Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001129998.3
p.K188_D189Splc
c.564+2T>G
Surrounding Variants
NM_001129998.3
p.I182T
c.545T>C
NM_001129998.3
p.E161V
c.482A>T
NM_001129998.3
p.D137Splc
c.410-8C>G
NM_001129998.3
p.S210F
c.629C>T
NM_001129998.3
p.G212D
c.635G>A
NM_001129998.3
p.R213*
c.637A>T
NM_001129998.3
p.L227Splc
c.680+6T>A
NM_001129998.3
p.K126fs
c.376_377fs
NM_001129998.3
p.K126delFs
c.376_377delAA
NM_001129998.3
p.Q122K
c.364C>A
NM_001129998.3
p.V116L
c.346G>C
NM_001129998.3
p.V116L
c.346G>T