Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_003730.6
p.S78*
c.233C>A
Surrounding Variants
NM_003730.6
p.H65R
c.194A>G
NM_003730.6
p.H65P
c.194A>C
NM_003730.6
p.K50_I64del15
c.148_191del45
NM_003730.6
p.K87_D88Splc
c.262-2A>G
NM_003730.6
p.L89F
c.265C>T
NM_003730.6
p.D88_E92delFs
c.262_274del13
NM_003730.6
p.I101N
c.302T>A
NM_003730.6
p.R109G
c.325C>G
NM_003730.6
p.E49_K50Splc
c.147+3G>A
NM_003730.6
p.E49V
c.146A>T
NM_003730.6
p.E49*
c.145G>T
NM_003730.6
p.W43C
c.129G>T