Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_001805.4
p.V218A
c.653T>C
NM_001805.4
p.R219H
c.656G>A
NM_001805.4
p.R135*
c.403C>T
NM_001805.4
p.L155M
c.463C>A
NM_001805.4
p.R249H
c.746G>A
NM_001805.4
p.Y6C
c.17A>G
NM_001805.4
p.E19Q
c.55G>C
NM_001805.4
p.C34S
c.100T>A
NM_001805.4
p.C34S
c.101G>C
NM_001805.4
p.D56N
c.166G>A
NM_001805.4
p.P83_P85delFs
c.249_253del5
NM_001805.4
p.K170_A171insFs
c.510_511insA