Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_001378477.3
p.A29_E36del0
c.85_108del24
NM_001378477.3
p.L184P
c.551T>C
NM_001378477.3
p.E36_R37del0
c.106_111del6
NM_001378477.3
p.L48L
c.144C>G
NM_001378477.3
p.R106_R111del6
c.316_332del18
NM_001378477.3
p.A16_C22delFs
c.48_64del17
NM_001378477.3
p.V41delFs
c.121delG
NM_001378477.3
p.R50P
c.149G>C
NM_001378477.3
p.S61insFs
c.182_183insT
NM_001378477.3
p.L112P
c.335T>C
NM_001378477.3
p.A113_L118del0
c.339_353del15
NM_001378477.3
p.R124_F126delFs
c.371_377del7