Variants

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Gene NameLocationDNA ChangeProtein ChangeReferenceAdmin
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Showing 1 to 28 of 28.
ENG5'UTR c.1-9G>A78Details
ENGExon 01c.35T>Cp.Lys12ProDetails
ENGExon 01c.35T>Gp.Leu12ArgDetails
ENGExon 01c.67delAp.Ser23fsDetails
ENGIntron 01c.68-18C>AUnknown69Details
ENGExon 02c.95T>Ap.Leu32His78Details
ENGExon 02c.179_180CC>AAp.Ala60GluDetails
ENGIntron 02c.219+22C>TUnknown69Details
ENGExon 03c.290T>Gp.Leu97Arg78Details
ENGExon 03c.360C>Tp.Tyr120TyrDetails
ENGIntron 03c.360+5G>CUnknown78Details
ENGIntron 03c.361-113_109delTTCTUnknown69Details
ENGExon 04c.446G>Cp.Try149Ser78Details
ENGExon 04c.494C>Gp.Pro165Arg78Details
ENGExon 05c.580_591delTCGAGTGG ...p.194_197delLeuGluTr ...78Details
ENGExon 05c.614G>Cp.Arg205Pro78Details
ENGExon 05c.659T>Ap.Ile220Asp78Details
ENGExon 05c.659_660delTCinsATp.Ile220Asp78Details
ENGExon 07c.872_883del12p.Lys291_Asp294del78Details
ENGExon 07c.875T>Ap.L292HDetails
ENGExon 07c.899T>Cp.Leu300Pro78Details
ENGExon 08c.1076T>Cp.I359TDetails
ENGExon 08c.1119_1121delGAAp.K374delDetails
ENGExon 09ac.1235G>Ap.Cys412Tyr78Details
ENGExon 11c.1445C>Tp.Ala482Val78Details
ENGExon 11c.1452C>Tp.S484SDetails
ENGExon 11c.1595T>Cp.Phe532Ser78Details
ENGExon 11c.1634G>Ap.Gly545Asp81Details