Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_003193.5
p.S52_T56del0
c.155_166del12
NM_003193.5
p.I155_S166del12
c.463_497del36
NM_003193.5
p.C371*
c.1113T>A
NM_003193.5
p.I155N
c.464T>A
NM_003193.5
p.G34Splc
c.100+1G>A
NM_003193.5
p.S333T
c.998G>C
NM_003193.5
p.T22_V23delFs
c.66_67delAG
NM_003193.5
p.P72S
c.214C>T
NM_003193.5
p.L489I
c.1465C>A
NM_003193.5
p.R526Q
c.1577G>A
NM_003193.5
p.V23fs
c.67_68fs
NM_003193.5
p.K48delFs
c.143_144delAG