g.248525381C>Gg.248525381C>G
c.499C>Gc.499C>G
p.Leu167Valp.Leu167Val
probably damagingprobably damaging
g.248524992A>Gg.248524992A>G
c.110A>Gc.110A>G
p.Asn37Serp.Asn37Ser
benignbenign
g.248525267_248525268ins58g.248525267_248525268ins58
c.385_386insTGTGGGATGCAGATGTTCCTCTATCTGACACTAGCAGGTTCAGAATTTTTCCTTCTAGc.385_386insTGTGGGATGCAGATGTTCCTCTATCTGACACTAGCAGGTTCAGAATTTTTCCTTCTAG
p.Cys129LeufsX44p.Cys129LeufsX44
damagingdamaging