rs1553887960
|
|
1
|
|
|
4 |
54699760 |
frameshift variant
|
TCAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560395607
|
|
1
|
|
|
4 |
54698334 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560417385
|
|
1
|
|
|
4 |
54727420 |
inframe deletion
|
CCATGTATGAAGTACAGTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1560417396
|
|
1
|
|
|
4 |
54727421 |
protein altering variant
|
CATGTATG/AA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560417427
|
|
1
|
|
|
4 |
54727433 |
protein altering variant
|
ACAGTGGA/CC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560417438
|
|
1
|
|
|
4 |
54727436 |
frameshift variant
|
GTGGAAGGTTGTTGAGGAG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1560417535
|
|
1
|
|
|
4 |
54727444 |
inframe deletion
|
TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1560417642
|
|
1
|
|
|
4 |
54727482 |
protein altering variant
|
-/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560417666
|
|
1
|
|
|
4 |
54727488 |
protein altering variant
|
-/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560417673
|
|
1
|
|
|
4 |
54727489 |
inframe insertion
|
-/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560420761
|
|
1
|
|
|
4 |
54731338 |
frameshift variant
|
AC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs587776793
|
|
1
|
|
|
4 |
54285934 |
inframe deletion
|
CATGATTCGAAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs587776794
|
|
1
|
|
|
4 |
54274863 |
protein altering variant
|
-/AGAGGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776795
|
|
1
|
|
|
4 |
54274865 |
inframe deletion
|
GGGTCATTGAATCAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776804
|
|
1
|
|
|
4 |
54727418 |
inframe deletion
|
CCATGTATGAAGTAC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs606231209
|
|
1
|
|
|
4 |
54274883 |
inframe deletion
|
AGCCCAGATGGACATGAA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs869025568
|
|
1
|
|
|
4 |
54727435 |
inframe deletion
|
TGGAAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121913523
|
|
2
|
1.000 |
0.040 |
4 |
54728092 |
missense variant
|
T/A;C
|
snv |
|
|
0.730 |
0.900 |
10 |
2005 |
2019 |
rs1057519708
|
|
2
|
1.000 |
0.040 |
4 |
54728096 |
missense variant
|
T/A;G
|
snv |
|
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs1057520031
|
|
2
|
1.000 |
0.040 |
4 |
54727440 |
missense variant
|
A/C;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1057520033
|
|
2
|
1.000 |
0.040 |
4 |
54727439 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1058930
|
|
4
|
0.882 |
0.040 |
10 |
95058362 |
missense variant
|
G/A;C
|
snv |
1.0E-04;
3.7E-02
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs200375589
|
|
2
|
1.000 |
0.040 |
4 |
54727442 |
missense variant
|
G/A;C;T
|
snv |
6.0E-05
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs778015444
|
|
2
|
1.000 |
0.040 |
4 |
54274917 |
missense variant
|
C/T
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs7909236
|
|
2
|
1.000 |
0.040 |
10 |
95069673 |
upstream gene variant
|
G/T
|
snv |
|
0.18
|
0.010 |
1.000 |
1 |
2017 |
2017 |