Papers
RefSeq ID
Protein change
DNA change
1–12 of 175 variants
NM_001173393.3
p.M158T
c.473T>C
NM_001173393.3
p.T198del1
c.592_593delTGT
NM_001173393.3
p.T207A
c.619A>G
NM_001173393.3
p.T159ins1
c.476_477insAAC
NM_001173393.3
p.M158_T163del0
c.473_487del15
NM_001173393.3
p.V5V
c.15G>A
NM_001173393.3
p.K78E
c.232A>G
NM_001173393.3
p.D82G
c.245A>G
NM_001173393.3
p.D99H
c.295G>C
NM_001173393.3
p.S53_F55del0
c.158_163del6
NM_001173393.3
p.M158_T163del6
c.472_488del18
NM_001173393.3
p.S329Splc
c.986+9G>A