Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_007242.7
p.R372G
c.1114A>G
NM_007242.7
p.K144Q
c.430A>C
NM_007242.7
p.L8P
c.23T>C
NM_007242.7
p.V10A
c.29T>C
NM_007242.7
p.A17delFs
c.50delC
NM_007242.7
p.K26R
c.77A>G
NM_007242.7
p.K29R
c.86A>G
NM_007242.7
p.K31R
c.92A>G
NM_007242.7
p.E50del1
c.148_149delGAA
NM_007242.7
p.L70F
c.208C>T
NM_007242.7
p.V71D
c.212T>A
NM_007242.7
p.V77L
c.229G>T