Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_012337.3
p.R145*
c.433C>T
NM_012337.3
p.Q241*
c.721C>T
NM_012337.3
p.E291G
c.872A>G
NM_012337.3
p.R303*
c.907C>T
NM_012337.3
p.L329L
c.987G>C
NM_012337.3
p.P2S
c.4C>T
NM_012337.3
p.V30M
c.88G>A
NM_012337.3
p.K43_S44Splc
c.130-60G>A
NM_012337.3
p.R84Q
c.251G>A
NM_012337.3
p.I91fs
c.271_272fs
NM_012337.3
p.I91delFs
c.271delT
NM_012337.3
p.E122D
c.366A>T