ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 4

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 626
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000256.3(MYBPC3):c.1091-24C>T rs2856650 0.22861
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_000256.3(MYBPC3):c.1223+29G>A rs11570078 0.08776
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000256.3(MYBPC3):c.*236G>A rs11570121 0.01781
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_000256.3(MYBPC3):c.*113G>T rs117960173 0.00045
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000256.3(MYBPC3):c.*127G>A rs549519453 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NC_000011.10:g.47349939G>A rs561595897 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.*275G>A rs916334281 0.00011
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly) rs370554185 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 0.00009
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys) rs377171707 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00009
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu) rs751224775 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) rs730880698 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000256.3(MYBPC3):c.773-18T>C rs755484970 0.00006
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) rs727503198 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys) rs765825263 0.00005
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) rs775237084 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met) rs374946555 0.00004
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=) rs371488508 0.00004
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) rs730880617 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.630C>T (p.His210=) rs762695516 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) rs397516064 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000256.3(MYBPC3):c.*119C>A rs764758393 0.00003
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249 0.00003
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val) rs374349666 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys) rs3729946 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335 0.00003
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys) rs374976635 0.00003
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) rs397515986 0.00003
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile) rs531189495 0.00003
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073 0.00003
NM_000256.3(MYBPC3):c.654+18G>A rs758836172 0.00003
NM_000256.3(MYBPC3):c.852-14G>T rs751278539 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn) rs753321277 0.00002
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) rs775837337 0.00002
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg) rs1185871136 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=) rs367915627 0.00002
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=) rs768049705 0.00002
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2149-80G>A rs1041197781 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) rs752007810 0.00002
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu) rs527305885 0.00002
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp) rs569824900 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg) rs767605155 0.00002
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815 0.00002
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) rs769018051 0.00002
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) rs754115924 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.596T>C (p.Leu199Pro) rs878853835 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.815G>A (p.Arg272His) rs759515993 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NC_000011.10:g.47332110del rs727503166 0.00001
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NC_000011.10:g.47335863G>T rs886048373 0.00001
NC_000011.10:g.47341135C>T rs937023392 0.00001
NM_000256.3(MYBPC3):c.*131T>C rs570058149 0.00001
NM_000256.3(MYBPC3):c.*293A>G rs886048365 0.00001
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883 0.00001
NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=) rs886048380 0.00001
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu) rs748689012 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1227-9C>A rs11570079 0.00001
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His) rs764849803 0.00001
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala) rs749310275 0.00001
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe) rs747686377 0.00001
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707 0.00001
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser) rs758901980 0.00001
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr) rs761672176 0.00001
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200 0.00001
NM_000256.3(MYBPC3):c.1580T>C (p.Leu527Pro) rs761466191 0.00001
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser) rs1165486681 0.00001
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=) rs976630639 0.00001
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) rs730880692 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met) rs774348756 0.00001
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) rs549239819 0.00001
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=) rs1206508060 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992 0.00001
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) rs1163861044 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val) rs1188736507 0.00001
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) rs727504574 0.00001
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu) rs1273374175 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=) rs531228202 0.00001
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn) rs778851720 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp) rs727503183 0.00001
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) rs549758428 0.00001
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) rs730880577 0.00001
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln) rs761696555 0.00001
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg) rs727503177 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys) rs758421775 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg) rs2095879154 0.00001
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) rs368973872 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu) rs761545914 0.00001
NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser) rs1462884291 0.00001
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser) rs727503170 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) rs1255638075 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) rs762225417 0.00001
NM_000256.3(MYBPC3):c.3815-12C>T rs764320767 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) rs397516051 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) rs756894628 0.00001
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met) rs748746951 0.00001
NM_000256.3(MYBPC3):c.851+2T>C rs1194615408 0.00001
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln) rs730880629 0.00001
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln) rs121434298 0.00001
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del
NC_000011.10:g.47332705G>C rs730880592
NC_000011.10:g.47333189C>T rs373746463
NC_000011.10:g.47333236del rs727503172
NC_000011.10:g.47335164G>T
NC_000011.10:g.47337466C>T rs730880567
NC_000011.10:g.47339379del rs397515947
NC_000011.10:g.47339702_47339705delinsCC rs397515943
NC_000011.10:g.47339718_47339719delinsC rs727503192
NC_000011.10:g.47342826T>C rs886039119
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347434del rs1555122928
NC_000011.10:g.47347499G>T rs371941585
NC_000011.10:g.47347670del rs727503212
NC_000011.10:g.47348498_47348523dup rs786204329
NC_000011.10:g.47349937del rs11570050
NG_007667.1:g.(47337390_47336011)_(47331406_?)del
NM_000256.3(MYBPC3):c.*116T>C rs886048367
NM_000256.3(MYBPC3):c.*212C>G rs2095874401
NM_000256.3(MYBPC3):c.-34T>A rs2095902050
NM_000256.3(MYBPC3):c.-5T>G rs886048383
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val) rs1356431718
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del) rs775069579
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.109G>T (p.Gly37Ter)
NM_000256.3(MYBPC3):c.1102A>T (p.Lys368Ter)
NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs)
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu) rs1292522713
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter) rs730880637
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) rs727505266
NM_000256.3(MYBPC3):c.1223+2T>C rs730880641
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000256.3(MYBPC3):c.1227-1G>C rs113276889
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1252A>C (p.Lys418Gln)
NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter)
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter)
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1352A>T (p.Glu451Val)
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His) rs730880536
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) rs749310275
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) rs1595846398
NM_000256.3(MYBPC3):c.1372C>A (p.Arg458Ser)
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu) rs1213818614
NM_000256.3(MYBPC3):c.1394dup (p.Met466fs)
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1404delG rs886037900
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla) rs2142861363
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) rs397514752
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1520G>T (p.Gly507Val)
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=) rs1235816440
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs) rs2142861049
NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer)
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=) rs766721220
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)
NM_000256.3(MYBPC3):c.159del (p.Asn53fs)
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter) rs2142860329
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs) rs730880644
NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys) rs730880693
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) rs121909375
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala) rs730880552
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1855G>T (p.Glu619Ter)
NM_000256.3(MYBPC3):c.1908dup (p.Asp637Ter)
NM_000256.3(MYBPC3):c.1927+1G>T rs2142859053
NM_000256.3(MYBPC3):c.1927+337G>T
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val) rs2095886397
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618
NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) rs786204345
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2067+2del
NM_000256.3(MYBPC3):c.2068-9T>A
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val) rs896073779
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.2148+1G>A rs1060499604
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2149-1G>T rs727504334
NM_000256.3(MYBPC3):c.2149-2A>C rs2142856729
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2149-3C>G
NM_000256.3(MYBPC3):c.2149-5C>A rs36211722
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) rs730880696
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu) rs534345197
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2240del (p.Gly747fs)
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs) rs863225111
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2306del (p.Ile769fs)
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2309-1G>A
NM_000256.3(MYBPC3):c.2309-26A>G rs886041030
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2309-3C>G
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.2362dup (p.Cys788fs)
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr) rs730880700
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser)
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2441A>G (p.Lys814Arg) rs1565625356
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2449del (p.Arg817fs)
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu) rs397515964
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn) rs774442478
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter) rs397515969
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2533C>A (p.Arg845Ser) rs727504345
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val) rs730880569
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.2595delinsATA (p.Met865fs)
NM_000256.3(MYBPC3):c.26-1G>T
NM_000256.3(MYBPC3):c.2602+1G>A
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp) rs1007623141
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) rs2095881732
NM_000256.3(MYBPC3):c.2717T>G (p.Val906Gly)
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
NM_000256.3(MYBPC3):c.2743G>T (p.Glu915Ter)
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val) rs1399854518
NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs)
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro) rs946763177
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) rs786204352
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) rs2095880876
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys) rs727503178
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) rs730880585
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter)
NM_000256.3(MYBPC3):c.3029del (p.Glu1010fs)
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.306del (p.Met103fs) rs863225109
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
NM_000256.3(MYBPC3):c.3158_3159del (p.Glu1053fs)
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs) rs760491068
NM_000256.3(MYBPC3):c.3184del (p.Val1062fs) rs1595841736
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del) rs1595841732
NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val) rs1445937499
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs)
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3277G>A (p.Gly1093Ser) rs727503173
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala) rs2095878980
NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs) rs2142850797
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) rs1060499673
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) rs397516016
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) rs886037901
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala) rs1595841329
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.3447_3453del (p.Asp1149fs)
NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159fs) rs1595841206
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) rs1555120300
NM_000256.3(MYBPC3):c.3582_3593del (p.Gly1195_Ala1198del)
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=) rs771292799
NM_000256.3(MYBPC3):c.3617G>T (p.Gly1206Val) rs1057517769
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.3624delC rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) rs886041031
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs)
NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg) rs1595840788
NM_000256.3(MYBPC3):c.3708_3709dup (p.Thr1237fs)
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) rs11570046
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3747_3748insGG (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) rs2095877700
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs) rs2142849245
NM_000256.3(MYBPC3):c.3784_3795del (p.Ala1262_Glu1265del)
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) rs2095877651
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) rs1595840648
NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)
NM_000256.3(MYBPC3):c.388del (p.Ser130fs)
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=) rs377520770
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg)
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.505+1dup
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.560del (p.Pro187fs)
NM_000256.3(MYBPC3):c.58del (p.Glu20fs)
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn) rs2095898499
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.626T>C (p.Leu209Pro) rs1595849592
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.655-25A>G
NM_000256.3(MYBPC3):c.655-2A>G rs1219818351
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met) rs886039000
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro) rs730880625
NM_000256.3(MYBPC3):c.755del (p.Phe252fs)
NM_000256.3(MYBPC3):c.768C>A (p.Val256=) rs886048382
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772+4A>T
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000256.3(MYBPC3):c.808G>A (p.Ala270Thr) rs775337081
NM_000256.3(MYBPC3):c.821+1G>T rs397516073
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.821+6T>C rs2095895947
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.86del (p.Phe29fs) rs2142869802
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.909-18C>G
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.927_928delGG rs886037902
NM_000256.3(MYBPC3):c.931T>C (p.Ser311Pro) rs397516084
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.946_962del (p.Pro316fs)
NM_000257.4(MYH7):c.5769del (p.Ser1924fs) rs1892066954
NM_000265.6(NCF1):c.*179G>A rs1057519503
NM_001035.3(RYR2):c.8783A>G (p.Gln2928Arg) rs1114167339
NM_001256715.2(DNAAF3):c.331G>A (p.Glu111Lys)
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr) rs397516451
NM_004333.6(BRAF):c.2128-4_2129del rs1131692058
NM_007078.3(LDB3):c.1438G>A (p.Gly480Ser)

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