Genomic position † |
count |
% |
cDNA ‡ and protein change § |
Effect
and previous reports |
g.154031355G>A |
463 |
10.1 |
c.473C>T,
p.(Thr158Met) ¶ |
Missense variation (Bienvenu et al., 2002; Krishnaraj
et al., 2017; Percy et al., 2010) |
g.154031326G>A
|
409
|
8.9
|
c.502C>T,
p.(Arg168*) ¶
|
Nonsense variation, leading to truncation (Bienvenu et al., 2002;
Krishnaraj et al., 2017; Percy et al., 2010)
|
g.154031065G>A
|
345
|
7.5
|
c.763C>T,
p.(Arg255*) ¶
|
Nonsense variation, leading to truncation (Bienvenu et al., 2002;
Krishnaraj et al., 2017; Percy et al., 2010)
|
g.154031020G>A
|
309
|
6.8
|
c.808C>T,
p.(Arg270*) ¶
|
Nonsense variation, leading to truncation (Bienvenu et al., 2002;
Krishnaraj et al., 2017; Percy et al., 2010)
|
g.154030948G>A
|
281
|
6.1
|
c.880C>T,
p.(Arg294*) ¶
|
Nonsense variation, leading to truncation (Krishnaraj et al., 2017;
Percy et al., 2010)
|
g.154030912G>A |
279 |
6.1 |
c.916C>T,
p.(Arg306Cys) ¶ |
Missense variation (Bienvenu et al., 2002; Krishnaraj
et al., 2017; Percy et al., 2010) |
g.154031431G>A
|
249
|
5.4
|
c.397C>T,
p.(Arg133Cys) ¶
|
Missense variation (Krishnaraj et al., 2017; Percy et al., 2010;
Zappella, Meloni, Longo, Hayek, & Renieri, 2001)
|
g.154032268G>A
|
161
|
3.5
|
c.316C>T,
p.(Arg106Trp) ¶
|
Missense variation (Krishnaraj et al., 2017; Percy et al., 2010)
|
g.154031373G>C
|
80
|
1.7
|
c.455C>G,
p.(Pro152Arg)
|
Missense variation (Cheadle et al., 2000)
|
g.154031022delC
|
67
|
1.5
|
c.806delG,
p.(Gly269fs)
|
Frameshift deletion leading to missense (Das et al., 2013)
|
g.154030621_154030664del44 |
50 |
1.1 |
c.1164_1207del44, p.(Pro389*) |
Frameshift deletion leading to truncation |
g.154030631_154030671del41 |
49 |
1.1 |
c.1157_1197del41, p.(Leu386fs) |
Deletion leading to frameshift |