NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_004999.4(MYO6):c.553+11T>C
|
rs12210963
|
0.13246
|
NM_004999.4(MYO6):c.1722C>T (p.Asp574=)
|
rs11756446
|
0.04242
|
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=)
|
rs9443199
|
0.02151
|
NM_004999.4(MYO6):c.2658+20A>C
|
rs2295937
|
0.01861
|
NM_004999.4(MYO6):c.1176A>G (p.Thr392=)
|
rs2273857
|
0.01200
|
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)
|
rs41269323
|
0.00784
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_004999.4(MYO6):c.3333G>A (p.Val1111=)
|
rs114970874
|
0.00506
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_004999.4(MYO6):c.1656G>A (p.Lys552=)
|
rs111033431
|
0.00479
|
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=)
|
rs138437852
|
0.00470
|
NM_004999.4(MYO6):c.1674+13A>G
|
rs6925845
|
0.00447
|
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)
|
rs146461956
|
0.00424
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)
|
rs61734891
|
0.00266
|
NM_004999.4(MYO6):c.1224-4A>G
|
rs144031818
|
0.00238
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_004999.4(MYO6):c.2517T>C (p.Gly839=)
|
rs112597191
|
0.00135
|
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)
|
rs111530469
|
0.00134
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_004999.4(MYO6):c.2595C>T (p.Pro865=)
|
rs150876010
|
0.00124
|
NM_004999.4(MYO6):c.2078-19T>C
|
rs188730005
|
0.00105
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_004999.4(MYO6):c.2175A>G (p.Lys725=)
|
rs116571790
|
0.00088
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)
|
rs144038082
|
0.00056
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
NM_004999.4(MYO6):c.1182C>A (p.Val394=)
|
rs145568584
|
0.00040
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_004999.4(MYO6):c.18C>T (p.Pro6=)
|
rs138024490
|
0.00035
|
NM_004999.4(MYO6):c.52A>G (p.Met18Val)
|
rs142516093
|
0.00030
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=)
|
rs139174622
|
0.00024
|
NM_004999.4(MYO6):c.262-9C>T
|
rs187811833
|
0.00021
|
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)
|
rs202214380
|
0.00020
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
NM_004999.4(MYO6):c.262-12T>G
|
rs368072756
|
0.00017
|
NM_004999.4(MYO6):c.1224-15A>G
|
rs376927352
|
0.00016
|
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr)
|
rs573770611
|
0.00013
|
NM_004999.4(MYO6):c.553+13T>A
|
rs369806112
|
0.00013
|
NM_004999.4(MYO6):c.441C>T (p.Ile147=)
|
rs565770950
|
0.00012
|
NM_004999.4(MYO6):c.600C>T (p.Asn200=)
|
rs145665265
|
0.00011
|
NM_004999.4(MYO6):c.3439C>T (p.Pro1147Ser)
|
rs748774373
|
0.00007
|
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser)
|
rs367978681
|
0.00007
|
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile)
|
rs373519764
|
0.00006
|
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val)
|
rs373929865
|
0.00006
|
NM_004999.4(MYO6):c.2342T>A (p.Val781Asp)
|
rs750880162
|
0.00006
|
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met)
|
rs146682372
|
0.00006
|
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)
|
rs200205409
|
0.00006
|
NM_004999.4(MYO6):c.3269A>G (p.Asn1090Ser)
|
rs368097606
|
0.00006
|
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp)
|
rs189411232
|
0.00006
|
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)
|
rs371212410
|
0.00006
|
NM_004999.4(MYO6):c.553+10A>G
|
rs188959117
|
0.00005
|
NM_004999.4(MYO6):c.966G>A (p.Thr322=)
|
rs375754710
|
0.00005
|
NM_004999.4(MYO6):c.1926C>T (p.Ser642=)
|
rs184784079
|
0.00004
|
NM_004999.4(MYO6):c.3107+11C>T
|
rs201968938
|
0.00004
|
NM_004999.4(MYO6):c.3439+1G>A
|
rs146219669
|
0.00004
|
NM_004999.4(MYO6):c.596G>A (p.Arg199His)
|
rs140235734
|
0.00004
|
NM_004999.4(MYO6):c.91A>G (p.Ile31Val)
|
rs775035511
|
0.00004
|
NM_004999.4(MYO6):c.140A>G (p.Gln47Arg)
|
rs576924704
|
0.00003
|
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)
|
rs980820643
|
0.00003
|
NM_004999.4(MYO6):c.1939T>G (p.Phe647Val)
|
rs752585373
|
0.00003
|
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu)
|
rs374247860
|
0.00003
|
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg)
|
rs370061746
|
0.00003
|
NM_004999.4(MYO6):c.1945-16T>C
|
rs373824667
|
0.00002
|
NM_004999.4(MYO6):c.217C>G (p.Leu73Val)
|
rs759372006
|
0.00002
|
NM_004999.4(MYO6):c.27G>A (p.Ala9=)
|
rs767670766
|
0.00002
|
NM_004999.4(MYO6):c.297A>G (p.Pro99=)
|
rs375790985
|
0.00002
|
NM_004999.4(MYO6):c.3035T>C (p.Leu1012Pro)
|
rs757332098
|
0.00002
|
NM_004999.4(MYO6):c.3659-10A>G
|
rs765929647
|
0.00002
|
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His)
|
rs772457315
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)
|
rs766700803
|
0.00001
|
NM_004999.4(MYO6):c.1674+5G>A
|
rs761306925
|
0.00001
|
NM_004999.4(MYO6):c.2286+8T>C
|
rs780274416
|
0.00001
|
NM_004999.4(MYO6):c.2337G>A (p.Glu779=)
|
rs762207024
|
0.00001
|
NM_004999.4(MYO6):c.2508C>T (p.Arg836=)
|
rs1194065369
|
0.00001
|
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)
|
rs121912561
|
0.00001
|
NM_004999.4(MYO6):c.2837G>A (p.Arg946His)
|
rs781754117
|
0.00001
|
NM_004999.4(MYO6):c.2974C>T (p.Gln992Ter)
|
rs1778981404
|
0.00001
|
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg)
|
rs372968228
|
0.00001
|
NM_004999.4(MYO6):c.3137+5G>A
|
rs397517050
|
0.00001
|
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His)
|
rs1554223761
|
0.00001
|
NM_004999.4(MYO6):c.3704G>T (p.Gly1235Val)
|
rs199728355
|
0.00001
|
NM_004999.4(MYO6):c.498-11A>G
|
rs749261743
|
0.00001
|
NM_004999.4(MYO6):c.564C>T (p.Leu188=)
|
rs750374337
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_004999.4(MYO6):c.685C>T (p.Leu229Phe)
|
rs1301010120
|
0.00001
|
NC_000006.11:g.(?_76527265)_(76542684_?)dup
|
|
|
NC_000006.11:g.(?_76540113)_(76542684_?)dup
|
|
|
NM_004999.4(MYO6):c.1073C>T (p.Thr358Ile)
|
|
|
NM_004999.4(MYO6):c.1078+12A>G
|
|
|
NM_004999.4(MYO6):c.1078+19dup
|
rs144408691
|
|
NM_004999.4(MYO6):c.1078+6C>T
|
|
|
NM_004999.4(MYO6):c.1079G>A (p.Gly360Asp)
|
|
|
NM_004999.4(MYO6):c.1095G>A (p.Lys365=)
|
|
|
NM_004999.4(MYO6):c.1115T>C (p.Leu372Ser)
|
|
|
NM_004999.4(MYO6):c.1125del (p.Cys375fs)
|
|
|
NM_004999.4(MYO6):c.1128T>C (p.Ala376=)
|
rs1583282758
|
|
NM_004999.4(MYO6):c.1156C>T (p.Leu386Phe)
|
|
|
NM_004999.4(MYO6):c.1161A>G (p.Arg387=)
|
|
|
NM_004999.4(MYO6):c.117+11C>T
|
|
|
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
|
|
|
NM_004999.4(MYO6):c.1223+16A>T
|
rs974546034
|
|
NM_004999.4(MYO6):c.1283A>G (p.Tyr428Cys)
|
|
|
NM_004999.4(MYO6):c.1291C>T (p.Leu431Phe)
|
|
|
NM_004999.4(MYO6):c.1383_1385del (p.Glu461_Tyr462delinsAsp)
|
|
|
NM_004999.4(MYO6):c.1397A>T (p.Asn466Ile)
|
|
|
NM_004999.4(MYO6):c.1442A>C (p.Gln481Pro)
|
|
|
NM_004999.4(MYO6):c.1447T>A (p.Phe483Ile)
|
|
|
NM_004999.4(MYO6):c.1452_1453insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTCTTCAACAATTTTTT (p.Asn485delinsPhePhePhePhePhePheXaaXaaXaaXaaGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluSerSerThrIlePheTer)
|
|
|
NM_004999.4(MYO6):c.1474-12T>C
|
|
|
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu)
|
rs1554211583
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_004999.4(MYO6):c.1627T>C (p.Phe543Leu)
|
|
|
NM_004999.4(MYO6):c.1675-18A>G
|
|
|
NM_004999.4(MYO6):c.1747G>A (p.Ala583Thr)
|
|
|
NM_004999.4(MYO6):c.1749G>A (p.Ala583=)
|
|
|
NM_004999.4(MYO6):c.1749G>T (p.Ala583=)
|
|
|
NM_004999.4(MYO6):c.1770+3G>A
|
|
|
NM_004999.4(MYO6):c.1785G>T (p.Glu595Asp)
|
|
|
NM_004999.4(MYO6):c.1852C>T (p.Arg618Trp)
|
|
|
NM_004999.4(MYO6):c.1866A>G (p.Glu622=)
|
|
|
NM_004999.4(MYO6):c.1867T>G (p.Ser623Ala)
|
|
|
NM_004999.4(MYO6):c.188-19T>G
|
|
|
NM_004999.4(MYO6):c.1885A>G (p.Lys629Glu)
|
|
|
NM_004999.4(MYO6):c.1944+18T>G
|
|
|
NM_004999.4(MYO6):c.1944+27dup
|
rs754309380
|
|
NM_004999.4(MYO6):c.1944+7G>A
|
|
|
NM_004999.4(MYO6):c.1944+7G>T
|
rs1265157032
|
|
NM_004999.4(MYO6):c.1983+1G>A
|
rs2149321922
|
|
NM_004999.4(MYO6):c.1984-5C>T
|
|
|
NM_004999.4(MYO6):c.1992C>T (p.Ser664=)
|
|
|
NM_004999.4(MYO6):c.2078-20G>T
|
|
|
NM_004999.4(MYO6):c.2078-2A>G
|
rs1777874560
|
|
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile)
|
rs975737464
|
|
NM_004999.4(MYO6):c.2117dup (p.Ser707fs)
|
|
|
NM_004999.4(MYO6):c.2149A>G (p.Met717Val)
|
rs2149343586
|
|
NM_004999.4(MYO6):c.2159A>T (p.Lys720Met)
|
|
|
NM_004999.4(MYO6):c.2164A>G (p.Met722Val)
|
rs2149343655
|
|
NM_004999.4(MYO6):c.2183G>A (p.Arg728Lys)
|
|
|
NM_004999.4(MYO6):c.2209-2_2212del
|
|
|
NM_004999.4(MYO6):c.2218A>G (p.Lys740Glu)
|
rs2149343921
|
|
NM_004999.4(MYO6):c.222C>G (p.Leu74=)
|
|
|
NM_004999.4(MYO6):c.222C>T (p.Leu74=)
|
rs1395892527
|
|
NM_004999.4(MYO6):c.2240dup (p.Asn747fs)
|
|
|
NM_004999.4(MYO6):c.2253T>G (p.Phe751Leu)
|
|
|
NM_004999.4(MYO6):c.2274T>G (p.Phe758Leu)
|
|
|
NM_004999.4(MYO6):c.2287-9A>G
|
|
|
NM_004999.4(MYO6):c.2307C>G (p.Ile769Met)
|
|
|
NM_004999.4(MYO6):c.2366C>T (p.Thr789Ile)
|
|
|
NM_004999.4(MYO6):c.2374C>T (p.Arg792Cys)
|
|
|
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
|
|
|
NM_004999.4(MYO6):c.2417-7C>T
|
|
|
NM_004999.4(MYO6):c.2430A>G (p.Ile810Met)
|
rs1354902174
|
|
NM_004999.4(MYO6):c.2473C>T (p.Arg825Ter)
|
|
|
NM_004999.4(MYO6):c.2507+12A>G
|
rs1214613190
|
|
NM_004999.4(MYO6):c.2507+19A>G
|
|
|
NM_004999.4(MYO6):c.2508-19T>C
|
|
|
NM_004999.4(MYO6):c.2544dup (p.Arg849fs)
|
|
|
NM_004999.4(MYO6):c.2560A>G (p.Asn854Asp)
|
rs2149358961
|
|
NM_004999.4(MYO6):c.2566G>T (p.Val856Leu)
|
|
|
NM_004999.4(MYO6):c.256del (p.Ile86fs)
|
|
|
NM_004999.4(MYO6):c.2571_2574del (p.Ser858fs)
|
rs2149359004
|
|
NM_004999.4(MYO6):c.264A>G (p.Thr88=)
|
|
|
NM_004999.4(MYO6):c.2692del (p.Glu898fs)
|
|
|
NM_004999.4(MYO6):c.2696A>G (p.Tyr899Cys)
|
|
|
NM_004999.4(MYO6):c.2726_2727delinsAA (p.Leu909Gln)
|
rs2149367706
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)
|
|
|
NM_004999.4(MYO6):c.2762A>G (p.Glu921Gly)
|
|
|
NM_004999.4(MYO6):c.2795A>G (p.Glu932Gly)
|
|
|
NM_004999.4(MYO6):c.2800G>T (p.Glu934Ter)
|
|
|
NM_004999.4(MYO6):c.2804A>G (p.Lys935Arg)
|
|
|
NM_004999.4(MYO6):c.2810G>T (p.Arg937Ile)
|
|
|
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs)
|
rs876657709
|
|
NM_004999.4(MYO6):c.2857G>A (p.Glu953Lys)
|
|
|
NM_004999.4(MYO6):c.2872C>G (p.Leu958Val)
|
|
|
NM_004999.4(MYO6):c.2881G>A (p.Glu961Lys)
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_004999.4(MYO6):c.2906A>G (p.Glu969Gly)
|
|
|
NM_004999.4(MYO6):c.2937A>C (p.Lys979Asn)
|
|
|
NM_004999.4(MYO6):c.2938C>T (p.Arg980Cys)
|
|
|
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
|
|
|
NM_004999.4(MYO6):c.2946+16G>T
|
|
|
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)
|
rs529167250
|
|
NM_004999.4(MYO6):c.3005T>A (p.Val1002Asp)
|
|
|
NM_004999.4(MYO6):c.3017A>T (p.Glu1006Val)
|
rs1321745586
|
|
NM_004999.4(MYO6):c.3040dup (p.Leu1014fs)
|
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NM_004999.4(MYO6):c.3076G>C (p.Asp1026His)
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NM_004999.4(MYO6):c.3099G>T (p.Ala1033=)
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NM_004999.4(MYO6):c.3103C>A (p.Arg1035=)
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rs551471138
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NM_004999.4(MYO6):c.3103C>T (p.Arg1035Trp)
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NM_004999.4(MYO6):c.3107+19G>A
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rs538399704
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NM_004999.4(MYO6):c.3107+19G>T
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NM_004999.4(MYO6):c.3137+1G>A
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rs200713129
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NM_004999.4(MYO6):c.3138-4G>A
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NM_004999.4(MYO6):c.3176+14A>C
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NM_004999.4(MYO6):c.3177-15G>A
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NM_004999.4(MYO6):c.3177-3C>T
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rs747051401
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NM_004999.4(MYO6):c.3197C>T (p.Thr1066Ile)
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rs1312339926
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NM_004999.4(MYO6):c.3200A>C (p.Lys1067Thr)
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NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
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NM_004999.4(MYO6):c.3256_3257dup (p.Asp1087fs)
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rs2149415255
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NM_004999.4(MYO6):c.3278G>A (p.Cys1093Tyr)
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NM_004999.4(MYO6):c.3280+3_3280+6del
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NM_004999.4(MYO6):c.3281-18G>A
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NM_004999.4(MYO6):c.3281-18G>T
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rs75371739
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NM_004999.4(MYO6):c.3288G>A (p.Glu1096=)
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NM_004999.4(MYO6):c.3301T>G (p.Cys1101Gly)
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NM_004999.4(MYO6):c.3321G>A (p.Arg1107=)
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NM_004999.4(MYO6):c.3376del (p.Thr1126fs)
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NM_004999.4(MYO6):c.3412+8G>C
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NM_004999.4(MYO6):c.3413-20C>T
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NM_004999.4(MYO6):c.3439+14T>G
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NM_004999.4(MYO6):c.3520C>T (p.Pro1174Ser)
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NM_004999.4(MYO6):c.3531C>T (p.Arg1177=)
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NM_004999.4(MYO6):c.3567A>G (p.Lys1189=)
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NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)
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NM_004999.4(MYO6):c.3607G>T (p.Ala1203Ser)
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NM_004999.4(MYO6):c.3631G>A (p.Asp1211Asn)
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NM_004999.4(MYO6):c.3659-5T>C
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NM_004999.4(MYO6):c.3715A>T (p.Lys1239Ter)
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NM_004999.4(MYO6):c.3718_3719del (p.Arg1240fs)
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rs1781031440
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NM_004999.4(MYO6):c.3723T>C (p.Gly1241=)
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NM_004999.4(MYO6):c.3742C>G (p.Gln1248Glu)
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NM_004999.4(MYO6):c.3762A>G (p.Glu1254=)
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NM_004999.4(MYO6):c.3822C>A (p.Thr1274=)
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NM_004999.4(MYO6):c.3840G>A (p.Leu1280=)
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rs1257266201
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NM_004999.4(MYO6):c.3851dup (p.Leu1284fs)
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NM_004999.4(MYO6):c.392-20A>G
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NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)
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NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)
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NM_004999.4(MYO6):c.522A>G (p.Thr174=)
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NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)
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NM_004999.4(MYO6):c.553+17A>G
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NM_004999.4(MYO6):c.554-1G>A
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NM_004999.4(MYO6):c.554-4A>G
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NM_004999.4(MYO6):c.584C>A (p.Ala195Glu)
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rs772421255
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NM_004999.4(MYO6):c.614G>A (p.Arg205Gln)
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rs2150250121
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NM_004999.4(MYO6):c.652-9G>T
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NM_004999.4(MYO6):c.667G>A (p.Gly223Arg)
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NM_004999.4(MYO6):c.728G>T (p.Arg243Ile)
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NM_004999.4(MYO6):c.737A>G (p.His246Arg)
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rs121912560
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NM_004999.4(MYO6):c.817-1G>A
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rs1057523846
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NM_004999.4(MYO6):c.853A>G (p.Lys285Glu)
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NM_004999.4(MYO6):c.854_855del (p.Lys285fs)
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NM_004999.4(MYO6):c.866_869del (p.Lys289fs)
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rs749752357
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NM_004999.4(MYO6):c.884G>A (p.Arg295His)
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NM_004999.4(MYO6):c.897+19C>G
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NM_004999.4(MYO6):c.922G>C (p.Asp308His)
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rs764615017
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NM_004999.4(MYO6):c.926C>G (p.Pro309Arg)
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NM_004999.4(MYO6):c.933A>G (p.Leu311=)
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