rs794728589
|
|
1.000 |
0.080 |
1 |
156115275 |
splice donor variant
|
G/A;C
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
4 |
2008 |
2013 |
rs886043109
|
|
1.000 |
0.080 |
1 |
156115001 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
4 |
2002 |
2011 |
rs267607573
|
|
1.000 |
0.080 |
1 |
156134865 |
stop gained
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2008 |
2017 |
rs28933093
|
|
0.882 |
0.160 |
1 |
156130741 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2013 |
2018 |
rs397517912
|
|
1.000 |
0.080 |
1 |
156135244 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2014 |
2018 |
rs57508089
|
|
1.000 |
0.080 |
1 |
156136110 |
synonymous variant
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2007 |
2016 |
rs57983345
|
|
0.851 |
0.160 |
1 |
156115034 |
missense variant
|
A/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2007 |
2011 |
rs59914820
|
|
0.925 |
0.160 |
1 |
156115000 |
missense variant
|
C/G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2002 |
2011 |
rs864309525
|
|
0.925 |
0.120 |
1 |
156115007 |
inframe deletion
|
GAG/-
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
3 |
2012 |
2017 |
rs1553265606
|
|
1.000 |
0.080 |
1 |
156135900 |
splice acceptor variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2008 |
2008 |
rs1553265760
|
|
1.000 |
0.080 |
1 |
156136106 |
frameshift variant
|
A/-
|
del
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2011 |
2012 |
rs1553265924
|
|
1.000 |
0.080 |
1 |
156136438 |
splice donor variant
|
T/G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2008 |
2008 |
rs267607552
|
|
1.000 |
0.080 |
1 |
156136437 |
splice donor variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2008 |
2008 |
rs267607554
|
|
1.000 |
0.080 |
1 |
156135925 |
stop gained
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2008 |
2016 |
rs267607557
|
|
1.000 |
0.080 |
1 |
156137182 |
missense variant
|
T/C;G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2017 |
2018 |
rs267607620
|
|
0.925 |
0.120 |
1 |
156114929 |
missense variant
|
C/G;T
|
snv
|
6.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2009 |
2014 |
rs267607637
|
|
0.925 |
0.120 |
1 |
156136402 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2014 |
2015 |
rs267607646
|
|
1.000 |
0.080 |
1 |
156115265 |
frameshift variant
|
-/G
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2009 |
2012 |
rs57629361
|
|
0.827 |
0.280 |
1 |
156137207 |
missense variant
|
C/A;G;T
|
snv
|
9.3E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2003 |
2014 |
rs869125101
|
|
1.000 |
0.080 |
1 |
156134529 |
splice donor variant
|
G/A;C
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
2 |
2008 |
2008 |
rs1060502211
|
|
1.000 |
0.080 |
1 |
156135952 |
stop gained
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060502215
|
|
0.925 |
0.120 |
1 |
156115040 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1340894696
|
|
1.000 |
0.080 |
1 |
156136083 |
missense variant
|
C/G;T
|
snv
|
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1553261855
|
|
1.000 |
0.080 |
1 |
156114968 |
frameshift variant
|
-/TC
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs267607618
|
|
1.000 |
0.080 |
1 |
156136350 |
stop gained
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
1 |
2009 |
2009 |