Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_018491.5
p.S115N
c.344G>A
NM_018491.5
p.R192R
c.576A>G
NM_018491.5
p.M1K
c.2T>A
NM_018491.5
p.E11E
c.33G>A
NM_018491.5
p.E26D
c.78G>C
NM_018491.5
p.L38L
c.114C>T
NM_018491.5
p.G52Splc
c.154+179T>A
NM_018491.5
p.G52Splc
c.154+256T>G
NM_018491.5
p.L63insFs
c.188_189insC
NM_018491.5
p.L63_T64insFs
c.189_190insTG
NM_018491.5
p.G79E
c.236G>A
NM_018491.5
p.G81Splc
c.241+198T>G