Papers
RefSeq ID
Protein change
DNA change
1–12 of 210 variants
NM_002929.3
p.V380D
c.1139T>A
NM_002929.3
p.D537_G538delFs
c.1610_1613del4
NM_002929.3
p.P391H
c.1172C>A
NM_002929.3
p.D537fs
c.1609_1610fs
NM_002929.3
p.S205*
c.614C>A
NM_002929.3
p.L308P
c.923T>C
NM_002929.3
p.R19*
c.55C>T
NM_002929.3
p.L157P
c.470T>C
NM_002929.3
p.L196L
c.588A>G
NM_002929.3
p.V10A
c.29T>C
NM_002929.3
p.E48_S49delFs
c.142_145del4
NM_002929.3
p.Q142_L145del4
c.424_434del12