Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_138785.5
p.K247E
c.739A>G
NM_138785.5
p.Q40_D41Splc
c.121-85T>G
NM_138785.5
p.T49S
c.145A>T
NM_138785.5
p.I56T
c.167T>C
NM_138785.5
p.L101L
c.301T>C
NM_138785.5
p.S126C
c.376A>T
NM_138785.5
p.E151*
c.451G>T
NM_138785.5
p.R163T
c.488G>C
NM_138785.5
p.N166K
c.498C>A
NM_138785.5
p.N166K
c.498C>G
NM_138785.5
p.E196Splc
c.586+80T>G
NM_138785.5
p.P234T
c.700C>A