Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_001105562.3
p.P276S
c.826C>T
NM_001105562.3
p.R329W
c.985C>T
NM_001105562.3
p.A444fs
c.1330_1331fs
NM_001105562.3
p.N722S
c.2165A>G
NM_001105562.3
p.S101L
c.302C>T
NM_001105562.3
p.R329Q
c.986G>A
NM_001105562.3
p.A357T
c.1069G>A
NM_001105562.3
p.R480Splc
c.1439+1G>C
NM_001105562.3
p.S613*
c.1838C>A
NM_001105562.3
p.S613*
c.1838C>G
NM_001105562.3
p.Q696*
c.2086C>T
NM_001105562.3
p.R825W
c.2473C>T