NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|