Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_133638.6
p.S373G
c.1117A>G
NM_133638.6
p.R662*
c.1984C>T
NM_133638.6
p.A198_V199ins2
c.594_595ins6
NM_133638.6
p.L360I
c.1078T>A
NM_133638.6
p.C594_T595ins6
c.1780_1784ins18
NM_133638.6
p.E1089V
c.3266A>T
NM_133638.6
p.R38G
c.112C>G
NM_133638.6
p.G246*
c.736G>T
NM_133638.6
p.G1039S
c.3115G>A
NM_133638.6
p.E6K
c.16G>A
NM_133638.6
p.L18_G22delFs
c.54_64del11
NM_133638.6
p.E39*
c.115G>T