NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
NM_001267550.2(TTN):c.160G>A (p.Val54Met)
|
rs139517732
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg)
|
rs1018591024
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)
|
rs267607158
|
|
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)
|
rs28933405
|
|
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)
|
rs267607157
|
|
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)
|
rs267607155
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs)
|
rs2154172276
|
|
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)
|
rs587777675
|
|
NM_005876.5(SPEG):c.3709_3715+29del
|
rs587777674
|
|
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)
|
rs587777673
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)
|
rs587777676
|
|
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)
|
rs121909273
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)
|
rs121909274
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|