|
NM_015602.4(TOR1AIP1):c.554-4G>A
|
rs2245425
|
0.58997
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
|
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)
|
rs201518227
|
0.00006
|
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
|
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)
|
rs372121045
|
0.00002
|
|
NM_005198.5(CHKB):c.224+5G>C
|
rs765251030
|
0.00002
|
|
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)
|
rs781565158
|
0.00002
|
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
|
NC_000023.11:g.64951692_65166933del
|
|
|
|
NC_012920.1(MT-ND1):m.3502T>C
|
rs1603218987
|
|
|
NC_012920.1(MT-TK):m.8344A>G
|
rs118192098
|
|
|
NC_012920.1(MT-TL1):m.3243A>G
|
rs199474657
|
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
|
NM_000183.3(HADHB):c.1059del (p.Gly354fs)
|
rs796051974
|
|
|
NM_000183.3(HADHB):c.1390-515_1390-499del
|
|
|
|
NM_000426.4(LAMA2):c.3694C>G (p.Pro1232Ala)
|
rs201391981
|
|
|
NM_000540.3(RYR1):c.14766C>A (p.Phe4922Leu)
|
rs1599674487
|
|
|
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
|
|
|
|
NM_001159699.2(FHL1):c.785_793dup (p.Tyr264_Cys265insTyrAspTyr)
|
rs1603273609
|
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
|
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)
|
rs1569518070
|
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
|
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)
|
rs1553603732
|
|
|
NM_002226.5(JAG2):c.2561_2569del (p.Pro854_Gly856del)
|
|
|
|
NM_002226.5(JAG2):c.860G>A (p.Cys287Tyr)
|
|
|
|
NM_004006.3(DMD):c.9564-30A>G
|
|
|
|
NM_004006.3(DMD):c.9974+175T>A
|
rs1602451773
|
|
|
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)
|
rs1597981046
|
|
|
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
|
|
|
|
NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs)
|
rs1565930588
|
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
|
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)
|
rs1208636573
|
|
|
NM_018684.4(ZC4H2):c.53+10513C>T
|
rs1931569117
|
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
|
NM_024301.5(FKRP):c.-272G>A
|
rs1555735545
|
|
|
NM_133642.5(LARGE1):c.106+1218_106+5708del
|
|
|
|
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)
|
rs368751524
|
|
|
NM_170707.4(LMNA):c.937-22_937-10del
|
rs886043199
|
|
|
Single allele
|
|
|