rs1021631442
|
|
3
|
0.882 |
0.200 |
2 |
47806279 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057517764
|
|
3
|
1.000 |
0.160 |
2 |
47805628 |
frameshift variant
|
-/T
|
delins |
|
7.0E-06
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1064793489
|
|
2
|
1.000 |
0.160 |
2 |
47805027 |
splice donor variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1064793600
|
|
1
|
1.000 |
0.160 |
2 |
47799597 |
inframe deletion
|
CTT/-
|
delins |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1114167720
|
|
2
|
1.000 |
0.160 |
2 |
47806490 |
frameshift variant
|
-/GAGACTA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1114167729
|
|
2
|
1.000 |
0.160 |
2 |
47806652 |
splice donor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1114167801
|
|
2
|
1.000 |
0.160 |
2 |
47799109 |
frameshift variant
|
AAAGA/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1244531716
|
|
1
|
1.000 |
0.160 |
2 |
47799422 |
missense variant
|
T/A
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1251033858
|
|
1
|
1.000 |
0.160 |
2 |
47799235 |
missense variant
|
T/C;G
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1316409501
|
|
2
|
1.000 |
0.160 |
2 |
47803663 |
missense variant
|
G/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
3 |
1998 |
2012 |
rs1333555322
|
|
1
|
1.000 |
0.160 |
2 |
47799976 |
stop gained
|
G/A;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1416452389
|
|
1
|
1.000 |
0.160 |
2 |
47806590 |
stop gained
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs146816935
|
|
3
|
1.000 |
0.160 |
2 |
47798875 |
stop gained
|
C/G;T
|
snv |
4.0E-06;
8.0E-06
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1553331290
|
|
3
|
1.000 |
0.160 |
2 |
47803466 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553331676
|
|
2
|
1.000 |
0.160 |
2 |
47803626 |
splice donor variant
|
GCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1553332166
|
|
2
|
1.000 |
0.160 |
2 |
47804934 |
stop gained
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553332671
|
|
2
|
1.000 |
0.160 |
2 |
47805635 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1553332772
|
|
1
|
1.000 |
0.160 |
2 |
47805708 |
splice donor variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553332996
|
|
1
|
1.000 |
0.160 |
2 |
47806234 |
stop gained
|
-/AATAGCAAATGCAGTTGTTAAAGAACTTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333421
|
|
2
|
1.000 |
0.160 |
2 |
47806499 |
frameshift variant
|
-/A;GGA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333584
|
|
1
|
1.000 |
0.160 |
2 |
47806566 |
stop gained
|
-/CTAATCTCCCAGAGGAAGTTAT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333594
|
|
1
|
1.000 |
0.160 |
2 |
47806567 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333598
|
|
1
|
1.000 |
0.160 |
2 |
47806571 |
frameshift variant
|
-/CTCCCAGAGGAAGTTATTC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333599
|
|
2
|
1.000 |
0.160 |
2 |
47806571 |
frameshift variant
|
-/CTCCCAGAGGAAGTTATTCAAAA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553333635
|
|
1
|
1.000 |
0.160 |
2 |
47806585 |
frameshift variant
|
TATTCAAAAGGGACAT/-
|
delins |
|
|
0.700 |
|
0 |
|
|