Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_130769.4
p.E25K
c.73G>A
NM_130769.4
p.T39delFs
c.116_117delTG
NM_130769.4
p.Q49*
c.145C>T
NM_130769.4
p.S51C
c.152C>G
NM_130769.4
p.A118T
c.352G>A
NM_130769.4
p.A116_R117del2
c.346_350del6
NM_130769.4
p.M1delFs
c.3delC
NM_130769.4
p.A4T
c.10G>A
NM_130769.4
p.V10insFs
c.29_30ins4
NM_130769.4
p.W22delFs
c.66delC
NM_130769.4
p.E25A
c.74A>C
NM_130769.4
p.P35Splc
c.104-23A>T