Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_022496.5
p.A271S
c.811G>T
NM_022496.5
p.R338*
c.1012C>T
NM_022496.5
p.K14_G16delFs
c.41_47del7
NM_022496.5
p.H19D
c.55C>G
NM_022496.5
p.R36H
c.107G>A
NM_022496.5
p.F40F
c.120T>C
NM_022496.5
p.T41_E47del7
c.121_140del21
NM_022496.5
p.I57V
c.169A>G
NM_022496.5
p.V66V
c.198G>A
NM_022496.5
p.Q71K
c.211C>A
NM_022496.5
p.T103I
c.308C>T
NM_022496.5
p.E115K
c.343G>A