Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_004373.4
p.M1K
c.2T>A
NM_004373.4
p.S8L
c.23C>T
NM_004373.4
p.R11W
c.31C>T
NM_004373.4
p.R15R
c.45G>A
NM_004373.4
p.A35fs
c.103_104fs
NM_004373.4
p.M37R
c.110T>G
NM_004373.4
p.F43L
c.127T>C
NM_004373.4
p.P48_V50delFs
c.144_150del7
NM_004373.4
p.H62Y
c.184C>T
NM_004373.4
p.H76Y
c.226C>T
NM_004373.4
p.H95N
c.283C>A
NM_004373.4
p.H98Y
c.292C>T