MSeqDR Master Exome Data Set M1: 258 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
2
110880046
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs13386424
0.5211
-
-
-
-
-
het
15
2
2
110880046
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs13386424
0.5211
-
-
-
-
-
hom
1
3
2
110880187
C
T
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs1828277
0.99705
-
-
-
-
-
hom
651
4
2
110880304
A
G
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
5
2
110880459
A
G
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs114257431
0.0224
-
-
-
-
-
het
4
6
2
110880545
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs73954612
0.1368
-
-
-
-
-
het
7
7
2
110880545
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs73954612
0.1368
-
-
-
-
-
hom
1
8
2
110880644
C
T
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs73954613
0.1342
-
-
-
-
-
het
7
9
2
110880644
C
T
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs73954613
0.1342
-
-
-
-
-
hom
1
10
2
110880739
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
2
110880866
C
T
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs114393408
0.0028
-
-
-
-
-
het
1
12
2
110880871
A
G
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
2
110881118
G
A
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs150558683
0.023
-
-
-
-
-
het
1
14
2
110881118
G
A
ENST00000393272
ENSG00000144061
110879888
110962643
ENSP00000376953
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs150558683
0.023
-
-
-
-
-
het
1
15
2
110881118
G
A
ENST00000445609
ENSG00000144061
110879888
110962643
ENSP00000389879
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs150558683
0.023
-
-
-
-
-
het
1
16
2
110881118
G
A
ENST00000496524
ENSG00000144061
110879888
110962643
-
NPHP1
-1
-
c.9813C>T
p.S3271S
syn
rs150558683
0.023
-
-
-
-
-
het
1
17
2
110881174
A
G
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs189472793
0.0032
-
-
-
-
-
het
4
18
2
110881174
A
G
ENST00000316534
ENSG00000144061
110879888
110962643
ENSP00000313169
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs189472793
0.0032
-
-
-
-
-
hom
1
19
2
110881174
A
G
ENST00000393272
ENSG00000144061
110879888
110962643
ENSP00000376953
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs189472793
0.0032
-
-
-
-
-
het
4
20
2
110881174
A
G
ENST00000393272
ENSG00000144061
110879888
110962643
ENSP00000376953
NPHP1
-1
NPHP1_HUMAN
-
-
3'_UTR
rs189472793
0.0032
-
-
-
-
-
hom
1
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: