Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_144999.4
p.M1L
c.1A>T
NM_144999.4
p.I266T
c.797T>C
NM_144999.4
p.L358_L359insFs
c.1074_1075insTG
NM_144999.4
p.A365V
c.1094C>T
NM_144999.4
p.Q375_V376Splc
c.1126-1G>A
NM_144999.4
p.R480H
c.1439G>A
NM_144999.4
p.Q25_Q26insFs
c.75_76insTG
NM_144999.4
p.V64F
c.190G>T
NM_144999.4
p.S66delFs
c.197delG
NM_144999.4
p.S66fs
c.196_197fs
NM_144999.4
p.L79F
c.235C>T
NM_144999.4
p.K94_G95Splc
c.282+2T>C