PMID: 29687901

Thick Filament Protein Network, Functions, and Disease Association.

Comprehensive Physiology
L Wang, J Geist, A Grogan, LR Hu, A Kontrogianni-Konstantopoulos
2018-03-13

273 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
18-3188778-C-T MYOM1 c.739G>A p.Glu247Lys Missense 4/38 -
11-47356655-T-G MYBPC3 c.2843A>C p.Asn948Thr Missense 27/35 -
11-47362758-C-T MYBPC3 c.1828G>A p.Asp610Asn Missense 19/35 -
11-47362758-C-G MYBPC3 c.1828G>C p.Asp610His Missense 19/35 -
17-10543521-A-T MYH3 c.2474T>A p.Val825Asp Missense 22/41 -
17-10543495-AAGA-A MYH3 c.2503_2505delTTC p.Phe835delPhe InFrameDeletion 22/41 -
14-23868126-G-A MYH6 c.1702C>T p.Arg568Cys Missense 15/39 -
14-23885449-C-T MYH7 c.4717G>A p.Glu1573Lys Missense 34/40 -
19-50944271-C-T MYBPC2 c.707C>T p.Thr236Ile Missense 8/28 -
14-23865497-G-A MYH6 c.2425C>T p.Arg809Cys Missense 20/39 -
14-23886762-A-G MYH7 c.4303T>C p.Ser1435Pro Missense 31/40 -
14-23893253-C-T MYH7 c.2785G>A p.Glu929Lys Missense 23/40 -
11-47367887-C-T MYBPC3 c.961G>A p.Val321Met Missense 12/35 -
12-111351122-T-G MYL2 c.281A>C p.Asp94Ala Missense 5/7 -
11-47361308-C-T MYBPC3 c.1961G>A p.Arg654His Missense 21/35 -
14-23884419-T-C MYH7 c.5344A>G p.Met1782Val Missense 37/40 -
3-46899916-T-C MYL3 c.517A>G p.Met173Val Missense 5/7 -
14-23900798-C-T MYH7 c.728G>A p.Arg243His Missense 8/40 -
14-23897090-A-C MYH7 c.1592T>G p.Met531Arg Missense 16/40 -
11-47367842-T-C MYBPC3 c.1006A>G p.Ile336Val Missense 12/35 -
14-23885010-C-G MYH7 c.4985G>C p.Arg1662Pro Missense 35/40 -
12-111356937-C-T MYL2 c.64G>A p.Glu22Lys Missense 2/7 -
12-111353556-A-C MYL2 c.132T>G p.Ile44Met Missense 3/7 -
17-10436629-A-G MYH2 c.2414T>C p.Val805Ala Missense 21/40 -
14-23887557-C-T MYH7 c.4031G>A p.Arg1344Gln Missense 30/40 -
14-23884385-A-G MYH7 c.5378T>C p.Leu1793Pro Missense 37/40 -
14-23852442-C-T MYH6 c.5653G>A p.Glu1885Lys Missense 37/39 -
12-111356943-T-G MYL2 c.58A>C p.Met20Leu Missense 2/7 -
14-23900678-G-C MYH7 c.745C>G p.Arg249Gly Missense 9/40 -
17-10440855-A-G MYH2 c.1592T>C p.Met531Thr Missense 16/40 -
1-228529177-G-A OBSCN c.17896G>A p.Asp5966Asn Missense 74/81 -
14-23884990-TCCT-T MYH7 c.5005_5007delGAG p.Glu1669delGlu InFrameDeletion 35/40 -
14-23872967-G-C MYH6 c.756C>G p.His252Gln Missense 9/39 -
12-111352091-C-T MYL2 c.173G>A p.Arg58Gln Missense 4/7 -
11-47360071-C-T MYBPC3 c.2308G>A p.Asp770Asn Missense 23/35 -
14-23893234-T-A MYH7 c.2804A>T p.Glu935Val Missense 23/40 -
14-23883018-C-T MYH7 c.5740G>A p.Glu1914Lys Missense 39/40 -
12-111356943-T-A MYL2 c.58A>T p.Met20Leu Missense 2/7 -
14-23900999-G-A MYH7 c.610C>T p.Arg204Cys Missense 7/40 -
14-23876383-C-T MYH6 c.50G>A p.Arg17His Missense 3/39 -
11-47372936-A-C MYBPC3 c.146T>G p.Ile49Ser Missense 2/35 -
14-23896462-G-A MYH7 c.1943C>T p.Ser648Leu Missense 17/40 -
12-111351093-T-C MYL2 c.310A>G p.Lys104Glu Missense 5/7 -
14-23886439-A-G MYH7 c.4442T>C p.Leu1481Pro Missense 32/40 -
14-23894003-T-G MYH7 c.2654A>C p.Asn885Thr Missense 22/40 -
11-47360895-C-T MYBPC3 c.2128G>A p.Glu710Lys Missense 22/35 -
14-23895233-C-T MYH7 c.2102G>A p.Gly701Asp Missense 19/40 -
14-23873552-C-G MYH6 c.688G>C p.Ala230Pro Missense 8/39 -
14-23898169-A-G MYH7 c.1402T>C p.Phe468Leu Missense 14/40 -
14-23894905-T-C MYH7 c.2285A>G p.Lys762Arg Missense 20/40 -
3-46901001-T-C MYL3 c.445A>G p.Met149Val Missense 4/7 -
14-23898476-C-A MYH7 c.1219G>T p.Gly407Cys Missense 13/40 -
14-23884421-C-T MYH7 c.5342G>A p.Arg1781His Missense 37/40 -
3-46902238-C-T MYL3 c.235G>A p.Val79Ile Missense 3/7 -
1-228511299-G-A OBSCN c.15644G>A p.Arg5215His Missense 56/81 -
14-23894157-A-G MYH7 c.2500T>C p.Phe834Leu Missense 22/40 -
17-10543770-C-A MYH3 c.2306G>T p.Gly769Val Missense 21/41 -
17-10551884-GGAG-G MYH3 c.727_729delTCC p.Ser243delSer InFrameDeletion 8/41 -
14-23863503-A-T MYH6 c.2459T>A p.Ile820Asn Missense 21/39 -
14-23899074-A-T MYH7 c.1048T>A p.Tyr350Asn Missense 12/40 -
14-23894525-C-T MYH7 c.2389G>A p.Ala797Thr Missense 21/40 -
11-47354485-A-G MYBPC3 c.3370T>C p.Cys1124Arg Missense 31/35 -
11-47364284-C-A MYBPC3 c.1469G>T p.Gly490Val Missense 17/35 -
1-228412393-G-A OBSCN c.2887G>A p.Glu963Lys Missense 9/81 -
14-23893328-G-A MYH7 c.2710C>T p.Arg904Cys Missense 23/40 -
17-10549146-A-T MYH3 c.1019T>A p.Leu340Gln Missense 12/41 -
11-47364580-A-G MYBPC3 c.1343T>C p.Phe448Ser Missense 15/35 -
14-23885260-C-G MYH7 c.4906G>C p.Ala1636Pro Missense 34/40 -
11-47353658-C-T MYBPC3 c.3779G>A p.Gly1260Asp Missense 33/35 -
11-47364189-C-T MYBPC3 c.1564G>A p.Ala522Thr Missense 17/35 -
14-23901935-C-A MYH7 c.415G>T p.Val139Leu Missense 5/40 -
3-46901019-C-T MYL3 c.427G>A p.Glu143Lys Missense 4/7 -
11-47362772-T-C MYBPC3 c.1814A>G p.Asp605Gly Missense 19/35 -
14-23893331-C-G MYH7 c.2707G>C p.Glu903Gln Missense 23/40 -
17-10550742-C-G MYH3 c.737G>C p.Gly246Ala Missense 9/41 -
3-46900983-G-C MYL3 c.463C>G p.His155Asp Missense 4/7 -
17-10535839-G-A MYH3 c.4910C>T p.Ala1637Val Missense 34/41 -
14-23856987-C-T MYH6 c.4505G>A p.Arg1502Gln Missense 31/39 -
11-47363566-C-T MYBPC3 c.1766G>A p.Arg589His Missense 18/35 -
17-10546231-T-C MYH3 c.1493A>G p.Glu498Gly Missense 15/41 -
11-47357547-G-A MYBPC3 c.2618C>T p.Pro873Leu Missense 26/35 -
14-23901862-T-G MYH7 c.488A>C p.Gln163Pro Missense 5/40 -
11-47357547-G-T MYBPC3 c.2618C>A p.Pro873His Missense 26/35 -
14-23876267-C-T MYH6 c.166G>A p.Gly56Arg Missense 3/39 -
11-47370034-C-T MYBPC3 c.713G>A p.Arg238His Missense 6/35 -
3-46900992-C-T MYL3 c.454G>A p.Glu152Lys Missense 4/7 -
17-45286819-G-A MYL4 c.31G>A p.Glu11Lys Missense 2/8 -
11-47353801-A-C MYBPC3 c.3636T>G p.Ile1212Met Missense 33/35 -
14-23883305-C-T MYH7 c.5566G>A p.Glu1856Lys Missense 38/40 -
17-10549250-G-C MYH3 c.998C>G p.Thr333Arg Missense 11/41 -
17-10547693-T-C MYH3 c.1385A>G p.Asp462Gly Missense 14/41 -
14-23898247-G-C MYH7 c.1324C>G p.Arg442Gly Missense 14/40 -
11-47356715-G-A MYBPC3 c.2783C>T p.Ser928Leu Missense 27/35 -
11-47369220-C-T MYBPC3 c.833G>A p.Gly278Glu Missense 8/35 -
11-47353643-T-A MYBPC3 c.3794A>T p.Glu1265Val Missense 33/35 -
11-47356628-G-C MYBPC3 c.2870C>G p.Thr957Ser Missense 27/35 -
11-47357437-G-T MYBPC3 c.2728C>A p.Pro910Thr Missense 26/35 -
14-23899848-G-T MYH7 c.920C>A p.Pro307His Missense 11/40 -
14-23852501-C-T MYH6 c.5594G>A p.Arg1865Gln Missense 37/39 -
5-40947737-G-A C7 c.772G>A p.Glu258Lys Missense 8/18 -
14-23862646-C-A MYH6 c.3010G>T p.Ala1004Ser Missense 23/39 -
1-228509109-G-A OBSCN c.14567G>A p.Arg4856His Missense 55/81 -
14-23894999-G-C MYH7 c.2191C>G p.Pro731Ala Missense 20/40 -
17-10546212-C-A MYH3 c.1512G>T p.Lys504Asn Missense 15/41 -
14-23894061-A-G MYH7 c.2596T>C p.Ser866Pro Missense 22/40 -
11-47359085-C-T MYBPC3 c.2459G>A p.Arg820Gln Missense 25/35 -
14-23859652-G-T MYH6 c.3346C>A p.Arg1116Ser Missense 26/39 -
11-47353781-A-G MYBPC3 c.3656T>C p.Leu1219Pro Missense 33/35 -
12-111351120-G-C MYL2 c.283C>G p.Pro95Ala Missense 5/7 -
3-46902303-G-C MYL3 c.170C>G p.Ala57Gly Missense 3/7 -
3-46902303-G-T MYL3 c.170C>A p.Ala57Asp Missense 3/7 -
17-10543483-T-C MYH3 c.2512A>G p.Lys838Glu Missense 22/41 -
17-10545874-T-G MYH3 c.1748A>C p.Tyr583Ser Missense 16/41 -
11-47355475-G-C MYBPC3 c.2992C>G p.Gln998Glu Missense 28/35 -
12-111356958-A-C MYL2 c.43T>G p.Ser15Ala Missense 2/7 -
17-10447417-G-A MYH2 c.533C>T p.Thr178Ile Missense 6/40 -
17-10547681-A-C MYH3 c.1397T>G p.Phe466Cys Missense 14/41 -
14-23885229-A-G MYH7 c.4937T>C p.Leu1646Pro Missense 34/40 -
17-10550522-G-C MYH3 c.875C>G p.Ser292Cys Missense 10/41 -
14-23894024-A-G MYH7 c.2633T>C p.Val878Ala Missense 22/40 -
11-47371592-G-A MYBPC3 c.478C>T p.Arg160Trp Missense 4/35 -
14-23895266-A-G MYH7 c.2069T>C p.Met690Thr Missense 19/40 -
11-47359115-C-T MYBPC3 c.2429G>A p.Arg810His Missense 25/35 -
12-111356949-A-G MYL2 c.52T>C p.Phe18Leu Missense 2/7 -
14-23900672-G-T MYH7 c.751C>A p.His251Asn Missense 9/40 -
17-10538825-A-G MYH3 c.4031T>C p.Leu1344Pro Missense 30/41 -
14-23885376-A-C MYH7 c.4790T>G p.Leu1597Arg Missense 34/40 -
1-228503566-G-A OBSCN c.13031G>A p.Arg4344Gln Missense 50/81 -
14-23896884-G-A MYH7 c.1798C>T p.Pro600Ser Missense 16/40 -
11-47359040-C-A MYBPC3 c.2504G>T p.Arg835Leu Missense 25/35 -
1-203138970-A-G MYBPH c.1093+449T>C - IntronicSNV - 7/10
1-203138970-A-T MYBPH c.1093+449T>A - IntronicSNV - 7/10
14-23894970-C-A MYH7 c.2220G>T p.Lys740Asn Missense 20/40 -
17-10542385-T-G MYH3 c.3224A>C p.Gln1075Pro Missense 25/41 -
1-228469861-T-G OBSCN c.8425T>G p.Phe2809Val Missense 31/81 -
14-23893294-A-G MYH7 c.2744T>C p.Leu915Pro Missense 23/40 -
14-23894132-C-T MYH7 c.2525G>A p.Ser842Asn Missense 22/40 -
11-47354184-A-C MYBPC3 c.3560T>G p.Leu1187Arg Missense 32/35 -
14-23866179-G-A MYH6 c.2161C>T p.Arg721Trp Missense 18/39 -
14-23857405-C-G MYH6 c.4318G>C p.Ala1440Pro Missense 30/39 -
11-47354442-C-T MYBPC3 c.3413G>A p.Arg1138His Missense 31/35 -
3-46902306-T-C MYL3 c.167A>G p.Glu56Gly Missense 3/7 -
11-47364248-C-T MYBPC3 c.1505G>A p.Arg502Gln Missense 17/35 -
11-47371422-G-A MYBPC3 c.557C>T p.Pro186Leu Missense 5/35 -
14-23894908-G-T MYH7 c.2282C>A p.Thr761Asn Missense 20/40 -
14-23858146-G-T MYH6 c.4097C>A p.Ala1366Asp Missense 29/39 -
11-47363668-A-G MYBPC3 c.1664T>C p.Met555Thr Missense 18/35 -
11-47360203-G-A MYBPC3 c.2176C>T p.Arg726Cys Missense 23/35 -
14-23863473-G-A MYH6 c.2489C>T p.Pro830Leu Missense 21/39 -
14-23894970-C-G MYH7 c.2220G>C p.Lys740Asn Missense 20/40 -
14-23884383-G-T MYH7 c.5380C>A p.Gln1794Lys Missense 37/40 -
11-47371333-C-T MYBPC3 c.646G>A p.Ala216Thr Missense 5/35 -
12-111348950-CAG-C MYL2 c.431_432delCT p.Pro144Argfs*68 Frameshift 7/7 -
1-228504574-G-A OBSCN c.13450G>A p.Ala4484Thr Missense 51/81 -
14-23889398-C-T MYH7 c.3382G>A p.Ala1128Thr Missense 27/40 -
14-23895212-C-G MYH7 c.2123G>C p.Gly708Ala Missense 19/40 -
14-23887513-G-A MYH7 c.4075C>T p.Arg1359Cys Missense 30/40 -
14-23901011-C-T MYH7 c.598G>A p.Ala200Thr Missense 7/40 -
14-23885476-C-T MYH7 c.4690G>A p.Glu1564Lys Missense 34/40 -
14-23900850-C-T MYH7 c.676G>A p.Ala226Thr Missense 8/40 -
11-47370092-C-A MYBPC3 c.655G>T p.Val219Phe Missense 6/35 -
18-3083803-C-T MYOM1 c.4468G>A p.Val1490Ile Missense 33/38 -
11-47369412-G-A MYBPC3 c.817C>T p.Arg273Cys Missense 7/35 -
14-23894026-C-A MYH7 c.2631G>T p.Met877Ile Missense 22/40 -
17-10547769-A-T MYH3 c.1309T>A p.Phe437Ile Missense 14/41 -
14-23859469-G-A MYH6 c.3529C>T p.Arg1177Trp Missense 26/39 -
14-23896982-C-T MYH7 c.1700G>A p.Arg567His Missense 16/40 -
11-47371447-C-T MYBPC3 c.532G>A p.Val178Met Missense 5/35 -
11-47357479-C-T MYBPC3 c.2686G>A p.Val896Met Missense 26/35 -
11-47370038-A-G MYBPC3 c.709T>C p.Tyr237His Missense 6/35 -
11-47369977-T-G MYBPC3 c.770A>C p.His257Pro Missense 6/35 -
17-10544634-C-T MYH3 c.2015G>A p.Arg672His Missense 18/41 -
14-23899037-A-C MYH7 c.1085T>G p.Met362Arg Missense 12/40 -
14-23887510-C-T MYH7 c.4078G>A p.Val1360Ile Missense 30/40 -
11-47363647-G-A MYBPC3 c.1685C>T p.Ala562Val Missense 18/35 -
14-23862177-C-G MYH6 c.3195G>C p.Gln1065His Missense 24/39 -
14-23899806-G-A MYH7 c.962C>T p.Ala321Val Missense 11/40 -
12-111350901-T-G MYL2 c.401A>C p.Glu134Ala Missense 6/7 -
11-47371449-C-T MYBPC3 c.530G>A p.Arg177His Missense 5/35 -
14-23868213-A-G MYH6 c.1615T>C p.Cys539Arg Missense 15/39 -
1-228431117-G-A OBSCN c.3163G>A p.Glu1055Lys Missense 10/81 -
11-47360922-C-T MYBPC3 c.2101G>A p.Ala701Thr Missense 22/35 -
3-46900985-C-T MYL3 c.461G>A p.Arg154His Missense 4/7 -
14-23887548-T-C MYH7 c.4040A>G p.Tyr1347Cys Missense 30/40 -
11-47355233-C-G MYBPC3 c.3065G>C p.Arg1022Pro Missense 29/35 -
14-23866242-C-T MYH6 c.2098G>A p.Val700Met Missense 18/39 -
14-23894225-A-G MYH7 c.2432T>C p.Leu811Pro Missense 22/40 -
11-47353666-G-T MYBPC3 c.3771C>A p.Asn1257Lys Missense 33/35 -
11-47363542-C-T MYBPC3 c.1790G>A p.Arg597Gln Missense 18/35 -
14-23899800-A-T MYH7 c.968T>A p.Ile323Asn Missense 11/40 -
14-23858107-G-A MYH6 c.4136C>T p.Thr1379Met Missense 29/39 -
17-10426471-A-G MYH2 c.5609T>C p.Leu1870Pro Missense 39/40 -
14-23898526-A-G MYH7 c.1169T>C p.Leu390Pro Missense 13/40 -
11-47365113-C-T MYBPC3 c.1153G>A p.Val385Met Missense 13/35 -
14-23872631-A-T MYH6 c.824T>A p.Ile275Asn Missense 10/39 -
17-10546175-C-A MYH3 c.1549G>T p.Asp517Tyr Missense 15/41 -
17-10544635-G-A MYH3 c.2014C>T p.Arg672Cys Missense 18/41 -
14-23886756-C-G MYH7 c.4309G>C p.Ala1437Pro Missense 31/40 -
14-23894114-T-C MYH7 c.2543A>G p.Glu848Gly Missense 22/40 -
1-228464412-T-A OBSCN c.6482T>A p.Val2161Asp Missense 22/81 -
17-10438454-C-T MYH2 c.2116G>A p.Glu706Lys Missense 19/40 -
14-23894155-G-T MYH7 c.2502C>A p.Phe834Leu Missense 22/40 -
14-23894155-G-C MYH7 c.2502C>G p.Phe834Leu Missense 22/40 -
14-23895001-A-T MYH7 c.2189T>A p.Ile730Asn Missense 20/40 -
11-47371375-T-G MYBPC3 c.604A>C p.Lys202Gln Missense 5/35 -
14-23885371-T-G MYH7 c.4795A>C p.Thr1599Pro Missense 34/40 -
11-47365154-G-C MYBPC3 c.1112C>G p.Pro371Arg Missense 13/35 -
14-23884705-A-G MYH7 c.5168T>C p.Leu1723Pro Missense 36/40 -
11-47371630-G-A MYBPC3 c.440C>T p.Pro147Leu Missense 4/35 -
14-23886479-C-T MYH7 c.4402G>A p.Glu1468Lys Missense 32/40 -
12-111348956-GG-G MYL2 c.431delC p.Pro144Leufs*3 Frameshift 7/7 -
11-47353646-C-A MYBPC3 c.3791G>T p.Cys1264Phe Missense 33/35 -
11-47370037-T-C MYBPC3 c.710A>G p.Tyr237Cys Missense 6/35 -
14-23857395-G-T MYH6 c.4328C>A p.Ala1443Asp Missense 30/39 -
11-47360094-A-T MYBPC3 c.2285T>A p.Val762Asp Missense 23/35 -
14-23886764-C-G MYH7 c.4301G>C p.Arg1434Pro Missense 31/40 -
17-10549042-C-T MYH3 c.1123G>A p.Glu375Lys Missense 12/41 -
14-23893246-T-G MYH7 c.2792A>C p.Glu931Ala Missense 23/40 -
11-47354193-G-T MYBPC3 c.3551C>A p.Thr1184Asn Missense 32/35 -
11-47361309-G-A MYBPC3 c.1960C>T p.Arg654Cys Missense 21/35 -
3-46901064-C-A MYL3 c.382G>T p.Gly128Cys Missense 4/7 -
14-23868200-T-C MYH6 c.1628A>G p.Lys543Arg Missense 15/39 -
11-47369415-G-A MYBPC3 c.814C>T p.Arg272Cys Missense 7/35 -
17-10447063-C-T MYH2 c.706G>A p.Ala236Thr Missense 8/40 -
12-111348900-T-C MYL2 c.482A>G p.His161Arg Missense 7/7 -
14-23884604-T-C MYH7 c.5269A>G p.Lys1757Glu Missense 36/40 -
12-111353547-G-T MYL2 c.141C>A p.Asn47Lys Missense 3/7 -
11-47364468-G-A MYBPC3 c.1370C>T p.Thr457Met Missense 16/35 -
14-23895236-T-C MYH7 c.2099A>G p.Glu700Gly Missense 19/40 -
11-47372991-C-G MYBPC3 c.91G>C p.Ala31Pro Missense 2/35 -
12-111356964-C-T MYL2 c.37G>A p.Ala13Thr Missense 2/7 -
14-23870000-C-G MYH6 c.1328G>C p.Arg443Pro Missense 13/39 -
11-47353641-A-G MYBPC3 c.3796T>C p.Cys1266Arg Missense 33/35 -
14-23886099-T-G MYH7 c.4622A>C p.Gln1541Pro Missense 33/40 -
11-47364272-G-A MYBPC3 c.1481C>T p.Thr494Ile Missense 17/35 -
11-47364129-C-G MYBPC3 c.1624G>C p.Glu542Gln Missense 17/35 -
14-23897810-T-C MYH7 c.1477A>G p.Met493Val Missense 15/40 -
19-50944328-G-C MYBPC2 c.764G>C p.Ser255Thr Missense 8/28 -
17-10550697-G-A MYH3 c.782C>T p.Ser261Phe Missense 9/41 -
11-47362755-C-T MYBPC3 c.1831G>A p.Glu611Lys Missense 19/35 -
12-111356947-G-C MYL2 c.54C>G p.Phe18Leu Missense 2/7 -
14-23868065-T-G MYH6 c.1763A>C p.Asp588Ala Missense 15/39 -
11-47354857-C-G MYBPC3 c.3218G>C p.Arg1073Pro Missense 30/35 -
14-23895185-T-C MYH7 c.2150A>G p.Asp717Gly Missense 19/40 -
14-23895230-A-T MYH7 c.2105T>A p.Ile702Asn Missense 19/40 -
12-111356947-G-T MYL2 c.54C>A p.Phe18Leu Missense 2/7 -
14-23885350-G-A MYH7 c.4816C>T p.Arg1606Cys Missense 34/40 -
11-47355558-C-T MYBPC3 c.2909G>A p.Arg970Gln Missense 28/35 -
14-23883032-C-G MYH7 c.5726G>C p.Arg1909Pro Missense 39/40 -
17-10535884-T-G MYH3 c.4865A>C p.Asp1622Ala Missense 34/41 -
14-23857123-C-T MYH6 c.4369G>A p.Glu1457Lys Missense 31/39 -
14-23883004-G-T MYH7 c.5754C>A p.Asn1918Lys Missense 39/40 -
17-10551909-C-T MYH3 c.700G>A p.Ala234Thr Missense 8/41 -
14-23900849-G-A MYH7 c.677C>T p.Ala226Val Missense 8/40 -
11-47364602-C-T MYBPC3 c.1321G>A p.Glu441Lys Missense 15/35 -
14-23896061-T-G MYH7 c.1969A>C p.Lys657Gln Missense 18/40 -
11-47364234-C-T MYBPC3 c.1519G>A p.Gly507Arg Missense 17/35 -
11-47362779-T-C MYBPC3 c.1807A>G p.Ile603Val Missense 19/35 -
14-23883004-G-C MYH7 c.5754C>G p.Asn1918Lys Missense 39/40 -
3-46901069-T-C MYL3 c.377A>G p.Asp126Gly Missense 4/7 -
11-47369209-G-A MYBPC3 c.844C>T p.Arg282Trp Missense 8/35 -
14-23884467-C-T MYH7 c.5296G>A p.Ala1766Thr Missense 37/40 -
17-10310241-C-T MYH8 c.2021G>A p.Arg674Gln Missense 18/40 -
17-10543476-GAGG-G MYH3 c.2521_2523delCTC p.Leu841delLeu InFrameDeletion 22/41 -
11-47364269-C-T MYBPC3 c.1484G>A p.Arg495Gln Missense 17/35 -
14-23898246-C-T MYH7 c.1325G>A p.Arg442His Missense 14/40 -
12-111348898-C-T MYL2 c.484G>A p.Gly162Arg Missense 7/7 -
14-23862233-G-A MYH6 c.3139C>T p.Arg1047Cys Missense 24/39 -
17-10552985-C-G MYH3 c.551G>C p.Gly184Ala Missense 7/41 -
14-23885331-A-G MYH7 c.4835T>C p.Leu1612Pro Missense 34/40 -
17-10534960-C-T MYH3 c.5254G>A p.Ala1752Thr Missense 36/41 -
11-47367871-C-T MYBPC3 c.977G>A p.Arg326Gln Missense 12/35 -
14-23900158-A-C MYH7 c.847T>G p.Tyr283Asp Missense 10/40 -