Papers
RefSeq ID
Protein change
DNA change
NM_014035.4
p.R103*
c.307C>T
NM_014035.4
p.S7A
c.19T>G
NM_014035.4
p.K48_L49Splc
c.144+90G>C
NM_014035.4
p.V67I
c.199G>A
NM_014035.4
p.Q73L
c.218A>T
NM_014035.4
p.S126N
c.377G>A
NM_014035.4
p.S126Splc
c.377+1G>T
NM_014035.4
p.H130P
c.389A>C
NM_014035.4
p.P132L
c.395C>T
NM_014035.4
p.D148Splc
c.443-3C>T