Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_001134382.3
p.P626S
c.1876C>T
NM_001134382.3
p.R321Q
c.962G>A
NM_001134382.3
p.T343M
c.1028C>T
NM_001134382.3
p.S618Splc
c.1854-5C>T
NM_001134382.3
p.P993fs
c.2977_2978fs
NM_001134382.3
p.P993delFs
c.2978delG
NM_001134382.3
p.P1020L
c.3059C>T
NM_001134382.3
p.E12K
c.34G>A
NM_001134382.3
p.E17K
c.49G>A
NM_001134382.3
p.L33W
c.98T>G
NM_001134382.3
p.G36S
c.106G>A
NM_001134382.3
p.G50delFs
c.150delT