Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_198465.4
p.R232C
c.694C>T
NM_198465.4
p.P789S
c.2365C>T
NM_198465.4
p.P907L
c.2720C>T
NM_198465.4
p.S938P
c.2812T>C
NM_198465.4
p.D971G
c.2912A>G
NM_198465.4
p.N1131S
c.3392A>G
NM_198465.4
p.R1374*
c.4120C>T
NM_198465.4
p.G16D
c.47G>A
NM_198465.4
p.P19_D20Splc
c.57+2T>C
NM_198465.4
p.T22N
c.65C>A
NM_198465.4
p.I31M
c.93T>G
NM_198465.4
p.K54E
c.160A>G