rs104894075
|
|
0.851 |
0.080 |
8 |
74362940 |
stop gained
|
C/G
|
snv
|
4.0E-06
|
2.1E-05
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs104894075
|
|
0.851 |
0.080 |
8 |
74362940 |
stop gained
|
C/G
|
snv
|
4.0E-06
|
2.1E-05
|
Charcot-Marie-Tooth disease, Type 4A, axonal form
|
0.700 |
|
0 |
|
|
rs104894077
|
|
0.790 |
0.080 |
8 |
74361886 |
stop gained
|
C/T
|
snv
|
7.6E-05
|
1.5E-04
|
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
|
0.700 |
|
0 |
|
|
rs104894077
|
|
0.790 |
0.080 |
8 |
74361886 |
stop gained
|
C/T
|
snv
|
7.6E-05
|
1.5E-04
|
Charcot-Marie-Tooth disease, Type 4A, axonal form
|
0.700 |
|
0 |
|
|
rs104894077
|
|
0.790 |
0.080 |
8 |
74361886 |
stop gained
|
C/T
|
snv
|
7.6E-05
|
1.5E-04
|
Charcot-Marie-Tooth Disease, Recessive Intermediate A
|
0.700 |
|
0 |
|
|
rs104894077
|
|
0.790 |
0.080 |
8 |
74361886 |
stop gained
|
C/T
|
snv
|
7.6E-05
|
1.5E-04
|
Charcot-Marie-Tooth disease type 4
|
0.700 |
|
0 |
|
|
rs104894077
|
|
0.790 |
0.080 |
8 |
74361886 |
stop gained
|
C/T
|
snv
|
7.6E-05
|
1.5E-04
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs104894078
|
|
0.851 |
0.080 |
8 |
74360184 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Charcot-Marie-Tooth disease type 4
|
0.700 |
|
0 |
|
|
rs104894079
|
|
0.925 |
0.080 |
8 |
74360295 |
missense variant
|
A/C
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Creatine phosphokinase serum increased
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Peripheral axonal neuropathy
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Charcot-Marie-Tooth Disease, Recessive Intermediate A
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Serum alkaline phosphatase raised
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Polyneuropathy
|
0.700 |
|
0 |
|
|
rs104894080
|
|
0.790 |
0.120 |
8 |
74364005 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Sensory neuropathy
|
0.700 |
|
0 |
|
|
rs1060500978
|
|
1.000 |
0.080 |
8 |
74364073 |
frameshift variant
|
G/-
|
delins
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
|
0.700 |
|
0 |
|
|
rs1060500979
|
|
1.000 |
0.080 |
8 |
74361976 |
frameshift variant
|
A/-
|
delins
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
|
0.700 |
|
0 |
|
|
rs1174933176
|
|
1.000 |
0.080 |
8 |
74360185 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
|
0.700 |
|
0 |
|
|
rs121908112
|
|
1.000 |
0.080 |
8 |
74350553 |
stop gained
|
G/A
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
|
0.700 |
|
0 |
|
|
rs121908114
|
|
1.000 |
0.080 |
8 |
74363051 |
missense variant
|
C/T
|
snv
|
1.6E-05
|
1.5E-04
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs121908115
|
|
1.000 |
0.080 |
8 |
74364009 |
missense variant
|
G/A;C
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs1323153568
|
|
1.000 |
0.080 |
8 |
74364219 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Charcot-Marie-Tooth disease, Type 4A, axonal form
|
0.700 |
|
0 |
|
|
rs1476856429
|
|
0.882 |
0.080 |
8 |
74364057 |
missense variant
|
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.700 |
|
0 |
|
|
rs1554548327
|
|
1.000 |
0.080 |
8 |
74363982 |
splice region variant
|
AAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTACGAGCGTGTCTTGAAGAGAAAAACATTTAACAAGGTTTTAGGACATGTCAACAATATATTAATCTCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAAGTTCTTGGCACGACCCTTGTGGTTGGTTTGCTTGCAGGAGTGGGATATTTTGCTTTTATGCTTTTCAGAAAGAGGCTTGGCAGCATGATATTAGCATTTAGACCCAGACCAAATTATTTCTAG/-
|
delins
|
|
|
Charcot-Marie-Tooth Disease, Recessive Intermediate A
|
0.700 |
|
0 |
|
|