All transcript variants in gene EXT1

Information The variants shown are described using the NM_000127.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-40C>G r.(=) p.(=) g.119123325G>C - EXT1_000001 - - - - Despoina Kalfakakou
./. - c.-40C>G r.(=) p.(=) g.119123325G>C - EXT1_000001 - - - - Despoina Kalfakakou
./. - c.55C>T r.(?) p.(Leu19Phe) g.119123231G>A - EXT1_000026 - - - - Despoina Kalfakakou
./. - c.122G>C r.(?) p.(Ser41Thr) g.119123164C>G - EXT1_000019 - - - - Despoina Kalfakakou
./. - c.210A>G r.(=) p.(=) g.119123076T>C - EXT1_000018 - - - - Despoina Kalfakakou
./. - c.214G>A r.(?) p.(Glu72Lys) g.119123072C>T - EXT1_000013 - - - - Despoina Kalfakakou
./. - c.214G>A r.(?) p.(Glu72Lys) g.119123072C>T - EXT1_000013 - - - - Despoina Kalfakakou
./. - c.315T>C r.(=) p.(=) g.119122971A>G - EXT1_000006 - - - - Despoina Kalfakakou
./. - c.517A>G r.(?) p.(Asn173Asp) g.119122769T>C - EXT1_000022 - - - - Despoina Kalfakakou
./. - c.528C>G r.(=) p.(=) g.119122758G>C - EXT1_000007 - - - - Despoina Kalfakakou
./. - c.844G>A r.(?) p.(Ala282Thr) g.119122442C>T - EXT1_000008 - - - - Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) g.119122302A>G - EXT1_000016 - - - - Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) g.119122302A>G - EXT1_000016 - - - - Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) g.119122302A>G - EXT1_000016 - - - - Despoina Kalfakakou
./. - c.962+37del r.(=) p.(=) g.119122287del - EXT1_000027 - - - - Despoina Kalfakakou
./. - c.1164+51C>T r.(=) p.(=) g.118847632G>A - EXT1_000015 - - - - Despoina Kalfakakou
./. - c.1164+51C>T r.(=) p.(=) g.118847632G>A - EXT1_000015 - - - - Despoina Kalfakakou
./. - c.1165-49T>C r.(=) p.(=) g.118842637A>G - EXT1_000023 - - - - Despoina Kalfakakou
./. - c.1165-35del r.(=) p.(=) g.118842623del - EXT1_000028 - - - - Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) g.118842444C>T - EXT1_000017 - - - - Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) g.118842444C>T - EXT1_000017 - - - - Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) g.118842444C>T - EXT1_000017 - - - - Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) g.118842444C>T - EXT1_000017 - - - - Despoina Kalfakakou
./. - c.1360G>A r.(?) p.(Val454Ile) g.118834761C>T - EXT1_000012 - - - - Despoina Kalfakakou
./. - c.1417+16C>T r.(=) p.(=) g.118834688G>A - EXT1_000002 - - - - Despoina Kalfakakou
./. - c.1417+39del r.(=) p.(=) g.118834665del - EXT1_000030 - - - - Despoina Kalfakakou
./. - c.1418-45T>C r.(=) p.(=) g.118832078A>G - EXT1_000011 - - - - Despoina Kalfakakou
./. - c.1418-34G>A r.(=) p.(=) g.118832067C>T - EXT1_000010 - - - - Despoina Kalfakakou
./. - c.1418-34G>A r.(=) p.(=) g.118832067C>T - EXT1_000010 - - - - Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C - EXT1_000005 - - - - Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C - EXT1_000005 - - - - Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C - EXT1_000005 - - - - Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C - EXT1_000005 - - - - Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C - EXT1_000005 - - - - Despoina Kalfakakou
./. - c.1486C>T r.(?) p.(Pro496Ser) g.118831965G>A - EXT1_000024 - - - - Despoina Kalfakakou
./. - c.1536+7G>A r.(=) p.(=) g.118831908C>T - EXT1_000021 - - - - Despoina Kalfakakou
./. - c.1659C>T r.(=) p.(=) g.118825174G>A - EXT1_000025 - - - - Despoina Kalfakakou
./. - c.1659C>T r.(=) p.(=) g.118825174G>A - EXT1_000025 - - - - Despoina Kalfakakou
./. - c.1677C>T r.(=) p.(=) g.118825156G>A - EXT1_000029 - - - - Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) g.118825102G>A - EXT1_000014 - - - - Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) g.118825102G>A - EXT1_000014 - - - - Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) g.118825102G>A - EXT1_000014 - - - - Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) g.118825102G>A - EXT1_000014 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) g.118819560G>A - EXT1_000009 - - - - Despoina Kalfakakou
./. - c.1782G>A r.(=) p.(=) g.118819557C>T - EXT1_000004 rs61753261 - - - Despoina Kalfakakou
./. - c.2178C>T r.(=) p.(=) g.118812014G>A - EXT1_000020 - - - - Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) g.118811903T>A - EXT1_000003 - - - - Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) g.118811903T>A - EXT1_000003 - - - - Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) g.118811903T>A - EXT1_000003 - - - - Despoina Kalfakakou
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