Papers
RefSeq ID
Protein change
DNA change
1–12 of 259 variants
NM_001250.6
p.C103Y
c.308G>A
NM_001250.6
p.P227A
c.679C>G
NM_001250.6
p.N86Splc
c.256+2T>C
NM_001250.6
p.C83R
c.247T>C
NM_001250.6
p.T136T
c.408A>T
NM_001250.6
p.T57M
c.170C>T
NM_001250.6
p.M1I
c.3G>A
NM_001250.6
p.S65T
c.194G>C
NM_001250.6
p.G12D
c.35G>A
NM_001250.6
p.I33del1
c.97_98delATA
NM_001250.6
p.C37G
c.109T>G
NM_001250.6
p.C62S
c.184T>A