Papers
RefSeq ID
Protein change
DNA change
NM_003765.3
p.R227*
c.679C>T
NM_003765.3
p.G69Splc
c.206-4C>G
NM_003765.3
p.E72_A73insFs
c.216_217insA
NM_003765.3
p.L85P
c.254T>C
NM_003765.3
p.F91F
c.273C>T
NM_003765.3
p.E121_I122Splc
c.363+14A>C
NM_003765.3
p.D135N
c.403G>A
NM_003765.3
p.L136L
c.406C>T
NM_003765.3
p.L136M
c.406C>A
NM_003765.3
p.S140I
c.419G>T
NM_003765.3
p.Q153_A154insFs
c.459_460insT
NM_003765.3
p.L246delFs
c.736delG