Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
NM_018283.4
p.R139C
c.415C>T
NM_018283.4
p.V18I
c.52G>A
NM_018283.4
p.R139H
c.416G>A
NM_018283.4
p.P12_G13ins2
c.36_37ins6
NM_018283.4
p.G36_S37ins6
c.106_110ins18
NM_018283.4
p.R34T
c.101G>C
NM_018283.4
p.K35E
c.103A>G
NM_018283.4
p.T55_W56ins6
c.163_167ins18
NM_018283.4
p.G13_V14del0
c.37_42del6
NM_018283.4
p.G47R
c.139G>A
NM_018283.4
p.G47R
c.139G>C
NM_018283.4
p.M1T
c.2T>C