1):c.341G>T (p.Arg114Ile) rs1243465087 0.00001
NM_000722.4(CACNA2D1):c.354+20A>G rs753020973 0.00001
NM_000722.4(CACNA2D1):c.394G>T (p.Asp132Tyr) rs749965891 0.00001
NM_000722.4(CACNA2D1):c.421G>C (p.Gly141Arg) rs1342483559 0.00001
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met) rs756765026 0.00001
NM_000722.4(CACNA2D1):c.45A>G (p.Gln15=) rs771243374 0.00001
NM_000722.4(CACNA2D1):c.460A>G (p.Asn154Asp) rs1789146053 0.00001
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe) rs752496490 0.00001
NM_000722.4(CACNA2D1):c.498C>T (p.Val166=) rs774323684 0.00001
NM_000722.4(CACNA2D1):c.525C>A (p.Gly175=) rs766849009 0.00001
NM_000722.4(CACNA2D1):c.529A>C (p.Thr177Pro) rs1810263158 0.00001
NM_000722.4(CACNA2D1):c.540A>G (p.Leu180=) rs761035531 0.00001
NM_000722.4(CACNA2D1):c.62C>T (p.Pro21Leu) rs754470299 0.00001
NM_000722.4(CACNA2D1):c.658+20A>G rs771189795 0.00001
NM_000722.4(CACNA2D1):c.658+8C>T rs548109932 0.00001
NM_000722.4(CACNA2D1):c.659-3T>C rs770300395 0.00001
NM_000722.4(CACNA2D1):c.659-8T>G rs773518022 0.00001
NM_000722.4(CACNA2D1):c.660T>C (p.Ala220=) rs555595565 0.00001
NM_000722.4(CACNA2D1):c.66G>A (p.Ser22=) rs995732237 0.00001
NM_000722.4(CACNA2D1):c.69G>C (p.Ser23=) rs1410295138 0.00001
NM_000722.4(CACNA2D1):c.702C>A (p.Asp234Glu) rs1183114112 0.00001
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=) rs1281680153 0.00001
NM_000722.4(CACNA2D1):c.75G>A (p.Glu25=) rs199857487 0.00001
NM_000722.4(CACNA2D1):c.779+10T>C rs765637188 0.00001
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn) rs779135778 0.00001
NM_000722.4(CACNA2D1):c.873A>C (p.Val291=) rs1248592839 0.00001
NM_000722.4(CACNA2D1):c.879+19C>T rs528189364 0.00001
NM_000722.4(CACNA2D1):c.880-10T>C rs1172160373 0.00001
NM_000722.4(CACNA2D1):c.880-13T>G rs1184463555 0.00001
NM_000722.4(CACNA2D1):c.921T>C (p.Leu307=) rs773515716 0.00001
NM_000722.4(CACNA2D1):c.96-18C>A rs1819621561 0.00001
NC_000007.13:g.(?_81579698)_(81594991_?)dup
NC_000007.13:g.(?_81579698)_(81603878_?)dup
NC_000007.13:g.(?_81579708)_(81579844_?)dup
NC_000007.13:g.(?_81579708)_(81695860_?)dup
NC_000007.13:g.(?_81964431)_(81978985_?)del
NC_000007.13:g.(?_81964431)_(81978985_?)dup
NC_000007.13:g.(?_81964431)_(82072775_?)dup
NC_000007.13:g.(?_81978864)_(82072775_?)dup
NC_000007.13:g.(?_81978874)_(82072785_?)dup
NC_000007.13:g.(?_82072661)_(82072775_?)dup
NC_000007.14:g.(?_81967159)_(81970747_?)del
NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile) rs1324013633
NM_000722.4(CACNA2D1):c.1017T>G (p.Phe339Leu)
NM_000722.4(CACNA2D1):c.1019C>T (p.Ala340Val)
NM_000722.4(CACNA2D1):c.1038+7A>G rs2485698287
NM_000722.4(CACNA2D1):c.1039-12T>C rs1056138663
NM_000722.4(CACNA2D1):c.1080A>G (p.Leu360=) rs1169691935
NM_000722.4(CACNA2D1):c.1143+10A>G
NM_000722.4(CACNA2D1):c.1143+16T>C
NM_000722.4(CACNA2D1):c.1143+19T>C
NM_000722.4(CACNA2D1):c.1143+8T>C rs2485619497
NM_000722.4(CACNA2D1):c.1144-6A>T rs1800182460
NM_000722.4(CACNA2D1):c.1148G>A (p.Arg383His) rs1562870772
NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala) rs2130949881
NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=) rs2485270612
NM_000722.4(CACNA2D1):c.1180T>C (p.Tyr394His) rs2485270272
NM_000722.4(CACNA2D1):c.1222+15T>G
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys) rs886039110
NM_000722.4(CACNA2D1):c.1266T>G (p.Asn422Lys)
NM_000722.4(CACNA2D1):c.1272+20G>A rs2485243533
NM_000722.4(CACNA2D1):c.1273-12_1273-11insTTTC rs72239441
NM_000722.4(CACNA2D1):c.1273-12del rs4019047
NM_000722.4(CACNA2D1):c.1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-13_1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-16_1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-17_1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-24_1273-21dup rs4019047
NM_000722.4(CACNA2D1):c.1273-24_1273-22dup rs4019047
NM_000722.4(CACNA2D1):c.1273-9C>T rs776181564
NM_000722.4(CACNA2D1):c.1273-9del rs760642663
NM_000722.4(CACNA2D1):c.1273-9dup rs760642663
NM_000722.4(CACNA2D1):c.1281G>A (p.Leu427=) rs1799868121
NM_000722.4(CACNA2D1):c.1294A>C (p.Arg432=) rs1554351598
NM_000722.4(CACNA2D1):c.1330G>A (p.Val444Ile) rs1799865602
NM_000722.4(CACNA2D1):c.1362+19C>G rs1168448448
NM_000722.4(CACNA2D1):c.1362+2_1362+5dup rs1219447657
NM_000722.4(CACNA2D1):c.1410C>T (p.Thr470=) rs771969809
NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del) rs1554349582
NM_000722.4(CACNA2D1):c.1440+17T>C rs2485141763
NM_000722.4(CACNA2D1):c.1440+19A>G rs2485141712
NM_000722.4(CACNA2D1):c.1440+8G>T rs2130885006
NM_000722.4(CACNA2D1):c.1441-16del rs199645602
NM_000722.4(CACNA2D1):c.1441-5_1441-3del rs769946298
NM_000722.4(CACNA2D1):c.1476G>A (p.Val492=) rs1197976924
NM_000722.4(CACNA2D1):c.14G>C (p.Cys5Ser) rs552468945
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro) rs758561622
NM_000722.4(CACNA2D1):c.1515+7T>C rs750788302
NM_000722.4(CACNA2D1):c.1515+7T>G rs750788302
NM_000722.4(CACNA2D1):c.1516-13TTTTC[3]
NM_000722.4(CACNA2D1):c.1516-16T>A rs2485118758
NM_000722.4(CACNA2D1):c.1516-4_1516-3delinsAA rs2485118339
NM_000722.4(CACNA2D1):c.1516-5T>A rs2130867687
NM_000722.4(CACNA2D1):c.1516-9C>T rs201578104
NM_000722.4(CACNA2D1):c.1516-9_1516-7del rs1365855025
NM_000722.4(CACNA2D1):c.1543A>G (p.Ile515Val)
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp) rs1199084944
NM_000722.4(CACNA2D1):c.1591-22ATT[2] rs2485000638
NM_000722.4(CACNA2D1):c.1591-8C>T rs2130798402
NM_000722.4(CACNA2D1):c.1593C>T (p.Asn531=) rs2485000261
NM_000722.4(CACNA2D1):c.1609C>G (p.Pro537Ala) rs1554345090
NM_000722.4(CACNA2D1):c.1635A>G (p.Ala545=) rs540691116
NM_000722.4(CACNA2D1):c.1642G>A (p.Glu548Lys) rs578023934
NM_000722.4(CACNA2D1):c.1662+12C>T rs748486095
NM_000722.4(CACNA2D1):c.1662+17A>T
NM_000722.4(CACNA2D1):c.1663-12A>C rs2484961234
NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln) rs1584331322
NM_000722.4(CACNA2D1):c.1683T>C (p.Asp561=)
NM_000722.4(CACNA2D1):c.1714C>T (p.Leu572=) rs2484959900
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala) rs775067204
NM_000722.4(CACNA2D1):c.1745A>G (p.Asp582Gly) rs2484907511
NM_000722.4(CACNA2D1):c.177+14A>G
NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser) rs1201336704
NM_000722.4(CACNA2D1):c.178-12T>C rs78151113
NM_000722.4(CACNA2D1):c.178-12del rs5885290
NM_000722.4(CACNA2D1):c.178-13_178-12dup rs5885290
NM_000722.4(CACNA2D1):c.178-19T>G rs750697000
NM_000722.4(CACNA2D1):c.178-21dup rs5885290
NM_000722.4(CACNA2D1):c.1796+7_1796+10del
NM_000722.4(CACNA2D1):c.1797-13G>A rs2130667478
NM_000722.4(CACNA2D1):c.1797-14T>G rs775862838
NM_000722.4(CACNA2D1):c.1797-18C>T rs760966998
NM_000722.4(CACNA2D1):c.1878A>G (p.Lys626=) rs2484795501
NM_000722.4(CACNA2D1):c.1885A>G (p.Lys629Glu)
NM_000722.4(CACNA2D1):c.1894+9T>C rs2130647213
NM_000722.4(CACNA2D1):c.1895-16A>G rs1264208581
NM_000722.4(CACNA2D1):c.1895-7T>C rs2130638150
NM_000722.4(CACNA2D1):c.1895-8C>T rs1584281988
NM_000722.4(CACNA2D1):c.1895A>G (p.Asp632Gly) rs2484782921
NM_000722.4(CACNA2D1):c.1938T>C (p.Tyr646=) rs2484781717
NM_000722.4(CACNA2D1):c.1951C>G (p.Pro651Ala) rs774376615
NM_000722.4(CACNA2D1):c.1955+15A>G rs1796548568
NM_000722.4(CACNA2D1):c.1956-12_1956-10dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12dup rs3083235
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.1962C>T (p.Tyr654=) rs1795625802
NM_000722.4(CACNA2D1):c.1988A>G (p.Asn663Ser) rs2484672946
NM_000722.4(CACNA2D1):c.2019G>A (p.Glu673=)
NM_000722.4(CACNA2D1):c.2031A>G (p.Arg677=) rs766067770
NM_000722.4(CACNA2D1):c.2048C>T (p.Pro683Leu) rs2484671165
NM_000722.4(CACNA2D1):c.206C>T (p.Thr69Ile)
NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met) rs1554333986
NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=) rs1554333976
NM_000722.4(CACNA2D1):c.2138A>C (p.Asn713Thr)
NM_000722.4(CACNA2D1):c.2141+10_2141+13del rs773095610
NM_000722.4(CACNA2D1):c.2141+7A>G rs143230847
NM_000722.4(CACNA2D1):c.2142-20T>C rs777023624
NM_000722.4(CACNA2D1):c.2142-3C>T rs1285172483
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met) rs745501384
NM_000722.4(CACNA2D1):c.2189G>A (p.Arg730Lys) rs2484603999
NM_000722.4(CACNA2D1):c.2200A>G (p.Lys734Glu) rs1554333593
NM_000722.4(CACNA2D1):c.2204+16A>G
NM_000722.4(CACNA2D1):c.2204+18C>A
NM_000722.4(CACNA2D1):c.2205-14C>T
NM_000722.4(CACNA2D1):c.2205-15C>A rs2130423307
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly) rs2484588370
NM_000722.4(CACNA2D1):c.2235G>A (p.Glu745=) rs2130422241
NM_000722.4(CACNA2D1):c.227G>T (p.Arg76Leu) rs200298945
NM_000722.4(CACNA2D1):c.2289C>T (p.Phe763=)
NM_000722.4(CACNA2D1):c.2291C>G (p.Thr764Ser) rs2130421265
NM_000722.4(CACNA2D1):c.2292T>C (p.Thr764=) rs2484586017
NM_000722.4(CACNA2D1):c.2309-12dup rs762936617
NM_000722.4(CACNA2D1):c.2309-13del
NM_000722.4(CACNA2D1):c.2309-21ATTT[2] rs374070810
NM_000722.4(CACNA2D1):c.2309-22_2309-18del rs780509781
NM_000722.4(CACNA2D1):c.2309-3T>A rs762328666
NM_000722.4(CACNA2D1):c.2309-3del rs762936617
NM_000722.4(CACNA2D1):c.2317C>T (p.Pro773Ser) rs1268971839
NM_000722.4(CACNA2D1):c.2320G>A (p.Gly774Ser)
NM_000722.4(CACNA2D1):c.2334G>C (p.Ser778=) rs368512946
NM_000722.4(CACNA2D1):c.2336G>A (p.Gly779Asp) rs1794984725
NM_000722.4(CACNA2D1):c.2395+10_2395+20del rs1346273690
NM_000722.4(CACNA2D1):c.2395+12T>C rs952619817
NM_000722.4(CACNA2D1):c.2396-12T>A
NM_000722.4(CACNA2D1):c.2398G>A (p.Val800Ile) rs1365919214
NM_000722.4(CACNA2D1):c.2458G>A (p.Asp820Asn) rs1374964378
NM_000722.4(CACNA2D1):c.2463+19A>G rs1405416387
NM_000722.4(CACNA2D1):c.2463+9T>C rs2484538391
NM_000722.4(CACNA2D1):c.2464-20A>G rs2484528610
NM_000722.4(CACNA2D1):c.2469T>C (p.Ala823=) rs2484527852
NM_000722.4(CACNA2D1):c.2472T>C (p.Gly824=) rs2484527713
NM_000722.4(CACNA2D1):c.2486G>A (p.Cys829Tyr) rs2484527402
NM_000722.4(CACNA2D1):c.2502+19A>G
NM_000722.4(CACNA2D1):c.2503-10_2503-6del rs774634676
NM_000722.4(CACNA2D1):c.2503-5G>T rs2130336971
NM_000722.4(CACNA2D1):c.2503-7T>C rs1794643989
NM_000722.4(CACNA2D1):c.2513G>T (p.Cys838Phe) rs1584210392
NM_000722.4(CACNA2D1):c.2529T>C (p.Asp843=)
NM_000722.4(CACNA2D1):c.2535G>C (p.Gly845=)
NM_000722.4(CACNA2D1):c.253G>A (p.Asp85Asn) rs769700955
NM_000722.4(CACNA2D1):c.2560G>A (p.Asp854Asn) rs2130335993
NM_000722.4(CACNA2D1):c.2570A>G (p.Asn857Ser)
NM_000722.4(CACNA2D1):c.2574+17A>G rs1330096002
NM_000722.4(CACNA2D1):c.2574+19A>T rs2484496918
NM_000722.4(CACNA2D1):c.2574+20G>A rs2484496866
NM_000722.4(CACNA2D1):c.2574+3A>G rs533025081
NM_000722.4(CACNA2D1):c.2575-16T>C rs2484471886
NM_000722.4(CACNA2D1):c.258T>C (p.Ile86=) rs1817830741
NM_000722.4(CACNA2D1):c.2608T>C (p.Leu870=)
NM_000722.4(CACNA2D1):c.2629A>C (p.Ile877Leu)
NM_000722.4(CACNA2D1):c.2668T>G (p.Ser890Ala) rs1794473855
NM_000722.4(CACNA2D1):c.2677G>C (p.Glu893Gln) rs1554330635
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=) rs758369222
NM_000722.4(CACNA2D1):c.2727+11T>A rs2484466855
NM_000722.4(CACNA2D1):c.2727+17G>C rs2484466659
NM_000722.4(CACNA2D1):c.2727+4A>G rs1214386291
NM_000722.4(CACNA2D1):c.2727+8del rs538712996
NM_000722.4(CACNA2D1):c.2728C>T (p.Pro910Ser) rs1794451842
NM_000722.4(CACNA2D1):c.2730A>C (p.Pro910=) rs187849336
NM_000722.4(CACNA2D1):c.2733A>C (p.Ser911=) rs367790770
NM_000722.4(CACNA2D1):c.2760G>C (p.Trp920Cys) rs1554330432
NM_000722.4(CACNA2D1):c.2780+16A>G rs182676195
NM_000722.4(CACNA2D1):c.2781-16T>A
NM_000722.4(CACNA2D1):c.2781-16del rs758260884
NM_000722.4(CACNA2D1):c.2781-16dup rs758260884
NM_000722.4(CACNA2D1):c.2790A>T (p.Leu930=)
NM_000722.4(CACNA2D1):c.2811G>A (p.Leu937=) rs2484425341
NM_000722.4(CACNA2D1):c.2821C>T (p.Arg941Ter) rs1346738610
NM_000722.4(CACNA2D1):c.2835A>T (p.Ala945=) rs748988843
NM_000722.4(CACNA2D1):c.2836+19C>G rs2484424120
NM_000722.4(CACNA2D1):c.2837-10_2837-4del rs2484411331
NM_000722.4(CACNA2D1):c.2837-4C>G rs1584191523
NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly) rs750969626
NM_000722.4(CACNA2D1):c.2893G>A (p.Glu965Lys)
NM_000722.4(CACNA2D1):c.2895A>G (p.Glu965=) rs895334993
NM_000722.4(CACNA2D1):c.2914G>T (p.Asp972Tyr) rs776720930
NM_000722.4(CACNA2D1):c.2939G>C (p.Gly980Ala) rs1173558405
NM_000722.4(CACNA2D1):c.2944T>A (p.Leu982Ile) rs1391044777
NM_000722.4(CACNA2D1):c.295-7T>A rs2488142522
NM_000722.4(CACNA2D1):c.295-9del rs1795913550
NM_000722.4(CACNA2D1):c.2958C>T (p.Asn986=) rs2130246839
NM_000722.4(CACNA2D1):c.2966+1G>A
NM_000722.4(CACNA2D1):c.2966+4ATTT[2] rs754772847
NM_000722.4(CACNA2D1):c.2966+8A>G rs2484405631
NM_000722.4(CACNA2D1):c.2969T>A (p.Ile990Asn) rs2130187077
NM_000722.4(CACNA2D1):c.296G>A (p.Arg99His) rs562957992
NM_000722.4(CACNA2D1):c.2997C>T (p.Thr999=) rs1237376693
NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs) rs1554327285
NM_000722.4(CACNA2D1):c.3033A>G (p.Thr1011=) rs1300446703
NM_000722.4(CACNA2D1):c.3054G>T (p.Leu1018=)
NM_000722.4(CACNA2D1):c.3065C>A (p.Ala1022Glu) rs747500641
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val) rs747500641
NM_000722.4(CACNA2D1):c.3076+14T>C
NM_000722.4(CACNA2D1):c.3077-19C>G
NM_000722.4(CACNA2D1):c.3077-37_3077-12dup rs2484347747
NM_000722.4(CACNA2D1):c.3077-4_3077-3del rs773360358
NM_000722.4(CACNA2D1):c.3077-9C>T rs2130173741
NM_000722.4(CACNA2D1):c.310G>A (p.Ala104Thr) rs1296231803
NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser) rs1239458608
NM_000722.4(CACNA2D1):c.3158T>C (p.Leu1053Ser)
NM_000722.4(CACNA2D1):c.3159+16T>C
NM_000722.4(CACNA2D1):c.3159+8C>A
NM_000722.4(CACNA2D1):c.3160-18_3160-17dup rs367960608
NM_000722.4(CACNA2D1):c.3160-18dup rs367960608
NM_000722.4(CACNA2D1):c.3160-19_3160-15del rs778907208
NM_000722.4(CACNA2D1):c.3160-19_3160-16del rs548221134
NM_000722.4(CACNA2D1):c.3160-1G>A
NM_000722.4(CACNA2D1):c.3160-9T>A rs1792390693
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe) rs2484192896
NM_000722.4(CACNA2D1):c.3173_3176dup (p.Cys1059Ter) rs2484192741
NM_000722.4(CACNA2D1):c.31C>T (p.Leu11=) rs1830666860
NM_000722.4(CACNA2D1):c.3201C>T (p.Pro1067=) rs768028784
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His) rs2129931750
NM_000722.4(CACNA2D1):c.3212A>C (p.Tyr1071Ser) rs956966352
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His) rs143631985
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu) rs143631985
NM_000722.4(CACNA2D1):c.327A>C (p.Ala109=) rs1795907782
NM_000722.4(CACNA2D1):c.355-10T>G rs1461932151
NM_000722.4(CACNA2D1):c.355-13T>C
NM_000722.4(CACNA2D1):c.355-14_355-13dup rs142849270
NM_000722.4(CACNA2D1):c.355-14dup rs142849270
NM_000722.4(CACNA2D1):c.355-15_355-14del
NM_000722.4(CACNA2D1):c.355-5del rs142849270
NM_000722.4(CACNA2D1):c.359A>G (p.Asn120Ser)
NM_000722.4(CACNA2D1):c.364G>A (p.Val122Ile)
NM_000722.4(CACNA2D1):c.378T>C (p.Asn126=) rs2487477741
NM_000722.4(CACNA2D1):c.392T>A (p.Leu131His)
NM_000722.4(CACNA2D1):c.393C>G (p.Leu131=) rs965520280
NM_000722.4(CACNA2D1):c.396+14G>A
NM_000722.4(CACNA2D1):c.396+8T>G rs2487476888
NM_000722.4(CACNA2D1):c.397-4A>G rs917105846
NM_000722.4(CACNA2D1):c.397-9T>C rs2487083397
NM_000722.4(CACNA2D1):c.434T>C (p.Ile145Thr)
NM_000722.4(CACNA2D1):c.437A>T (p.Lys146Ile)
NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser) rs869025369
NM_000722.4(CACNA2D1):c.43C>G (p.Gln15Glu) rs774697812
NM_000722.4(CACNA2D1):c.454G>A (p.Asp152Asn) rs2487080147
NM_000722.4(CACNA2D1):c.455A>G (p.Asp152Gly) rs1414169983
NM_000722.4(CACNA2D1):c.457G>A (p.Ala153Thr) rs1163800062
NM_000722.4(CACNA2D1):c.47C>T (p.Ser16Phe) rs1274978372
NM_000722.4(CACNA2D1):c.480T>G (p.Ser160=) rs1193714632
NM_000722.4(CACNA2D1):c.482A>G (p.Tyr161Cys) rs752496490
NM_000722.4(CACNA2D1):c.508A>G (p.Thr170Ala) rs2487077468
NM_000722.4(CACNA2D1):c.527-10T>G
NM_000722.4(CACNA2D1):c.527-3T>C rs1554398187
NM_000722.4(CACNA2D1):c.527-6dup rs754041784
NM_000722.4(CACNA2D1):c.54C>T (p.Leu18=) rs2129460343
NM_000722.4(CACNA2D1):c.551A>G (p.Asn184Ser) rs1434289035
NM_000722.4(CACNA2D1):c.572_574del (p.Glu191del)
NM_000722.4(CACNA2D1):c.57C>G (p.Ile19Met) rs770350248
NM_000722.4(CACNA2D1):c.57C>T (p.Ile19=) rs770350248
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn) rs1035408693
NM_000722.4(CACNA2D1):c.58G>C (p.Gly20Arg) rs201211703
NM_000722.4(CACNA2D1):c.603T>G (p.Pro201=) rs1584688167
NM_000722.4(CACNA2D1):c.655C>T (p.Pro219Ser) rs2486412717
NM_000722.4(CACNA2D1):c.658+7G>A
NM_000722.4(CACNA2D1):c.659-14T>A rs2128985236
NM_000722.4(CACNA2D1):c.659-19_659-17del rs764371870
NM_000722.4(CACNA2D1):c.659-21_659-17del rs1562992730
NM_000722.4(CACNA2D1):c.659-23CT[4] rs66474649
NM_000722.4(CACNA2D1):c.693T>C (p.Asn231=) rs1172981825
NM_000722.4(CACNA2D1):c.69G>T (p.Ser23=) rs1410295138
NM_000722.4(CACNA2D1):c.703C>A (p.Leu235Ile)
NM_000722.4(CACNA2D1):c.717C>G (p.Arg239=) rs2486137783
NM_000722.4(CACNA2D1):c.728+13A>G
NM_000722.4(CACNA2D1):c.729-10T>C rs2486107886
NM_000722.4(CACNA2D1):c.729-16A>G rs2486108017
NM_000722.4(CACNA2D1):c.729-4T>C rs756029866
NM_000722.4(CACNA2D1):c.77C>A (p.Pro26Gln) rs1379575076
NM_000722.4(CACNA2D1):c.780-12G>A rs780057040
NM_000722.4(CACNA2D1):c.822A>G (p.Thr274=) rs756643377
NM_000722.4(CACNA2D1):c.831C>G (p.Ser277=) rs144936173
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=) rs144936173
NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr) rs2486042394
NM_000722.4(CACNA2D1):c.845C>A (p.Thr282Asn) rs2486042272
NM_000722.4(CACNA2D1):c.858T>C (p.Asp286=) rs2486042161
NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met) rs759152665
NM_000722.4(CACNA2D1):c.891T>C (p.Asn297=) rs1803540058
NM_000722.4(CACNA2D1):c.901G>C (p.Val301Leu) rs2131202672
NM_000722.4(CACNA2D1):c.90C>T (p.Ala30=)
NM_000722.4(CACNA2D1):c.930A>G (p.Ala310=) rs2131202393
NM_000722.4(CACNA2D1):c.933T>C (p.Asn311=) rs748560216
NM_000722.4(CACNA2D1):c.95+17G>A rs773632215
NM_000722.4(CACNA2D1):c.95+19C>G rs770049522
NM_000722.4(CACNA2D1):c.95+1G>A rs1554560384
NM_000722.4(CACNA2D1):c.95+5G>A rs2492771527
NM_000722.4(CACNA2D1):c.95+7C>G rs1440293365
NM_000722.4(CACNA2D1):c.961G>A (p.Ala321Thr) rs747509072
NM_000722.4(CACNA2D1):c.962C>T (p.Ala321Val)
NM_000722.4(CACNA2D1):c.969T>A (p.Asn323Lys) rs1060503151
NM_000722.4(CACNA2D1):c.987A>G (p.Gly329=) rs2485699416

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.