Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_172095.4
p.S393Splc
c.1179-2A>T
NM_172095.4
p.R21H
c.62G>A
NM_172095.4
p.V57I
c.169G>A
NM_172095.4
p.V148G
c.443T>G
NM_172095.4
p.S393Splc
c.1179-8T>C
NM_172095.4
p.S393Splc
c.1179-3A>C
NM_172095.4
p.R513H
c.1538G>A
NM_172095.4
p.M1insFs
c.2dupT
NM_172095.4
p.R14*
c.40C>T
NM_172095.4
p.I29S
c.86T>G
NM_172095.4
p.H31L
c.92A>T
NM_172095.4
p.H42Y
c.124C>T