NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)
|
rs769167548
|
0.00009
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
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.1831G>A (p.Glu611Lys)
|
rs730880555
|
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.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
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.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
|
rs730880138
|
0.00003
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)
|
rs397515884
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
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.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly)
|
rs730880140
|
0.00001
|
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)
|
rs397516010
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)
|
rs727503171
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.406+1G>A
|
rs1223603416
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
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.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1091-1G>A
|
rs730880143
|
|
NM_000256.3(MYBPC3):c.1091-2A>G
|
rs2142862326
|
|
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer)
|
rs1565628520
|
|
NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs)
|
|
|
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs)
|
rs2095891398
|
|
NM_000256.3(MYBPC3):c.1133_1226+6delinsA
|
rs2142861940
|
|
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)
|
rs869025465
|
|
NM_000256.3(MYBPC3):c.1168del (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.1168dup (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)
|
rs727503207
|
|
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs)
|
rs1248588905
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter)
|
rs1114167419
|
|
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.1280C>A (p.Ser427Ter)
|
|
|
NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter)
|
|
|
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)
|
rs727504279
|
|
NM_000256.3(MYBPC3):c.1351+1G>A
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1351+2T>G
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1352-1G>A
|
|
|
NM_000256.3(MYBPC3):c.1352-2_1355del
|
rs2095890510
|
|
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser)
|
rs749310275
|
|
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs)
|
rs2095890455
|
|
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs)
|
rs1565628078
|
|
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)
|
rs886037900
|
|
NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter)
|
rs2095890370
|
|
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.1457_1457+25delinsC
|
|
|
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer)
|
rs869025462
|
|
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.1484G>T (p.Arg495Leu)
|
rs200411226
|
|
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs)
|
rs587782957
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1526_1527del (p.Arg509fs)
|
rs2142861049
|
|
NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs)
|
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)
|
|
|
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)
|
rs2142860830
|
|
NM_000256.3(MYBPC3):c.1624+1G>C
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1625-1G>A
|
rs869025466
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)
|
rs730880644
|
|
NM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer)
|
rs1565627566
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.1791-2del
|
|
|
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs)
|
rs730880648
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys)
|
rs727503194
|
|
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs)
|
rs1565627145
|
|
NM_000256.3(MYBPC3):c.1877C>G (p.Ser626Ter)
|
|
|
NM_000256.3(MYBPC3):c.1927+1G>T
|
rs2142859053
|
|
NM_000256.3(MYBPC3):c.1927+2T>C
|
rs869025467
|
|
NM_000256.3(MYBPC3):c.1927+600C>T
|
rs1595845204
|
|
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)
|
rs397515938
|
|
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly)
|
rs397515939
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs)
|
rs1565626367
|
|
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)
|
rs863224483
|
|
NM_000256.3(MYBPC3):c.2067+2del
|
|
|
NM_000256.3(MYBPC3):c.2068-1G>A
|
rs2142857371
|
|
NM_000256.3(MYBPC3):c.2068-2A>G
|
|
|
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs)
|
rs1595844714
|
|
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs)
|
rs869025460
|
|
NM_000256.3(MYBPC3):c.2148+1G>A
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2149-2A>C
|
rs2142856729
|
|
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)
|
rs730880362
|
|
NM_000256.3(MYBPC3):c.221C>TT
|
rs1555123743
|
|
NM_000256.3(MYBPC3):c.2240del (p.Gly747fs)
|
|
|
NM_000256.3(MYBPC3):c.2243dup (p.Tyr749fs)
|
rs2142856598
|
|
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys)
|
rs1464769206
|
|
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs)
|
rs863225111
|
|
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.2294_2295del (p.Thr765fs)
|
rs2142856521
|
|
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter)
|
rs869025459
|
|
NM_000256.3(MYBPC3):c.2302_2308+22del
|
|
|
NM_000256.3(MYBPC3):c.2308G>C (p.Asp770His)
|
rs36211723
|
|
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)
|
rs863225106
|
|
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)
|
rs187830361
|
|
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)
|
rs863225112
|
|
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)
|
rs730880341
|
|
NM_000256.3(MYBPC3):c.2414-1G>A
|
rs863224899
|
|
NM_000256.3(MYBPC3):c.2414-2A>G
|
|
|
NM_000256.3(MYBPC3):c.241_244del (p.Val81fs)
|
rs2142869406
|
|
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
|
rs375675796
|
|
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)
|
rs1338707268
|
|
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.2449del (p.Arg817fs)
|
|
|
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)
|
rs1419032418
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)
|
rs2856655
|
|
NM_000256.3(MYBPC3):c.2476del (p.Ile826fs)
|
rs2095883614
|
|
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)
|
rs397515972
|
|
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)
|
rs730880654
|
|
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2542del (p.Ala848fs)
|
|
|
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)
|
rs863225105
|
|
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs)
|
rs2095883336
|
|
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)
|
rs1595843553
|
|
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs)
|
rs2142855105
|
|
NM_000256.3(MYBPC3):c.26-1G>T
|
|
|
NM_000256.3(MYBPC3):c.2602+1G>A
|
|
|
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.2670dup (p.Arg891fs)
|
rs863225104
|
|
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)
|
rs2095881732
|
|
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.2767del (p.Gly922_Leu923insTer)
|
rs2142853009
|
|
NM_000256.3(MYBPC3):c.2871del (p.Thr958fs)
|
rs2095880923
|
|
NM_000256.3(MYBPC3):c.2905+1G>T
|
|
|
NM_000256.3(MYBPC3):c.2905+5G>T
|
rs193922381
|
|
NM_000256.3(MYBPC3):c.2906-1G>A
|
rs1409755826
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.2906_2994del
|
|
|
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs)
|
rs1565623713
|
|
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.2995-2_2995-1del
|
rs2142851672
|
|
NM_000256.3(MYBPC3):c.2995-58_3151delinsTACCAGGCC
|
|
|
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)
|
rs1565631430
|
|
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
|
rs2095879705
|
|
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter)
|
|
|
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)
|
rs869025468
|
|
NM_000256.3(MYBPC3):c.306del (p.Met103fs)
|
rs863225109
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs)
|
rs1565623439
|
|
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)
|
rs869025461
|
|
NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs)
|
rs760491068
|
|
NM_000256.3(MYBPC3):c.3182_3190+4del
|
rs730880718
|
|
NM_000256.3(MYBPC3):c.3184del (p.Val1062fs)
|
rs1595841736
|
|
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.3227_3233del (p.Asp1076fs)
|
|
|
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)
|
rs866966651
|
|
NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs)
|
|
|
NM_000256.3(MYBPC3):c.3268del (p.Gln1090fs)
|
rs2095879053
|
|
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)
|
rs863225113
|
|
NM_000256.3(MYBPC3):c.3330+2T>A
|
rs387906397
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
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.333dup (p.Glu112Ter)
|
rs730880335
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3412del (p.Arg1138fs)
|
rs2095878612
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs)
|
rs863225114
|
|
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.3471del (p.Val1158fs)
|
|
|
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)
|
rs727504321
|
|
NM_000256.3(MYBPC3):c.3491-3C>G
|
rs730880592
|
|
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)
|
rs1565622703
|
|
NM_000256.3(MYBPC3):c.357del (p.Ala120fs)
|
rs869025463
|
|
NM_000256.3(MYBPC3):c.3593_3627+20del
|
|
|
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
|
rs397516028
|
|
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)
|
rs727504271
|
|
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)
|
rs727503170
|
|
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs)
|
rs2095878223
|
|
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3627+2T>C
|
rs1299079662
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)
|
rs863225107
|
|
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter)
|
rs397516035
|
|
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)
|
rs730880702
|
|
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
|
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.3747_3748insGG (p.Ile1250fs)
|
|
|
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His)
|
rs730880601
|
|
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs)
|
rs2095877711
|
|
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs)
|
rs2095877700
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs)
|
rs2142849245
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3814+2T>C
|
rs869025470
|
|
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.441_442del (p.Gly148fs)
|
rs869025464
|
|
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)
|
rs730880677
|
|
NM_000256.3(MYBPC3):c.482C>G (p.Pro161Arg)
|
|
|
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+1dup
|
|
|
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.506-1G>A
|
rs397516056
|
|
NM_000256.3(MYBPC3):c.519del (p.Phe174fs)
|
rs1595849742
|
|
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)
|
rs1595850762
|
|
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
|
rs375607980
|
|
NM_000256.3(MYBPC3):c.560del (p.Pro187fs)
|
|
|
NM_000256.3(MYBPC3):c.605del (p.Lys202fs)
|
rs2095898456
|
|
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.655-2A>G
|
rs1219818351
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)
|
rs774316050
|
|
NM_000256.3(MYBPC3):c.772+2T>C
|
|
|
NM_000256.3(MYBPC3):c.773-1G>C
|
rs2142865708
|
|
NM_000256.3(MYBPC3):c.773-2A>T
|
rs1595848628
|
|
NM_000256.3(MYBPC3):c.773-7_773dup
|
|
|
NM_000256.3(MYBPC3):c.815del (p.Arg272fs)
|
|
|
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.86del (p.Phe29fs)
|
rs2142869802
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000256.3(MYBPC3):c.897del (p.Lys301fs)
|
rs1555122928
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000256.3(MYBPC3):c.905+1G>A
|
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
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
|
|
|
NM_000256.3(MYBPC3):c.93del (p.Glu32fs)
|
|
|
NM_000256.3:c.2855_3518del
|
|
|
NM_000256.3:c.2956_3519del
|
|
|