Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001134442.3
p.E243A
c.728A>C
NM_001134442.3
p.Q174R
c.521A>G
NM_001134442.3
p.T184A
c.550A>G
NM_001134442.3
p.K25R
c.74A>G
NM_001134442.3
p.L28P
c.83T>C
NM_001134442.3
p.C61Y
c.182G>A
NM_001134442.3
p.E66K
c.196G>A
NM_001134442.3
p.P94S
c.280C>T
NM_001134442.3
p.P95fs
c.283_284fs
NM_001134442.3
p.S112S
c.336A>T
NM_001134442.3
p.R119S
c.357G>C
NM_001134442.3
p.R119S
c.357G>T