Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_001136234.3
p.P518A
c.1552C>G
NM_001136234.3
p.A516P
c.1546G>C
NM_001136234.3
p.L167_R168delFs
c.499_502del4
NM_001136234.3
p.Q186E
c.556C>G
NM_001136234.3
p.I499_A502del4
c.1495_1505del12
NM_001136234.3
p.I499_A502del0
c.1497_1505del9
NM_001136234.3
p.A512_A517del0
c.1534_1551del18
NM_001136234.3
p.P520A
c.1558C>G
NM_001136234.3
p.A525ins4
c.1574_1575ins12
NM_001136234.3
p.A526P
c.1576G>C
NM_001136234.3
p.P544_P552del0
c.1631_1654del24
NM_001136234.3
p.I15I
c.45C>T