Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_004798.4
p.A334T
c.1000G>A
NM_004798.4
p.L523P
c.1568T>C
NM_004798.4
p.E168K
c.502G>A
NM_004798.4
p.E250Q
c.748G>C
NM_004798.4
p.R293W
c.877C>T
NM_004798.4
p.V324I
c.970G>A
NM_004798.4
p.R356*
c.1066C>T
NM_004798.4
p.E395del1
c.1183_1185delGAG
NM_004798.4
p.R654*
c.1960C>T
NM_004798.4
p.M1insFs
c.2_3insT
NM_004798.4
p.S2_K3insT
c.4_8ins3
NM_004798.4
p.V10L
c.28G>C