Papers
RefSeq ID
Protein change
DNA change
1–12 of 180 variants
NM_014704.4
p.L414I
c.1240T>A
NM_014704.4
p.R166*
c.496C>T
NM_014704.4
p.K245_V246Splc
c.735+2T>C
NM_014704.4
p.A686V
c.2057C>T
NM_014704.4
p.I240T
c.719T>C
NM_014704.4
p.Y253*
c.759T>G
NM_014704.4
p.Y253*
c.759T>A
NM_014704.4
p.A443insFs
c.1328_1329insT
NM_014704.4
p.Y444fs
c.1330_1331fs
NM_014704.4
p.E857_A858Splc
c.2572-2A>G
NM_014704.4
p.Q335*
c.1003C>T
NM_014704.4
p.Q788_V789Splc
c.2364+1G>A