rs1060502521
|
|
1
|
|
|
4 |
54733162 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs121913234
|
|
1
|
|
|
4 |
54727414 |
splice region variant
|
AAACCCATGTATGAAGTACAGTGGAAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121913685
|
|
4
|
0.882 |
0.080 |
4 |
54727443 |
inframe deletion
|
TTGTTG/-;TTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553887262
|
|
1
|
|
|
4 |
54695552 |
frameshift variant
|
-/T
|
ins |
|
|
0.700 |
|
0 |
|
|
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 |
|
|
rs587776804
|
|
1
|
|
|
4 |
54727418 |
inframe deletion
|
CCATGTATGAAGTAC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs869025568
|
|
1
|
|
|
4 |
54727435 |
inframe deletion
|
TGGAAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057520031
|
|
2
|
1.000 |
0.040 |
4 |
54727440 |
missense variant
|
A/C;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1057520032
|
|
2
|
1.000 |
|
4 |
54727438 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
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 |
rs1057520034
|
|
1
|
|
|
4 |
54727447 |
missense variant
|
TT/AA
|
mnv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1057520035
|
|
1
|
|
|
4 |
54727438 |
missense variant
|
GG/TT
|
mnv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
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 |
rs1057519711
|
|
5
|
0.882 |
0.240 |
4 |
54733168 |
missense variant
|
T/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs17084733
|
|
2
|
1.000 |
0.080 |
4 |
54738774 |
3 prime UTR variant
|
G/A
|
snv |
|
0.10
|
0.010 |
1.000 |
1 |
2019 |
2019 |