NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)
|
rs869025546
|
0.00003
|
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)
|
rs121913647
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly)
|
rs397515939
|
|
NM_000257.4(MYH7):c.1888+1G>A
|
rs113186231
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)
|
rs869025483
|
|
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter)
|
rs770029258
|
|
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs)
|
rs730880246
|
|
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)
|
rs751039219
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
NM_001267550.2(TTN):c.45896-2A>G
|
rs869025548
|
|
NM_001267550.2(TTN):c.48863del (p.Pro16288fs)
|
rs794729320
|
|
NM_001267550.2(TTN):c.49813del (p.Val16605fs)
|
rs730880245
|
|
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs)
|
rs869025552
|
|
NM_001267550.2(TTN):c.65576-2A>G
|
rs869025549
|
|
NM_001267550.2(TTN):c.67637-2A>G
|
rs869025550
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
NM_001267550.2(TTN):c.69639dup (p.Val23214fs)
|
rs869025557
|
|
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter)
|
rs730880241
|
|
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter)
|
rs730880242
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.75314dup (p.Val25106fs)
|
rs869025558
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)
|
rs869025559
|
|
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter)
|
rs730880243
|
|
NM_001267550.2(TTN):c.87849del (p.Leu29283fs)
|
rs869025554
|
|
NM_001267550.2(TTN):c.94249del (p.Val31417fs)
|
rs869025555
|
|
NM_001267550.2(TTN):c.95966del (p.Asn31989fs)
|
rs72648265
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter)
|
rs730880055
|
|
NM_004281.4(BAG3):c.909+1G>A
|
rs869025365
|
|
NM_004415.2(DSP):c.2131_2132del
|
rs587782927
|
|
NM_004415.4(DSP):c.1140+2T>G
|
rs869025398
|
|
NM_004415.4(DSP):c.5725del (p.Ile1909fs)
|
rs869025399
|
|
NM_004415.4(DSP):c.6393del (p.Gly2133fs)
|
rs730880093
|
|
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)
|
rs794728597
|
|
NM_170707.4(LMNA):c.859del (p.Ala287fs)
|
rs59564495
|
|