g.169952413T>Cg.169952413T>C
c.1504A>Gc.1504A>G
p.Ile502Val (Splice)p.Ile502Val (Splice)
benignbenign
g.170007430C>Ag.170007430C>A
c.517+1G>Tc.517+1G>T
p.E173_splicep.E173_splice
damagingdamaging