Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_178563.4
p.Y189D
c.565T>G
NM_178563.4
p.R70C
c.208C>T
NM_178563.4
p.T552M
c.1655C>T
NM_178563.4
p.M1K
c.2T>A
NM_178563.4
p.S21_D22Splc
c.63+2T>G
NM_178563.4
p.S21_D22Splc
c.64-2A>G
NM_178563.4
p.S31T
c.92G>C
NM_178563.4
p.R36Q
c.107G>A
NM_178563.4
p.R52fs
c.154_155fs
NM_178563.4
p.R52W
c.154C>T
NM_178563.4
p.Q61R
c.182A>G
NM_178563.4
p.L62L
c.184C>T