Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_145313.4
p.A454T
c.1360G>A
NM_145313.4
p.M1K
c.2T>A
NM_145313.4
p.P2R
c.5C>G
NM_145313.4
p.R27H
c.80G>A
NM_145313.4
p.K116E
c.346A>G
NM_145313.4
p.E135*
c.403G>T
NM_145313.4
p.A143S
c.427G>T
NM_145313.4
p.A204T
c.610G>A
NM_145313.4
p.V211M
c.631G>A
NM_145313.4
p.V211G
c.632T>G
NM_145313.4
p.S232R
c.694A>C
NM_145313.4
p.S232R
c.696C>G