Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001136049.3
p.A2A
c.6G>A
NM_001136049.3
p.G6insFs
c.17_18insT
NM_001136049.3
p.G15fs
c.43_44fs
NM_001136049.3
p.R18_S19insFs
c.54_55insA
NM_001136049.3
p.S26C
c.77C>G
NM_001136049.3
p.R30P
c.89G>C
NM_001136049.3
p.D63G
c.188A>G
NM_001136049.3
p.E65_V66insFs
c.195_196insT
NM_001136049.3
p.R87*
c.259A>T
NM_001136049.3
p.E97G
c.290A>G
NM_001136049.3
p.L99_L100delFs
c.297_298delGC
NM_001136049.3
p.K104K
c.312G>A