rs104894684
|
|
1.000 |
|
19 |
46756403 |
missense variant
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
0.800 |
1.000 |
0 |
2004 |
2004 |
rs587777223
|
|
1.000 |
|
19 |
46755451 |
start lost
|
A/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
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 |
|
|
rs104894680
|
|
1.000 |
0.120 |
19 |
46756604 |
stop gained
|
C/A;G;T
|
snv
|
4.1E-06;
1.7E-04
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2001 |
2004 |
rs1555738103
|
|
1.000 |
0.120 |
19 |
46755588 |
frameshift variant
|
C/-
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2001 |
2012 |
rs1568419860
|
|
1.000 |
0.120 |
19 |
46756525 |
frameshift variant
|
-/GG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2005 |
2017 |
rs765885747
|
|
1.000 |
0.120 |
19 |
46756378 |
stop gained
|
G/C;T
|
snv
|
4.4E-05;
2.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs748087383
|
|
1.000 |
0.120 |
19 |
46756617 |
frameshift variant
|
CG/-
|
delins
|
8.2E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
3 |
2005 |
2017 |
rs768606230
|
|
1.000 |
0.120 |
19 |
46756834 |
missense variant
|
C/T
|
snv
|
9.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
3 |
2001 |
2018 |
rs1247934219
|
|
1.000 |
0.120 |
19 |
46756273 |
missense variant
|
C/T
|
snv
|
1.7E-05
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs1301397800
|
|
1.000 |
0.120 |
19 |
46756883 |
missense variant
|
T/C
|
snv
|
4.1E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
2 |
2008 |
2009 |
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 |
rs1555738823
|
|
1.000 |
0.120 |
19 |
46756309 |
frameshift variant
|
TTCGGCTGCAA/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555739333
|
|
1.000 |
0.120 |
19 |
46756925 |
frameshift variant
|
C/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
1 |
2004 |
2004 |
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 |
rs398124395
|
|
1.000 |
0.120 |
19 |
46756391 |
missense variant
|
C/A;T
|
snv
|
6.1E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs104894679
|
|
1.000 |
0.120 |
19 |
46756376 |
missense variant
|
A/G
|
snv
|
6.3E-06
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
|
0.700 |
|
0 |
|
|
rs104894680
|
|
1.000 |
0.120 |
19 |
46756604 |
stop gained
|
C/A;G;T
|
snv
|
4.1E-06;
1.7E-04
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
|
0.700 |
|
0 |
|
|
rs104894689
|
|
1.000 |
0.120 |
19 |
46756214 |
stop gained
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
rs1060502109
|
|
1.000 |
0.120 |
19 |
46756533 |
stop gained
|
C/A;G
|
snv
|
4.5E-06
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
|
0 |
|
|
rs1290836394
|
|
1.000 |
0.120 |
19 |
46755605 |
frameshift variant
|
-/TGCGG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
|
0 |
|
|
rs1483781400
|
|
1.000 |
0.120 |
19 |
46756381 |
stop gained
|
G/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
|
0 |
|
|
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 |
|
|