|
Gene
|
CDS disruptive mutation
|
dbSNP IDc
|
HapMap SNP ID
|
|---|
| |
Changea
|
Locationb
| | |
|---|
|
Nonsense mutation
| | | | |
|
FBXL21
|
taT (Y) → taA
|
chr5+:135,300,350
|
rs17169429 (+27)
|
rs17169429 (+27)
|
|
FCGR2C
|
Cag (Q) → Tag
|
chr1+:159,826,011
|
rs3933769 (-60)
|
rs3933769 (-60)
|
|
GPR33
|
Cga (R) → Tga
|
chr14-:31,022,505
|
rs17097921
|
rs17097921
|
|
SEC22B
|
Caa (Q) → Taa
|
chr1+:143,815,304
|
rs2794062
|
rs16826061 (+95)
|
|
SERPINB11
|
Gaa (E) → Taa
|
chr18+:59,530,818
|
rs4940595
|
rs4940595
|
|
TAAR9
|
Aaa (K) → Taa
|
chr6+:132,901,302
|
rs2842899
|
rs2842899
|
|
Frame-shift mutation
| | | | |
|
CASP12
|
ΔCA
|
chr11-:104,268,394-5
|
rs497116 (-67)
|
rs497116 (-67)
|
|
KRTAP7-1
|
ΔT
|
chr21-:31123841
|
rs35359062
|
rs9982775 (-20)
|
|
PSAPL1
| ∇A |
chr4-:7,487,457
|
rs58463471
|
rs4484302 (+441)
|
|
TMEM158
| ∇A |
chr3-:45,242,396
|
rs11402022
|
rs33751 (+725)
|
|
TPSB2
|
ΔC
|
chr16-:1,219,240
|
rs2234647
|
rs2745145 (-1771)
|
- aBase change, deletion, and insertion are denoted by '→', '∇', and 'Δ' respectively. bThe genomic location, based on the NCBI build 36 of the Human Reference Genome, includes the chromosome, the strand ('+' being forward and '-' reverse), and the coordinate of the base change. cThe identifier of the mutation as in the dbSNP (build 129). If a mutation is not included in the dbSNP, the identifier of the closest SNP and its distance (shown in parentheses) to the mutation are shown instead.
