Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001319.7
p.V173L
c.517G>C
NM_001319.7
p.V173L
c.517G>T
NM_001319.7
p.L279L
c.837C>T
NM_001319.7
p.G63Splc
c.187+63C>T
NM_001319.7
p.G63Splc
c.188-33C>T
NM_001319.7
p.L76_E77Splc
c.228+53G>C
NM_001319.7
p.L149_I150Splc
c.447+47C>T
NM_001319.7
p.D306N
c.916G>A
NM_001319.7
p.T355A
c.1063A>G
NM_001319.7
p.K398Splc
c.1193+65G>A
NM_001319.7
p.T12_E13delFs
c.35_39del5
NM_001319.7
p.T35_V39del5
c.103_116del15