Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_012092.4
p.G20Splc
c.58+173T>C
NM_012092.4
p.F108_L111delFs
c.323_332del10
NM_012092.4
p.V151L
c.451G>C
NM_012092.4
p.V17I
c.49G>A
NM_012092.4
p.G20Splc
c.58+1G>A
NM_012092.4
p.M30delFs
c.90delG
NM_012092.4
p.F95delFs
c.285delT
NM_012092.4
p.F119S
c.356T>C
NM_012092.4
p.T19I
c.56C>T
NM_012092.4
p.G59insFs
c.177dupG
NM_012092.4
p.G58G
c.174G>C
NM_012092.4
p.T68_K69insFs
c.204_205insA