Papers
RefSeq ID
Protein change
DNA change
1–12 of 429 variants
NM_006915.3
p.R120*
c.358C>T
NM_006915.3
p.R118H
c.353G>A
NM_006915.3
p.E138G
c.413A>G
NM_006915.3
p.R282W
c.844C>T
NM_006915.3
p.F5_S6del1
c.14_16delTCT
NM_006915.3
p.R118C
c.352C>T
NM_006915.3
p.C86Y
c.257G>A
NM_006915.3
p.L253R
c.758T>G
NM_006915.3
p.I137del1
c.409_410delATT
NM_006915.3
p.Q26*
c.76C>T
NM_006915.3
p.P95L
c.284C>T
NM_006915.3
p.C3S
c.7T>A