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LOVD - Variant listings for SLC26A4

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189 entries
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DNA change   Descending
Ascending
Protein Hide Protein column Descending
Ascending
dbSNP ID Hide dbSNP ID column Descending
Ascending
chr7:107089337A>C p.G5G rs7811324
chr7:107089345C>T p.S8L rs34942046
chr7:107101994G>T p.A189S rs35045430
chr7:107111019C>T p.P301L rs34373141
chr7:107111187A>T p.N324Y rs36039758
chr7:107117901A>C p.T416P rs28939086
chr7:107128804C>T p.V577A rs56017519
chr7:107128864C>T p.L597S rs55638457
chr7:107129530G>T p.V609G rs17154335
chr7:107132036G>T p.D687Y rs35548413
chr7:107137775C>T p.D710D rs17154347
chr7:107137863A>G p.G740S rs17154353
c.2T>C p.M1T -
c.3G>A p.M1I -
c.28C>A p.P10T -
c.68C>A p.S23X -
c.70C>G p.R24G -
c.71G>T p.R24L -
c.82A>C p.S28R -
c.84C>A p.S28R -
c.85G>C p.E29Q -
c.109G>T p.E37X -
c.149T>G p.L50R -
c.170C>A p.S57X -
c.200C>G p.T67S -
c.226C>T p.P76S -
c.227C>T p.P76L -
c.230A>T p.K77I -
c.233A>G p.Y78C -
c.235C>T p.R79X -
c.259G>T p.D87Y -
c.269C>T p.S90L -
c.281C>T p.T94I -
c.296C>G p.T99R -
c.304G>A p.G102R -
c.311C>T p.A104V -
c.314A>G p.Y105C -
c.317C>A p.A106D -
c.334C>T p.P112S -
c.349C>T p.L117F -
c.367C>T p.P123S -
c.395C>T p.T132I -
c.397T>A p.S133T -
c.398C>A p.S133X -
c.404A>G p.H135R -
c.409T>C p.S137P -
c.412G>C p.V138L -
c.412G>T p.V138F -
c.416G>C p.G139A -
c.416G>T p.G139V -
c.419C>A p.P140H -
c.425C>G p.P142R -
c.439A>G p.M147V -
c.440T>C p.M147T -
c.497G>A p.S166N -
c.535G>A p.179A>T -
c.565G>T p.A189S -
c.578C>T p.T193I -
c.589G>A p.G197R -
c.596T>C p.I199T -
c.611G>T p.G204V -
c.626G>A p.G209E -
c.626G>T p.G209V -
c.691G>A p.V231M -
c.697G>C p.V233L -
c.707T>C p.L236P -
c.716T>A p.V239D -
c.749T>C p.V250A -
c.754T>C p.S252P -
c.777G>T p.259E>D -
c.796G>A p.D266N -
c.811G>C p.D271H -
c.812A>G p.D271G -
c.849G>C p.M283I -
c.898A>C p.300I>L -
c.907G>C p.E303Q -
c.920C>T p.T307M -
c.941C>A p.S314X -
c.946G>T p.G316X -
c.964A>G p.N322D -
c.970A>T p.N324Y -
c.1001G>T p.G334V -
c.1003T>C p.F335L -
c.1004T>C p.F335S -
c.1061T>C p.F354S -
c.1079C>T p.A360V -
c.1105A>G p.K369E -
c.1115C>T p.A372V -
c.1124A>G p.Y375C -
c.1151A>G p.E384G -
c.1160C>T p.A387V -
c.1172G>A p.S391N -
c.1173C>A p.S391R -
c.1174A>T p.N392Y -
c.1175A>G p.N392S -
c.1195T>C p.S399P -
c.1204G>A p.V402M -
c.1225C>T p.R409C -
c.1226G>A p.R409H -
c.1226G>C p.R409P -
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Legend: [ SLC26A4 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. Husami et al. 2006-2010

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