Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001136501.3
p.V329A
c.986T>C
NM_001136501.3
p.C339_K340insFs
c.1017_1018insA
NM_001136501.3
p.F487L
c.1459T>C
NM_001136501.3
p.F487L
c.1461T>A
NM_001136501.3
p.F487L
c.1461T>G
NM_001136501.3
p.P503R
c.1508C>G
NM_001136501.3
p.N266S
c.797A>G
NM_001136501.3
p.G412E
c.1235G>A
NM_001136501.3
p.E467*
c.1399G>T
NM_001136501.3
p.H514D
c.1540C>G
NM_001136501.3
p.M1delins
c.1_3delinsATGATG
NM_001136501.3
p.M1_D2Splc
c.3+6T>A