rs1553630279
|
0.807 |
0.160 |
3 |
41225049 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
1.000 |
3 |
1989 |
2017 |
rs1057519379
|
0.882 |
0.080 |
3 |
41233777 |
frameshift variant |
-/C
|
ins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1131692181
|
0.925 |
0.040 |
3 |
41234286 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1369821061
|
1.000 |
|
3 |
41224980 |
stop gained |
C/A;T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1553630304
|
1.000 |
|
3 |
41225138 |
stop gained |
-/CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1553630507
|
1.000 |
|
3 |
41225790 |
frameshift variant |
ACA/CC
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1553631860
|
1.000 |
|
3 |
41233763 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1559468403
|
1.000 |
|
3 |
41225208 |
splice donor variant |
G/C
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1559470315
|
0.732 |
0.320 |
3 |
41227287 |
protein altering variant |
CCACAAGCAG/T
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1559474364
|
1.000 |
|
3 |
41233640 |
stop gained |
A/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1559474966
|
1.000 |
|
3 |
41234202 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs1559477241
|
1.000 |
|
3 |
41236709 |
missense variant |
G/C
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs376393123
|
1.000 |
|
3 |
41225850 |
stop gained |
C/G;T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs397514554
|
1.000 |
|
3 |
41234157 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs398122907
|
1.000 |
|
3 |
41233611 |
frameshift variant |
TTCT/-
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs587777412
|
1.000 |
|
3 |
41225542 |
frameshift variant |
-/A
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs748294403
|
1.000 |
|
3 |
41236614 |
stop gained |
C/A;T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs775104326
|
0.776 |
0.160 |
3 |
41224995 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs863224864
|
1.000 |
|
3 |
41233614 |
missense variant |
T/G
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs886039332
|
1.000 |
|
3 |
41234217 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|
rs886041281
|
1.000 |
|
3 |
41227268 |
stop gained |
-/A
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
|
|
0.700 |
|
0 |
|
|