ClinVar Miner

List of variants in gene KCNV2

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Gene type:
ClinVar version:
Total variants: 719
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.-42C>G rs7029012 0.60151
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_133497.4(KCNV2):c.795C>G (p.Ala265=) rs12237048 0.45225
NM_133497.4(KCNV2):c.-64T>G rs11793555 0.16561
NM_133497.4(KCNV2):c.1597C>G (p.Leu533Val) rs12352254 0.15512
NM_133497.4(KCNV2):c.*6T>C rs41306094 0.10348
NM_133497.4(KCNV2):c.759A>G (p.Pro253=) rs10967709 0.10241
NM_133497.4(KCNV2):c.*262T>A rs57109373 0.08241
NM_133497.4(KCNV2):c.1386C>T (p.Asp462=) rs41312842 0.06369
NM_133497.4(KCNV2):c.978C>T (p.Asp326=) rs7860945 0.04812
NM_133497.4(KCNV2):c.915G>A (p.Val305=) rs7859993 0.04465
NM_133497.4(KCNV2):c.*308T>G rs60723920 0.01938
NM_133497.4(KCNV2):c.1616T>C (p.Leu539Pro) rs112673841 0.01355
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile) rs74587818 0.00669
NM_133497.4(KCNV2):c.854T>G (p.Met285Arg) rs148050307 0.00652
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_133497.4(KCNV2):c.*184C>T rs147633417 0.00410
NM_133497.4(KCNV2):c.144G>A (p.Glu48=) rs79889344 0.00297
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_133497.4(KCNV2):c.1308G>A (p.Val436=) rs139581747 0.00225
NM_133497.4(KCNV2):c.1026C>T (p.Ala342=) rs141789289 0.00222
NM_133497.4(KCNV2):c.*65T>A rs183191721 0.00212
NM_133497.4(KCNV2):c.-2C>T rs75316505 0.00207
NM_133497.4(KCNV2):c.1607A>G (p.Asn536Ser) rs77811928 0.00165
NM_133497.4(KCNV2):c.-111C>T rs188986938 0.00158
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_133497.4(KCNV2):c.207C>T (p.Asp69=) rs141193056 0.00099
NM_133497.4(KCNV2):c.*170A>G rs10967769 0.00094
NM_133497.4(KCNV2):c.121G>A (p.Ala41Thr) rs148031263 0.00083
NM_133497.4(KCNV2):c.610G>A (p.Glu204Lys) rs200983782 0.00083
NM_133497.4(KCNV2):c.828G>A (p.Ala276=) rs144330480 0.00076
NM_133497.4(KCNV2):c.654C>T (p.His218=) rs372007584 0.00073
NM_133497.4(KCNV2):c.991G>T (p.Ala331Ser) rs545829113 0.00066
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_133497.4(KCNV2):c.920T>G (p.Met307Arg) rs201074293 0.00054
NM_133497.4(KCNV2):c.1356+15C>T rs201201478 0.00053
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_133497.4(KCNV2):c.1355C>T (p.Ala452Val) rs139767162 0.00043
NM_133497.4(KCNV2):c.16G>C (p.Glu6Gln) rs143189186 0.00038
NM_133497.4(KCNV2):c.-69G>A rs571461805 0.00036
NM_133497.4(KCNV2):c.1455C>T (p.Asn485=) rs112479446 0.00035
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_133497.4(KCNV2):c.1148G>T (p.Arg383Leu) rs141881396 0.00031
NM_133497.4(KCNV2):c.833C>T (p.Ala278Val) rs140144634 0.00027
NM_133497.4(KCNV2):c.85A>G (p.Ser29Gly) rs145394914 0.00026
NM_133497.4(KCNV2):c.-145T>C rs528809457 0.00024
NM_133497.4(KCNV2):c.946G>C (p.Glu316Gln) rs761886297 0.00024
NM_133497.4(KCNV2):c.1040A>T (p.Tyr347Phe) rs530163400 0.00023
NM_133497.4(KCNV2):c.-36C>T rs369580579 0.00019
NM_133497.4(KCNV2):c.1043T>C (p.Leu348Pro) rs201425989 0.00016
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val) rs200444639 0.00016
NM_133497.4(KCNV2):c.903C>T (p.Ile301=) rs769997052 0.00016
NM_133497.4(KCNV2):c.1041C>T (p.Tyr347=) rs763838984 0.00014
NM_133497.4(KCNV2):c.1191G>T (p.Leu397=) rs367972852 0.00014
NM_133497.4(KCNV2):c.258C>G (p.Pro86=) rs143109320 0.00014
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu) rs146659188 0.00014
NM_133497.4(KCNV2):c.280G>A (p.Ala94Thr) rs148550258 0.00012
NM_133497.4(KCNV2):c.1118G>C (p.Gly373Ala) rs201564009 0.00011
NM_133497.4(KCNV2):c.1262G>A (p.Gly421Asp) rs563513486 0.00011
NM_133497.4(KCNV2):c.1513G>T (p.Ala505Ser) rs192224431 0.00011
NM_133497.4(KCNV2):c.245C>T (p.Thr82Ile) rs370044423 0.00011
NM_133497.4(KCNV2):c.349G>A (p.Gly117Ser) rs200353727 0.00011
NM_133497.4(KCNV2):c.168G>A (p.Glu56=) rs201975160 0.00010
NM_133497.4(KCNV2):c.270C>T (p.Ser90=) rs144755683 0.00009
NM_133497.4(KCNV2):c.1525A>G (p.Thr509Ala) rs140745549 0.00008
NM_133497.4(KCNV2):c.642C>G (p.Leu214=) rs368116327 0.00008
NM_133497.4(KCNV2):c.721C>T (p.Pro241Ser) rs727503975 0.00008
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu) rs757516625 0.00007
NM_133497.4(KCNV2):c.1162C>G (p.Leu388Val) rs748514014 0.00007
NM_133497.4(KCNV2):c.159C>T (p.Tyr53=) rs199694482 0.00007
NM_133497.4(KCNV2):c.430G>A (p.Glu144Lys) rs777051584 0.00007
NM_133497.4(KCNV2):c.-19G>C rs775888664 0.00006
NM_133497.4(KCNV2):c.-9T>C rs773711302 0.00006
NM_133497.4(KCNV2):c.1344G>C (p.Trp448Cys) rs143382624 0.00006
NM_133497.4(KCNV2):c.1413G>A (p.Arg471=) rs552169822 0.00006
NM_133497.4(KCNV2):c.146G>A (p.Gly49Asp) rs746448587 0.00006
NM_133497.4(KCNV2):c.164T>C (p.Ile55Thr) rs541608166 0.00006
NM_133497.4(KCNV2):c.240G>A (p.Glu80=) rs374187513 0.00006
NM_133497.4(KCNV2):c.539G>A (p.Arg180His) rs750918937 0.00006
NM_133497.4(KCNV2):c.616C>A (p.Arg206=) rs377471498 0.00006
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr) rs558295858 0.00006
NM_133497.4(KCNV2):c.731G>A (p.Arg244His) rs1023306854 0.00006
NM_133497.4(KCNV2):c.922C>G (p.Leu308Val) rs778517150 0.00006
NM_133497.4(KCNV2):c.107G>A (p.Arg36His) rs201847891 0.00005
NM_133497.4(KCNV2):c.1282G>A (p.Ala428Thr) rs142146344 0.00005
NM_133497.4(KCNV2):c.1497C>T (p.Tyr499=) rs747466519 0.00005
NM_133497.4(KCNV2):c.420C>A (p.Asp140Glu) rs886131960 0.00005
NM_133497.4(KCNV2):c.694C>A (p.Leu232Ile) rs375426599 0.00005
NM_133497.4(KCNV2):c.706A>G (p.Met236Val) rs375765488 0.00005
NM_133497.4(KCNV2):c.*131T>C rs529212879 0.00004
NM_133497.4(KCNV2):c.-204A>C rs886063816 0.00004
NM_133497.4(KCNV2):c.1299G>A (p.Glu433=) rs759838750 0.00004
NM_133497.4(KCNV2):c.1380C>T (p.Tyr460=) rs367634793 0.00004
NM_133497.4(KCNV2):c.145G>A (p.Gly49Ser) rs777604507 0.00004
NM_133497.4(KCNV2):c.166G>A (p.Glu56Lys) rs766443513 0.00004
NM_133497.4(KCNV2):c.180C>T (p.Asp60=) rs1403529555 0.00004
NM_133497.4(KCNV2):c.182_183insGGA (p.Gly61_Glu62insAsp) rs762687075 0.00004
NM_133497.4(KCNV2):c.201G>T (p.Trp67Cys) rs771193813 0.00004
NM_133497.4(KCNV2):c.38A>G (p.Tyr13Cys) rs774058342 0.00004
NM_133497.4(KCNV2):c.410G>A (p.Ser137Asn) rs953979254 0.00004
NM_133497.4(KCNV2):c.432G>A (p.Glu144=) rs530006522 0.00004
NM_133497.4(KCNV2):c.517C>A (p.Leu173Ile) rs760750739 0.00004
NM_133497.4(KCNV2):c.523G>A (p.Gly175Arg) rs766187569 0.00004
NM_133497.4(KCNV2):c.576C>G (p.Leu192=) rs762082451 0.00004
NM_133497.4(KCNV2):c.580T>C (p.Tyr194His) rs373342305 0.00004
NM_133497.4(KCNV2):c.594C>T (p.Cys198=) rs1049754393 0.00004
NM_133497.4(KCNV2):c.703G>T (p.Asp235Tyr) rs371445689 0.00004
NM_133497.4(KCNV2):c.820G>A (p.Val274Met) rs754107665 0.00004
NM_133497.4(KCNV2):c.822G>A (p.Val274=) rs149605734 0.00004
NM_133497.4(KCNV2):c.872A>C (p.Gln291Pro) rs758417708 0.00004
NM_133497.4(KCNV2):c.97C>T (p.Leu33=) rs886063819 0.00004
NM_133497.4(KCNV2):c.-6G>A rs373371383 0.00003
NM_133497.4(KCNV2):c.-94A>T rs943155660 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_133497.4(KCNV2):c.1166A>C (p.Lys389Thr) rs150231850 0.00003
NM_133497.4(KCNV2):c.1177C>A (p.His393Asn) rs202139237 0.00003
NM_133497.4(KCNV2):c.136T>C (p.Trp46Arg) rs140834504 0.00003
NM_133497.4(KCNV2):c.1371C>T (p.Thr457=) rs752283303 0.00003
NM_133497.4(KCNV2):c.1384_1386del (p.Asp462del) rs1414078352 0.00003
NM_133497.4(KCNV2):c.148A>C (p.Asn50His) rs757537568 0.00003
NM_133497.4(KCNV2):c.1534C>T (p.Arg512Cys) rs537588654 0.00003
NM_133497.4(KCNV2):c.160T>C (p.Tyr54His) rs138656434 0.00003
NM_133497.4(KCNV2):c.357dup (p.Lys120fs) rs1402837406 0.00003
NM_133497.4(KCNV2):c.369A>C (p.Leu123=) rs1267844196 0.00003
NM_133497.4(KCNV2):c.398G>A (p.Ser133Asn) rs199735148 0.00003
NM_133497.4(KCNV2):c.656A>G (p.Glu219Gly) rs778833627 0.00003
NM_133497.4(KCNV2):c.666G>C (p.Ala222=) rs746837965 0.00003
NM_133497.4(KCNV2):c.684G>A (p.Glu228=) rs1011123387 0.00003
NM_133497.4(KCNV2):c.719G>A (p.Gly240Asp) rs759416842 0.00003
NM_133497.4(KCNV2):c.769G>A (p.Val257Met) rs752669658 0.00003
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_133497.4(KCNV2):c.827C>T (p.Ala276Val) rs199923365 0.00003
NM_133497.4(KCNV2):c.882C>T (p.Gly294=) rs750779235 0.00003
NM_133497.4(KCNV2):c.885C>T (p.Gly295=) rs748776845 0.00003
NM_133497.4(KCNV2):c.913G>A (p.Val305Met) rs371248089 0.00003
NM_133497.4(KCNV2):c.942G>A (p.Thr314=) rs768891775 0.00003
NM_133497.4(KCNV2):c.-180G>A rs886063817 0.00002
NM_133497.4(KCNV2):c.1001C>T (p.Ala334Val) rs758106979 0.00002
NM_133497.4(KCNV2):c.1123G>A (p.Val375Met) rs568147806 0.00002
NM_133497.4(KCNV2):c.1208C>T (p.Thr403Met) rs745375996 0.00002
NM_133497.4(KCNV2):c.1236C>T (p.Gly412=) rs758953080 0.00002
NM_133497.4(KCNV2):c.1265T>C (p.Ile422Thr) rs769184629 0.00002
NM_133497.4(KCNV2):c.1341C>T (p.Ser447=) rs559765711 0.00002
NM_133497.4(KCNV2):c.1351G>T (p.Ala451Ser) rs370789466 0.00002
NM_133497.4(KCNV2):c.1354G>A (p.Ala452Thr) rs770032221 0.00002
NM_133497.4(KCNV2):c.1356+16C>T rs750825755 0.00002
NM_133497.4(KCNV2):c.1357-6C>G rs776920442 0.00002
NM_133497.4(KCNV2):c.1408G>A (p.Gly470Ser) rs990370382 0.00002
NM_133497.4(KCNV2):c.1568G>C (p.Arg523Thr) rs369794013 0.00002
NM_133497.4(KCNV2):c.1571C>T (p.Ala524Val) rs557493684 0.00002
NM_133497.4(KCNV2):c.190G>A (p.Glu64Lys) rs146541413 0.00002
NM_133497.4(KCNV2):c.217G>C (p.Glu73Gln) rs752013234 0.00002
NM_133497.4(KCNV2):c.279G>A (p.Pro93=) rs573981437 0.00002
NM_133497.4(KCNV2):c.281C>A (p.Ala94Asp) rs755862395 0.00002
NM_133497.4(KCNV2):c.294G>A (p.Thr98=) rs1469817472 0.00002
NM_133497.4(KCNV2):c.41G>A (p.Arg14Lys) rs748032810 0.00002
NM_133497.4(KCNV2):c.431A>G (p.Glu144Gly) rs945133207 0.00002
NM_133497.4(KCNV2):c.502G>A (p.Gly168Arg) rs780340984 0.00002
NM_133497.4(KCNV2):c.516G>A (p.Val172=) rs1307513664 0.00002
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter) rs1282433030 0.00002
NM_133497.4(KCNV2):c.573G>A (p.Arg191=) rs768859361 0.00002
NM_133497.4(KCNV2):c.758C>T (p.Pro253Leu) rs760295753 0.00002
NM_133497.4(KCNV2):c.875G>A (p.Gly292Asp) rs752059245 0.00002
NM_133497.4(KCNV2):c.969C>T (p.Ser323=) rs1360001250 0.00002
NM_133497.4(KCNV2):c.-161G>A rs886063818 0.00001
NM_133497.4(KCNV2):c.1011G>A (p.Leu337=) rs968707552 0.00001
NM_133497.4(KCNV2):c.1034C>T (p.Pro345Leu) rs773122223 0.00001
NM_133497.4(KCNV2):c.1068G>T (p.Thr356=) rs771129642 0.00001
NM_133497.4(KCNV2):c.1072G>A (p.Glu358Lys) rs374211938 0.00001
NM_133497.4(KCNV2):c.1091A>G (p.Gln364Arg) rs200266207 0.00001
NM_133497.4(KCNV2):c.1092G>A (p.Gln364=) rs267602205 0.00001
NM_133497.4(KCNV2):c.1104C>T (p.Ser368=) rs960100570 0.00001
NM_133497.4(KCNV2):c.1108G>C (p.Gly370Arg) rs1307515949 0.00001
NM_133497.4(KCNV2):c.1109G>A (p.Gly370Asp) rs534563578 0.00001
NM_133497.4(KCNV2):c.1131C>T (p.Arg377=) rs767518507 0.00001
NM_133497.4(KCNV2):c.1156C>T (p.Arg386Cys) rs749775089 0.00001
NM_133497.4(KCNV2):c.1167G>C (p.Lys389Asn) rs376016220 0.00001
NM_133497.4(KCNV2):c.1174C>T (p.Arg392Cys) rs770442556 0.00001
NM_133497.4(KCNV2):c.1181C>T (p.Ser394Phe) rs1819807818 0.00001
NM_133497.4(KCNV2):c.1182C>T (p.Ser394=) rs762855201 0.00001
NM_133497.4(KCNV2):c.1226A>G (p.Gln409Arg) rs199497822 0.00001
NM_133497.4(KCNV2):c.1229A>C (p.Gln410Pro) rs574582499 0.00001
NM_133497.4(KCNV2):c.1247T>C (p.Leu416Pro) rs1444275335 0.00001
NM_133497.4(KCNV2):c.1254C>T (p.Ile418=) rs370525145 0.00001
NM_133497.4(KCNV2):c.130C>T (p.His44Tyr) rs527441501 0.00001
NM_133497.4(KCNV2):c.1319A>G (p.Asn440Ser) rs764587081 0.00001
NM_133497.4(KCNV2):c.132C>T (p.His44=) rs767774622 0.00001
NM_133497.4(KCNV2):c.133G>A (p.Gly45Ser) rs750453951 0.00001
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) rs778977288 0.00001
NM_133497.4(KCNV2):c.1356+18G>A rs766136806 0.00001
NM_133497.4(KCNV2):c.1356+9C>T rs774716111 0.00001
NM_133497.4(KCNV2):c.1356G>A (p.Ala452=) rs764608030 0.00001
NM_133497.4(KCNV2):c.1357-19T>G rs753508225 0.00001
NM_133497.4(KCNV2):c.1357-3C>T rs1041090491 0.00001
NM_133497.4(KCNV2):c.1372G>A (p.Val458Met) rs374737276 0.00001
NM_133497.4(KCNV2):c.1391A>G (p.Tyr464Cys) rs778822772 0.00001
NM_133497.4(KCNV2):c.1459A>G (p.Met487Val) rs1461711190 0.00001
NM_133497.4(KCNV2):c.1480A>C (p.Asn494His) rs566673245 0.00001
NM_133497.4(KCNV2):c.150C>A (p.Asn50Lys) rs776336282 0.00001
NM_133497.4(KCNV2):c.1518T>C (p.Tyr506=) rs548326379 0.00001
NM_133497.4(KCNV2):c.152A>G (p.Tyr51Cys) rs201072890 0.00001
NM_133497.4(KCNV2):c.1577A>C (p.Lys526Thr) rs1820033366 0.00001
NM_133497.4(KCNV2):c.1580A>G (p.Lys527Arg) rs750165805 0.00001
NM_133497.4(KCNV2):c.1581G>C (p.Lys527Asn) rs1053016624 0.00001
NM_133497.4(KCNV2):c.15T>C (p.Ser5=) rs377071035 0.00001
NM_133497.4(KCNV2):c.1630G>C (p.Glu544Gln) rs768225982 0.00001
NM_133497.4(KCNV2):c.1636T>G (p.Ter546Glu) rs1820036621 0.00001
NM_133497.4(KCNV2):c.1638G>C (p.Ter546Tyr) rs1465469369 0.00001
NM_133497.4(KCNV2):c.1A>G (p.Met1Val) rs760755040 0.00001
NM_133497.4(KCNV2):c.208G>T (p.Asp70Tyr) rs1470002004 0.00001
NM_133497.4(KCNV2):c.20G>T (p.Arg7Met) rs370186140 0.00001
NM_133497.4(KCNV2):c.220G>A (p.Glu74Lys) rs756949524 0.00001
NM_133497.4(KCNV2):c.224A>G (p.Asp75Gly) rs1819768105 0.00001
NM_133497.4(KCNV2):c.253A>G (p.Lys85Glu) rs1361483057 0.00001
NM_133497.4(KCNV2):c.257C>G (p.Pro86Arg) rs1379886188 0.00001
NM_133497.4(KCNV2):c.25C>T (p.Arg9Trp) rs746359393 0.00001
NM_133497.4(KCNV2):c.273C>A (p.Asp91Glu) rs1369300851 0.00001
NM_133497.4(KCNV2):c.278C>T (p.Pro93Leu) rs1449828854 0.00001
NM_133497.4(KCNV2):c.29C>T (p.Ser10Phe) rs768154610 0.00001
NM_133497.4(KCNV2):c.314G>A (p.Gly105Asp) rs762210764 0.00001
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter) rs1478587308 0.00001
NM_133497.4(KCNV2):c.327G>C (p.Gln109His) rs753302163 0.00001
NM_133497.4(KCNV2):c.374G>A (p.Arg125His) rs1342075631 0.00001
NM_133497.4(KCNV2):c.401G>A (p.Arg134His) rs1261691565 0.00001
NM_133497.4(KCNV2):c.407T>C (p.Leu136Pro) rs755292064 0.00001
NM_133497.4(KCNV2):c.416G>A (p.Cys139Tyr) rs1362037820 0.00001
NM_133497.4(KCNV2):c.418G>A (p.Asp140Asn) rs778345203 0.00001
NM_133497.4(KCNV2):c.451T>C (p.Phe151Leu) rs752649092 0.00001
NM_133497.4(KCNV2):c.467C>T (p.Ala156Val) rs766337592 0.00001
NM_133497.4(KCNV2):c.47G>T (p.Trp16Leu) rs1339778237 0.00001
NM_133497.4(KCNV2):c.480G>A (p.Leu160=) rs773099220 0.00001
NM_133497.4(KCNV2):c.485A>T (p.Tyr162Phe) rs149893780 0.00001
NM_133497.4(KCNV2):c.494A>G (p.Tyr165Cys) rs751644579 0.00001
NM_133497.4(KCNV2):c.505G>A (p.Val169Met) rs768242305 0.00001
NM_133497.4(KCNV2):c.514G>C (p.Val172Leu) rs773293657 0.00001
NM_133497.4(KCNV2):c.526C>T (p.Leu176=) rs764249096 0.00001
NM_133497.4(KCNV2):c.535C>T (p.Arg179Cys) rs200662596 0.00001
NM_133497.4(KCNV2):c.57G>A (p.Thr19=) rs374977862 0.00001
NM_133497.4(KCNV2):c.585G>A (p.Thr195=) rs149078148 0.00001
NM_133497.4(KCNV2):c.598C>T (p.Arg200Cys) rs1040408269 0.00001
NM_133497.4(KCNV2):c.600C>A (p.Arg200=) rs769464760 0.00001
NM_133497.4(KCNV2):c.602T>A (p.Ile201Asn) rs761992453 0.00001
NM_133497.4(KCNV2):c.60G>A (p.Glu20=) rs199939330 0.00001
NM_133497.4(KCNV2):c.618G>C (p.Arg206=) rs745790275 0.00001
NM_133497.4(KCNV2):c.633C>A (p.Ser211Arg) rs920301311 0.00001
NM_133497.4(KCNV2):c.640C>T (p.Leu214Phe) rs576345571 0.00001
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter) rs763785730 0.00001
NM_133497.4(KCNV2):c.661C>T (p.Arg221Cys) rs373963150 0.00001
NM_133497.4(KCNV2):c.671C>A (p.Ala224Glu) rs776156112 0.00001
NM_133497.4(KCNV2):c.680A>C (p.Glu227Ala) rs1294428392 0.00001
NM_133497.4(KCNV2):c.715T>C (p.Tyr239His) rs973199066 0.00001
NM_133497.4(KCNV2):c.717C>T (p.Tyr239=) rs777741747 0.00001
NM_133497.4(KCNV2):c.737T>C (p.Leu246Pro) rs1433071774 0.00001
NM_133497.4(KCNV2):c.742A>T (p.Asn248Tyr) rs368923394 0.00001
NM_133497.4(KCNV2):c.773C>T (p.Ala258Val) rs1301366734 0.00001
NM_133497.4(KCNV2):c.774C>T (p.Ala258=) rs763922419 0.00001
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp) rs755071813 0.00001
NM_133497.4(KCNV2):c.796T>G (p.Ser266Ala) rs745567670 0.00001
NM_133497.4(KCNV2):c.801C>T (p.Ser267=) rs1352587134 0.00001
NM_133497.4(KCNV2):c.813C>T (p.Leu271=) rs896414258 0.00001
NM_133497.4(KCNV2):c.818C>T (p.Ser273Phe) rs761705988 0.00001
NM_133497.4(KCNV2):c.866del (p.Ser289fs) rs758877996 0.00001
NM_133497.4(KCNV2):c.874G>A (p.Gly292Ser) rs142521710 0.00001
NM_133497.4(KCNV2):c.87C>T (p.Ser29=) rs755979460 0.00001
NM_133497.4(KCNV2):c.880G>C (p.Gly294Arg) rs1490064746 0.00001
NM_133497.4(KCNV2):c.883G>A (p.Gly295Ser) rs755751408 0.00001
NM_133497.4(KCNV2):c.884G>T (p.Gly295Val) rs1413463889 0.00001
NM_133497.4(KCNV2):c.886C>T (p.Pro296Ser) rs768276080 0.00001
NM_133497.4(KCNV2):c.921G>A (p.Met307Ile) rs773605970 0.00001
NM_133497.4(KCNV2):c.931G>C (p.Gly311Arg) rs202200956 0.00001
NM_133497.4(KCNV2):c.933C>A (p.Gly311=) rs898624331 0.00001
NM_133497.4(KCNV2):c.94T>G (p.Ser32Ala) rs1202370414 0.00001
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys) rs754275640 0.00001
NM_133497.4(KCNV2):c.975C>T (p.Pro325=) rs1275834231 0.00001
NM_133497.4(KCNV2):c.999C>T (p.Ser333=) rs946520647 0.00001
GRCh37/hg19 9p24.2(chr9:2689263-2787884)x1
NC_000009.11:g.(?_2717738)_(2719115_?)del
NC_000009.11:g.(?_2717755)_(2728666_?)del
NC_000009.11:g.(?_2717758)_(2728666_?)del
NC_000009.11:g.(?_2729426)_(2729727_?)del
NC_000009.11:g.2716981_2787016del
NC_000009.12:g.(?_2717740)_(2729727_?)del
NG_012181.1:g.5233_16321delinsCATTTG
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_133497.4(KCNV2):c.*114C>A rs1820039673
NM_133497.4(KCNV2):c.*5T>C
NM_133497.4(KCNV2):c.*90A>G rs886063832
NM_133497.4(KCNV2):c.-15C>T rs181712064
NM_133497.4(KCNV2):c.1000G>A (p.Ala334Thr) rs1329374024
NM_133497.4(KCNV2):c.1007ACCTGGTGG[1] (p.Asp339_Val341del) rs786205064
NM_133497.4(KCNV2):c.1009C>T (p.Leu337=) rs751106123
NM_133497.4(KCNV2):c.1012G>A (p.Val338Met) rs1819799162
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
NM_133497.4(KCNV2):c.1019T>C (p.Leu340Pro)
NM_133497.4(KCNV2):c.102T>C (p.Gly34=) rs2130860045
NM_133497.4(KCNV2):c.1030C>A (p.Leu344Met) rs1819800386
NM_133497.4(KCNV2):c.1035G>C (p.Pro345=) rs747113494
NM_133497.4(KCNV2):c.1035G>T (p.Pro345=)
NM_133497.4(KCNV2):c.103G>A (p.Ala35Thr) rs771666119
NM_133497.4(KCNV2):c.1040A>G (p.Tyr347Cys)
NM_133497.4(KCNV2):c.1043T>G (p.Leu348Arg)
NM_133497.4(KCNV2):c.1049T>G (p.Leu350Arg) rs1819801593
NM_133497.4(KCNV2):c.1049_1052dup (p.Leu352fs) rs886063821
NM_133497.4(KCNV2):c.1054C>T (p.Leu352Phe)
NM_133497.4(KCNV2):c.1056C>G (p.Leu352=)
NM_133497.4(KCNV2):c.1057G>C (p.Glu353Gln) rs369069912
NM_133497.4(KCNV2):c.1057G>T (p.Glu353Ter)
NM_133497.4(KCNV2):c.1061G>A (p.Cys354Tyr)
NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu) rs75645675
NM_133497.4(KCNV2):c.1063T>G (p.Phe355Val) rs75645675
NM_133497.4(KCNV2):c.1068G>A (p.Thr356=) rs771129642
NM_133497.4(KCNV2):c.1074G>C (p.Glu358Asp) rs1229495796
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) rs1554628460
NM_133497.4(KCNV2):c.1085G>A (p.Arg362His) rs766985581
NM_133497.4(KCNV2):c.1089C>G (p.Gly363=) rs1819803957
NM_133497.4(KCNV2):c.1095G>A (p.Thr365=)
NM_133497.4(KCNV2):c.1096del (p.Val366fs) rs1486482604
NM_133497.4(KCNV2):c.10C>G (p.Gln4Glu)
NM_133497.4(KCNV2):c.1108_1195del (p.Gly370fs)
NM_133497.4(KCNV2):c.1109G>C (p.Gly370Ala) rs534563578
NM_133497.4(KCNV2):c.1120C>G (p.Gln374Glu) rs1313318182
NM_133497.4(KCNV2):c.1126T>A (p.Leu376Met) rs1819805245
NM_133497.4(KCNV2):c.1129C>A (p.Arg377Ser) rs143664586
NM_133497.4(KCNV2):c.1129C>G (p.Arg377Gly)
NM_133497.4(KCNV2):c.1131C>G (p.Arg377=) rs767518507
NM_133497.4(KCNV2):c.1132G>A (p.Val378Ile) rs752928296
NM_133497.4(KCNV2):c.1132G>T (p.Val378Phe)
NM_133497.4(KCNV2):c.1135A>G (p.Met379Val)
NM_133497.4(KCNV2):c.1136T>G (p.Met379Arg)
NM_133497.4(KCNV2):c.1137G>A (p.Met379Ile) rs1819805927
NM_133497.4(KCNV2):c.1139G>T (p.Arg380Leu)
NM_133497.4(KCNV2):c.1141_1149dup (p.Leu381_Arg383dup) rs745311059
NM_133497.4(KCNV2):c.1144A>G (p.Met382Val) rs757516625
NM_133497.4(KCNV2):c.1148G>A (p.Arg383His) rs141881396
NM_133497.4(KCNV2):c.1149C>T (p.Arg383=)
NM_133497.4(KCNV2):c.1154T>C (p.Phe385Ser) rs1366341886
NM_133497.4(KCNV2):c.1156_1164del (p.Arg386_Leu388del)
NM_133497.4(KCNV2):c.1162_1164del (p.Leu388del)
NM_133497.4(KCNV2):c.1171G>A (p.Ala391Thr)
NM_133497.4(KCNV2):c.1179C>G (p.His393Gln)
NM_133497.4(KCNV2):c.1185C>G (p.Thr395=)
NM_133497.4(KCNV2):c.1186G>A (p.Gly396Arg) rs138924201
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter) rs138924201
NM_133497.4(KCNV2):c.118C>G (p.Gln40Glu) rs759192531
NM_133497.4(KCNV2):c.1193G>A (p.Arg398His)
NM_133497.4(KCNV2):c.1199del (p.Phe400fs) rs768486552
NM_133497.4(KCNV2):c.1200C>T (p.Phe400=)
NM_133497.4(KCNV2):c.1203C>T (p.Gly401=) rs770511296
NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro) rs1819808781
NM_133497.4(KCNV2):c.1228C>A (p.Gln410Lys)
NM_133497.4(KCNV2):c.1258A>G (p.Met420Val) rs1413316237
NM_133497.4(KCNV2):c.125G>C (p.Ser42Thr)
NM_133497.4(KCNV2):c.1274T>C (p.Phe425Ser)
NM_133497.4(KCNV2):c.1278T>G (p.Ser426=) rs1357257500
NM_133497.4(KCNV2):c.127A>T (p.Ile43Phe)
NM_133497.4(KCNV2):c.127_128delinsTA (p.Ile43Tyr) rs2130860083
NM_133497.4(KCNV2):c.1280C>A (p.Ala427Glu)
NM_133497.4(KCNV2):c.1288T>C (p.Tyr430His)
NM_133497.4(KCNV2):c.128T>A (p.Ile43Asn)
NM_133497.4(KCNV2):c.1294G>A (p.Val432Met)
NM_133497.4(KCNV2):c.1295_1296del (p.Val432fs) rs1318199256
NM_133497.4(KCNV2):c.12G>A (p.Gln4=)
NM_133497.4(KCNV2):c.1303G>A (p.Asp435Asn) rs376306786
NM_133497.4(KCNV2):c.1303G>T (p.Asp435Tyr) rs376306786
NM_133497.4(KCNV2):c.1317_1318delinsTT (p.Asn440Tyr) rs2130862054
NM_133497.4(KCNV2):c.1322T>C (p.Phe441Ser) rs2130862066
NM_133497.4(KCNV2):c.1324A>G (p.Thr442Ala) rs2130862070
NM_133497.4(KCNV2):c.1328C>T (p.Thr443Ile)
NM_133497.4(KCNV2):c.1331T>C (p.Ile444Thr)
NM_133497.4(KCNV2):c.1334C>T (p.Pro445Leu)
NM_133497.4(KCNV2):c.1336C>G (p.His446Asp) rs755848294
NM_133497.4(KCNV2):c.1336dup (p.His446fs)
NM_133497.4(KCNV2):c.1341C>G (p.Ser447=) rs559765711
NM_133497.4(KCNV2):c.1343G>T (p.Trp448Leu)
NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg) rs748180390
NM_133497.4(KCNV2):c.1351G>A (p.Ala451Thr) rs370789466
NM_133497.4(KCNV2):c.1356+11T>A
NM_133497.4(KCNV2):c.1356+15C>G
NM_133497.4(KCNV2):c.1356+17T>G
NM_133497.4(KCNV2):c.1356+3_1356+6del rs748084580
NM_133497.4(KCNV2):c.1356+4A>T rs2130862121
NM_133497.4(KCNV2):c.1357-19T>C rs753508225
NM_133497.4(KCNV2):c.1357-4A>G rs1395688495
NM_133497.4(KCNV2):c.1357-9C>T rs1820024800
NM_133497.4(KCNV2):c.1372G>C (p.Val458Leu) rs374737276
NM_133497.4(KCNV2):c.1375G>T (p.Gly459Cys)
NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp) rs104894115
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133497.4(KCNV2):c.1388T>C (p.Met463Thr) rs773096508
NM_133497.4(KCNV2):c.1388T>G (p.Met463Arg) rs773096508
NM_133497.4(KCNV2):c.1404C>T (p.His468=) rs372176253
NM_133497.4(KCNV2):c.1409G>A (p.Gly470Asp) rs777154728
NM_133497.4(KCNV2):c.140C>T (p.Thr47Ile)
NM_133497.4(KCNV2):c.1411A>T (p.Arg471Trp) rs1820027191
NM_133497.4(KCNV2):c.1419T>C (p.Phe473=)
NM_133497.4(KCNV2):c.1426C>G (p.Leu476Val)
NM_133497.4(KCNV2):c.1436C>G (p.Ala479Gly) rs369942348
NM_133497.4(KCNV2):c.1440T>C (p.Phe480=)
NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg) rs1586692857
NM_133497.4(KCNV2):c.1452C>G (p.Leu484=)
NM_133497.4(KCNV2):c.1458G>A (p.Gly486=) rs1434560252
NM_133497.4(KCNV2):c.1475T>C (p.Leu492Pro) rs2130869375
NM_133497.4(KCNV2):c.1479CAA[1] (p.Asn494del)
NM_133497.4(KCNV2):c.148A>G (p.Asn50Asp) rs757537568
NM_133497.4(KCNV2):c.149A>G (p.Asn50Ser) rs770575580
NM_133497.4(KCNV2):c.1500C>G (p.Tyr500Ter)
NM_133497.4(KCNV2):c.1503_1512del (p.Ser501fs) rs1820030325
NM_133497.4(KCNV2):c.1521G>A (p.Glu507=)
NM_133497.4(KCNV2):c.1526C>A (p.Thr509Asn) rs770113041
NM_133497.4(KCNV2):c.1534C>A (p.Arg512Ser)
NM_133497.4(KCNV2):c.1535G>A (p.Arg512His) rs371862412
NM_133497.4(KCNV2):c.153T>A (p.Tyr51Ter)
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter) rs950492553
NM_133497.4(KCNV2):c.1541A>G (p.Glu514Gly)
NM_133497.4(KCNV2):c.1552G>C (p.Val518Leu)
NM_133497.4(KCNV2):c.1552G>T (p.Val518Leu) rs2130869457
NM_133497.4(KCNV2):c.1569_1570del (p.Arg523fs)
NM_133497.4(KCNV2):c.1570G>A (p.Ala524Thr)
NM_133497.4(KCNV2):c.1583T>C (p.Ile528Thr)
NM_133497.4(KCNV2):c.1593T>C (p.Cys531=)
NM_133497.4(KCNV2):c.1609C>T (p.Pro537Ser) rs757778905
NM_133497.4(KCNV2):c.1613A>T (p.Gln538Leu)
NM_133497.4(KCNV2):c.161A>C (p.Tyr54Ser) rs1819763573
NM_133497.4(KCNV2):c.1620C>G (p.Thr540=)
NM_133497.4(KCNV2):c.1620C>T (p.Thr540=) rs748924069
NM_133497.4(KCNV2):c.1621C>T (p.Pro541Ser) rs1820036201
NM_133497.4(KCNV2):c.1622C>G (p.Pro541Arg) rs543865855
NM_133497.4(KCNV2):c.1630G>T (p.Glu544Ter)
NM_133497.4(KCNV2):c.1637A>C (p.Ter546Ser) rs2130869560
NM_133497.4(KCNV2):c.168G>C (p.Glu56Asp) rs201975160
NM_133497.4(KCNV2):c.170A>C (p.Glu57Ala) rs1819764161
NM_133497.4(KCNV2):c.178G>C (p.Asp60His) rs1819764524
NM_133497.4(KCNV2):c.182G>T (p.Gly61Val)
NM_133497.4(KCNV2):c.182_183insGGG (p.Gly61_Glu62insGly)
NM_133497.4(KCNV2):c.183C>T (p.Gly61=)
NM_133497.4(KCNV2):c.183_184delinsGA (p.Glu62Lys) rs1819765042
NM_133497.4(KCNV2):c.184G>A (p.Glu62Lys)
NM_133497.4(KCNV2):c.186G>A (p.Glu62=)
NM_133497.4(KCNV2):c.186GGA[2] (p.Glu64del) rs774310851
NM_133497.4(KCNV2):c.192G>A (p.Glu64=) rs561533607
NM_133497.4(KCNV2):c.192G>C (p.Glu64Asp) rs561533607
NM_133497.4(KCNV2):c.193G>A (p.Asp65Asn) rs745416881
NM_133497.4(KCNV2):c.193G>T (p.Asp65Tyr)
NM_133497.4(KCNV2):c.196C>T (p.Gln66Ter)
NM_133497.4(KCNV2):c.199T>A (p.Trp67Arg) rs543226684
NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg) rs543226684
NM_133497.4(KCNV2):c.199T>G (p.Trp67Gly) rs543226684
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs) rs1385132304
NM_133497.4(KCNV2):c.202A>C (p.Lys68Gln)
NM_133497.4(KCNV2):c.20G>A (p.Arg7Lys) rs370186140
NM_133497.4(KCNV2):c.20G>C (p.Arg7Thr) rs370186140
NM_133497.4(KCNV2):c.211C>A (p.Leu71Met)
NM_133497.4(KCNV2):c.211C>T (p.Leu71=) rs1430683520
NM_133497.4(KCNV2):c.213G>A (p.Leu71=)
NM_133497.4(KCNV2):c.214G>T (p.Ala72Ser) rs1228440224
NM_133497.4(KCNV2):c.216A>C (p.Ala72=) rs764552497
NM_133497.4(KCNV2):c.21G>C (p.Arg7Ser) rs757360187
NM_133497.4(KCNV2):c.220G>C (p.Glu74Gln)
NM_133497.4(KCNV2):c.222G>C (p.Glu74Asp) rs139063852
NM_133497.4(KCNV2):c.225C>T (p.Asp75=) rs532418456
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter) rs387907302
NM_133497.4(KCNV2):c.228G>T (p.Gln76His)
NM_133497.4(KCNV2):c.230A>C (p.Gln77Pro)
NM_133497.4(KCNV2):c.240G>C (p.Glu80Asp)
NM_133497.4(KCNV2):c.241G>A (p.Val81Ile) rs778654754
NM_133497.4(KCNV2):c.248C>T (p.Thr83Ile) rs2130860300
NM_133497.4(KCNV2):c.255G>C (p.Lys85Asn)
NM_133497.4(KCNV2):c.256C>G (p.Pro86Ala) rs764748937
NM_133497.4(KCNV2):c.257C>T (p.Pro86Leu) rs1379886188
NM_133497.4(KCNV2):c.258C>T (p.Pro86=) rs143109320
NM_133497.4(KCNV2):c.259G>A (p.Glu87Lys)
NM_133497.4(KCNV2):c.26G>A (p.Arg9Gln)
NM_133497.4(KCNV2):c.286C>T (p.Leu96=) rs2130860350
NM_133497.4(KCNV2):c.293C>T (p.Thr98Met)
NM_133497.4(KCNV2):c.296T>A (p.Leu99Gln) rs1427633996
NM_133497.4(KCNV2):c.29C>A (p.Ser10Tyr)
NM_133497.4(KCNV2):c.29C>G (p.Ser10Cys)
NM_133497.4(KCNV2):c.309G>A (p.Val103=) rs775691897
NM_133497.4(KCNV2):c.311G>A (p.Gly104Asp)
NM_133497.4(KCNV2):c.311G>C (p.Gly104Ala)
NM_133497.4(KCNV2):c.315C>G (p.Gly105=)
NM_133497.4(KCNV2):c.318C>A (p.His106Gln)
NM_133497.4(KCNV2):c.326A>G (p.Gln109Arg)
NM_133497.4(KCNV2):c.328C>G (p.Leu110Val) rs372942165
NM_133497.4(KCNV2):c.328C>T (p.Leu110=) rs372942165
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
NM_133497.4(KCNV2):c.339C>G (p.Cys113Trp)
NM_133497.4(KCNV2):c.341A>G (p.Glu114Gly)
NM_133497.4(KCNV2):c.343C>T (p.Leu115=)
NM_133497.4(KCNV2):c.345G>A (p.Leu115=) rs202166642
NM_133497.4(KCNV2):c.345G>T (p.Leu115=)
NM_133497.4(KCNV2):c.352T>G (p.Phe118Val)
NM_133497.4(KCNV2):c.357C>G (p.Pro119=) rs1819772981
NM_133497.4(KCNV2):c.359A>T (p.Lys120Met) rs1199220423
NM_133497.4(KCNV2):c.35G>C (p.Ser12Thr)
NM_133497.4(KCNV2):c.361A>G (p.Thr121Ala)
NM_133497.4(KCNV2):c.361del (p.Thr121fs) rs2130860471
NM_133497.4(KCNV2):c.362C>T (p.Thr121Met)
NM_133497.4(KCNV2):c.364C>G (p.Arg122Gly) rs761130319
NM_133497.4(KCNV2):c.367_396dup (p.Leu123_Arg132dup) rs1819773282
NM_133497.4(KCNV2):c.368T>C (p.Leu123Pro)
NM_133497.4(KCNV2):c.371G>T (p.Gly124Val)
NM_133497.4(KCNV2):c.376C>T (p.Leu126=) rs1400557971
NM_133497.4(KCNV2):c.380C>T (p.Ala127Val) rs1225416665
NM_133497.4(KCNV2):c.381del (p.Thr128fs) rs141099767
NM_133497.4(KCNV2):c.389C>G (p.Thr130Ser) rs541196988
NM_133497.4(KCNV2):c.389C>T (p.Thr130Ile) rs541196988
NM_133497.4(KCNV2):c.390C>G (p.Thr130=)
NM_133497.4(KCNV2):c.399C>T (p.Ser133=)
NM_133497.4(KCNV2):c.39C>G (p.Tyr13Ter)
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs) rs1586686845
NM_133497.4(KCNV2):c.412C>T (p.Leu138=)
NM_133497.4(KCNV2):c.414G>A (p.Leu138=)
NM_133497.4(KCNV2):c.414G>C (p.Leu138=)
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter) rs748280472
NM_133497.4(KCNV2):c.417C>T (p.Cys139=) rs748280472
NM_133497.4(KCNV2):c.420C>T (p.Asp140=) rs886131960
NM_133497.4(KCNV2):c.421G>A (p.Asp141Asn)
NM_133497.4(KCNV2):c.427G>A (p.Glu143Lys) rs104894113
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_133497.4(KCNV2):c.430G>T (p.Glu144Ter) rs777051584
NM_133497.4(KCNV2):c.437C>T (p.Thr146Ile)
NM_133497.4(KCNV2):c.439G>A (p.Asp147Asn)
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys) rs140256288
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) rs140256288
NM_133497.4(KCNV2):c.447C>T (p.Tyr149=) rs2130860614
NM_133497.4(KCNV2):c.448T>A (p.Phe150Ile) rs1819776082
NM_133497.4(KCNV2):c.448TTC[1] (p.Phe151del) rs766549271
NM_133497.4(KCNV2):c.44C>T (p.Pro15Leu) rs771599426
NM_133497.4(KCNV2):c.450C>T (p.Phe150=)
NM_133497.4(KCNV2):c.452T>C (p.Phe151Ser)
NM_133497.4(KCNV2):c.453C>T (p.Phe151=)
NM_133497.4(KCNV2):c.454G>T (p.Asp152Tyr) rs377667539
NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly) rs1586686896
NM_133497.4(KCNV2):c.458_459delinsTT (p.Arg153Leu)
NM_133497.4(KCNV2):c.487_495del (p.Asn163_Tyr165del) rs2130860666
NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser) rs397514604
NM_133497.4(KCNV2):c.491del (p.Phe164fs) rs2130860673
NM_133497.4(KCNV2):c.496C>T (p.Leu166=)
NM_133497.4(KCNV2):c.501C>T (p.Ser167=)
NM_133497.4(KCNV2):c.507G>A (p.Val169=) rs1819777840
NM_133497.4(KCNV2):c.517C>T (p.Leu173Phe) rs760750739
NM_133497.4(KCNV2):c.51C>A (p.Asn17Lys)
NM_133497.4(KCNV2):c.522C>T (p.Asp174=) rs1819778232
NM_133497.4(KCNV2):c.523G>T (p.Gly175Trp)
NM_133497.4(KCNV2):c.524G>C (p.Gly175Ala)
NM_133497.4(KCNV2):c.524G>T (p.Gly175Val)
NM_133497.4(KCNV2):c.525G>A (p.Gly175=)
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs) rs1819778559
NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg) rs751600925
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser) rs1819778622
NM_133497.4(KCNV2):c.534G>A (p.Pro178=)
NM_133497.4(KCNV2):c.542_543delinsCT (p.Phe181Ser) rs2130860769
NM_133497.4(KCNV2):c.547G>T (p.Glu183Ter) rs1272477167
NM_133497.4(KCNV2):c.550G>A (p.Glu184Lys)
NM_133497.4(KCNV2):c.553C>G (p.Leu185Val) rs780435673
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) rs977790637
NM_133497.4(KCNV2):c.563G>A (p.Trp188Ter)
NM_133497.4(KCNV2):c.564G>C (p.Trp188Cys) rs772921412
NM_133497.4(KCNV2):c.568G>C (p.Val190Leu)
NM_133497.4(KCNV2):c.56C>T (p.Thr19Met)
NM_133497.4(KCNV2):c.572G>T (p.Arg191Leu) rs1164395600
NM_133497.4(KCNV2):c.574C>T (p.Leu192Phe) rs1423174083
NM_133497.4(KCNV2):c.581A>G (p.Tyr194Cys) rs1384318414
NM_133497.4(KCNV2):c.582C>T (p.Tyr194=) rs2130860842
NM_133497.4(KCNV2):c.588A>G (p.Pro196=) rs2130860852
NM_133497.4(KCNV2):c.590G>T (p.Arg197Leu)
NM_133497.4(KCNV2):c.591C>A (p.Arg197=)
NM_133497.4(KCNV2):c.595T>C (p.Cys199Arg) rs777392338
NM_133497.4(KCNV2):c.596G>A (p.Cys199Tyr) rs770865610
NM_133497.4(KCNV2):c.600C>T (p.Arg200=)
NM_133497.4(KCNV2):c.603C>T (p.Ile201=)
NM_133497.4(KCNV2):c.605G>C (p.Cys202Ser)
NM_133497.4(KCNV2):c.609C>G (p.Phe203Leu)
NM_133497.4(KCNV2):c.609C>T (p.Phe203=)
NM_133497.4(KCNV2):c.613G>T (p.Glu205Ter) rs753157401
NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln) rs780813722
NM_133497.4(KCNV2):c.617G>C (p.Arg206Pro) rs780813722
NM_133497.4(KCNV2):c.617G>T (p.Arg206Leu) rs780813722
NM_133497.4(KCNV2):c.619C>T (p.Arg207Cys) rs1242550633
NM_133497.4(KCNV2):c.620G>T (p.Arg207Leu)
NM_133497.4(KCNV2):c.621C>T (p.Arg207=)
NM_133497.4(KCNV2):c.622G>T (p.Asp208Tyr)
NM_133497.4(KCNV2):c.623A>G (p.Asp208Gly) rs1233843071
NM_133497.4(KCNV2):c.624C>G (p.Asp208Glu) rs907617598
NM_133497.4(KCNV2):c.624C>T (p.Asp208=) rs907617598
NM_133497.4(KCNV2):c.625G>A (p.Glu209Lys) rs200148749
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)
NM_133497.4(KCNV2):c.627G>A (p.Glu209=) rs1383777570
NM_133497.4(KCNV2):c.627G>C (p.Glu209Asp) rs1383777570
NM_133497.4(KCNV2):c.632G>A (p.Ser211Asn) rs1175089913
NM_133497.4(KCNV2):c.637C>T (p.Arg213Trp) rs747313869
NM_133497.4(KCNV2):c.638G>A (p.Arg213Gln) rs776807664
NM_133497.4(KCNV2):c.638G>C (p.Arg213Pro) rs776807664
NM_133497.4(KCNV2):c.638G>T (p.Arg213Leu)
NM_133497.4(KCNV2):c.641T>C (p.Leu214Pro)
NM_133497.4(KCNV2):c.645G>A (p.Lys215=) rs201327014
NM_133497.4(KCNV2):c.645G>T (p.Lys215Asn) rs201327014
NM_133497.4(KCNV2):c.647T>A (p.Ile216Asn)
NM_133497.4(KCNV2):c.647T>G (p.Ile216Ser) rs558295858
NM_133497.4(KCNV2):c.649C>T (p.Gln217Ter) rs2130860955
NM_133497.4(KCNV2):c.652C>G (p.His218Asp) rs755998410
NM_133497.4(KCNV2):c.652C>T (p.His218Tyr) rs755998410
NM_133497.4(KCNV2):c.653_661dup (p.Leu220_Arg221insHisGluLeu)
NM_133497.4(KCNV2):c.656_657del (p.Glu219fs) rs2130860973
NM_133497.4(KCNV2):c.659T>C (p.Leu220Pro) rs1199262407
NM_133497.4(KCNV2):c.663C>T (p.Arg221=)
NM_133497.4(KCNV2):c.664G>A (p.Ala222Thr)
NM_133497.4(KCNV2):c.665CGCAGG[1] (p.222AQ[1]) rs759818370
NM_133497.4(KCNV2):c.66G>A (p.Glu22=)
NM_133497.4(KCNV2):c.671C>T (p.Ala224Val) rs776156112
NM_133497.4(KCNV2):c.672G>C (p.Ala224=)
NM_133497.4(KCNV2):c.674A>C (p.Gln225Pro)
NM_133497.4(KCNV2):c.676G>C (p.Val226Leu) rs74587818
NM_133497.4(KCNV2):c.687G>A (p.Ala229=) rs371912406
NM_133497.4(KCNV2):c.692A>C (p.Glu231Ala)
NM_133497.4(KCNV2):c.699C>T (p.Phe233=)
NM_133497.4(KCNV2):c.700C>A (p.Arg234Ser) rs769985957
NM_133497.4(KCNV2):c.700C>T (p.Arg234Cys)
NM_133497.4(KCNV2):c.700dup (p.Arg234fs)
NM_133497.4(KCNV2):c.705_706dup (p.Met236fs)
NM_133497.4(KCNV2):c.707T>C (p.Met236Thr)
NM_133497.4(KCNV2):c.707T>G (p.Met236Arg) rs1819786525
NM_133497.4(KCNV2):c.710G>C (p.Arg237Pro)
NM_133497.4(KCNV2):c.711C>A (p.Arg237=) rs2130861070
NM_133497.4(KCNV2):c.714C>T (p.Phe238=)
NM_133497.4(KCNV2):c.718G>T (p.Gly240Cys) rs760387745
NM_133497.4(KCNV2):c.720C>A (p.Gly240=) rs947756576
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter) rs1819787095
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del) rs1586687216
NM_133497.4(KCNV2):c.727C>A (p.Arg243=) rs143138491
NM_133497.4(KCNV2):c.727C>T (p.Arg243Trp)
NM_133497.4(KCNV2):c.729G>A (p.Arg243=) rs1809256690
NM_133497.4(KCNV2):c.729G>T (p.Arg243=) rs1809256690
NM_133497.4(KCNV2):c.730C>T (p.Arg244Cys)
NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter) rs2130861136
NM_133497.4(KCNV2):c.742A>C (p.Asn248His)
NM_133497.4(KCNV2):c.743A>T (p.Asn248Ile)
NM_133497.4(KCNV2):c.746T>G (p.Leu249Arg)
NM_133497.4(KCNV2):c.757C>G (p.Pro253Ala) rs1819788466
NM_133497.4(KCNV2):c.758del (p.Pro253fs) rs1586687247
NM_133497.4(KCNV2):c.75A>C (p.Gln25His)
NM_133497.4(KCNV2):c.75A>G (p.Gln25=) rs2130859991
NM_133497.4(KCNV2):c.762C>G (p.Phe254Leu) rs147022958
NM_133497.4(KCNV2):c.764C>T (p.Ser255Phe) rs899801446
NM_133497.4(KCNV2):c.765C>T (p.Ser255=)
NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp) rs104894116
NM_133497.4(KCNV2):c.774del (p.Ala259fs) rs753147277
NM_133497.4(KCNV2):c.777C>T (p.Ala259=) rs751450407
NM_133497.4(KCNV2):c.778A>G (p.Lys260Glu) rs139027297
NM_133497.4(KCNV2):c.781del (p.Ala261fs) rs2130861209
NM_133497.4(KCNV2):c.786C>T (p.Ile262=)
NM_133497.4(KCNV2):c.798C>T (p.Ser266=) rs2130861256
NM_133497.4(KCNV2):c.800G>A (p.Ser267Asn) rs2130861259
NM_133497.4(KCNV2):c.807C>A (p.Phe269Leu)
NM_133497.4(KCNV2):c.807C>T (p.Phe269=) rs373932533
NM_133497.4(KCNV2):c.816C>A (p.Val272=) rs2130861285
NM_133497.4(KCNV2):c.823G>T (p.Val275Leu) rs962948174
NM_133497.4(KCNV2):c.831G>A (p.Leu277=) rs1487458605
NM_133497.4(KCNV2):c.834G>A (p.Ala278=) rs1429376047
NM_133497.4(KCNV2):c.844G>A (p.Val282Met) rs781606821
NM_133497.4(KCNV2):c.846G>A (p.Val282=)
NM_133497.4(KCNV2):c.847G>A (p.Glu283Lys)
NM_133497.4(KCNV2):c.849G>T (p.Glu283Asp) rs17656693
NM_133497.4(KCNV2):c.84G>A (p.Arg28=) rs781326115
NM_133497.4(KCNV2):c.855G>T (p.Met285Ile) rs768649666
NM_133497.4(KCNV2):c.856C>T (p.Gln286Ter)
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter) rs569992163
NM_133497.4(KCNV2):c.866C>G (p.Ser289Trp) rs569992163
NM_133497.4(KCNV2):c.866C>T (p.Ser289Leu) rs569992163
NM_133497.4(KCNV2):c.867G>C (p.Ser289=)
NM_133497.4(KCNV2):c.867G>T (p.Ser289=) rs765405789
NM_133497.4(KCNV2):c.868G>C (p.Gly290Arg)
NM_133497.4(KCNV2):c.873G>A (p.Gln291=)
NM_133497.4(KCNV2):c.873G>C (p.Gln291His) rs139044338
NM_133497.4(KCNV2):c.875G>T (p.Gly292Val)
NM_133497.4(KCNV2):c.876C>A (p.Gly292=) rs757804743
NM_133497.4(KCNV2):c.876C>T (p.Gly292=)
NM_133497.4(KCNV2):c.877G>A (p.Glu293Lys)
NM_133497.4(KCNV2):c.881G>A (p.Gly294Asp)
NM_133497.4(KCNV2):c.884G>A (p.Gly295Asp) rs1413463889
NM_133497.4(KCNV2):c.889G>C (p.Asp297His)
NM_133497.4(KCNV2):c.889_901del (p.Asp297fs) rs1563795658
NM_133497.4(KCNV2):c.898C>A (p.Pro300Thr) rs773016278
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_133497.4(KCNV2):c.906G>A (p.Leu302=)
NM_133497.4(KCNV2):c.907G>C (p.Glu303Gln) rs1266256987
NM_133497.4(KCNV2):c.912C>T (p.His304=)
NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter) rs104894114
NM_133497.4(KCNV2):c.920T>C (p.Met307Thr)
NM_133497.4(KCNV2):c.92G>A (p.Cys31Tyr)
NM_133497.4(KCNV2):c.930G>A (p.Met310Ile) rs1004868073
NM_133497.4(KCNV2):c.931G>A (p.Gly311Ser) rs202200956
NM_133497.4(KCNV2):c.932G>A (p.Gly311Asp) rs1015880443
NM_133497.4(KCNV2):c.935T>C (p.Phe312Ser)
NM_133497.4(KCNV2):c.936C>T (p.Phe312=) rs1006319872
NM_133497.4(KCNV2):c.944_973del (p.Leu315_Thr324del) rs1819796278
NM_133497.4(KCNV2):c.946G>A (p.Glu316Lys)
NM_133497.4(KCNV2):c.948G>T (p.Glu316Asp) rs147822789
NM_133497.4(KCNV2):c.951C>G (p.Tyr317Ter) rs1432037634
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly) rs754275640
NM_133497.4(KCNV2):c.959G>A (p.Arg320His) rs1369674746
NM_133497.4(KCNV2):c.965C>T (p.Ala322Val) rs777405471
NM_133497.4(KCNV2):c.972G>T (p.Thr324=) rs1443842786
NM_133497.4(KCNV2):c.976G>A (p.Asp326Asn)
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) rs1819797791
NM_133497.4(KCNV2):c.984G>A (p.Arg328=)
NM_133497.4(KCNV2):c.989T>C (p.Phe330Ser) rs1819797955
NM_133497.4(KCNV2):c.990C>T (p.Phe330=) rs773388753
NM_133497.4(KCNV2):c.995G>A (p.Arg332His) rs765751812
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs) rs986350598
NM_133497.4(KCNV2):c.99G>A (p.Leu33=) rs575726539
NM_133497.4:c.1357_1638del rs1820025037

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