Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001006634.3
p.R510Q
c.1529G>A
NM_001006634.3
p.P543delFs
c.1628delG
NM_001006634.3
p.Q814fs
c.2440_2441fs
NM_001006634.3
p.N13N
c.39C>T
NM_001006634.3
p.T15A
c.43A>G
NM_001006634.3
p.R18*
c.52A>T
NM_001006634.3
p.R35H
c.104G>A
NM_001006634.3
p.R40W
c.118C>T
NM_001006634.3
p.S41S
c.123A>G
NM_001006634.3
p.A52T
c.154G>A
NM_001006634.3
p.A62A
c.186C>T
NM_001006634.3
p.G163R
c.487G>C