Papers
RefSeq ID
Protein change
DNA change
1–12 of 172 variants
NM_006839.3
p.P124S
c.370C>T
NM_006839.3
p.Q6fs
c.16_17fs
NM_006839.3
p.R31C
c.91C>T
NM_006839.3
p.G40Splc
c.120-1G>A
NM_006839.3
p.I46I
c.138T>A
NM_006839.3
p.G50D
c.149G>A
NM_006839.3
p.T61I
c.182C>T
NM_006839.3
p.T78_Y81del0
c.234_242del9
NM_006839.3
p.M88_V89del1
c.263_265delCCA
NM_006839.3
p.P98L
c.293C>T
NM_006839.3
p.S103S
c.309G>A
NM_006839.3
p.G107S
c.319G>A