Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_198516.3
p.P521delFs
c.1563delG
NM_198516.3
p.R307H
c.920G>A
NM_198516.3
p.E357K
c.1069G>A
NM_198516.3
p.V417I
c.1249G>A
NM_198516.3
p.K8E
c.22A>G
NM_198516.3
p.K56T
c.167A>C
NM_198516.3
p.R65Q
c.194G>A
NM_198516.3
p.E79Splc
c.236-67154G>A
NM_198516.3
p.E79Splc
c.236-9383G>A
NM_198516.3
p.K83N
c.249G>T
NM_198516.3
p.K83N
c.249G>C
NM_198516.3
p.P107P
c.321C>T