Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_001017980.4
p.G55Splc
c.164-7T>G
NM_001017980.4
p.G91A
c.272G>C
NM_001017980.4
p.G55Splc
c.163+4A>G
NM_001017980.4
p.R18Splc
c.54-27A>C
NM_001017980.4
p.G55Splc
c.164-6T>G
NM_001017980.4
p.R18Splc
c.54-27A>T
NM_001017980.4
p.L9delins
c.27delinsT
NM_001017980.4
p.G55Splc
c.163+3A>G
NM_001017980.4
p.R93*
c.277C>T
NM_001017980.4
p.G98G
c.294C>T
NM_001017980.4
p.R18G
c.52A>G
NM_001017980.4
p.P4S
c.10C>T