Papers
RefSeq ID
Protein change
DNA change
1–12 of 198 variants
NM_022742.5
p.D218H
c.652G>C
NM_022742.5
p.E16_E17del0
c.46_51del6
NM_022742.5
p.E22_E23delFs
c.66_67delGG
NM_022742.5
p.G38D
c.113G>A
NM_022742.5
p.N46_L51del6
c.136_152del18
NM_022742.5
p.L66_Q67del0
c.196_201del6
NM_022742.5
p.R187C
c.559C>T
NM_022742.5
p.I196_A201del6
c.586_602del18
NM_022742.5
p.G221G
c.663G>C
NM_022742.5
p.S248C
c.742A>T
NM_022742.5
p.G980R
c.2938G>A
NM_022742.5
p.G980R
c.2938G>C