Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_014698.3
p.G567S
c.1699G>A
NM_014698.3
p.I462N
c.1385T>A
NM_014698.3
p.G168E
c.503G>A
NM_014698.3
p.G553V
c.1658G>T
NM_014698.3
p.Y559H
c.1675T>C
NM_014698.3
p.Q775del1
c.2323_2324delCTG
NM_014698.3
p.D259delFs
c.775delC
NM_014698.3
p.S538L
c.1613C>T
NM_014698.3
p.V622M
c.1864G>A
NM_014698.3
p.L111_G112Splc
c.334-2A>G
NM_014698.3
p.N190H
c.568A>C
NM_014698.3
p.L206F
c.616C>T