Variant type
|
Nucleotide changea
|
Protein change
|
rs number
|
Number of carriers (detected by all used methods)
|
Number of carriers (detected by Hi-Plex only)
|
---|
Non-sense
|
c.196C>T
|
p.Gln66*
|
rs180177083
|
2 heterozygotesb
| |
|
c.3113G>A
|
p.Trp1038*
|
rs180177132
|
4 heterozygotesc
| |
Frameshift
|
c.1947_1948insA
|
p.Glu650fs*13
|
-
|
1 heterozygote
| |
|
c.2982_2983insT
|
p.Ala995fs*16
|
rs180177127
|
1 heterozygote
| |
Missense
|
c.1010T>C
|
p.Leu337Ser
|
rs45494092
|
5 heterozygotesd
| |
|
c.1676A>G
|
p.Gln559Arg
|
rs152451
|
13 heterozygotesd
|
1 heterozygotee,f
|
1 homozygote
|
|
c.2014G>C
|
p.Glu672Gln
|
rs45532440
|
8 heterozygotes
| |
1 homozygote
|
|
c.2590C>T
|
p.Pro864Ser
|
rs45568339
|
-
|
1 heterozygotee,g,h
|
|
c.2993G>A
|
p.Gly998Glu
|
rs45551636
|
7 heterozygotes
|
1 heterozygote,e,f,g
|
Synonymous
|
c.1470C>T
|
p.Pro490Pro
|
rs45612837
|
-
|
1 heterozygotee,h,i
|
|
c.1572A>G
|
p.Ser524Ser
|
rs45472400
|
3 heterozygotes
| |
|
c.3300T>G
|
p.Thr1100Thr
|
rs45516100
|
8 heterozygotes
| |
1 homozygote
|
|
c.3495G>A
|
p.Ser1165Ser
|
-
|
1 heterozygote
| |
- *indicates a protein truncation event.
-
aNumber based on transcript sequence (NM_024675), +1 as A of ATG start codon.
-
bIncluding one sample that was genotyped by Taqman probe-based assay.
-
cAll four samples were genotyped by Taqman probe-based assay.
-
dIncluding duplicated sample.
-
eConfirmed by Sanger sequencing.
-
fPreviously screened by HRM only.
-
gUpon HRM curve re-analysis, the variant was apparent.
-
hUpon chromatogram re-analysis, the variant was apparent.
-
iInitially detected by HRM, not by Sanger sequencing.