Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_004204.5
p.Y400del1
c.1198_1199delTAC
NM_004204.5
p.R230Splc
c.690-2A>G
NM_004204.5
p.G17R
c.49G>A
NM_004204.5
p.G17R
c.49G>C
NM_004204.5
p.D314_H315Splc
c.942+1G>A
NM_004204.5
p.L323fs
c.967_968fs
NM_004204.5
p.T14A
c.40A>G
NM_004204.5
p.R207*
c.619C>T
NM_004204.5
p.R502Q
c.1505G>A
NM_004204.5
p.W557delFs
c.1670delG
NM_004204.5
p.E108K
c.322G>A
NM_004204.5
p.R230Splc
c.690-5C>G