Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001288740.3
p.A37V
c.110C>T
NM_001288740.3
p.K86N
c.258G>T
NM_001288740.3
p.K86N
c.258G>C
NM_001288740.3
p.D15Splc
c.43+63G>A
NM_001288740.3
p.D33Splc
c.97+4C>T
NM_001288740.3
p.Y36fs
c.106_107fs
NM_001288740.3
p.Y36delFs
c.108delG
NM_001288740.3
p.I39M
c.117C>G
NM_001288740.3
p.D67H
c.199G>C
NM_001288740.3
p.I82M
c.246C>G
NM_001288740.3
p.P83T
c.247C>A
NM_001288740.3
p.R90Splc
c.270-1G>A