Papers
RefSeq ID
Protein change
DNA change
1–12 of 148 variants
NM_015585.4
p.R283*
c.847C>T
NM_015585.4
p.L48Splc
c.144-2A>G
NM_015585.4
p.R568W
c.1702C>T
NM_015585.4
p.L48Splc
c.143+5G>A
NM_015585.4
p.I151delFs
c.451_452delAT
NM_015585.4
p.V369I
c.1105G>A
NM_015585.4
p.D451_L452del2
c.1351_1355del6
NM_015585.4
p.R552C
c.1654C>T
NM_015585.4
p.R552H
c.1655G>A
NM_015585.4
p.G556R
c.1666G>A
NM_015585.4
p.D971N
c.2911G>A
NM_015585.4
p.R1088Q
c.3263G>A