chr14:24711458 |
c.81C>A |
p.Cys27Ter |
rs1060499576 |
DC, RS |
/ |
chr14:24709890 |
c.796C>T |
p.Arg266Ter |
rs1064795632 |
N/A |
/ |
chr14:24709881 |
c.805C>T |
p.Gln269Ter |
rs387907153 |
DC, mucocutaneous features, BMF |
19, 18 |
chr14:24709875 |
c.811C>T |
p.Gln271Ter |
rs387907154 |
AA |
19 |
chr14:24709860 |
c.826delA |
p.Arg276GlyfsTer41 |
rs863223324 |
ND, BMF, lichenoid tongue, dry skin, intrauterine growth retardation |
18 |
chr14:24709848 |
c.838A>T |
p.Lys280Ter |
rs121918543 |
DC, HHS, and RS |
12, 15 |
chr14:24709848 |
c.838A>G |
p.Lys280Glu |
rs121918543 |
DC |
12, 21, 8 |
chr14:24709847 |
c.839delA |
p.Lys280ArgfsTer37 |
rs1594551449 |
DC, RS |
19 |
chr14:24709842 |
c.844C>A |
p.Arg282Ser |
rs121918545 |
DC, RS |
12, 17, 23 |
chr14:24709842 |
c.844C>T |
p.Arg282Cys |
rs121918545 |
DC, AA, PD and mucosal changes |
20, 12, 17 |
chr14:24709841 |
c.845G>A |
p.Arg282His |
rs121918544 |
DC, HHS, RS |
12, 22, 17, 24, 25, 26, 27, 28 |
chr14:24709839 |
c.847C>T |
p.Pro283Ser |
rs199422311 |
DC, HHS |
12, 15 |
chr14:24709839 |
c.847C>G |
p.Pro283Ala |
rs199422311 |
DC |
12, 15 |
chr14:24709838 |
c.848C>A |
p.Pro283His |
rs199422313 |
DC |
12, 15 |
chr14:24709837 |
c.849delC |
p.Thr284GlnfsTer33 |
/ |
ND, BMF |
18 |
chr14:24709837 |
c.849_850insC |
p.Thr284HisfsTer8 |
rs199422315 |
DC, AA |
12, 15 |
chr14:24709836 |
c.850A>G |
p.Thr284Ala |
rs199422314 |
DC |
12, 15 |
chr14:24709835 |
c.851C>A |
p.Thr284Lys |
/ |
DC |
18 |
chr14:24709835 |
c.851C>G |
p.Thr284Arg |
/ |
BMF, hair loss, dental loss, PD, short stature, osteoporosis |
18 |
chr14:24709829 |
c.857delTinsGC |
p.Met286SerfsTer5 |
/ |
ND, BMF, microcephaly, low immunoglobulins |
18 |
chr14:24709826 |
c.860T>C |
p.Leu287Pro |
rs199422316 |
DC |
12, 15 |
chr14-24709824 |
c.862T>C |
p.Phe288Leu |
rs199422317 |
DC |
12, 15 |
chr14:24709821 |
c.865C>T |
p.Pro289Ser |
rs1555304055 |
N/A |
29 |
chr14:24709820 |
c.865_866delinsAG |
p.Pro289Ser |
rs199422318 |
DC |
12, 15 |
chr14:24709819 |
c.867_868insC |
p.Phe290LeufsTer2 |
/ |
DC |
12 |
chr14:24709815 |
c.871A>G |
p.Arg291Gly |
rs199422319 |
DC |
12, 15 |
chr14:24709812 |
c.872_875del |
p.Arg291IlefsTer25 |
/ |
DC, PD |
14 |
chr14:24709794 |
c.892delC |
p.Gln298ArgfsTer19 |
rs199422320 |
DC |
12, 15 |
chr14:24709508 |
c.1090dup |
p.Leu364ProfsTer9 |
rs1566366182 |
DC |
/ |