Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_212552.3
p.G57Splc
c.170-10T>A
Surrounding Variants
NM_212552.3
p.C59Y
c.176G>A
NM_212552.3
p.A61T
c.181G>A
NM_212552.3
p.I67V
c.199A>G
NM_212552.3
p.I67N
c.200T>A
NM_212552.3
p.E74del1
c.220_221delCTC
NM_212552.3
p.K75N
c.225G>T
NM_212552.3
p.K75fs
c.223_224fs
NM_212552.3
p.K75N
c.225G>C
NM_212552.3
p.K75_T77delFs
c.225_229del5
NM_212552.3
p.K75_T77del3
c.223_230del9
NM_212552.3
p.Q80H
c.240G>T
NM_212552.3
p.Q80H
c.240G>C