NM_005677.3(COLQ):c.-136G>C
|
rs9836565
|
0.20379
|
NM_000334.4(SCN4A):c.*1677_*1678insAT
|
rs397797581
|
0.01652
|
NM_005677.3(COLQ):c.-96C>T
|
rs151131743
|
0.00238
|
NM_005677.3(COLQ):c.-121G>A
|
rs113510832
|
0.00076
|
NM_005055.4(RAPSN):c.-202C>T
|
rs886048390
|
0.00016
|
NM_001244710.2(GFPT1):c.2056-10del
|
rs372477414
|
0.00015
|
NM_005055.4(RAPSN):c.-190A>G
|
rs757221861
|
0.00013
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_005055.4(RAPSN):c.*216A>G
|
rs886048384
|
0.00007
|
NM_000334.4(SCN4A):c.*670T>G
|
rs148552329
|
0.00003
|
NM_001244710.2(GFPT1):c.*5354G>A
|
rs113138427
|
0.00003
|
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)
|
rs545915312
|
0.00003
|
NM_005677.3(COLQ):c.-122C>T
|
rs886058114
|
0.00001
|
NM_000334.4(SCN4A):c.*1205C>G
|
rs886053241
|
|
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3]
|
rs112489358
|
|
NM_000334.4(SCN4A):c.*1679TG[7]
|
rs66908473
|
|
NM_001244710.2(GFPT1):c.*1974CA[8]
|
rs751417979
|
|
NM_001244710.2(GFPT1):c.*2510del
|
rs370178312
|
|
NM_001244710.2(GFPT1):c.*3805del
|
rs35829957
|
|
NM_001244710.2(GFPT1):c.*3987_*3989del
|
rs141942218
|
|
NM_001244710.2(GFPT1):c.*5195_*5199delinsTGTCTTTTTTATA
|
rs886056235
|
|
NM_001244710.2(GFPT1):c.*5288TC[9]
|
rs747325928
|
|
NM_001244710.2(GFPT1):c.*5401dup
|
rs879750913
|
|
NM_001244710.2(GFPT1):c.*5901del
|
rs886056231
|
|
NM_001244710.2(GFPT1):c.1324+13del
|
rs113734896
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-12_2056-11del
|
rs201268947
|
|
NM_005055.5(RAPSN):c.-73_-72insAT
|
rs759559668
|
|
NM_005055.5(RAPSN):c.691-11del
|
rs34729771
|
|
NM_005592.4(MUSK):c.1927+9dup
|
rs555725730
|
|
NM_005677.3(COLQ):c.-120_-119CA[9]
|
rs746566925
|
|
NM_005677.3(COLQ):c.-121_-120insCGCA
|
rs886058112
|
|
NM_005677.3(COLQ):c.-121delGinsACACACGCA
|
rs886058113
|
|
NM_005677.3(COLQ):c.-122_-121delCG
|
rs530131087
|
|
NM_005677.3(COLQ):c.-122_-121dup
|
rs530131087
|
|
NM_005677.3(COLQ):c.-124_-121delCACG
|
rs886058111
|
|
NM_005677.3(COLQ):c.-136_-135delGA
|
rs201205850
|
|