|
Variants
|
ISBT Allele name
|
GenBank ID number
|
gnomAD v2.1.1 ID number#
|
dbSNP ID number
|
Frequency
|
Nearest Type
|
SSF (0–100)
|
MaxEnte(0–16)
|
NNS(0–1)
|
GS(0–15)
|
Splice probability
|
|---|
|
Score
|
Change
|
Score
|
Change
|
Score
|
Change
|
Score
|
Change
|
|---|
|
WT
|
MUT
|
%
|
WT
|
MUT
|
%
|
WT
|
MUT
|
%
|
WT
|
MUT
|
%
|
|---|
|
c.28. + 1_2delGT
|
Novel
|
MK393880
|
g.136150576_77delCA
|
rs5442107549
|
NA
|
5'
|
86.72
|
0
|
100
|
10.9
|
0
|
100
|
0.99
|
0
|
100
|
15.11
|
0
|
100
|
1
|
|
c.28 + 5G > A
|
Novel
|
MT877223
|
g.136150573C > T
|
rs5442107547
|
NA
|
5'
|
86.72
|
74.57
|
14.01
|
10.9
|
4.89
|
55.14
|
0.99
|
0.28
|
71.72
|
15.11
|
8.84
|
41.5
|
0.996
|
|
c.28 + 5G > C
|
Novel
|
MN540965
|
g.136150573C > G
|
rs5442107548
|
NA
|
5'
|
86.72
|
74.03
|
14.63
|
10.9
|
4.54
|
58.35
|
0.99
|
0.16
|
83.84
|
15.11
|
7.91
|
47.65
|
0.997
|
|
c.155 + 5G > A
|
ABO*B3.03
|
MN540966
|
g.136136716C > T
|
rs782187929
|
0.0009%
|
5'
|
87.13
|
74.98
|
13.94
|
10.1
|
3.53
|
65.05
|
0.97
|
0.19
|
80.41
|
9.02
|
2.59
|
71.29
|
0.998
|
|
c.204-1G > A
|
Novel
|
MN540964
|
g.136133523C > A
|
rs1444418339
|
0.0008%
|
3'
|
80.97
|
0
|
100
|
7.45
|
0
|
100
|
0.44
|
0
|
100
|
5.36
|
0
|
100
|
1
|
|
c.374 + 5G > A
|
ABO*AEL.04
|
MN540967
|
g.136132791C > T
|
rs1289213676
|
0.0004%
|
5'
|
84.81
|
72.66
|
14.33
|
9.82
|
3.59
|
63.44
|
0.99
|
0.72
|
27.27
|
3.14
|
0
|
100
|
0.998
|
- *SSF SpliceSiteFinder-like, MaxEnte MaxEntScan, NNS NNSPLICE, GS GeneSplicer, WT wild type, MUT mutation
- NA not applicable. #The position in gnomAD v2.1.1 is referenced from NC_000009.11 in gnomAD v2.1.1. Value in parentheses of the tools is score range. Nucleotide position 1 in the variants is identical to the first nucleotide of the coding sequence
