Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001286077.2
p.G71R
c.211G>C
NM_001286077.2
p.S225L
c.674C>T
NM_001286077.2
p.T229M
c.686C>T
NM_001286077.2
p.E8E
c.24G>A
NM_001286077.2
p.R17fs
c.49_50fs
NM_001286077.2
p.P16delFs
c.48delG
NM_001286077.2
p.R19R
c.57C>T
NM_001286077.2
p.I32N
c.95T>A
NM_001286077.2
p.D44N
c.130G>A
NM_001286077.2
p.E50K
c.148G>A
NM_001286077.2
p.H58R
c.173A>G
NM_001286077.2
p.S67*
c.200C>G