ClinVar Miner

List of variants studied for Long QT syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 661
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1685+36A>G rs163150 0.66158
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.38574
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16679
NC_000019.10:g.46601278T>A rs150954567 0.16071
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07704
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02240
NM_001743.6(CALM2):c.421+18A>G rs2016682 0.02085
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01143
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01074
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00801
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00756
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00680
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00485
NM_001743.6(CALM2):c.240A>T (p.Thr80=) rs77653008 0.00461
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00422
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00321
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00302
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00263
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00262
NM_005184.4(CALM3):c.306C>T (p.Ser102=) rs146819515 0.00227
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_005184.4(CALM3):c.267G>A (p.Ala89=) rs115265989 0.00146
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00137
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00130
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_005184.4(CALM3):c.178+18C>T rs180722019 0.00108
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00088
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_001743.6(CALM2):c.243C>T (p.Asp81=) rs141298844 0.00056
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00039
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00038
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_000218.3(KCNQ1):c.-55G>C rs562468879 0.00030
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00027
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00024
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00017
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00017
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00017
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_005184.4(CALM3):c.309C>T (p.Ala103=) rs200095251 0.00015
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.*392A>C rs868129989 0.00010
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_001743.6(CALM2):c.178+12A>G rs376209800 0.00007
NM_005184.4(CALM3):c.237C>T (p.Asp79=) rs147734536 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_000218.3(KCNQ1):c.*1055C>T rs375155898 0.00006
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00006
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_005184.4(CALM3):c.444A>T (p.Ala148=) rs779594484 0.00006
NM_000218.3(KCNQ1):c.*581T>C rs765566577 0.00005
NM_000218.3(KCNQ1):c.*712G>A rs745447199 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00005
NM_000218.3(KCNQ1):c.780+12G>A rs200796314 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_001743.6(CALM2):c.348G>A (p.Lys116=) rs546507069 0.00005
NM_001743.6(CALM2):c.421+3A>G rs372947059 0.00005
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_000218.3(KCNQ1):c.*240C>T rs773743391 0.00004
NM_000218.3(KCNQ1):c.*730C>T rs930321240 0.00004
NM_000218.3(KCNQ1):c.-38C>T rs886048160 0.00004
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_001743.6(CALM2):c.285+5G>A rs760654198 0.00004
NM_001743.6(CALM2):c.421+10T>G rs1193912501 0.00004
NM_000218.3(KCNQ1):c.*171G>A rs886048168 0.00003
NM_000218.3(KCNQ1):c.*66C>T rs994976684 0.00003
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00003
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser) rs552087428 0.00003
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_001148.6(ANK2):c.10447G>A (p.Asp3483Asn) rs1323284534 0.00003
NM_001743.6(CALM2):c.4-10C>T rs375578672 0.00003
NM_005184.4(CALM3):c.285+17A>G rs149759804 0.00003
NM_005184.4(CALM3):c.324C>T (p.His108=) rs45587137 0.00003
NM_005184.4(CALM3):c.35-13C>G rs369539598 0.00003
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) rs961090757 0.00003
NM_000218.3(KCNQ1):c.*290A>G rs765204255 0.00002
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00002
NM_001743.6(CALM2):c.179-15A>G rs747307571 0.00002
NM_001743.6(CALM2):c.285+9A>G rs1687184796 0.00002
NM_001743.6(CALM2):c.420A>G (p.Glu140=) rs201444040 0.00002
NM_001743.6(CALM2):c.421+19C>T rs779412690 0.00002
NM_005184.4(CALM3):c.12G>A (p.Gln4=) rs746427314 0.00002
NM_005184.4(CALM3):c.178+17G>A rs764944151 0.00002
NM_005184.4(CALM3):c.249G>A (p.Glu83=) rs755348000 0.00002
NM_005184.4(CALM3):c.318G>T (p.Leu106=) rs773943649 0.00002
NM_005184.4(CALM3):c.35-10C>T rs748438358 0.00002
NM_005184.4(CALM3):c.354C>T (p.Thr118=) rs750712140 0.00002
NM_000218.3(KCNQ1):c.*295G>A rs1296388392 0.00001
NM_000218.3(KCNQ1):c.*47A>C rs754931159 0.00001
NM_000218.3(KCNQ1):c.*633G>A rs886048173 0.00001
NM_000218.3(KCNQ1):c.*652G>A rs886048174 0.00001
NM_000218.3(KCNQ1):c.*81C>T rs771815387 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) rs120074183 0.00001
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072 0.00001
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410 0.00001
NM_000218.3(KCNQ1):c.1251+9C>A rs373467697 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln) rs753962384 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu) rs199472792 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1794+12C>T rs727505084 0.00001
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) rs1456989889 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) rs1848319199 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro) rs199473399 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460 0.00001
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) rs757523692 0.00001
NM_001743.6(CALM2):c.123G>A (p.Gly41=) rs369374910 0.00001
NM_001743.6(CALM2):c.165A>G (p.Glu55=) rs1687190320 0.00001
NM_001743.6(CALM2):c.178+17G>A rs934381253 0.00001
NM_001743.6(CALM2):c.178+7C>G rs548280442 0.00001
NM_001743.6(CALM2):c.261A>G (p.Arg87=) rs765564888 0.00001
NM_001743.6(CALM2):c.285+14_285+20del rs1481884663 0.00001
NM_001743.6(CALM2):c.286-14A>T rs1325884656 0.00001
NM_001743.6(CALM2):c.3+20G>T rs1312760543 0.00001
NM_001743.6(CALM2):c.3+9A>C rs749288383 0.00001
NM_001743.6(CALM2):c.336C>T (p.Asn112=) rs751334551 0.00001
NM_001743.6(CALM2):c.33A>G (p.Ala11=) rs1324754202 0.00001
NM_001743.6(CALM2):c.35-12T>C rs1309840729 0.00001
NM_001743.6(CALM2):c.379A>G (p.Arg127Gly) rs775065505 0.00001
NM_001743.6(CALM2):c.417T>C (p.Tyr139=) rs2103823534 0.00001
NM_001743.6(CALM2):c.421+4A>C rs1252438753 0.00001
NM_001743.6(CALM2):c.79A>T (p.Thr27Ser) rs1131691669 0.00001
NM_003098.3(SNTA1):c.-6G>A rs1990637527 0.00001
NM_005184.4(CALM3):c.108G>A (p.Val36=) rs1173698699 0.00001
NM_005184.4(CALM3):c.138A>G (p.Glu46=) rs1454292329 0.00001
NM_005184.4(CALM3):c.147G>A (p.Leu49=) rs760657005 0.00001
NM_005184.4(CALM3):c.165G>A (p.Glu55=) rs764047686 0.00001
NM_005184.4(CALM3):c.178+12A>G rs753670904 0.00001
NM_005184.4(CALM3):c.178+19G>A rs186405375 0.00001
NM_005184.4(CALM3):c.179-13C>T rs764890178 0.00001
NM_005184.4(CALM3):c.179-18C>T rs761694804 0.00001
NM_005184.4(CALM3):c.24G>A (p.Glu8=) rs1001080500 0.00001
NM_005184.4(CALM3):c.273T>A (p.Arg91=) rs559783307 0.00001
NM_005184.4(CALM3):c.286-10C>G rs375255516 0.00001
NM_005184.4(CALM3):c.286-19C>G rs1478765429 0.00001
NM_005184.4(CALM3):c.286-4C>G rs1471091658 0.00001
NM_005184.4(CALM3):c.3+13G>A rs759824845 0.00001
NM_005184.4(CALM3):c.342G>A (p.Gly114=) rs202189304 0.00001
NM_005184.4(CALM3):c.35-18T>C rs780566686 0.00001
NM_005184.4(CALM3):c.366G>A (p.Val122=) rs1261825623 0.00001
NM_005184.4(CALM3):c.384G>A (p.Glu128=) rs1044212599 0.00001
NM_005184.4(CALM3):c.393C>T (p.Ile131=) rs751608096 0.00001
NM_005184.4(CALM3):c.4-3C>T rs756875833 0.00001
NM_005184.4(CALM3):c.402T>C (p.Asp134=) rs755022859 0.00001
NM_005184.4(CALM3):c.421+14A>G rs369796184 0.00001
NM_005184.4(CALM3):c.421+5G>A rs376694389 0.00001
NM_005184.4(CALM3):c.421+6T>G rs770764196 0.00001
NM_005184.4(CALM3):c.447G>A (p.Lys149=) rs746647108 0.00001
NM_005184.4(CALM3):c.97T>C (p.Leu33=) rs375684773 0.00001
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) rs730880044 0.00001
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr) rs146811417 0.00001
NC_000002.11:g.(?_47387915)_(47389821_?)dup
NC_000002.11:g.(?_47387915)_(47397923_?)dup
NC_000002.11:g.(?_47387915)_(47403582_?)dup
NC_000002.11:g.(?_47388842)_(47403582_?)dup
NC_000002.11:g.(?_47403560)_(47403582_?)dup
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
NC_000011.10:g.2276821_2491742del
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
NC_000011.9:g.(?_2683186)_(2683314_?)del
NC_000019.9:g.(?_47104692)_(47260195_?)dup
NC_000019.9:g.(?_47109064)_(47112410_?)dup
NM_000218.2(KCNQ1):c.478_478del rs1848316236
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
NM_000218.3(KCNQ1):c.*1088G>C rs886048177
NM_000218.3(KCNQ1):c.*125C>T rs1848376672
NM_000218.3(KCNQ1):c.*539G>C rs886048171
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.*877C>G rs763163556
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del) rs397508069
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu) rs2493696301
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala)
NM_000218.3(KCNQ1):c.1032+2T>C rs1848538318
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1033-2del
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) rs397508073
NM_000218.3(KCNQ1):c.1067AGCAGA[1] (p.Lys358_Gln359del) rs397508074
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del) rs2493700787
NM_000218.3(KCNQ1):c.1083_1088dup (p.Lys362_His363insGlnLys) rs397508076
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu) rs775362401
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter) rs1564825392
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) rs1564825414
NM_000218.3(KCNQ1):c.1128+1G>T rs397508078
NM_000218.3(KCNQ1):c.1128+4dup rs2493701056
NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys) rs1848609806
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1174_1176dup (p.Trp392_Lys393insTrp) rs397508080
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs) rs1848613169
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs) rs2493705722
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1251+1G>A rs1589968661
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs) rs397508083
NM_000218.3(KCNQ1):c.1264A>G (p.Lys422Glu) rs1589969375
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs) rs1848629484
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) rs397508085
NM_000218.3(KCNQ1):c.1293dup (p.Thr432fs) rs397508086
NM_000218.3(KCNQ1):c.1325del (p.His442fs) rs1135401944
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1345dup (p.Glu449fs) rs397508089
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1432del (p.His478fs)
NM_000218.3(KCNQ1):c.1451_1452del (p.Ser484fs)
NM_000218.3(KCNQ1):c.1454_1458del (p.Ser484_Phe485insTer)
NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter) rs1205552952
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) rs1254052516
NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs) rs878854349
NM_000218.3(KCNQ1):c.1487del (p.Leu496fs) rs2493870444
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+1G>A rs397508093
NM_000218.3(KCNQ1):c.1515-4G>A
NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs) rs397508094
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) rs1564886349
NM_000218.3(KCNQ1):c.1539del (p.Ile514fs) rs397508095
NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr) rs199472786
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) rs1846542419
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val) rs199472791
NM_000218.3(KCNQ1):c.1576A>C (p.Lys526Gln) rs199472792
NM_000218.3(KCNQ1):c.1590+13C>A rs1846544314
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs) rs1554920580
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly) rs1554920808
NM_000218.3(KCNQ1):c.1694A>C (p.Gln565Pro) rs1846716972
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1709C>T (p.Pro570Leu) rs1590082242
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs) rs397508099
NM_000218.3(KCNQ1):c.1725_1728del (p.Val576fs) rs397508100
NM_000218.3(KCNQ1):c.1733-1G>C rs878854348
NM_000218.3(KCNQ1):c.173C>A (p.Ala58Asp)
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser) rs199473483
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys) rs199473483
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1794+1G>A rs2494146132
NM_000218.3(KCNQ1):c.1794+2_1794+5del rs1846743506
NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del) rs397508102
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) rs1280717988
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) rs1848365419
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.1996A>C (p.Thr666Pro) rs1564916586
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.248del (p.Pro83fs) rs2496742355
NM_000218.3(KCNQ1):c.287del (p.Thr96fs) rs397508108
NM_000218.3(KCNQ1):c.321G>C (p.Gln107His)
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678
NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) rs886037906
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs) rs2496742945
NM_000218.3(KCNQ1):c.363dup (p.Cys122fs) rs1554958119
NM_000218.3(KCNQ1):c.386+6T>G rs2496743199
NM_000218.3(KCNQ1):c.387-12C>T rs1445658296
NM_000218.3(KCNQ1):c.387-1G>C rs2493591370
NM_000218.3(KCNQ1):c.398del (p.Val133fs) rs2493591404
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) rs397508113
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) rs199472693
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs) rs2493667554
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.523C>T (p.Leu175Phe) rs1131692322
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro) rs120074177
NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) rs397508115
NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg) rs199473394
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) rs1848319796
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg) rs199473399
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.577T>C (p.Phe193Leu) rs397508119
NM_000218.3(KCNQ1):c.584_604+46del rs2493668013
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala) rs199472701
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.604+2T>C rs1848322089
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro) rs199472823
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.663_664dup (p.Phe222fs) rs397508121
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.684-15C>G rs752087023
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) rs199473457
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs) rs1060500626
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) rs199472716
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys) rs794728513
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro) rs199472720
NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln) rs1564821090
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.788del (p.Ile263fs) rs1564821091
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser) rs765665086
NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly) rs199473466
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.921+12A>G rs1848365236
NM_000218.3(KCNQ1):c.921+1G>A rs397508130
NM_000218.3(KCNQ1):c.921_921+2del rs397508132
NM_000218.3(KCNQ1):c.922-1G>C rs387906290
NM_000218.3(KCNQ1):c.922-2A>C rs397508133
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile) rs199472746
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser) rs1554894445
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) rs104894255
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys) rs199472755
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter) rs2493696044
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.243G>C (p.Gln81His) rs199472849
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) rs786204395
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu) rs773957909
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile) rs45608232
NM_001743.6(CALM2):c.105T>C (p.Thr35=) rs751977184
NM_001743.6(CALM2):c.106G>A (p.Val36Ile)
NM_001743.6(CALM2):c.123G>C (p.Gly41=) rs369374910
NM_001743.6(CALM2):c.157A>G (p.Ile53Val) rs1553431807
NM_001743.6(CALM2):c.16A>T (p.Thr6Ser) rs2465729741
NM_001743.6(CALM2):c.172G>C (p.Ala58Pro) rs2103825594
NM_001743.6(CALM2):c.178+10C>T rs2465709177
NM_001743.6(CALM2):c.178+10del rs2103825559
NM_001743.6(CALM2):c.178+4A>T rs1687190212
NM_001743.6(CALM2):c.178+9T>A rs2465709185
NM_001743.6(CALM2):c.179-15A>T rs747307571
NM_001743.6(CALM2):c.179-29_179-10del rs1558694867
NM_001743.6(CALM2):c.179-8C>G rs1553431791
NM_001743.6(CALM2):c.179-9C>T rs778197988
NM_001743.6(CALM2):c.182A>G (p.Asn61Ser) rs2103825319
NM_001743.6(CALM2):c.186C>A (p.Gly62=) rs1573215311
NM_001743.6(CALM2):c.203A>C (p.Glu68Ala) rs1687186092
NM_001743.6(CALM2):c.247G>A (p.Glu83Lys) rs1687185703
NM_001743.6(CALM2):c.249A>G (p.Glu83=) rs1052083582
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu) rs2465708816
NM_001743.6(CALM2):c.271C>T (p.Arg91Cys)
NM_001743.6(CALM2):c.282T>C (p.Asp94=)
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001743.6(CALM2):c.285+16G>T rs3729963
NM_001743.6(CALM2):c.285+17A>T rs773951686
NM_001743.6(CALM2):c.285+3A>G rs2465708776
NM_001743.6(CALM2):c.286-10T>A rs1558694452
NM_001743.6(CALM2):c.286-13A>C rs2465707347
NM_001743.6(CALM2):c.286-14A>G rs1325884656
NM_001743.6(CALM2):c.286-18_286-17del rs112882205
NM_001743.6(CALM2):c.286-19A>G rs1212624162
NM_001743.6(CALM2):c.286-4C>G
NM_001743.6(CALM2):c.286-4C>T
NM_001743.6(CALM2):c.286-6del rs1687167458
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) rs1573214371
NM_001743.6(CALM2):c.287A>T (p.Asp96Val) rs730882254
NM_001743.6(CALM2):c.291C>T (p.Gly97=) rs1011415595
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.299A>G (p.Tyr100Cys) rs1573214341
NM_001743.6(CALM2):c.3+11C>G
NM_001743.6(CALM2):c.3+12G>A rs928941745
NM_001743.6(CALM2):c.3+13C>T rs755994751
NM_001743.6(CALM2):c.3+15G>A
NM_001743.6(CALM2):c.3+17G>C rs2465743785
NM_001743.6(CALM2):c.3+18C>G rs1666871767
NM_001743.6(CALM2):c.3+9_3+18del rs1376441280
NM_001743.6(CALM2):c.307G>A (p.Ala103Thr) rs2465707270
NM_001743.6(CALM2):c.308C>T (p.Ala103Val) rs2465707262
NM_001743.6(CALM2):c.310G>A (p.Ala104Thr) rs2465707254
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) rs1312868284
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.34+12_34+13delinsCT rs2103844524
NM_001743.6(CALM2):c.34+16C>T
NM_001743.6(CALM2):c.34+17T>C rs2103844496
NM_001743.6(CALM2):c.34+19G>T rs1666638192
NM_001743.6(CALM2):c.34+5G>C rs2465729703
NM_001743.6(CALM2):c.342A>C (p.Gly114=) rs2465707182
NM_001743.6(CALM2):c.35-10_35-7del rs757274055
NM_001743.6(CALM2):c.35-14T>C rs1687193279
NM_001743.6(CALM2):c.35-15C>G rs2103825832
NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del) rs2465707147
NM_001743.6(CALM2):c.371A>C (p.Glu124Ala)
NM_001743.6(CALM2):c.388G>A (p.Asp130Asn) rs2103823638
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) rs1573214163
NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr) rs2103823612
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) rs1687164164
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser) rs2103823599
NM_001743.6(CALM2):c.4-15T>C rs2465729797
NM_001743.6(CALM2):c.4-17C>G rs1666639561
NM_001743.6(CALM2):c.4-19C>A rs768559585
NM_001743.6(CALM2):c.4-5T>C rs2465729775
NM_001743.6(CALM2):c.4-8C>T
NM_001743.6(CALM2):c.4-8dup rs2103844591
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_001743.6(CALM2):c.411A>G (p.Val137=) rs1573214087
NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter) rs1687163296
NM_001743.6(CALM2):c.414C>A (p.Asn138Lys) rs1553431702
NM_001743.6(CALM2):c.41A>G (p.Lys14Arg)
NM_001743.6(CALM2):c.421+11C>T rs1687162623
NM_001743.6(CALM2):c.421+13G>A rs773732456
NM_001743.6(CALM2):c.421+8T>C rs2465707007
NM_001743.6(CALM2):c.422-12C>T rs751565729
NM_001743.6(CALM2):c.422-12dup rs1326080605
NM_001743.6(CALM2):c.422-13del rs2103821563
NM_001743.6(CALM2):c.422-15C>T rs1278362133
NM_001743.6(CALM2):c.422-15CTT[2] rs775247848
NM_001743.6(CALM2):c.422-17T>C
NM_001743.6(CALM2):c.422-20G>T
NM_001743.6(CALM2):c.422-9C>T rs1391899850
NM_001743.6(CALM2):c.422-9del
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp) rs2103821507
NM_001743.6(CALM2):c.429A>G (p.Val143=) rs1400854272
NM_001743.6(CALM2):c.432A>G (p.Gln144=)
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) rs1558693760
NM_001743.6(CALM2):c.441_*4del (p.Ala148fs) rs2465704121
NM_001743.6(CALM2):c.54A>C (p.Ser18=) rs2465709449
NM_001743.6(CALM2):c.57A>G (p.Leu19=) rs754538204
NM_001743.6(CALM2):c.63C>T (p.Asp21=) rs2103825750
NM_001743.6(CALM2):c.7G>A (p.Asp3Asn)
NM_001743.6(CALM2):c.85A>G (p.Thr29Ala)
NM_001743.6(CALM2):c.9C>G (p.Asp3Glu)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_005184.4(CALM3):c.126del (p.Asn43fs)
NM_005184.4(CALM3):c.131C>T (p.Pro44Leu) rs1599758674
NM_005184.4(CALM3):c.132C>T (p.Pro44=) rs2513644456
NM_005184.4(CALM3):c.144G>A (p.Glu48=) rs1599758683
NM_005184.4(CALM3):c.147G>T (p.Leu49=) rs760657005
NM_005184.4(CALM3):c.159C>A (p.Ile53=) rs375106354
NM_005184.4(CALM3):c.159C>T (p.Ile53=) rs375106354
NM_005184.4(CALM3):c.174A>G (p.Ala58=) rs2122245693
NM_005184.4(CALM3):c.177T>C (p.Asp59=)
NM_005184.4(CALM3):c.178+16C>T
NM_005184.4(CALM3):c.179-14del rs577585466
NM_005184.4(CALM3):c.179-3del rs1446437806
NM_005184.4(CALM3):c.192T>A (p.Ile64=) rs2513644964
NM_005184.4(CALM3):c.213C>T (p.Thr71=) rs1568666350
NM_005184.4(CALM3):c.222C>A (p.Ala74=)
NM_005184.4(CALM3):c.24G>C (p.Glu8Asp) rs1001080500
NM_005184.4(CALM3):c.252G>A (p.Glu84=)
NM_005184.4(CALM3):c.259C>T (p.Arg87Ter) rs1044180500
NM_005184.4(CALM3):c.27G>A (p.Gln9=) rs1971731867
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_005184.4(CALM3):c.285+16C>T
NM_005184.4(CALM3):c.286-16T>C
NM_005184.4(CALM3):c.286-7C>A
NM_005184.4(CALM3):c.286-8dup rs2122249132
NM_005184.4(CALM3):c.286G>C (p.Asp96His) rs1060502607
NM_005184.4(CALM3):c.3+11C>T rs2122211406
NM_005184.4(CALM3):c.3+14G>C rs1326371138
NM_005184.4(CALM3):c.3+17G>A rs982176814
NM_005184.4(CALM3):c.3+18G>A rs767873951
NM_005184.4(CALM3):c.3+18dup rs761428143
NM_005184.4(CALM3):c.3+19T>G rs2065869954
NM_005184.4(CALM3):c.3+20C>T
NM_005184.4(CALM3):c.308C>T (p.Ala103Val) rs1568666713
NM_005184.4(CALM3):c.310G>A (p.Ala104Thr) rs767096742
NM_005184.4(CALM3):c.319C>T (p.Arg107Cys) rs1599759441
NM_005184.4(CALM3):c.325G>A (p.Val109Ile) rs1049107500
NM_005184.4(CALM3):c.332C>T (p.Thr111Met) rs764512871
NM_005184.4(CALM3):c.333G>A (p.Thr111=)
NM_005184.4(CALM3):c.333G>C (p.Thr111=) rs1274089736
NM_005184.4(CALM3):c.339G>C (p.Leu113=) rs143699789
NM_005184.4(CALM3):c.339G>T (p.Leu113=)
NM_005184.4(CALM3):c.34+11T>C rs1971732200
NM_005184.4(CALM3):c.34+16C>T
NM_005184.4(CALM3):c.34+3G>A rs775799940
NM_005184.4(CALM3):c.34+4A>G
NM_005184.4(CALM3):c.34+7C>G rs2122231385
NM_005184.4(CALM3):c.35-13C>A rs369539598
NM_005184.4(CALM3):c.35-14C>A rs370430097
NM_005184.4(CALM3):c.35-14C>G rs370430097
NM_005184.4(CALM3):c.35-14C>T rs370430097
NM_005184.4(CALM3):c.35-16C>T
NM_005184.4(CALM3):c.35-18T>G rs780566686
NM_005184.4(CALM3):c.35-19C>T rs757777400
NM_005184.4(CALM3):c.35-9T>C rs1262949304
NM_005184.4(CALM3):c.363G>A (p.Glu121=) rs758692040
NM_005184.4(CALM3):c.367G>A (p.Asp123Asn) rs2122249867
NM_005184.4(CALM3):c.370G>A (p.Glu124Lys) rs2513645822
NM_005184.4(CALM3):c.387T>C (p.Ala129=) rs1271316314
NM_005184.4(CALM3):c.388G>C (p.Asp130His) rs1568666846
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu) rs35617141
NM_005184.4(CALM3):c.394G>A (p.Asp132Asn) rs2122250160
NM_005184.4(CALM3):c.395A>T (p.Asp132Val) rs1057523474
NM_005184.4(CALM3):c.4-17C>G rs370333318
NM_005184.4(CALM3):c.4-5T>C rs2122231200
NM_005184.4(CALM3):c.4-6T>C rs2513641150
NM_005184.4(CALM3):c.404G>A (p.Gly135Asp) rs1471376840
NM_005184.4(CALM3):c.421+10G>T rs2513645953
NM_005184.4(CALM3):c.421+16G>A rs1367034954
NM_005184.4(CALM3):c.421+16G>C
NM_005184.4(CALM3):c.421+16G>T
NM_005184.4(CALM3):c.421+18T>C rs745577081
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005184.4(CALM3):c.422-20C>G rs757183576
NM_005184.4(CALM3):c.422-3_422-2del rs1971813349
NM_005184.4(CALM3):c.422-5C>T rs2513646331
NM_005184.4(CALM3):c.422-7T>C rs1971813201
NM_005184.4(CALM3):c.422-7_422-3del
NM_005184.4(CALM3):c.422-8C>T rs1317120997
NM_005184.4(CALM3):c.422-9A>G
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) rs1555814427
NM_005184.4(CALM3):c.426T>G (p.Phe142Leu) rs2513646355
NM_005184.4(CALM3):c.429A>G (p.Val143=) rs2122252253
NM_005184.4(CALM3):c.438G>A (p.Met146Ile)
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr) rs1971814009
NM_005184.4(CALM3):c.47C>G (p.Ala16Gly) rs1599758635
NM_005184.4(CALM3):c.51C>T (p.Phe17=) rs1272522747
NM_005184.4(CALM3):c.57C>A (p.Leu19=) rs1476616729
NM_005184.4(CALM3):c.66G>A (p.Lys22=) rs2122245298
NM_005184.4(CALM3):c.72A>G (p.Gly24=) rs2122245344
NM_005184.4(CALM3):c.75T>C (p.Asp25=) rs2513644344
NM_005184.4(CALM3):c.81T>C (p.Thr27=) rs773251048
NM_005184.4(CALM3):c.82A>G (p.Ile28Val)
NM_005184.4(CALM3):c.9C>T (p.Asp3=)
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp) rs1818400785
NM_005751.5(AKAP9):c.881T>G (p.Phe294Cys) rs1798317723

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