Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_006137.7
p.Y58_Q61delFs
c.172_181del10
NM_006137.7
p.D172_A181del10
c.514_542del30
NM_006137.7
p.A167G
c.500C>G
NM_006137.7
p.D172_A181del0
c.515_541del27
NM_006137.7
p.A201V
c.602C>T
NM_006137.7
p.M1T
c.2T>C
NM_006137.7
p.M1I
c.3G>A
NM_006137.7
p.L10delFs
c.28delG
NM_006137.7
p.R18S
c.52C>A
NM_006137.7
p.A23T
c.67G>A
NM_006137.7
p.G22delFs
c.65_66delCC
NM_006137.7
p.E28Splc
c.83-1G>A