Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_207469.3
p.K2_F3del1
c.6_8delGTT
NM_207469.3
p.L6_L8del3
c.16_23del9
NM_207469.3
p.L6_L8del0
c.17_22del6
NM_207469.3
p.V93I
c.277G>A
NM_207469.3
p.Q90H
c.270A>C
NM_207469.3
p.*96S
c.287A>C
NM_207469.3
p.M1K
c.2T>A
NM_207469.3
p.M1_K2del1
c.3_5delGAA
NM_207469.3
p.F3_L5del3
c.7_14del9
NM_207469.3
p.V7L
c.19G>C
NM_207469.3
p.A20Splc
c.58+1G>A
NM_207469.3
p.A20Splc
c.59-33C>T