ClinVar Miner

List of variants studied for Myopathy, proximal, and ophthalmoplegia by Invitae

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ClinVar version:
Total variants: 1098
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_017534.6(MYH2):c.904+10G>A rs719277 0.39768
NM_017534.6(MYH2):c.3263+15A>G rs2277651 0.34231
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=) rs1042236 0.17365
NM_017534.6(MYH2):c.1975-9G>A rs3744566 0.06015
NM_017534.6(MYH2):c.5674-10T>C rs16943488 0.01300
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.183G>A (p.Thr61=) rs142539913 0.00745
NM_017534.6(MYH2):c.2382C>A (p.Thr794=) rs76400103 0.00548
NM_017534.6(MYH2):c.4242C>T (p.Asn1414=) rs146615128 0.00548
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=) rs61736461 0.00375
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_017534.6(MYH2):c.687A>G (p.Leu229=) rs145014502 0.00270
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_017534.6(MYH2):c.2698-8A>C rs186620412 0.00221
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=) rs145796634 0.00104
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly) rs148693677 0.00099
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017534.6(MYH2):c.805+8T>A rs201549295 0.00088
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_017534.6(MYH2):c.3308A>T (p.Glu1103Val) rs139295564 0.00085
NM_017534.6(MYH2):c.811C>T (p.Leu271=) rs115487650 0.00069
NM_017534.6(MYH2):c.3585G>A (p.Ala1195=) rs143988052 0.00068
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_017534.6(MYH2):c.1587+5G>T rs192223842 0.00059
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_017534.6(MYH2):c.5472+3G>T rs200691436 0.00052
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017534.6(MYH2):c.87T>C (p.Asn29=) rs148217318 0.00050
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_017534.6(MYH2):c.2062+8A>G rs117562194 0.00039
NM_017534.6(MYH2):c.3872-16T>C rs199732843 0.00039
NM_017534.6(MYH2):c.882G>A (p.Ser294=) rs201035972 0.00039
NM_017534.6(MYH2):c.1250G>C (p.Gly417Ala) rs201775814 0.00037
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=) rs573063758 0.00036
NM_017534.6(MYH2):c.2304+7T>G rs370223713 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 0.00034
NM_017534.6(MYH2):c.2889T>C (p.Leu963=) rs146355976 0.00031
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile) rs774544504 0.00031
NM_017534.6(MYH2):c.1275C>T (p.Asn425=) rs151000841 0.00029
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp) rs191102801 0.00029
NM_017534.6(MYH2):c.1305C>T (p.Tyr435=) rs539415599 0.00027
NM_017534.6(MYH2):c.1082A>T (p.His361Leu) rs139478967 0.00026
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe) rs200217946 0.00026
NM_017534.6(MYH2):c.4537+7C>T rs375199452 0.00026
NM_017534.6(MYH2):c.834C>T (p.Phe278=) rs370416173 0.00025
NM_017534.6(MYH2):c.5346C>T (p.Ser1782=) rs199864744 0.00024
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_017534.6(MYH2):c.5355G>T (p.Leu1785=) rs113280351 0.00021
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe) rs751563313 0.00020
NM_017534.6(MYH2):c.3058G>C (p.Glu1020Gln) rs150248342 0.00019
NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe) rs187438258 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017534.6(MYH2):c.4972-15T>C rs566344021 0.00019
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys) rs564509544 0.00018
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter) rs758395765 0.00018
NM_017534.6(MYH2):c.3531C>T (p.Phe1177=) rs148640299 0.00018
NM_017534.6(MYH2):c.533+6T>G rs545924178 0.00018
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His) rs148326504 0.00017
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys) rs377584935 0.00017
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His) rs200732220 0.00017
NM_017534.6(MYH2):c.1812G>A (p.Leu604=) rs371489019 0.00016
NM_017534.6(MYH2):c.2286T>C (p.Tyr762=) rs139196902 0.00016
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly) rs201784718 0.00016
NM_017534.6(MYH2):c.2631G>A (p.Lys877=) rs139585266 0.00016
NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg) rs148961199 0.00016
NM_017534.6(MYH2):c.3939C>A (p.Ala1313=) rs376472420 0.00016
NM_017534.6(MYH2):c.4407G>A (p.Thr1469=) rs144654838 0.00016
NM_017534.6(MYH2):c.4557G>A (p.Thr1519=) rs755267670 0.00016
NM_017534.6(MYH2):c.1334G>A (p.Arg445His) rs201040489 0.00015
NM_017534.6(MYH2):c.1536G>A (p.Thr512=) rs146376676 0.00015
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00014
NM_017534.6(MYH2):c.3354+10T>A rs201933458 0.00014
NM_017534.6(MYH2):c.5577+7C>A rs370883162 0.00014
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_017534.6(MYH2):c.3477C>T (p.Ala1159=) rs193162376 0.00013
NM_017534.6(MYH2):c.506-20G>C rs368387130 0.00013
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_017534.6(MYH2):c.4722C>T (p.Val1574=) rs561798452 0.00011
NM_017534.6(MYH2):c.4971+8T>C rs199537007 0.00011
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.3459C>T (p.Ser1153=) rs142095822 0.00010
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His) rs144414607 0.00010
NM_017534.6(MYH2):c.5577+12A>G rs368119845 0.00010
NM_017534.6(MYH2):c.741+15C>T rs374034315 0.00010
NM_017534.6(MYH2):c.1746G>A (p.Leu582=) rs778765592 0.00009
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.609T>G (p.Gly203=) rs547575703 0.00009
NM_017534.6(MYH2):c.705C>T (p.Asn235=) rs201018335 0.00009
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_017534.6(MYH2):c.1086T>C (p.Tyr362=) rs145946759 0.00008
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser) rs148270782 0.00008
NM_017534.6(MYH2):c.205-3C>T rs371123671 0.00008
NM_017534.6(MYH2):c.3097C>A (p.Leu1033Ile) rs201592726 0.00008
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg) rs747186072 0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017534.6(MYH2):c.5743C>T (p.Arg1915Trp) rs745584391 0.00008
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr) rs113713308 0.00007
NM_017534.6(MYH2):c.4932G>A (p.Glu1644=) rs145740522 0.00007
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile) rs202050465 0.00007
NM_017534.6(MYH2):c.5708G>A (p.Arg1903His) rs770302436 0.00007
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr) rs372837852 0.00007
NM_017534.6(MYH2):c.1161G>A (p.Ala387=) rs141134519 0.00006
NM_017534.6(MYH2):c.1227C>T (p.Val409=) rs563146441 0.00006
NM_017534.6(MYH2):c.1359G>C (p.Lys453Asn) rs138998538 0.00006
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser) rs374943306 0.00006
NM_017534.6(MYH2):c.2442-20T>C rs368701655 0.00006
NM_017534.6(MYH2):c.2601C>T (p.Asp867=) rs142129307 0.00006
NM_017534.6(MYH2):c.264C>T (p.Ile88=) rs138646250 0.00006
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp) rs200134368 0.00006
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr) rs143809867 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.3719A>G (p.Asn1240Ser) rs779830887 0.00006
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
NM_017534.6(MYH2):c.4032C>T (p.His1344=) rs1042074 0.00006
NM_017534.6(MYH2):c.4128A>G (p.Gln1376=) rs369823867 0.00006
NM_017534.6(MYH2):c.41C>T (p.Ala14Val) rs770499680 0.00006
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser) rs199632177 0.00006
NM_017534.6(MYH2):c.4221G>A (p.Glu1407=) rs747573496 0.00006
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser) rs371923594 0.00006
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=) rs201177363 0.00006
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys) rs144934663 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_017534.6(MYH2):c.156C>A (p.Ile52=) rs770211650 0.00005
NM_017534.6(MYH2):c.2347C>A (p.Arg783=) rs762121316 0.00005
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.3751C>G (p.Leu1251Val) rs774428848 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_017534.6(MYH2):c.3883C>T (p.Arg1295Cys) rs370424529 0.00005
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln) rs145438977 0.00005
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=) rs377674160 0.00005
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp) rs569489518 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys) rs368695212 0.00005
NM_017534.6(MYH2):c.649-18C>G rs774417322 0.00005
NM_017534.6(MYH2):c.741+18G>A rs368457931 0.00005
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606 0.00004
NM_017534.6(MYH2):c.1228G>A (p.Gly410Ser) rs146229690 0.00004
NM_017534.6(MYH2):c.177A>G (p.Lys59=) rs779105792 0.00004
NM_017534.6(MYH2):c.1821C>T (p.Thr607=) rs367835082 0.00004
NM_017534.6(MYH2):c.1830A>C (p.Gly610=) rs1041742576 0.00004
NM_017534.6(MYH2):c.193G>C (p.Glu65Gln) rs767472238 0.00004
NM_017534.6(MYH2):c.2068A>G (p.Met690Val) rs375334939 0.00004
NM_017534.6(MYH2):c.2090A>G (p.His697Arg) rs753195074 0.00004
NM_017534.6(MYH2):c.2265C>T (p.Ile755=) rs146411264 0.00004
NM_017534.6(MYH2):c.2364C>T (p.Ala788=) rs369107023 0.00004
NM_017534.6(MYH2):c.343A>G (p.Ile115Val) rs781687668 0.00004
NM_017534.6(MYH2):c.3621C>T (p.Ala1207=) rs368762166 0.00004
NM_017534.6(MYH2):c.3642C>T (p.Asp1214=) rs776432522 0.00004
NM_017534.6(MYH2):c.3805G>C (p.Glu1269Gln) rs201489001 0.00004
NM_017534.6(MYH2):c.4094G>A (p.Arg1365Lys) rs745629813 0.00004
NM_017534.6(MYH2):c.4152C>T (p.Asp1384=) rs779665835 0.00004
NM_017534.6(MYH2):c.4269G>A (p.Thr1423=) rs762747511 0.00004
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met) rs138796340 0.00004
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp) rs374743981 0.00004
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His) rs145099248 0.00004
NM_017534.6(MYH2):c.5070G>A (p.Glu1690=) rs546668018 0.00004
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly) rs769912069 0.00004
NM_017534.6(MYH2):c.5303C>G (p.Ala1768Gly) rs151021565 0.00004
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr) rs550869991 0.00004
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys) rs774045866 0.00004
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=) rs761795343 0.00004
NM_017534.6(MYH2):c.5791C>T (p.Arg1931Trp) rs544066673 0.00004
NM_017534.6(MYH2):c.600A>G (p.Ala200=) rs199961294 0.00004
NM_017534.6(MYH2):c.905-19T>C rs760446745 0.00004
NM_017534.6(MYH2):c.1266+5G>A rs758217131 0.00003
NM_017534.6(MYH2):c.1333C>T (p.Arg445Cys) rs752702044 0.00003
NM_017534.6(MYH2):c.2181-5A>T rs199770682 0.00003
NM_017534.6(MYH2):c.2225T>C (p.Ile742Thr) rs773415186 0.00003
NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr) rs1358118988 0.00003
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln) rs578188627 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017534.6(MYH2):c.265G>A (p.Glu89Lys) rs759350345 0.00003
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys) rs781514305 0.00003
NM_017534.6(MYH2):c.2941-6T>C rs751299754 0.00003
NM_017534.6(MYH2):c.3152G>A (p.Arg1051His) rs1027280616 0.00003
NM_017534.6(MYH2):c.3440G>A (p.Arg1147Gln) rs760262646 0.00003
NM_017534.6(MYH2):c.3489T>C (p.Thr1163=) rs780067831 0.00003
NM_017534.6(MYH2):c.3542G>A (p.Arg1181His) rs773196254 0.00003
NM_017534.6(MYH2):c.4185C>T (p.Ala1395=) rs199982481 0.00003
NM_017534.6(MYH2):c.431G>A (p.Arg144Gln) rs773318939 0.00003
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met) rs760961929 0.00003
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg) rs910402127 0.00003
NM_017534.6(MYH2):c.4812G>A (p.Gln1604=) rs781155016 0.00003
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys) rs375371672 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp) rs755265718 0.00003
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met) rs775106499 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_017534.6(MYH2):c.1008+1G>A rs781504304 0.00002
NM_017534.6(MYH2):c.1083T>C (p.His361=) rs754882670 0.00002
NM_017534.6(MYH2):c.1491C>T (p.Phe497=) rs1005296954 0.00002
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.1958T>C (p.Val653Ala) rs1452856320 0.00002
NM_017534.6(MYH2):c.2163T>C (p.Tyr721=) rs771919379 0.00002
NM_017534.6(MYH2):c.2181-15T>C rs371894422 0.00002
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter) rs762121316 0.00002
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter) rs545623839 0.00002
NM_017534.6(MYH2):c.2703C>T (p.Ala901=) rs747870125 0.00002
NM_017534.6(MYH2):c.2707G>A (p.Gly903Ser) rs755189388 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.2915A>G (p.Lys972Arg) rs1386070071 0.00002
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn) rs767951536 0.00002
NM_017534.6(MYH2):c.3161T>C (p.Leu1054Pro) rs781763749 0.00002
NM_017534.6(MYH2):c.326G>A (p.Arg109His) rs1468175087 0.00002
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr) rs769463886 0.00002
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter) rs758264018 0.00002
NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu) rs150830535 0.00002
NM_017534.6(MYH2):c.3361A>C (p.Ile1121Leu) rs767581337 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr) rs765925366 0.00002
NM_017534.6(MYH2):c.363C>G (p.Leu121=) rs780366788 0.00002
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro) rs886044672 0.00002
NM_017534.6(MYH2):c.3744+11T>G rs371861996 0.00002
NM_017534.6(MYH2):c.4163G>A (p.Arg1388His) rs745754711 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.425C>G (p.Ala142Gly) rs766305131 0.00002
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter) rs929311433 0.00002
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met) rs774036368 0.00002
NM_017534.6(MYH2):c.4839T>C (p.Ser1613=) rs1042185 0.00002
NM_017534.6(MYH2):c.5082G>A (p.Leu1694=) rs1462094022 0.00002
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp) rs1050339515 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His) rs755776701 0.00002
NM_017534.6(MYH2):c.5472+5G>A rs765560187 0.00002
NM_017534.6(MYH2):c.5477G>A (p.Arg1826Gln) rs766875105 0.00002
NM_017534.6(MYH2):c.5540G>A (p.Arg1847His) rs748605415 0.00002
NM_017534.6(MYH2):c.5647T>G (p.Ser1883Ala) rs746016363 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter) rs1250462450 0.00002
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn) rs200893594 0.00002
NM_017534.6(MYH2):c.1005A>G (p.Thr335=) rs148584222 0.00001
NM_017534.6(MYH2):c.1008+8G>A rs1177477956 0.00001
NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg) rs748792149 0.00001
NM_017534.6(MYH2):c.112G>A (p.Val38Ile) rs1273237983 0.00001
NM_017534.6(MYH2):c.122C>T (p.Ala41Val) rs765877777 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.1267G>A (p.Val423Met) rs1433670000 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.130A>G (p.Lys44Glu) rs769767111 0.00001
NM_017534.6(MYH2):c.1344G>A (p.Gln448=) rs752068908 0.00001
NM_017534.6(MYH2):c.1380C>T (p.Ile460=) rs1057356939 0.00001
NM_017534.6(MYH2):c.1381G>A (p.Gly461Arg) rs1238892450 0.00001
NM_017534.6(MYH2):c.1492G>A (p.Val498Met) rs374726398 0.00001
NM_017534.6(MYH2):c.1495C>T (p.Leu499=) rs770838005 0.00001
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn) rs372386851 0.00001
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val) rs894307740 0.00001
NM_017534.6(MYH2):c.1569C>T (p.Cys523=) rs757583409 0.00001
NM_017534.6(MYH2):c.1581C>T (p.Ile527=) rs1050588952 0.00001
NM_017534.6(MYH2):c.1599C>A (p.Ile533=) rs1242525725 0.00001
NM_017534.6(MYH2):c.1605C>T (p.Ser535=) rs776466384 0.00001
NM_017534.6(MYH2):c.1711G>A (p.Val571Met) rs778226679 0.00001
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr) rs757972369 0.00001
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala) rs753668463 0.00001
NM_017534.6(MYH2):c.186G>T (p.Val62=) rs2073653873 0.00001
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser) rs778516827 0.00001
NM_017534.6(MYH2):c.1927G>A (p.Gly643Ser) rs781153789 0.00001
NM_017534.6(MYH2):c.1938G>A (p.Lys646=) rs140568348 0.00001
NM_017534.6(MYH2):c.1975-1G>C rs201082272 0.00001
NM_017534.6(MYH2):c.19T>C (p.Leu7=) rs753844617 0.00001
NM_017534.6(MYH2):c.2031G>A (p.Arg677=) rs764492569 0.00001
NM_017534.6(MYH2):c.2057C>A (p.Thr686Asn) rs767880435 0.00001
NM_017534.6(MYH2):c.2063-2A>T rs1349048266 0.00001
NM_017534.6(MYH2):c.2071G>A (p.Glu691Lys) rs972757672 0.00001
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys) rs1426839625 0.00001
NM_017534.6(MYH2):c.2092C>G (p.Gln698Glu) rs142443410 0.00001
NM_017534.6(MYH2):c.2124C>T (p.Ile708=) rs764971385 0.00001
NM_017534.6(MYH2):c.212C>T (p.Thr71Ile) rs145472283 0.00001
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter) rs1027921042 0.00001
NM_017534.6(MYH2):c.2181-14A>T rs763527495 0.00001
NM_017534.6(MYH2):c.2273A>C (p.Asp758Ala) rs758731503 0.00001
NM_017534.6(MYH2):c.2277C>T (p.His759=) rs755083709 0.00001
NM_017534.6(MYH2):c.2280C>A (p.Thr760=) rs891954130 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met) rs771139007 0.00001
NM_017534.6(MYH2):c.239T>C (p.Met80Thr) rs764144162 0.00001
NM_017534.6(MYH2):c.2441+13T>C rs181340024 0.00001
NM_017534.6(MYH2):c.2493G>A (p.Lys831=) rs778712421 0.00001
NM_017534.6(MYH2):c.2496C>T (p.His832=) rs757177803 0.00001
NM_017534.6(MYH2):c.2517C>T (p.Phe839=) rs1489105001 0.00001
NM_017534.6(MYH2):c.2602G>A (p.Glu868Lys) rs267604724 0.00001
NM_017534.6(MYH2):c.2617G>A (p.Glu873Lys) rs770099846 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.2671A>G (p.Asn891Asp) rs763476894 0.00001
NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly) rs1335748239 0.00001
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn) rs201945489 0.00001
NM_017534.6(MYH2):c.2940+7A>G rs960028879 0.00001
NM_017534.6(MYH2):c.2940G>C (p.Lys980Asn) rs2073403461 0.00001
NM_017534.6(MYH2):c.2963T>A (p.Met988Lys) rs749824406 0.00001
NM_017534.6(MYH2):c.2987C>T (p.Ala996Val) rs201793838 0.00001
NM_017534.6(MYH2):c.3027C>G (p.His1009Gln) rs761382091 0.00001
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val) rs771807032 0.00001
NM_017534.6(MYH2):c.3124G>A (p.Gly1042Arg) rs2073398000 0.00001
NM_017534.6(MYH2):c.3214A>T (p.Ile1072Leu) rs2073396485 0.00001
NM_017534.6(MYH2):c.3263+10A>T rs771160529 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.3263+19C>T rs570103943 0.00001
NM_017534.6(MYH2):c.3354+6T>C rs759993294 0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys) rs756255059 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3424C>T (p.Arg1142Cys) rs752906702 0.00001
NM_017534.6(MYH2):c.3430G>C (p.Asp1144His) rs2073390411 0.00001
NM_017534.6(MYH2):c.348C>T (p.Tyr116=) rs570034593 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys) rs201768483 0.00001
NM_017534.6(MYH2):c.3564C>A (p.Thr1188=) rs776880055 0.00001
NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr) rs938797010 0.00001
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys) rs780122233 0.00001
NM_017534.6(MYH2):c.3584C>T (p.Ala1195Val) rs373108053 0.00001
NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr) rs764501722 0.00001
NM_017534.6(MYH2):c.3611A>G (p.Asp1204Gly) rs2073386786 0.00001
NM_017534.6(MYH2):c.3622G>A (p.Glu1208Lys) rs546948489 0.00001
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln) rs139755852 0.00001
NM_017534.6(MYH2):c.3745-3T>C rs1305490194 0.00001
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln) rs141448415 0.00001
NM_017534.6(MYH2):c.3785T>G (p.Leu1262Arg) rs1178928941 0.00001
NM_017534.6(MYH2):c.3941T>C (p.Phe1314Ser) rs766227489 0.00001
NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys) rs554431336 0.00001
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro) rs1380534578 0.00001
NM_017534.6(MYH2):c.4023T>C (p.Ser1341=) rs1232533849 0.00001
NM_017534.6(MYH2):c.4084G>A (p.Glu1362Lys) rs772043473 0.00001
NM_017534.6(MYH2):c.4098A>G (p.Ala1366=) rs1199962484 0.00001
NM_017534.6(MYH2):c.4103C>T (p.Ser1368Phe) rs754037459 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4143C>T (p.Tyr1381=) rs1042076 0.00001
NM_017534.6(MYH2):c.4144G>A (p.Glu1382Lys) rs2073357858 0.00001
NM_017534.6(MYH2):c.4154C>T (p.Ala1385Val) rs1406857706 0.00001
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys) rs140775405 0.00001
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val) rs770023922 0.00001
NM_017534.6(MYH2):c.4243G>A (p.Ala1415Thr) rs755848527 0.00001
NM_017534.6(MYH2):c.4252G>T (p.Ala1418Ser) rs752335450 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.4291G>A (p.Val1431Ile) rs776820408 0.00001
NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys) rs747081221 0.00001
NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr) rs142908651 0.00001
NM_017534.6(MYH2):c.4338C>T (p.Ala1446=) rs1329410668 0.00001
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn) rs761573741 0.00001
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu) rs776886264 0.00001
NM_017534.6(MYH2):c.4371+11C>A rs746440872 0.00001
NM_017534.6(MYH2):c.4372-15G>A rs190385121 0.00001
NM_017534.6(MYH2):c.4392G>A (p.Gln1464=) rs1245033619 0.00001
NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp) rs938120515 0.00001
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys) rs990939157 0.00001
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln) rs1049022189 0.00001
NM_017534.6(MYH2):c.4533A>G (p.Leu1511=) rs1467089006 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.4554C>T (p.Leu1518=) rs375114012 0.00001
NM_017534.6(MYH2):c.456G>A (p.Pro152=) rs772443784 0.00001
NM_017534.6(MYH2):c.4596G>A (p.Leu1532=) rs1449785747 0.00001
NM_017534.6(MYH2):c.4650A>G (p.Leu1550=) rs1386357039 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.474C>G (p.Ile158Met) rs780719632 0.00001
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met) rs768621451 0.00001
NM_017534.6(MYH2):c.483C>T (p.Asn161=) rs1597458366 0.00001
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His) rs772914345 0.00001
NM_017534.6(MYH2):c.4947C>T (p.Tyr1649=) rs3181659 0.00001
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala) rs1126556 0.00001
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe) rs369083161 0.00001
NM_017534.6(MYH2):c.4971+15G>C rs779161804 0.00001
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg) rs2073325642 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln) rs778801023 0.00001
NM_017534.6(MYH2):c.5121C>T (p.Ile1707=) rs780525531 0.00001
NM_017534.6(MYH2):c.5136C>G (p.Leu1712=) rs191349011 0.00001
NM_017534.6(MYH2):c.5210A>C (p.Glu1737Ala) rs760648896 0.00001
NM_017534.6(MYH2):c.5261C>T (p.Ala1754Val) rs747877150 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.5304C>T (p.Ala1768=) rs562803081 0.00001
NM_017534.6(MYH2):c.5323C>G (p.Leu1775Val) rs753602134 0.00001
NM_017534.6(MYH2):c.533+19T>A rs752762468 0.00001
NM_017534.6(MYH2):c.533+1G>A rs754104695 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017534.6(MYH2):c.5345G>A (p.Ser1782Asn) rs1178820376 0.00001
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr) rs759668950 0.00001
NM_017534.6(MYH2):c.5360G>A (p.Arg1787Gln) rs770182875 0.00001
NM_017534.6(MYH2):c.5362A>G (p.Met1788Val) rs572874607 0.00001
NM_017534.6(MYH2):c.5386G>A (p.Val1796Met) rs778350338 0.00001
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys) rs746710734 0.00001
NM_017534.6(MYH2):c.5415G>A (p.Glu1805=) rs755909213 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017534.6(MYH2):c.5473-6T>C rs781072001 0.00001
NM_017534.6(MYH2):c.5545C>T (p.His1849Tyr) rs1555569647 0.00001
NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly) rs200726747 0.00001
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe) rs1488236141 0.00001
NM_017534.6(MYH2):c.5595G>A (p.Lys1865=) rs1173455486 0.00001
NM_017534.6(MYH2):c.5598T>C (p.Asn1866=) rs764826645 0.00001
NM_017534.6(MYH2):c.5607G>C (p.Arg1869Ser) rs370387304 0.00001
NM_017534.6(MYH2):c.5667G>A (p.Glu1889=) rs1335303103 0.00001
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys) rs777766586 0.00001
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys) rs770369215 0.00001
NM_017534.6(MYH2):c.572G>A (p.Arg191His) rs778659452 0.00001
NM_017534.6(MYH2):c.5736C>T (p.Ala1912=) rs755267432 0.00001
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys) rs1350545511 0.00001
NM_017534.6(MYH2):c.5748T>C (p.Ala1916=) rs1028373681 0.00001
NM_017534.6(MYH2):c.5765A>G (p.Gln1922Arg) rs1350620712 0.00001
NM_017534.6(MYH2):c.5772C>T (p.Asn1924=) rs757669070 0.00001
NM_017534.6(MYH2):c.5777T>G (p.Leu1926Arg) rs756130400 0.00001
NM_017534.6(MYH2):c.5786A>G (p.Lys1929Arg) rs1197611302 0.00001
NM_017534.6(MYH2):c.5792G>A (p.Arg1931Gln) rs763107075 0.00001
NM_017534.6(MYH2):c.620A>T (p.Lys207Met) rs373306322 0.00001
NM_017534.6(MYH2):c.648+10A>C rs754960434 0.00001
NM_017534.6(MYH2):c.648+20T>A rs763440976 0.00001
NM_017534.6(MYH2):c.649-20G>C rs372967647 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017534.6(MYH2):c.737G>A (p.Arg246His) rs773713563 0.00001
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln) rs2073575845 0.00001
NM_017534.6(MYH2):c.881C>T (p.Ser294Leu) rs2073575109 0.00001
NM_017534.6(MYH2):c.978C>T (p.Ile326=) rs1001051198 0.00001
NM_017534.6(MYH2):c.986A>G (p.Gln329Arg) rs1023760701 0.00001
NC_000017.10:g.(?_10424587)_(10428392_?)del
NC_000017.10:g.(?_10424597)_(10431211_?)del
NC_000017.10:g.(?_10424597)_(10433077_?)del
NC_000017.10:g.(?_10424597)_(10433411_?)del
NC_000017.10:g.(?_10424597)_(10451237_?)del
NC_000017.10:g.(?_10431997)_(10433401_?)dup
NC_000017.10:g.(?_10432333)_(10434433_?)del
NC_000017.10:g.(?_10432459)_(10433077_?)dup
NC_000017.10:g.(?_10432861)_(10433411_?)del
NC_000017.10:g.(?_10436582)_(10600824_?)dup
NC_000017.11:g.(?_10509485)_(10537835_?)del
NC_000017.11:g.(?_10521270)_(10537845_?)del
NC_000017.11:g.(?_10529152)_(10530084_?)dup
NC_000017.11:g.(?_9794928)_(10547930_?)del
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTCTCCTGTAA
NM_017534.6(MYH2):c.1008+4A>C
NM_017534.6(MYH2):c.1008+9A>G
NM_017534.6(MYH2):c.1024T>G (p.Leu342Val) rs753710050
NM_017534.6(MYH2):c.1068G>A (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.1078A>T (p.Met360Leu) rs201434968
NM_017534.6(MYH2):c.1081C>A (p.His361Asn) rs752699239
NM_017534.6(MYH2):c.1095A>G (p.Leu365=)
NM_017534.6(MYH2):c.1114C>T (p.Arg372Cys)
NM_017534.6(MYH2):c.1143A>C (p.Thr381=) rs2073530757
NM_017534.6(MYH2):c.1147+7A>G
NM_017534.6(MYH2):c.1148-16T>G
NM_017534.6(MYH2):c.1148-18A>G
NM_017534.6(MYH2):c.1195C>T (p.Leu399Phe)
NM_017534.6(MYH2):c.1236G>A (p.Glu412=) rs772987945
NM_017534.6(MYH2):c.1241T>C (p.Val414Ala) rs2073524537
NM_017534.6(MYH2):c.1263A>G (p.Glu421=) rs1170405370
NM_017534.6(MYH2):c.1266+11A>T
NM_017534.6(MYH2):c.1266+5G>C rs758217131
NM_017534.6(MYH2):c.1266+7G>A
NM_017534.6(MYH2):c.1266+7G>C
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys) rs151000841
NM_017534.6(MYH2):c.1297G>C (p.Ala433Pro)
NM_017534.6(MYH2):c.1299C>T (p.Ala433=)
NM_017534.6(MYH2):c.1311G>C (p.Lys437Asn) rs2142313163
NM_017534.6(MYH2):c.1316_1321del (p.Phe439_Leu440del) rs2073521807
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu) rs201040489
NM_017534.6(MYH2):c.1338C>A (p.Ile446=) rs755412365
NM_017534.6(MYH2):c.1353C>T (p.Asp451=) rs2142313100
NM_017534.6(MYH2):c.1358A>G (p.Lys453Arg) rs1555571482
NM_017534.6(MYH2):c.1360C>A (p.Gln454Lys)
NM_017534.6(MYH2):c.1360C>G (p.Gln454Glu)
NM_017534.6(MYH2):c.137C>A (p.Ser46Tyr)
NM_017534.6(MYH2):c.1385T>C (p.Val462Ala) rs2142313049
NM_017534.6(MYH2):c.138C>A (p.Ser46=)
NM_017534.6(MYH2):c.1391A>G (p.Asp464Gly)
NM_017534.6(MYH2):c.139T>C (p.Phe47Leu)
NM_017534.6(MYH2):c.1401T>C (p.Gly467=) rs1597455437
NM_017534.6(MYH2):c.1416+3G>C rs1242041194
NM_017534.6(MYH2):c.1417-10A>G
NM_017534.6(MYH2):c.1417-16A>G
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC rs2073501817
NM_017534.6(MYH2):c.1434G>A (p.Gln478=)
NM_017534.6(MYH2):c.1441A>G (p.Ile481Val) rs2142311275
NM_017534.6(MYH2):c.1444A>T (p.Asn482Tyr) rs886052570
NM_017534.6(MYH2):c.1455T>C (p.Asn485=)
NM_017534.6(MYH2):c.1467A>G (p.Gln489=) rs1433555287
NM_017534.6(MYH2):c.1477A>C (p.Asn493His)
NM_017534.6(MYH2):c.1482C>T (p.His494=)
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala) rs1567733956
NM_017534.6(MYH2):c.1497G>A (p.Leu499=)
NM_017534.6(MYH2):c.1504GAG[1] (p.Glu503del)
NM_017534.6(MYH2):c.1507G>C (p.Glu503Gln) rs865974946
NM_017534.6(MYH2):c.1516A>G (p.Lys506Glu)
NM_017534.6(MYH2):c.1521A>G (p.Glu507=)
NM_017534.6(MYH2):c.1526T>A (p.Ile509Asn)
NM_017534.6(MYH2):c.1528G>C (p.Glu510Gln) rs772963819
NM_017534.6(MYH2):c.1538T>G (p.Phe513Cys)
NM_017534.6(MYH2):c.1542C>T (p.Ile514=)
NM_017534.6(MYH2):c.1548C>T (p.Phe516=)
NM_017534.6(MYH2):c.1549G>A (p.Gly517Arg)
NM_017534.6(MYH2):c.1562C>T (p.Ala521Val)
NM_017534.6(MYH2):c.1573G>A (p.Glu525Lys) rs2142311074
NM_017534.6(MYH2):c.1587+12A>G
NM_017534.6(MYH2):c.1588-3T>C
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)
NM_017534.6(MYH2):c.15A>C (p.Ser5=)
NM_017534.6(MYH2):c.1615GAG[3] (p.Glu540_Cys541insGlu)
NM_017534.6(MYH2):c.1622G>A (p.Cys541Tyr)
NM_017534.6(MYH2):c.1624A>G (p.Met542Val)
NM_017534.6(MYH2):c.1640C>T (p.Thr547Ile)
NM_017534.6(MYH2):c.1641A>G (p.Thr547=)
NM_017534.6(MYH2):c.1646C>A (p.Thr549Asn) rs1160867842
NM_017534.6(MYH2):c.1646CCT[3] (p.Ser550dup) rs2073495820
NM_017534.6(MYH2):c.1647C>G (p.Thr549=) rs2142310791
NM_017534.6(MYH2):c.1656G>A (p.Lys552=) rs2142310777
NM_017534.6(MYH2):c.1659C>T (p.Asn553=)
NM_017534.6(MYH2):c.1673A>T (p.Gln558Leu) rs2073495432
NM_017534.6(MYH2):c.1680G>C (p.Leu560=) rs1254393512
NM_017534.6(MYH2):c.1691C>A (p.Ala564Asp)
NM_017534.6(MYH2):c.1695C>A (p.Asn565Lys) rs771444036
NM_017534.6(MYH2):c.1700A>C (p.Gln567Pro)
NM_017534.6(MYH2):c.1705C>T (p.Pro569Ser) rs1567733741
NM_017534.6(MYH2):c.1719del (p.Gly574fs) rs2073494828
NM_017534.6(MYH2):c.1737C>G (p.His579Gln) rs2073494382
NM_017534.6(MYH2):c.1750C>A (p.His584Asn)
NM_017534.6(MYH2):c.1758T>A (p.Ala586=) rs2073493923
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys) rs763994556
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
NM_017534.6(MYH2):c.1806C>T (p.Asp602=) rs147705043
NM_017534.6(MYH2):c.1822G>A (p.Val608Met)
NM_017534.6(MYH2):c.1825G>A (p.Val609Ile)
NM_017534.6(MYH2):c.1830A>T (p.Gly610=)
NM_017534.6(MYH2):c.1847C>G (p.Ala616Gly)
NM_017534.6(MYH2):c.184G>C (p.Val62Leu)
NM_017534.6(MYH2):c.1897+15T>C
NM_017534.6(MYH2):c.1897+1G>T
NM_017534.6(MYH2):c.1897+7C>T
NM_017534.6(MYH2):c.1898-12C>T
NM_017534.6(MYH2):c.1898-6C>T
NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala) rs770538729
NM_017534.6(MYH2):c.1901_1902inv (p.Gly634Val)
NM_017534.6(MYH2):c.1923A>G (p.Lys641=) rs1333835750
NM_017534.6(MYH2):c.1930AAG[2] (p.Lys646del) rs2142309594
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
NM_017534.6(MYH2):c.1975-14dup
NM_017534.6(MYH2):c.1975-9G>C rs3744566
NM_017534.6(MYH2):c.1975-9_1975-8inv
NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser) rs750604697
NM_017534.6(MYH2):c.2013C>A (p.Thr671=)
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr) rs1555571125
NM_017534.6(MYH2):c.204+20C>T
NM_017534.6(MYH2):c.204+4A>G
NM_017534.6(MYH2):c.2059C>T (p.Pro687Ser) rs2073469870
NM_017534.6(MYH2):c.2061T>C (p.Pro687=) rs2073469824
NM_017534.6(MYH2):c.2062+17T>C
NM_017534.6(MYH2):c.2063-12A>G
NM_017534.6(MYH2):c.2063-9C>G
NM_017534.6(MYH2):c.2066C>T (p.Ala689Val)
NM_017534.6(MYH2):c.2074C>T (p.His692Tyr)
NM_017534.6(MYH2):c.2076T>C (p.His692=)
NM_017534.6(MYH2):c.2102G>T (p.Cys701Phe) rs1259249860
NM_017534.6(MYH2):c.2125C>G (p.Arg709Gly)
NM_017534.6(MYH2):c.2126G>A (p.Arg709His) rs369618095
NM_017534.6(MYH2):c.2153G>T (p.Arg718Ile) rs2073467818
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017534.6(MYH2):c.2180+16T>C
NM_017534.6(MYH2):c.2180+7T>G
NM_017534.6(MYH2):c.2181-12G>A
NM_017534.6(MYH2):c.2181-7T>A rs2073450740
NM_017534.6(MYH2):c.2197G>A (p.Ala733Thr)
NM_017534.6(MYH2):c.2208C>T (p.Ile736=)
NM_017534.6(MYH2):c.2210C>A (p.Pro737His)
NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)
NM_017534.6(MYH2):c.2242T>G (p.Ser748Ala)
NM_017534.6(MYH2):c.2244T>C (p.Ser748=)
NM_017534.6(MYH2):c.2250G>A (p.Lys750=)
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2305-18A>C
NM_017534.6(MYH2):c.2305-19C>A
NM_017534.6(MYH2):c.2305-19C>T rs768809024
NM_017534.6(MYH2):c.2305-1G>A rs2142305562
NM_017534.6(MYH2):c.2305-3C>T
NM_017534.6(MYH2):c.2334C>G (p.Leu778=)
NM_017534.6(MYH2):c.2343G>C (p.Glu781Asp)
NM_017534.6(MYH2):c.2346G>A (p.Met782Ile) rs2142305497
NM_017534.6(MYH2):c.2352T>A (p.Asp784Glu)
NM_017534.6(MYH2):c.2355C>A (p.Asp785Glu) rs1392938142
NM_017534.6(MYH2):c.2365del (p.Gln789fs) rs2142305450
NM_017534.6(MYH2):c.2383C>A (p.Gln795Lys)
NM_017534.6(MYH2):c.2391G>A (p.Arg797=)
NM_017534.6(MYH2):c.2393G>A (p.Cys798Tyr)
NM_017534.6(MYH2):c.2396G>A (p.Arg799Lys)
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr) rs754150715
NM_017534.6(MYH2):c.2398G>C (p.Gly800Arg)
NM_017534.6(MYH2):c.2399G>C (p.Gly800Ala) rs1270329583
NM_017534.6(MYH2):c.2400G>A (p.Gly800=)
NM_017534.6(MYH2):c.2418G>A (p.Glu806=)
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
NM_017534.6(MYH2):c.2422C>G (p.Gln808Glu)
NM_017534.6(MYH2):c.2435A>G (p.Glu812Gly) rs1597452607
NM_017534.6(MYH2):c.2441+10del rs765025828
NM_017534.6(MYH2):c.2441+16T>A
NM_017534.6(MYH2):c.2441+4T>A
NM_017534.6(MYH2):c.2441+7A>G rs1597452591
NM_017534.6(MYH2):c.2442-12A>G
NM_017534.6(MYH2):c.2459_2467dup (p.Ile820_Tyr822dup) rs2073428547
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter) rs2142303605
NM_017534.6(MYH2):c.2467A>G (p.Asn823Asp) rs2073428486
NM_017534.6(MYH2):c.2471T>C (p.Ile824Thr)
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.2501C>T (p.Pro834Leu) rs915946647
NM_017534.6(MYH2):c.2502C>G (p.Pro834=)
NM_017534.6(MYH2):c.2514C>A (p.Leu838=) rs1597452081
NM_017534.6(MYH2):c.2514C>T (p.Leu838=) rs1597452081
NM_017534.6(MYH2):c.2518T>C (p.Phe840Leu) rs1242325182
NM_017534.6(MYH2):c.2529G>C (p.Lys843Asn) rs2142303448
NM_017534.6(MYH2):c.2530C>A (p.Pro844Thr) rs1328752239
NM_017534.6(MYH2):c.2532T>G (p.Pro844=)
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
NM_017534.6(MYH2):c.254A>G (p.Tyr85Cys)
NM_017534.6(MYH2):c.2560G>C (p.Glu854Gln)
NM_017534.6(MYH2):c.2564T>A (p.Met855Lys)
NM_017534.6(MYH2):c.256G>A (p.Asp86Asn) rs1567738501
NM_017534.6(MYH2):c.2571C>G (p.Thr857=)
NM_017534.6(MYH2):c.2577G>A (p.Lys859=)
NM_017534.6(MYH2):c.2598A>G (p.Lys866=)
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017534.6(MYH2):c.2620G>T (p.Ala874Ser)
NM_017534.6(MYH2):c.2634A>C (p.Glu878Asp) rs757290160
NM_017534.6(MYH2):c.2635C>T (p.Leu879=) rs2142303234
NM_017534.6(MYH2):c.2642A>G (p.Glu881Gly)
NM_017534.6(MYH2):c.2655G>C (p.Thr885=)
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
NM_017534.6(MYH2):c.2669A>T (p.Lys890Ile)
NM_017534.6(MYH2):c.2672dup (p.Asn891fs) rs763860580
NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)
NM_017534.6(MYH2):c.2697+7T>C rs2073424364
NM_017534.6(MYH2):c.2698-20G>C
NM_017534.6(MYH2):c.2698-3A>G
NM_017534.6(MYH2):c.2698G>A (p.Glu900Lys)
NM_017534.6(MYH2):c.2705A>G (p.Glu902Gly) rs2142301095
NM_017534.6(MYH2):c.2720C>G (p.Ala907Gly)
NM_017534.6(MYH2):c.2729G>T (p.Arg910Met) rs2073406829
NM_017534.6(MYH2):c.2750C>T (p.Thr917Ile)
NM_017534.6(MYH2):c.2761C>T (p.Leu921=) rs2142301002
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)
NM_017534.6(MYH2):c.276C>T (p.Ala92=) rs2142325071
NM_017534.6(MYH2):c.2775C>G (p.Ile925Met)
NM_017534.6(MYH2):c.277A>G (p.Met93Val)
NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser) rs1555570593
NM_017534.6(MYH2):c.2831C>A (p.Ala944Asp) rs2142300910
NM_017534.6(MYH2):c.2833A>C (p.Lys945Gln)
NM_017534.6(MYH2):c.2840G>A (p.Arg947Lys) rs762535527
NM_017534.6(MYH2):c.2851G>A (p.Asp951Asn)
NM_017534.6(MYH2):c.2909T>C (p.Val970Ala)
NM_017534.6(MYH2):c.2923C>T (p.His975Tyr) rs754311300
NM_017534.6(MYH2):c.2940+12A>G
NM_017534.6(MYH2):c.2940+3ATCA[4] rs775655878
NM_017534.6(MYH2):c.2941-4G>C
NM_017534.6(MYH2):c.2941-8C>A
NM_017534.6(MYH2):c.2941-8C>T
NM_017534.6(MYH2):c.2948A>G (p.Asn983Ser) rs2073401948
NM_017534.6(MYH2):c.2956dup (p.Glu986fs)
NM_017534.6(MYH2):c.2969G>T (p.Gly990Val) rs1597451166
NM_017534.6(MYH2):c.2997C>G (p.Thr999=)
NM_017534.6(MYH2):c.2999A>C (p.Lys1000Thr) rs912210806
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg) rs1324293373
NM_017534.6(MYH2):c.3014del (p.Leu1005fs) rs1567730339
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter) rs1226690028
NM_017534.6(MYH2):c.3026A>G (p.His1009Arg)
NM_017534.6(MYH2):c.3041A>G (p.Asp1014Gly)
NM_017534.6(MYH2):c.3074C>A (p.Thr1025Asn)
NM_017534.6(MYH2):c.3099T>C (p.Leu1033=)
NM_017534.6(MYH2):c.3103CAA[1] (p.Gln1036del)
NM_017534.6(MYH2):c.3117+13T>C rs2142300140
NM_017534.6(MYH2):c.3117+16T>A rs748615133
NM_017534.6(MYH2):c.3117T>C (p.Asp1039=) rs1158331976
NM_017534.6(MYH2):c.3126del (p.Ser1043fs)
NM_017534.6(MYH2):c.3136C>G (p.Gln1046Glu)
NM_017534.6(MYH2):c.3140A>G (p.Glu1047Gly) rs2073397644
NM_017534.6(MYH2):c.3154A>G (p.Met1052Val)
NM_017534.6(MYH2):c.3155T>C (p.Met1052Thr)
NM_017534.6(MYH2):c.3156G>A (p.Met1052Ile)
NM_017534.6(MYH2):c.3163G>A (p.Glu1055Lys)
NM_017534.6(MYH2):c.3174G>C (p.Lys1058Asn)
NM_017534.6(MYH2):c.3187G>T (p.Gly1063Cys)
NM_017534.6(MYH2):c.3188G>T (p.Gly1063Val)
NM_017534.6(MYH2):c.3192C>T (p.Asp1064=)
NM_017534.6(MYH2):c.3199T>C (p.Leu1067=)
NM_017534.6(MYH2):c.3203C>T (p.Ala1068Val) rs2073396657
NM_017534.6(MYH2):c.3205del (p.Gln1069fs) rs2142299866
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe) rs2142299853
NM_017534.6(MYH2):c.3218T>C (p.Met1073Thr) rs1335497096
NM_017534.6(MYH2):c.3223A>C (p.Ile1075Leu)
NM_017534.6(MYH2):c.322G>A (p.Glu108Lys) rs1597459444
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys) rs2142299795
NM_017534.6(MYH2):c.3263+12_3263+15del rs573872374
NM_017534.6(MYH2):c.3264-10T>A
NM_017534.6(MYH2):c.3269A>G (p.Glu1090Gly)
NM_017534.6(MYH2):c.3283A>C (p.Asn1095His)
NM_017534.6(MYH2):c.3289C>A (p.Gln1097Lys) rs2073393915
NM_017534.6(MYH2):c.3323T>C (p.Ile1108Thr)
NM_017534.6(MYH2):c.3331C>A (p.Gln1111Lys)
NM_017534.6(MYH2):c.333A>T (p.Ala111=) rs202132767
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro) rs575266045
NM_017534.6(MYH2):c.3354+11G>A
NM_017534.6(MYH2):c.3354+18del
NM_017534.6(MYH2):c.3354+5G>A
NM_017534.6(MYH2):c.3354+9_3354+10insATTGCAAGTAAGAC rs1597450796
NM_017534.6(MYH2):c.3355-12C>T
NM_017534.6(MYH2):c.3355-8A>G rs1555570464
NM_017534.6(MYH2):c.3359G>A (p.Arg1120His)
NM_017534.6(MYH2):c.3364G>A (p.Glu1122Lys)
NM_017534.6(MYH2):c.3394C>T (p.Arg1132Trp)
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.3435C>G (p.Leu1145=)
NM_017534.6(MYH2):c.3448G>A (p.Glu1150Lys)
NM_017534.6(MYH2):c.3448GAG[1] (p.Glu1151del)
NM_017534.6(MYH2):c.3456C>T (p.Ile1152=)
NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)
NM_017534.6(MYH2):c.3471A>G (p.Glu1157=)
NM_017534.6(MYH2):c.3478G>A (p.Gly1160Ser)
NM_017534.6(MYH2):c.349-10C>T rs2142321844
NM_017534.6(MYH2):c.349-14T>C
NM_017534.6(MYH2):c.349-3T>C
NM_017534.6(MYH2):c.349-5C>T rs777007197
NM_017534.6(MYH2):c.3492A>C (p.Ser1164=)
NM_017534.6(MYH2):c.3498G>T (p.Gln1166His) rs2073388994
NM_017534.6(MYH2):c.3499A>T (p.Ile1167Phe)
NM_017534.6(MYH2):c.3500T>C (p.Ile1167Thr)
NM_017534.6(MYH2):c.3510C>T (p.Asn1170=) rs1226573854
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.3536A>G (p.Lys1179Arg)
NM_017534.6(MYH2):c.3552G>C (p.Leu1184=) rs1597450591
NM_017534.6(MYH2):c.3555G>A (p.Glu1185=)
NM_017534.6(MYH2):c.3563C>A (p.Thr1188Asn) rs2073387879
NM_017534.6(MYH2):c.357A>T (p.Ser119=) rs1438390266
NM_017534.6(MYH2):c.3584C>A (p.Ala1195Glu) rs373108053
NM_017534.6(MYH2):c.3587C>G (p.Ala1196Gly) rs2142298788
NM_017534.6(MYH2):c.3594G>C (p.Leu1198=)
NM_017534.6(MYH2):c.3606T>C (p.His1202=)
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg) rs1456213666
NM_017534.6(MYH2):c.3640G>A (p.Asp1214Asn) rs1597450495
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)
NM_017534.6(MYH2):c.3695T>C (p.Met1232Thr)
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)
NM_017534.6(MYH2):c.3702T>A (p.Ile1234=)
NM_017534.6(MYH2):c.3708C>T (p.Asp1236=) rs756540877
NM_017534.6(MYH2):c.3720T>A (p.Asn1240Lys)
NM_017534.6(MYH2):c.3721G>A (p.Val1241Ile) rs2073384756
NM_017534.6(MYH2):c.3726A>G (p.Glu1242=)
NM_017534.6(MYH2):c.3731T>A (p.Val1244Asp)
NM_017534.6(MYH2):c.3740C>G (p.Ala1247Gly) rs2073384604
NM_017534.6(MYH2):c.3745-18T>C
NM_017534.6(MYH2):c.3748A>G (p.Asn1250Asp) rs1366353041
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter) rs2142297044
NM_017534.6(MYH2):c.3768G>T (p.Arg1256=)
NM_017534.6(MYH2):c.3774A>G (p.Leu1258=) rs1597449940
NM_017534.6(MYH2):c.3775G>C (p.Glu1259Gln)
NM_017534.6(MYH2):c.3801A>G (p.Ser1267=)
NM_017534.6(MYH2):c.3816G>A (p.Gln1272=)
NM_017534.6(MYH2):c.382C>A (p.Pro128Thr) rs2142321785
NM_017534.6(MYH2):c.3832G>A (p.Asp1278Asn) rs905151466
NM_017534.6(MYH2):c.3835C>T (p.Leu1279=)
NM_017534.6(MYH2):c.3843G>A (p.Ala1281=)
NM_017534.6(MYH2):c.3848G>C (p.Arg1283Thr)
NM_017534.6(MYH2):c.3848G>T (p.Arg1283Met) rs2073371857
NM_017534.6(MYH2):c.3849G>A (p.Arg1283=) rs1349060342
NM_017534.6(MYH2):c.384C>G (p.Pro128=)
NM_017534.6(MYH2):c.384C>T (p.Pro128=) rs776836063
NM_017534.6(MYH2):c.3851G>C (p.Gly1284Ala)
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser) rs374494789
NM_017534.6(MYH2):c.3853C>T (p.Arg1285Cys)
NM_017534.6(MYH2):c.3871+19G>A
NM_017534.6(MYH2):c.3871+5C>T
NM_017534.6(MYH2):c.3872G>T (p.Gly1291Val) rs747924610
NM_017534.6(MYH2):c.3882A>G (p.Ser1294=)
NM_017534.6(MYH2):c.3892G>A (p.Asp1298Asn) rs1046313955
NM_017534.6(MYH2):c.3904G>C (p.Ala1302Pro)
NM_017534.6(MYH2):c.3919T>C (p.Leu1307=) rs1597449539
NM_017534.6(MYH2):c.3934C>G (p.Gln1312Glu)
NM_017534.6(MYH2):c.3943A>T (p.Thr1315Ser)
NM_017534.6(MYH2):c.3944C>T (p.Thr1315Ile)
NM_017534.6(MYH2):c.3958G>A (p.Glu1320Lys)
NM_017534.6(MYH2):c.3961T>C (p.Leu1321=) rs2142295884
NM_017534.6(MYH2):c.3966G>A (p.Lys1322=)
NM_017534.6(MYH2):c.3968G>A (p.Arg1323Lys)
NM_017534.6(MYH2):c.3975T>C (p.Leu1325=)
NM_017534.6(MYH2):c.3979G>A (p.Glu1327Lys) rs2142295860
NM_017534.6(MYH2):c.3990+7A>G
NM_017534.6(MYH2):c.3999C>T (p.Asn1333=)
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850
NM_017534.6(MYH2):c.399T>C (p.Pro133=) rs11078850
NM_017534.6(MYH2):c.3G>C (p.Met1Ile)
NM_017534.6(MYH2):c.4000G>A (p.Ala1334Thr) rs779257410
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser) rs779257410
NM_017534.6(MYH2):c.4007C>A (p.Ala1336Glu) rs138470281
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.4008G>A (p.Ala1336=) rs764189342
NM_017534.6(MYH2):c.4008G>T (p.Ala1336=) rs764189342
NM_017534.6(MYH2):c.4010A>G (p.His1337Arg) rs996870471
NM_017534.6(MYH2):c.4021T>A (p.Ser1341Thr) rs554321580
NM_017534.6(MYH2):c.4026C>T (p.Ser1342=) rs1327908916
NM_017534.6(MYH2):c.4027C>G (p.Arg1343Gly) rs145911509
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp) rs776018379
NM_017534.6(MYH2):c.4062G>A (p.Glu1354=) rs2142295471
NM_017534.6(MYH2):c.4083C>G (p.Ala1361=) rs780127918
NM_017534.6(MYH2):c.4083C>T (p.Ala1361=) rs780127918
NM_017534.6(MYH2):c.4092G>A (p.Gln1364=)
NM_017534.6(MYH2):c.409C>T (p.Pro137Ser)
NM_017534.6(MYH2):c.4102T>C (p.Ser1368Pro)
NM_017534.6(MYH2):c.4127A>G (p.Gln1376Arg)
NM_017534.6(MYH2):c.4134G>A (p.Arg1378=)
NM_017534.6(MYH2):c.4140A>G (p.Lys1380=)
NM_017534.6(MYH2):c.4153G>A (p.Ala1385Thr)
NM_017534.6(MYH2):c.4185C>G (p.Ala1395=)
NM_017534.6(MYH2):c.4187+15A>G
NM_017534.6(MYH2):c.4187+16T>A
NM_017534.6(MYH2):c.4187+19G>C rs751997182
NM_017534.6(MYH2):c.4187+6T>C rs748256368
NM_017534.6(MYH2):c.4188-11T>G
NM_017534.6(MYH2):c.4195C>A (p.Leu1399Met)
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys) rs780588979
NM_017534.6(MYH2):c.4227T>C (p.His1409=)
NM_017534.6(MYH2):c.4237G>A (p.Val1413Met)
NM_017534.6(MYH2):c.4242C>A (p.Asn1414Lys) rs146615128
NM_017534.6(MYH2):c.4260C>T (p.Leu1420=)
NM_017534.6(MYH2):c.4275G>A (p.Gln1425=) rs2142294160
NM_017534.6(MYH2):c.4276C>T (p.Arg1426Trp) rs773071482
NM_017534.6(MYH2):c.4277G>A (p.Arg1426Gln)
NM_017534.6(MYH2):c.4284G>A (p.Gln1428=) rs1597448706
NM_017534.6(MYH2):c.4287T>C (p.Asn1429=)
NM_017534.6(MYH2):c.4290G>A (p.Glu1430=)
NM_017534.6(MYH2):c.4293C>G (p.Val1431=)
NM_017534.6(MYH2):c.4293C>T (p.Val1431=)
NM_017534.6(MYH2):c.4296G>A (p.Glu1432=)
NM_017534.6(MYH2):c.4297G>A (p.Asp1433Asn)
NM_017534.6(MYH2):c.4302C>T (p.Leu1434=)
NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)
NM_017534.6(MYH2):c.430C>T (p.Arg144Ter)
NM_017534.6(MYH2):c.4317G>A (p.Glu1439=)
NM_017534.6(MYH2):c.4337C>G (p.Ala1446Gly) rs1567728069
NM_017534.6(MYH2):c.4339G>A (p.Ala1447Thr)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017534.6(MYH2):c.435C>A (p.Gly145=)
NM_017534.6(MYH2):c.4365C>T (p.Phe1455=)
NM_017534.6(MYH2):c.4368T>C (p.Asp1456=)
NM_017534.6(MYH2):c.4371+12A>G
NM_017534.6(MYH2):c.4371+14C>T rs1182416611
NM_017534.6(MYH2):c.4371+15A>G
NM_017534.6(MYH2):c.4371+1del
NM_017534.6(MYH2):c.4371+8C>G rs368534809
NM_017534.6(MYH2):c.4372-11del rs2073341840
NM_017534.6(MYH2):c.4372-17A>C
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
NM_017534.6(MYH2):c.4438del (p.Ala1480fs) rs2073340697
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val) rs1303566428
NM_017534.6(MYH2):c.443G>A (p.Arg148His)
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=) rs2073340376
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val) rs1034624770
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
NM_017534.6(MYH2):c.4511del (p.Leu1504fs) rs2142293598
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=) rs1597448386
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro) rs1049022189
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp) rs753714787
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser) rs764004345
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr) rs1165680648
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)
NM_017534.6(MYH2):c.4537+12T>C rs2142293495
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017534.6(MYH2):c.4537+2T>G rs2142293525
NM_017534.6(MYH2):c.4537+5G>C rs1131691628
NM_017534.6(MYH2):c.4537+9C>A
NM_017534.6(MYH2):c.4538-14T>C
NM_017534.6(MYH2):c.453C>T (p.Ala151=)
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
NM_017534.6(MYH2):c.455C>T (p.Pro152Leu)
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del) rs774357063
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp) rs1243834294
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn) rs2142293289
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val) rs2073336915
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val) rs2073336612
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly) rs2142293220
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn) rs776862337
NM_017534.6(MYH2):c.462C>T (p.His154=) rs1440894208
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro) rs947669039
NM_017534.6(MYH2):c.4647T>C (p.Ala1549=)
NM_017534.6(MYH2):c.465C>A (p.Ile155=) rs777358650
NM_017534.6(MYH2):c.4662+15G>A rs2142293098
NM_017534.6(MYH2):c.4662+19A>G rs759241520
NM_017534.6(MYH2):c.4662+1G>A
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
NM_017534.6(MYH2):c.4663-1G>C
NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr) rs1597448095
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg) rs1555569889
NM_017534.6(MYH2):c.468C>T (p.Phe156=) rs1555572051
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr) rs2073333613
NM_017534.6(MYH2):c.469T>G (p.Ser157Ala)
NM_017534.6(MYH2):c.470C>T (p.Ser157Phe)
NM_017534.6(MYH2):c.4731G>A (p.Glu1577=)
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr) rs2142292793
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=) rs1267908976
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=) rs1382560529
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter) rs772613828
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=) rs2142292649
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val) rs2142292645
NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)
NM_017534.6(MYH2):c.4842del (p.Asn1615fs) rs2073330917
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)
NM_017534.6(MYH2):c.484G>A (p.Ala162Thr)
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe) rs2142292545
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)
NM_017534.6(MYH2):c.4894G>T (p.Glu1632Ter)
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=) rs2142292423
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
NM_017534.6(MYH2):c.4971+12C>T
NM_017534.6(MYH2):c.4971+6T>C
NM_017534.6(MYH2):c.4972-19A>G
NM_017534.6(MYH2):c.4972-2A>T rs201790813
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)
NM_017534.6(MYH2):c.4976C>T (p.Thr1659Ile)
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly) rs773964603
NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)
NM_017534.6(MYH2):c.5013G>A (p.Glu1671=) rs748695702
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn) rs1204274669
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=) rs2142292077
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)
NM_017534.6(MYH2):c.505+10C>A
NM_017534.6(MYH2):c.505+17C>T
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr) rs2073324867
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5094G>A (p.Leu1698=)
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg) rs2142291882
NM_017534.6(MYH2):c.5152C>A (p.Arg1718Ser) rs1161860650
NM_017534.6(MYH2):c.5152C>T (p.Arg1718Cys)
NM_017534.6(MYH2):c.5155G>A (p.Val1719Ile)
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser) rs202050465
NM_017534.6(MYH2):c.5173C>G (p.Gln1725Glu) rs2073322886
NM_017534.6(MYH2):c.5176-4A>G rs879251009
NM_017534.6(MYH2):c.5180C>G (p.Thr1727Ser) rs750223323
NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile) rs750223323
NM_017534.6(MYH2):c.5183G>A (p.Ser1728Asn)
NM_017534.6(MYH2):c.5185C>G (p.Leu1729Val)
NM_017534.6(MYH2):c.5221T>C (p.Ser1741Pro)
NM_017534.6(MYH2):c.5231A>G (p.Gln1744Arg) rs1050104425
NM_017534.6(MYH2):c.5235A>G (p.Gly1745=) rs746307508
NM_017534.6(MYH2):c.5238G>C (p.Glu1746Asp)
NM_017534.6(MYH2):c.5250T>C (p.Ile1750=) rs1062504
NM_017534.6(MYH2):c.525C>T (p.Ile175=)
NM_017534.6(MYH2):c.5260G>T (p.Ala1754Ser) rs2073314725
NM_017534.6(MYH2):c.5284AAG[1] (p.Lys1763del)
NM_017534.6(MYH2):c.5301T>C (p.Asp1767=) rs2073313827
NM_017534.6(MYH2):c.5302-10del rs2073312748
NM_017534.6(MYH2):c.5302-5T>C
NM_017534.6(MYH2):c.5302-9G>T
NM_017534.6(MYH2):c.5311A>G (p.Met1771Val) rs2073312358
NM_017534.6(MYH2):c.533+2T>G rs2142319855
NM_017534.6(MYH2):c.5332del (p.Glu1778fs)
NM_017534.6(MYH2):c.534-10G>A rs2142319744
NM_017534.6(MYH2):c.534-21_534-12del
NM_017534.6(MYH2):c.5359C>A (p.Arg1787=)
NM_017534.6(MYH2):c.5359C>T (p.Arg1787Trp)
NM_017534.6(MYH2):c.5363T>C (p.Met1788Thr)
NM_017534.6(MYH2):c.5371_5391del (p.Asn1791_Lys1797del) rs2142290581
NM_017534.6(MYH2):c.5374A>G (p.Met1792Val)
NM_017534.6(MYH2):c.5382G>C (p.Gln1794His) rs1567726803
NM_017534.6(MYH2):c.5385C>T (p.Thr1795=)
NM_017534.6(MYH2):c.5405G>T (p.Arg1802Leu)
NM_017534.6(MYH2):c.5414A>C (p.Glu1805Ala)
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro) rs2073593497
NM_017534.6(MYH2):c.542C>A (p.Ser181Tyr)
NM_017534.6(MYH2):c.5446A>G (p.Lys1816Glu)
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)
NM_017534.6(MYH2):c.5462T>C (p.Leu1821Pro) rs2073310003
NM_017534.6(MYH2):c.5466G>T (p.Glu1822Asp)
NM_017534.6(MYH2):c.5473-2A>C rs2142290339
NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile) rs1462537897
NM_017534.6(MYH2):c.5511G>C (p.Lys1837Asn)
NM_017534.6(MYH2):c.5518G>A (p.Ala1840Thr) rs2073307748
NM_017534.6(MYH2):c.5525C>A (p.Ala1842Asp)
NM_017534.6(MYH2):c.5553G>A (p.Arg1851=)
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu) rs769778269
NM_017534.6(MYH2):c.5566C>G (p.Leu1856Val)
NM_017534.6(MYH2):c.5569A>G (p.Thr1857Ala)
NM_017534.6(MYH2):c.5577+5A>G
NM_017534.6(MYH2):c.5577+9A>G
NM_017534.6(MYH2):c.5578-19A>G rs2073305593
NM_017534.6(MYH2):c.5579C>G (p.Thr1860Arg) rs148724880
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)
NM_017534.6(MYH2):c.5584G>C (p.Glu1862Gln)
NM_017534.6(MYH2):c.5589T>C (p.Asp1863=)
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs) rs1567726515
NM_017534.6(MYH2):c.5597A>G (p.Asn1866Ser)
NM_017534.6(MYH2):c.559G>A (p.Val187Met)
NM_017534.6(MYH2):c.5647T>C (p.Ser1883Pro) rs746016363
NM_017534.6(MYH2):c.5652T>C (p.Tyr1884=) rs2142289887
NM_017534.6(MYH2):c.5652_5656del (p.Tyr1884_Arg1886delinsTer)
NM_017534.6(MYH2):c.5653A>G (p.Lys1885Glu)
NM_017534.6(MYH2):c.5671G>T (p.Ala1891Ser)
NM_017534.6(MYH2):c.5672C>T (p.Ala1891Val)
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.5673+3A>C rs2142289859
NM_017534.6(MYH2):c.5673+4_5673+7del
NM_017534.6(MYH2):c.5673+5G>A
NM_017534.6(MYH2):c.5674-16C>T
NM_017534.6(MYH2):c.5674-5C>T
NM_017534.6(MYH2):c.5680C>T (p.Gln1894Ter)
NM_017534.6(MYH2):c.5690C>G (p.Thr1897Ser) rs1480289239
NM_017534.6(MYH2):c.573T>A (p.Arg191=) rs2073593239
NM_017534.6(MYH2):c.5750A>G (p.Asp1917Gly)
NM_017534.6(MYH2):c.5753T>C (p.Ile1918Thr)
NM_017534.6(MYH2):c.5755G>A (p.Ala1919Thr) rs1464949119
NM_017534.6(MYH2):c.5779C>A (p.Arg1927=) rs767382926
NM_017534.6(MYH2):c.5801A>C (p.His1934Pro)
NM_017534.6(MYH2):c.5G>T (p.Ser2Ile)
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp) rs1266665896
NM_017534.6(MYH2):c.633T>G (p.Thr211=)
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)
NM_017534.6(MYH2):c.651G>T (p.Gly217=) rs2142319416
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr) rs367639163
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg) rs1389727909
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp) rs1567736673
NM_017534.6(MYH2):c.70C>G (p.Arg24Gly)
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.715G>A (p.Val239Met)
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu) rs141174023
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)
NM_017534.6(MYH2):c.741+11T>C rs1006764609
NM_017534.6(MYH2):c.741+17C>T
NM_017534.6(MYH2):c.741+1G>A rs770945288
NM_017534.6(MYH2):c.741+6T>C rs2142319220
NM_017534.6(MYH2):c.742-1G>C rs2142318412
NM_017534.6(MYH2):c.75T>C (p.Ile25=) rs1426892693
NM_017534.6(MYH2):c.762C>A (p.His254Gln) rs2073579202
NM_017534.6(MYH2):c.764T>C (p.Phe255Ser)
NM_017534.6(MYH2):c.781C>T (p.Leu261=) rs1191670471
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro) rs1597457334
NM_017534.6(MYH2):c.798T>G (p.Ile266Met) rs2073578403
NM_017534.6(MYH2):c.805+12G>T
NM_017534.6(MYH2):c.805+16del
NM_017534.6(MYH2):c.806-20T>C
NM_017534.6(MYH2):c.844G>A (p.Ala282Thr)
NM_017534.6(MYH2):c.897A>T (p.Glu299Asp) rs201854230
NM_017534.6(MYH2):c.903T>C (p.Ile301=)
NM_017534.6(MYH2):c.904+19C>A
NM_017534.6(MYH2):c.904+19C>T
NM_017534.6(MYH2):c.904+1G>A rs879255253
NM_017534.6(MYH2):c.905-17C>T
NM_017534.6(MYH2):c.905-8G>A
NM_017534.6(MYH2):c.919A>G (p.Thr307Ala)
NM_017534.6(MYH2):c.91C>A (p.Pro31Thr)
NM_017534.6(MYH2):c.91C>T (p.Pro31Ser)
NM_017534.6(MYH2):c.923C>T (p.Thr308Met) rs2073541339
NM_017534.6(MYH2):c.924G>A (p.Thr308=)
NM_017534.6(MYH2):c.92C>T (p.Pro31Leu)
NM_017534.6(MYH2):c.930A>G (p.Pro310=) rs2142314920
NM_017534.6(MYH2):c.946G>A (p.Val316Ile)
NM_017534.6(MYH2):c.950G>T (p.Ser317Ile) rs1567735281
NM_017534.6(MYH2):c.956G>A (p.Gly319Glu) rs2142314883
NM_017534.6(MYH2):c.957G>A (p.Gly319=) rs770934297
NM_017534.6(MYH2):c.974G>C (p.Ser325Thr)
NM_017534.6(MYH2):c.978C>A (p.Ile326=) rs1001051198
NM_017534.6(MYH2):c.988G>A (p.Glu330Lys)
NM_017534.6(MYH2):c.994C>T (p.Leu332=) rs907817512
NM_017534.6(MYH2):c.998T>C (p.Met333Thr)

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