Variants

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Gene NameLocationDNA ChangeProtein ChangeReferenceAdmin
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Showing 1 to 29 of 29.
ACVRL1Exon 03c.77C>Tp.Pro26LeuDetails
ACVRL1Exon 03c.208G>Ap.Gly70ArgDetails
ACVRL1Exon 03c.214_219delTTGCACp.72_73delLeuHisDetails
ACVRL1Exon 03c.259C>Gp.H87DDetails
ACVRL1Exon 03c.263A>GTyr88Cys78Details
ACVRL1Exon 04c.500C>Gp.Ser167Cys78Details
ACVRL1Intron 04c.526-7C>Gunknown81Details
ACVRL1Exon 05c.611T>Gp.L204WDetails
ACVRL1Exon 06c.647T>Gp.V216GDetails
ACVRL1Exon 06c.683T>Ap.V228DDetails
ACVRL1Intron 06c.772+21T>Aunknown72Details
ACVRL1Intron 06c.773-3C>GUnknown78Details
ACVRL1Exon 07c.812C>Ap.Thr271Lys78Details
ACVRL1Exon 07c.899T>Cp.Leu300ProDetails
ACVRL1Exon 07c.914C>Tp.Ser303Phe78Details
ACVRL1Exon 07c.919G>Cp.A307PDetails
ACVRL1Exon 07c.976A>Gp.Ile326Val79Details
ACVRL1Exon 07c.982C>Tp.His328Tyr78Details
ACVRL1Exon 07c.1007T>Ap.V336EDetails
ACVRL1Exon 07c.1025T>Cp.L342PDetails
ACVRL1Exon 08c.1112G>Tp.Gly371Val78Details
ACVRL1Exon 08c.1130C>Tp.A377VDetails
ACVRL1Exon 08c.1220A>Gp.Glu407Gly78Details
ACVRL1Exon 08c.1132C>Tp.P378SDetails
ACVRL1Exon 08c.1144G>Cp.D382HDetails
ACVRL1Exon 09c.1310A>Gp.D437GDetails
ACVRL1Exon 09c.1325T>Cp.V442ADetails
ACVRL1Intron 09c.1378-68A>GUnknown69Details
ACVRL1Exon 10c.1460_1462delAGAp.487delLys78Details