LOVD - Variant listings for UNC13D

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39 entries
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DNA change   Descending

Protein Hide Protein column Descending

dbSNP ID Hide dbSNP ID column Descending
chr17:71335662C>T p.H1084H rs61753922
chr17:71335716C>T p.E1066E rs7210574
chr17:71337715C>T p.E981E rs35628234
chr17:71338086A>G p.R928C rs35037984
chr17:71338800C>T p.K867E rs1135688
chr17:71338825C>G p.H858Q rs17496835
chr17:71342387G>T p.T666T rs34956653
chr17:71342611C>T p.T659T rs2290770
chr17:71343428A>G p.T541M rs3744025
chr17:71347578A>C p.A331D rs61754945
chr17:71347741A>G p.L302F rs55661958
chr17:71347757C>G p.P296P rs7223416
chr17:71347912A>G p.I283V rs61754871
chr17:71350732A>G p.P93P rs3744007
chr17:71350921C>T p.A59T rs9904366
c.175G>A p.A59T -
c.247C>T p.R83X -
c.610A>G p.M204V -
c.640C>T p.R214X -
c.766C>T p.R256X -
c.817C>T p.R273X -
c.869C>T p.S290L -
c.1061G>T p.W354L -
c.1145G>A p.W382X -
c.1208T>C p.L403P -
c.1241G>T p.R414L -
c.1579C>T p.R527W -
c.1760G>A p.R587H -
c.2039G>C p.R680P -
c.2163G>A p.W721X -
c.2191G>A p.V731M -
c.2570T>G p.F857C -
c.2650C>T p.Q884X -
c.2672T>C p.L891P -
c.2782C>T p.R928C -
c.2783G>C p.R928P -
c.3131T>G p.L1044R -
c.3173T>C p.L1058P -
c.3193C>T p.R1065X -
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Legend: [ UNC13D full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs#

For research use only. Husami et al. 2006-2010