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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
c.1229C>T p.T410M -
c.1231G>A p.A411T -
c.1231G>C p.A411P -
c.1238A>C p.Q413P -
c.1246A>C p.T416P -
c.1259C>T p.T420I -
c.1262A>C p.Q421P -
c.1262A>G p.Q421R -
c.1262A>T p.Q421L -
c.1265T>A p.V422D -
c.1271G>A p.G424D -
c.1315G>A p.G439R -
c.1318A>T p.K440X -
c.1322T>C p.L441P -
c.1334T>G p.L445W -
c.1336C>T p.Q446X -
c.1337A>G p.Q446R -
c.1343C>A p.S448X -
c.1343C>T p.S448L -
c.1363A>T p.I455F -
c.1371C>A p.N457K -
c.1409G>A p.R470H -
c.1439T>A p.V480D -
c.1454C>G p.T485R -
c.1468A>C p.I490L -
c.1472T>C p.I491T -
c.1489G>A p.G497S -
c.1489G>C p.G497R -
c.1523C>A p.T508N -
c.1540C>A p.Q514K -
c.1540C>T p.Q514X -
c.1541A>G p.Q514R -
c.1544T>G p.F515C -
c.1579A>C p.T527P -
c.1586T>G p.I529S -
c.1588T>C p.Y530H -
c.1589A>C p.Y530S -
c.1594A>C p.S532R -
c.1625C>G p.P542R -
c.1634T>A p.V545E -
c.1634T>C p.V545A -
c.1649T>A p.F550Y -
c.1655G>T p.S552I -
c.1666T>C p.Y556H -
c.1667A>G p.Y556C -
c.1673A>T p.N558I -
c.1674T>G p.N558K -
c.1693T>C p.C565R -
c.1694G>A p.C565Y -
c.1716T>A p.F572L -
c.1717G>T p.D573Y -
c.1743G>C p.R581S -
c.1786C>T p.Q596X -
c.1790T>C
  (Reported 2 times)		 p.L597S -
c.1826T>G
  (Reported 2 times)		 p.V609G -
c.1829C>A p.S610X -
c.1864G>A p.E622K -
c.1870C>G p.L624V -
c.1873G>T p.E625X -
c.1880T>G p.L627R -
c.1958T>C p.V653A -
c.1970G>A p.S657N -
c.1975G>C p.V659L -
c.1997C>T p.S666F -
c.2000T>G p.F667C -
c.2005G>A p.D669N -
c.2015G>A p.G672E -
c.2027T>A p.L676Q -
c.2048T>C p.F683S -
c.2054G>T p.R685I -
c.2069T>C p.V690A -
c.2080T>C p.S694P -
c.2090A>C p.D697A -
c.2139T>G p.I713M -
c.2141G>A p.R714K -
c.2145G>T p.K715N -
c.2162C>T p.T721M -
c.2167C>G p.H723D -
c.2168A>G p.H723R -
c.2170G>A p.D724N -
c.2171A>G p.D724G -
c.2176A>G p.I726V -
c.2186T>C p.729L>P -
c.2211G>C p.E737D -
c.2218G>A p.G740S -
c.2219G>T p.G740V -
c.2324T>C p.M775T -
c.2326C>T p.R776C -
c.2343A>G p.X781W -
101 - 189
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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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