Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_014906.5
p.S45P
c.133T>C
NM_014906.5
p.P33_E34ins2
c.99_100ins6
NM_014906.5
p.P85R
c.254C>G
NM_014906.5
p.E99_E100ins6
c.295_299ins18
NM_014906.5
p.E44E
c.132G>A
NM_014906.5
p.P47S
c.139C>T
NM_014906.5
p.E48_P49ins2
c.144_145ins6
NM_014906.5
p.E96del1
c.286_287delGAG
NM_014906.5
p.S144_L145ins6
c.430_434ins18
NM_014906.5
p.E407K
c.1219G>A
NM_014906.5
p.E32delFs
c.96delG
NM_014906.5
p.E32E
c.96G>A