Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_018663.3
p.L26L
c.76C>T
NM_018663.3
p.M1K
c.2T>A
NM_018663.3
p.A5V
c.14C>T
NM_018663.3
p.A12A
c.36C>G
NM_018663.3
p.A39fs
c.115_116fs
NM_018663.3
p.A39_T40delFs
c.116_120del5
NM_018663.3
p.S41Splc
c.122+299G>T
NM_018663.3
p.G79R
c.235G>A
NM_018663.3
p.G79R
c.235G>C
NM_018663.3
p.V116_A120del5
c.346_359del15
NM_018663.3
p.A118T
c.352G>A
NM_018663.3
p.E133_G134Splc
c.400-1G>A