Papers
RefSeq ID
Protein change
DNA change
1–12 of 690 variants
NM_199242.3
p.E39_I40Splc
c.118-308C>T
NM_199242.3
p.G863D
c.2588G>A
NM_199242.3
p.R782_E783delFs
c.2346_2349del4
NM_199242.3
p.Q251_D252Splc
c.754-1G>C
NM_199242.3
p.R928C
c.2782C>T
NM_199242.3
p.A59T
c.175G>A
NM_199242.3
p.R256*
c.766C>T
NM_199242.3
p.L532_V533Splc
c.1596+1G>C
NM_199242.3
p.Q251_D252Splc
c.753+1G>T
NM_199242.3
p.K867E
c.2599A>G
NM_199242.3
p.K20M
c.59A>T
NM_199242.3
p.R411Q
c.1232G>A