NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
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.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
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.1227-2A>G
|
rs730880531
|
0.00001
|
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln)
|
rs776734314
|
0.00001
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.406+1G>A
|
rs1223603416
|
0.00001
|
NM_000256.3(MYBPC3):c.926+1G>A
|
rs767239679
|
0.00001
|
NC_000011.9:g.(?_47358756)_47367811del
|
|
|
NC_000011.9:g.(?_47362467)_(47362574_?)del
|
|
|
NC_000011.9:g.(?_47362544)_(47368616_?)del
|
|
|
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
|
|
|
NM_000256.3(MYBPC3):c.1090+453C>T
|
rs2095893477
|
|
NM_000256.3(MYBPC3):c.1091-2A>G
|
rs2142862326
|
|
NM_000256.3(MYBPC3):c.1133_1226+6delinsA
|
rs2142861940
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1227-1G>A
|
|
|
NM_000256.3(MYBPC3):c.1227-1G>T
|
rs113276889
|
|
NM_000256.3(MYBPC3):c.1227-39_1263del
|
|
|
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)
|
rs727504279
|
|
NM_000256.3(MYBPC3):c.1352-1G>A
|
|
|
NM_000256.3(MYBPC3):c.1352-2_1355del
|
rs2095890510
|
|
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs)
|
rs1565628078
|
|
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
|
rs1595846344
|
|
NM_000256.3(MYBPC3):c.1449_1457+4del
|
rs2142861325
|
|
NM_000256.3(MYBPC3):c.1457+5G>C
|
rs727503202
|
|
NM_000256.3(MYBPC3):c.1457_1457+1delinsCT
|
|
|
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.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer)
|
rs1565627566
|
|
NM_000256.3(MYBPC3):c.1791-2del
|
|
|
NM_000256.3(MYBPC3):c.2068-2A>G
|
|
|
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs)
|
rs1595844714
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys)
|
rs1464769206
|
|
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter)
|
rs1565625795
|
|
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp)
|
rs1595844241
|
|
NM_000256.3(MYBPC3):c.2291_2308+3del
|
|
|
NM_000256.3(MYBPC3):c.2302_2308+22del
|
|
|
NM_000256.3(MYBPC3):c.2308G>C (p.Asp770His)
|
rs36211723
|
|
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)
|
rs187830361
|
|
NM_000256.3(MYBPC3):c.2414-1G>A
|
rs863224899
|
|
NM_000256.3(MYBPC3):c.2414-2A>G
|
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
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.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)
|
rs397515972
|
|
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2603-1G>A
|
rs977277400
|
|
NM_000256.3(MYBPC3):c.2603-1G>C
|
rs977277400
|
|
NM_000256.3(MYBPC3):c.2603-1G>T
|
|
|
NM_000256.3(MYBPC3):c.2603-2A>G
|
rs1419155559
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter)
|
rs190765116
|
|
NM_000256.3(MYBPC3):c.2731_2737+19del
|
rs2095881691
|
|
NM_000256.3(MYBPC3):c.2737+1G>A
|
rs727504314
|
|
NM_000256.3(MYBPC3):c.2737+2_2737+3del
|
rs1265248322
|
|
NM_000256.3(MYBPC3):c.2738-2A>T
|
rs1595842632
|
|
NM_000256.3(MYBPC3):c.2906-1G>A
|
rs1409755826
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.292+1G>A
|
rs1433492944
|
|
NM_000256.3(MYBPC3):c.292+1del
|
rs2142869314
|
|
NM_000256.3(MYBPC3):c.293-174_307del
|
|
|
NM_000256.3(MYBPC3):c.293-1G>C
|
|
|
NM_000256.3(MYBPC3):c.2994+1G>A
|
rs2095879885
|
|
NM_000256.3(MYBPC3):c.2994+1del
|
rs2095879886
|
|
NM_000256.3(MYBPC3):c.2995-58_3151delinsTACCAGGCC
|
|
|
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
|
rs2095879705
|
|
NM_000256.3(MYBPC3):c.3182_3190+4del
|
rs730880718
|
|
NM_000256.3(MYBPC3):c.3191-11_3193del
|
rs1565623216
|
|
NM_000256.3(MYBPC3):c.3191-1G>A
|
rs2095879167
|
|
NM_000256.3(MYBPC3):c.3191-1G>C
|
rs2095879167
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3331-1G>A
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3331-1G>C
|
rs727504305
|
|
NM_000256.3(MYBPC3):c.3331-26T>G
|
rs2142850484
|
|
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.342_343del (p.Gly115fs)
|
rs1565631381
|
|
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter)
|
rs727503220
|
|
NM_000256.3(MYBPC3):c.3491-3C>G
|
rs730880592
|
|
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)
|
rs1565622703
|
|
NM_000256.3(MYBPC3):c.3593_3627+20del
|
|
|
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)
|
rs727503170
|
|
NM_000256.3(MYBPC3):c.3627+2T>C
|
rs1299079662
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)
|
rs730880702
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His)
|
rs730880601
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.3815-2A>G
|
|
|
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)
|
rs727504380
|
|
NM_000256.3(MYBPC3):c.407-1G>A
|
rs185449721
|
|
NM_000256.3(MYBPC3):c.407-2A>G
|
|
|
NM_000256.3(MYBPC3):c.505+1G>A
|
rs730880620
|
|
NM_000256.3(MYBPC3):c.505+1G>C
|
|
|
NM_000256.3(MYBPC3):c.505+1G>T
|
|
|
NM_000256.3(MYBPC3):c.505+5G>C
|
rs727503219
|
|
NM_000256.3(MYBPC3):c.505_505+7del
|
rs1555123473
|
|
NM_000256.3(MYBPC3):c.506-13_585delinsATT
|
|
|
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)
|
rs1595850762
|
|
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter)
|
rs1595849603
|
|
NM_000256.3(MYBPC3):c.654+1G>A
|
rs730880621
|
|
NM_000256.3(MYBPC3):c.654+2T>C
|
rs2142867623
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.772+2T>C
|
|
|
NM_000256.3(MYBPC3):c.773-2A>T
|
rs1595848628
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.852-1G>T
|
rs368121566
|
|
NM_000256.3(MYBPC3):c.852-2A>C
|
|
|
NM_000256.3(MYBPC3):c.852-2A>G
|
rs1565629792
|
|
NM_000256.3(MYBPC3):c.905+1G>A
|
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
NM_000256.3(MYBPC3):c.926+1G>C
|
rs767239679
|
|
NM_000256.3(MYBPC3):c.926+2T>C
|
rs1595847941
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000256.3(MYBPC3):c.927-1G>C
|
rs2095894178
|
|
NM_000256.3(MYBPC3):c.927_928delGG
|
rs886037902
|
|
NM_000256.3(MYBPC3):c.933_1090+396del
|
|
|