Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_014285.7
p.G198D
c.593G>A
NM_014285.7
p.G30V
c.89G>T
NM_014285.7
p.E224_P225Splc
c.673-1G>T
NM_014285.7
p.P8A
c.22C>G
NM_014285.7
p.L14P
c.41T>C
NM_014285.7
p.G58V
c.173G>T
NM_014285.7
p.R87Q
c.260G>A
NM_014285.7
p.A143T
c.427G>A
NM_014285.7
p.R236Q
c.707G>A
NM_014285.7
p.M1I
c.3G>A
NM_014285.7
p.M1I
c.3G>C
NM_014285.7
p.M1I
c.3G>T