NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)
|
rs199998420
|
0.00081
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
0.00036
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)
|
rs145266970
|
0.00014
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser)
|
rs201431768
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_007078.3(LDB3):c.1963C>A (p.Pro655Thr)
|
rs745444678
|
0.00003
|
NM_007078.3(LDB3):c.66C>A (p.Asp22Glu)
|
rs1261515174
|
0.00003
|
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)
|
rs141276802
|
0.00003
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
NM_000363.5(TNNI3):c.24+2T>A
|
rs777702465
|
0.00001
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
NM_001267550.2(TTN):c.25064-4A>G
|
rs747247583
|
0.00001
|
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)
|
rs762577093
|
0.00001
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
0.00001
|
NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr)
|
rs1578374324
|
0.00001
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
NM_144573.4(NEXN):c.1619T>C (p.Met540Thr)
|
rs531641059
|
0.00001
|
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)
|
rs1595843553
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter)
|
rs1595074652
|
|
NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu)
|
rs1595070373
|
|
NM_000257.4(MYH7):c.644C>T (p.Thr215Ile)
|
rs1892948780
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)
|
rs1599907512
|
|
NM_001005242.3(PKP2):c.1584del (p.Arg529fs)
|
rs1592738654
|
|
NM_001018005.2(TPM1):c.340G>C (p.Glu114Gln)
|
rs1596361271
|
|
NM_001077653.2(TBX20):c.208G>A (p.Gly70Ser)
|
rs1584359977
|
|
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)
|
rs1590673852
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
NM_001267550.2(TTN):c.39709+1G>T
|
rs1576940155
|
|
NM_001267550.2(TTN):c.68329+2_68329+3insTT
|
rs536078303
|
|
NM_001267550.2(TTN):c.85891del (p.Ala28631fs)
|
rs1575610911
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile)
|
rs1571590208
|
|
NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp)
|
rs1196386664
|
|
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)
|
rs745457570
|
|
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile)
|
rs1578264552
|
|
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
|
rs750526692
|
|
NM_004281.4(BAG3):c.612del (p.Tyr205fs)
|
rs2134065084
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004415.4(DSP):c.2200del (p.Arg734fs)
|
rs2113683177
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup)
|
rs1175436231
|
|
NM_007078.3(LDB3):c.1792T>C (p.Cys598Arg)
|
rs1589676793
|
|
NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp)
|
rs1569732779
|
|
NM_032578.4(MYPN):c.970C>T (p.His324Tyr)
|
rs1589550119
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_170707.4(LMNA):c.986G>C (p.Arg329Pro)
|
rs397517913
|
|
arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2)
|
|
|