Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001001548.3
p.Q41K
c.121C>A
Surrounding Variants
NM_001001548.3
p.K40_Q41Splc
c.121-1G>A
NM_001001548.3
p.K40_Q41Splc
c.121-2A>G
NM_001001548.3
p.V43L
c.127G>C
NM_001001548.3
p.K40_Q41Splc
c.121-6T>C
NM_001001548.3
p.L44L
c.132C>T
NM_001001548.3
p.E45Q
c.133G>C
NM_001001548.3
p.E46Q
c.136G>C
NM_001001548.3
p.E46insFs
c.136_137ins4
NM_001001548.3
p.E46G
c.137A>G
NM_001001548.3
p.T48K
c.143C>A
NM_001001548.3
p.T48_I49insFs
c.144_145ins4
NM_001001548.3
p.K52delFs
c.154delA