Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_198471.3
p.G163_G165delFs
c.489_493del5
NM_198471.3
p.D489_E493del0
c.1467_1478del12
NM_198471.3
p.D489_E493del5
c.1465_1478del15
NM_198471.3
p.E674_D675del1
c.2022_2024delTCC
NM_198471.3
p.R359H
c.1076G>A
NM_198471.3
p.Q184R
c.551A>G
NM_198471.3
p.L225delFs
c.674_675delCA
NM_198471.3
p.D288Y
c.862G>T
NM_198471.3
p.R375R
c.1125G>A
NM_198471.3
p.E610K
c.1828G>A
NM_198471.3
p.E674_D675del2
c.2020_2024del6
NM_198471.3
p.R746W
c.2236C>T