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