MSeqDR Master Exome Data Set M1: 376 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
9
126118471
G
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
-
-
5'_UTR
rs35454517
0.0683
-
lod=18:278
-
-
-
het
38
2
9
126118474
G
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
-
-
5'_UTR
NA
-
-
lod=18:278
-
-
-
het
1
3
9
126118492
C
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
-
-
5'_UTR
rs192413846
0.0026
-
-
-
-
-
het
4
4
9
126118517
A
-GCAGAGC
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
-
-
5'_UTR
rs72433015
-
-
lod=51:389
-
-
-
het
434
5
9
126118517
A
-GCAGAGC
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
-
-
5'_UTR
rs72433015
-
-
lod=51:389
-
-
-
hom
48
6
9
126118553
G
+C
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.14_15insC
p.R5NA
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
7
9
126118553
G
+C
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.14_15insC
p.R5NA
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
8
9
126118556
C
+A
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.17_18insA
p.P6NA
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
9
9
126118556
C
+A
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.17_18insA
p.P6NA
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
10
9
126118577
C
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.38C>T
p.A13V
non-syn
rs199695001
-
-
-
TOLERATED
NA
-
het
3
11
9
126118577
C
T
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.38C>T
p.A13V
non-syn
rs199695001
-
-
-
TOLERATED
NA
-
het
3
12
9
126118600
C
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.61C>T
p.L21L
syn
rs12551047
0.159
T=50/C=7326;T=314/C=3520;T=364/C=10846
lod=19:284
-
-
-
het
44
13
9
126118600
C
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.61C>T
p.L21L
syn
rs12551047
0.159
T=50/C=7326;T=314/C=3520;T=364/C=10846
lod=19:284
-
-
-
hom
2
14
9
126118600
C
T
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.61C>T
p.L21L
syn
rs12551047
0.159
T=50/C=7326;T=314/C=3520;T=364/C=10846
lod=19:284
-
-
-
het
44
15
9
126118600
C
T
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.61C>T
p.L21L
syn
rs12551047
0.159
T=50/C=7326;T=314/C=3520;T=364/C=10846
lod=19:284
-
-
-
hom
2
16
9
126118616
C
A
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.77C>A
p.A26D
non-syn
NA
-
-
-
DAMAGING
NA
-
het
1
17
9
126118616
C
A
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.77C>A
p.A26D
non-syn
NA
-
-
-
DAMAGING
NA
-
het
1
18
9
126125186
C
T
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.137C>T
p.P46L
non-syn
rs73571404
0.0123
T=2/C=8598;T=71/C=4335;T=73/C=12933
-
DAMAGING
D
-
het
7
19
9
126125186
C
T
ENST00000373631
ENSG00000148204
126118449
126142603
ENSP00000362734
CRB2
1
CRUM2_HUMAN
c.137C>T
p.P46L
non-syn
rs73571404
0.0123
T=2/C=8598;T=71/C=4335;T=73/C=12933
-
DAMAGING
D
-
het
7
20
9
126125318
C
A
ENST00000359999
ENSG00000148204
126118449
126142603
ENSP00000353092
CRB2
1
CRUM2_HUMAN
c.269C>A
p.T90N
non-syn
rs2808415
1
A=8596/C=0;A=4368/C=36;A=12964/C=36
-
TOLERATED
B
-
het
1
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