Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_024915.4
p.Y398H
c.1192T>C
NM_024915.4
p.N7Splc
c.20+544G>T
NM_024915.4
p.I482K
c.1445T>A
NM_024915.4
p.R537insFs
c.1609dupC
NM_024915.4
p.T45delFs
c.133delA
NM_024915.4
p.K419_G420Splc
c.1258-1G>A
NM_024915.4
p.Q445R
c.1334A>G
NM_024915.4
p.R537insFs
c.1610_1611insC
NM_024915.4
p.V415I
c.1243G>A
NM_024915.4
p.R426*
c.1276C>T
NM_024915.4
p.R75*
c.223C>T
NM_024915.4
p.Q313insFs
c.937dupC