Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001135181.2
p.P512_G513Splc
c.1536+1G>A
Surrounding Variants
NM_001011547.3
p.I460S
c.1379T>G
NM_001011547.3
p.F457F
c.1371C>T
NM_001011547.3
p.G498R
c.1492G>A
NM_001011547.3
p.G516R
c.1546G>A
NM_001011547.3
p.G516R
c.1546G>C
NM_001011547.3
p.R431Splc
c.1292+124T>C
NM_001011547.3
p.R418C
c.1252C>T
NM_001011547.3
p.V389M
c.1165G>A
NM_001011547.3
p.Y370fs
c.1108_1109fs
NM_001011547.3
p.D345Splc
c.1034-8T>C
NM_001011547.3
p.T561K
c.1682C>A
NM_001011547.3
p.E593*
c.1777G>T