rs886042584
|
|
1.000 |
0.120 |
2 |
71669126 |
missense variant
|
G/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2010 |
2018 |
rs1064794020
|
|
0.925 |
0.120 |
2 |
71679173 |
stop gained
|
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2010 |
2016 |
rs121908959
|
|
0.851 |
0.120 |
2 |
71674242 |
stop gained
|
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2005 |
2010 |
rs1380642629
|
|
1.000 |
0.120 |
2 |
71598644 |
stop gained
|
C/T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs1420930684
|
|
1.000 |
0.120 |
2 |
71568170 |
splice acceptor variant
|
A/G
|
snv
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs1474151297
|
|
1.000 |
0.120 |
2 |
71611627 |
splice donor variant
|
G/C
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2008 |
2009 |
rs1553376691
|
|
1.000 |
0.120 |
2 |
71600843 |
splice donor variant
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2009 |
2014 |
rs1553422723
|
|
1.000 |
0.120 |
2 |
71682608 |
stop gained
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs1553521017
|
|
1.000 |
0.120 |
2 |
71513784 |
stop gained
|
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2009 |
2016 |
rs1553522133
|
|
1.000 |
0.120 |
2 |
71516210 |
frameshift variant
|
G/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs1553522751
|
|
1.000 |
0.120 |
2 |
71516996 |
missense variant
|
A/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs370874727
|
|
0.925 |
0.120 |
2 |
71589591 |
splice acceptor variant
|
A/G
|
snv
|
1.2E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2010 |
2014 |
rs373585652
|
|
0.925 |
0.120 |
2 |
71513868 |
stop gained
|
C/G;T
|
snv
|
8.0E-06;
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2005 |
2010 |
rs398123763
|
|
0.851 |
0.120 |
2 |
71520905 |
splice donor variant
|
G/A
|
snv
|
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs398123767
|
|
1.000 |
0.120 |
2 |
71535305 |
frameshift variant
|
-/A
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2005 |
2010 |
rs398123770
|
|
1.000 |
0.120 |
2 |
71549349 |
splice acceptor variant
|
G/A
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2010 |
2014 |
rs398123782
|
|
1.000 |
0.120 |
2 |
71511817 |
frameshift variant
|
T/-
|
del
|
1.3E-05
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2010 |
2016 |
rs398123797
|
|
1.000 |
0.120 |
2 |
71679124 |
frameshift variant
|
CAGC/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2010 |
2016 |
rs766341386
|
|
0.925 |
0.120 |
2 |
71590281 |
frameshift variant
|
TT/-;TTT
|
delins
|
2.4E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2007 |
2009 |
rs766936914
|
|
1.000 |
0.120 |
2 |
71528368 |
frameshift variant
|
C/-
|
delins
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs886042110
|
|
1.000 |
0.120 |
2 |
71661900 |
intron variant
|
G/C;T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2014 |
2015 |
rs886042827
|
|
1.000 |
0.120 |
2 |
71590278 |
frameshift variant
|
CT/-
|
delins
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1057516051
|
|
1.000 |
0.120 |
2 |
71660587 |
frameshift variant
|
G/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519132
|
|
1.000 |
0.120 |
2 |
71664401 |
frameshift variant
|
T/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1236367931
|
|
1.000 |
0.120 |
2 |
71535283 |
frameshift variant
|
-/A
|
delins
|
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
1 |
2016 |
2016 |