rs1290836394
|
|
1.000 |
0.120 |
19 |
46755605 |
frameshift variant
|
-/TGCGG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
|
0 |
|
|
rs886042506
|
|
0.925 |
0.160 |
19 |
46755610 |
frameshift variant
|
-/GGAG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
2 |
2001 |
2008 |
rs28937905
|
|
1.000 |
0.120 |
19 |
46755610 |
missense variant
|
C/G;T
|
snv
|
8.6E-06;
4.3E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
1 |
2001 |
2018 |
rs886042506
|
|
0.925 |
0.160 |
19 |
46755610 |
frameshift variant
|
-/GGAG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1555738149
|
|
1.000 |
0.120 |
19 |
46755617 |
frameshift variant
|
-/AGGCATTTGACAACGCG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1555738201
|
|
1.000 |
0.120 |
19 |
46755664 |
stop gained
|
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1555738204
|
|
1.000 |
0.120 |
19 |
46755671 |
frameshift variant
|
-/AGCCC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs770711331
|
|
0.925 |
0.160 |
19 |
46755716 |
missense variant
|
C/T
|
snv
|
1.5E-05
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
6 |
2005 |
2009 |
rs770711331
|
|
0.925 |
0.160 |
19 |
46755716 |
missense variant
|
C/T
|
snv
|
1.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs1555738245
|
|
1.000 |
0.120 |
19 |
46755717 |
frameshift variant
|
G/AT
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1555738311
|
|
1.000 |
0.120 |
19 |
46755794 |
frameshift variant
|
GCGCC/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs587777823
|
|
1.000 |
0.120 |
19 |
46755835 |
frameshift variant
|
-/ACCT
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs886041004
|
|
1.000 |
|
19 |
46755851 |
frameshift variant
|
GG/-
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
0.700 |
|
0 |
|
|
rs1555738456
|
|
1.000 |
0.120 |
19 |
46755914 |
frameshift variant
|
T/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1555738502
|
|
1.000 |
0.120 |
19 |
46755976 |
stop gained
|
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs543163491
|
|
0.827 |
0.160 |
19 |
46755995 |
missense variant
|
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
5 |
2001 |
2018 |
rs543163491
|
|
0.827 |
0.160 |
19 |
46755995 |
missense variant
|
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
2 |
2016 |
2018 |
rs543163491
|
|
0.827 |
0.160 |
19 |
46755995 |
missense variant
|
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
0.700 |
|
0 |
|
|
rs543163491
|
|
0.827 |
0.160 |
19 |
46755995 |
missense variant
|
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
0.700 |
|
0 |
|
|
rs543163491
|
|
0.827 |
0.160 |
19 |
46755995 |
missense variant
|
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
0.700 |
|
0 |
|
|
rs1191737604
|
|
1.000 |
0.120 |
19 |
46756004 |
frameshift variant
|
C/-;CC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1555738568
|
|
1.000 |
0.120 |
19 |
46756012 |
frameshift variant
|
-/CCCGC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1555738651
|
|
1.000 |
0.120 |
19 |
46756104 |
frameshift variant
|
G/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs886043706
|
|
1.000 |
0.120 |
19 |
46756125 |
frameshift variant
|
G/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs775681117
|
|
1.000 |
0.120 |
19 |
46756129 |
missense variant
|
G/C
|
snv
|
|
|
Fukuyama Type Congenital Muscular Dystrophy
|
0.700 |
|
0 |
|
|