Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_178537.5
p.L22del1
c.64_65delCTG
NM_178537.5
p.A67V
c.200C>T
NM_178537.5
p.L42_Q44del3
c.124_131del9
NM_178537.5
p.A99fs
c.295_296fs
NM_178537.5
p.G221A
c.662G>C
NM_178537.5
p.F426Y
c.1277T>A
NM_178537.5
p.G641R
c.1921G>A
NM_178537.5
p.G641R
c.1921G>C
NM_178537.5
p.E795E
c.2385A>G
NM_178537.5
p.G991fs
c.2971_2972fs
NM_178537.5
p.V1028I
c.3082G>A
NM_178537.5
p.P5delFs
c.14_15delCG