Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_017640.6
p.G1202S
c.3604G>A
NM_017640.6
p.P9ins2
c.26_27ins6
NM_017640.6
p.E14Splc
c.40+5G>T
NM_017640.6
p.I26_S27ins6
c.76_80ins18
NM_017640.6
p.V28A
c.83T>C
NM_017640.6
p.K40fs
c.118_119fs
NM_017640.6
p.L46_V47Splc
c.139-24621A>G
NM_017640.6
p.V47V
c.141C>G
NM_017640.6
p.R59R
c.175C>A
NM_017640.6
p.T67P
c.199A>C
NM_017640.6
p.V77I
c.229G>A
NM_017640.6
p.S94C
c.281C>G