Papers
RefSeq ID
Protein change
DNA change
1–12 of 402 variants
NM_002430.3
p.E1184Q
c.3550G>C
NM_002430.3
p.R1295*
c.3883C>T
NM_002430.3
p.S672L
c.2015C>T
NM_002430.3
p.Q524del1
c.1570_1571delCTG
NM_002430.3
p.G81A
c.242G>C
NM_002430.3
p.Q294*
c.880C>T
NM_002430.3
p.P449R
c.1346C>G
NM_002430.3
p.Q533ins1
c.1598_1599insGCA
NM_002430.3
p.V595M
c.1783G>A
NM_002430.3
p.G752fs
c.2254_2255fs
NM_002430.3
p.T1244fs
c.3730_3731fs
NM_002430.3
p.L1245fs
c.3733_3734fs