Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_080632.3
p.Y160D
c.478T>G
NM_080632.3
p.R430*
c.1288C>T
NM_080632.3
p.K289_G290delFs
c.867_868delCT
NM_080632.3
p.G290fs
c.868_869fs
NM_080632.3
p.R225fs
c.673_674fs
NM_080632.3
p.R255K
c.764G>A
NM_080632.3
p.R368Q
c.1103G>A
NM_080632.3
p.R225_K226delFs
c.674_677del4
NM_080632.3
p.R233fs
c.697_698fs
NM_080632.3
p.E364_R365delFs
c.1091_1094del4
NM_080632.3
p.R379H
c.1136G>A
NM_080632.3
p.Q40*
c.118C>T