Papers
RefSeq ID
Protein change
DNA change
1–12 of 563 variants
NM_015443.4
p.K104T
c.311A>C
NM_015443.4
p.L270delFs
c.808_809delAG
NM_015443.4
p.S718P
c.2152T>C
NM_015443.4
p.N225D
c.673A>G
NM_015443.4
p.R348*
c.1042C>T
NM_015443.4
p.T551Splc
c.1652+1G>A
NM_015443.4
p.I1085T
c.3254T>C
NM_015443.4
p.L270fs
c.808_809fs
NM_015443.4
p.R606*
c.1816C>T
NM_015443.4
p.S808_S809del2
c.2422_2426del6
NM_015443.4
p.M205fs
c.613_614fs
NM_015443.4
p.K180fs
c.538_539fs