Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_000713.3
p.S111L
c.332C>T
NM_000713.3
p.S142_G143delFs
c.424_427del4
NM_000713.3
p.R46Q
c.137G>A
NM_000713.3
p.A7A
c.21G>T
NM_000713.3
p.Q14R
c.41A>G
NM_000713.3
p.L33R
c.98T>G
NM_000713.3
p.H49N
c.145C>A
NM_000713.3
p.P152S
c.454C>T
NM_000713.3
p.M1I
c.3G>T
NM_000713.3
p.M1_A2insFs
c.3_4insT
NM_000713.3
p.M1I
c.3G>A
NM_000713.3
p.V3I
c.7G>A