Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_000804.4
p.Y107delFs
c.319_320delTA
NM_000804.4
p.Y107fs
c.319_320fs
NM_000804.4
p.V16delFs
c.46_47delGT
NM_000804.4
p.Q46_P47del2
c.136_140del6
NM_000804.4
p.Y107*
c.321T>A
NM_000804.4
p.Y107*
c.321T>G
NM_000804.4
p.R98C
c.292C>T
NM_000804.4
p.H42Y
c.124C>T
NM_000804.4
p.G165Splc
c.493+2T>C
NM_000804.4
p.Q6*
c.16C>T
NM_000804.4
p.R28W
c.82C>T
NM_000804.4
p.P47_S48del2
c.139_143del6