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 |