Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001168243.4
p.P17L
c.50C>T
NM_001168243.4
p.M1T
c.2T>C
NM_001168243.4
p.C7W
c.21C>G
NM_001168243.4
p.P17ins1
c.50_51insGCT
NM_001168243.4
p.L20Q
c.59T>A
NM_001168243.4
p.S39C
c.115A>T
NM_001168243.4
p.P47T
c.139C>A
NM_001168243.4
p.P47Q
c.140C>A
NM_001168243.4
p.D50insFs
c.148_149insTG
NM_001168243.4
p.D50_C51insGCT
c.148_152ins9
NM_001168243.4
p.D50ins1
c.149_150insGCT
NM_001168243.4
p.Q62_R65delFs
c.186_193del8