Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_002509.4
p.P119fs
c.355_356fs
NM_002509.4
p.R129*
c.385C>T
NM_002509.4
p.A42T
c.124G>A
NM_002509.4
p.A45T
c.133G>A
NM_002509.4
p.M1I
c.3G>A
NM_002509.4
p.S11L
c.32C>T
NM_002509.4
p.D14Y
c.40G>T
NM_002509.4
p.E34K
c.100G>A
NM_002509.4
p.A52S
c.154G>T
NM_002509.4
p.Q57K
c.169C>A
NM_002509.4
p.L87_L90delFs
c.260_270del11
NM_002509.4
p.E110Q
c.328G>C