Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_199242.3
p.I40I
c.120C>A
Surrounding Variants
NM_199242.3
p.H46insFs
c.137_138insT
NM_199242.3
p.H45_H46insFs
c.135_136insC
NM_199242.3
p.S48C
c.143C>G
NM_199242.3
p.E50Q
c.148G>C
NM_199242.3
p.E50K
c.148G>A
NM_199242.3
p.E50delFs
c.150delC
NM_199242.3
p.Q51_R52Splc
c.153+1G>A
NM_199242.3
p.Q51_R52Splc
c.153+67C>T
NM_199242.3
p.E39_I40Splc
c.118-176G>C
NM_199242.3
p.E39_I40Splc
c.117+525G>T
NM_199242.3
p.E39_I40Splc
c.118-208C>T
NM_199242.3
p.Q51_R52Splc
c.154-19G>A