Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_020191.4
p.R170H
c.509G>A
NM_020191.4
p.L215P
c.644T>C
NM_020191.4
p.R202H
c.605G>A
NM_020191.4
p.L346fs
c.1036_1037fs
NM_020191.4
p.R135Q
c.404G>A
NM_020191.4
p.T206I
c.617C>T
NM_020191.4
p.L344_T345insFs
c.1032_1035dup4
NM_020191.4
p.M46R
c.137T>G
NM_020191.4
p.E113_A114Splc
c.339+5G>A
NM_020191.4
p.V23L
c.67G>C
NM_020191.4
p.I95L
c.283A>C
NM_020191.4
p.I95L
c.283A>T