All transcript variants in gene EXT2

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

111 entries on 2 pages. Showing entries 1 - 100.
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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.-29G>A r.(=) p.(=) g.44117774G>A - EXT2_000007 - - - - Despoina Kalfakakou
./. - c.-28C>G r.(=) p.(=) g.44117775C>G - EXT2_000005 - - - - Despoina Kalfakakou
./. - c.69+15del r.(=) p.(=) g.44117886del - EXT2_000021 - - - - Despoina Kalfakakou
./. - c.69+15del r.(=) p.(=) g.44117886del - EXT2_000021 - - - - Despoina Kalfakakou
./. - c.69+45_69+90del r.(=) p.(=) g.44117916_44117961del - EXT2_000041 - - - - Despoina Kalfakakou
./. - c.87T>C r.(=) p.(=) g.44129250T>C - EXT2_000040 - - - - Despoina Kalfakakou
./. - c.110C>T r.(?) p.(Ser37Leu) g.44129273C>T - EXT2_000042 - - - - Despoina Kalfakakou
./. - c.110C>T r.(?) p.(Ser37Leu) g.44129273C>T - EXT2_000042 - - - - Despoina Kalfakakou
./. - c.250G>C r.(?) p.(Glu84Gln) g.44129413G>C - EXT2_000022 - - - - Despoina Kalfakakou
./. - c.250G>C r.(?) p.(Glu84Gln) g.44129413G>C - EXT2_000022 - - - - Despoina Kalfakakou
./. - c.359T>G r.(?) p.(Met120Arg) g.44129522T>G - EXT2_000030 - - - - Despoina Kalfakakou
./. - c.359T>G r.(?) p.(Met120Arg) g.44129522T>G - EXT2_000030 - - - - Despoina Kalfakakou
./. - c.359T>G r.(?) p.(Met120Arg) g.44129522T>G - EXT2_000030 - - - - Despoina Kalfakakou
./. - c.383G>A r.(?) p.(Arg128His) g.44129546G>A - EXT2_000036 - - - - Despoina Kalfakakou
./. - c.383G>A r.(?) p.(Arg128His) g.44129546G>A - EXT2_000036 - - - - Despoina Kalfakakou
./. - c.425A>G r.(?) p.(Tyr142Cys) g.44129588A>G - EXT2_000033 - - - - Despoina Kalfakakou
./. - c.442G>A r.(?) p.(Val148Met) g.44129605G>A - EXT2_000045 - - - - Despoina Kalfakakou
./. - c.456C>T r.(=) p.(=) g.44129619C>T - EXT2_000039 - - - - Despoina Kalfakakou
./. - c.473C>G r.(?) p.(Thr158Ser) g.44129636C>G - EXT2_000049 - - - - Despoina Kalfakakou
./. - c.572A>G r.(?) p.(Asp191Gly) g.44129735A>G - EXT2_000046 - - - - Despoina Kalfakakou
./. - c.575T>G r.(?) p.(Val192Gly) g.44129738T>G - EXT2_000018 - - - - Despoina Kalfakakou
./. - c.575T>G r.(?) p.(Val192Gly) g.44129738T>G - EXT2_000018 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 - - - - Despoina Kalfakakou
./. - c.619A>C r.(?) p.(Met207Leu) g.44129782A>C - EXT2_000023 - - - - Despoina Kalfakakou
./. - c.619A>C r.(?) p.(Met207Leu) g.44129782A>C - EXT2_000023 - - - - Despoina Kalfakakou
./. - c.619A>C r.(?) p.(Met207Leu) g.44129782A>C - EXT2_000023 - - - - Despoina Kalfakakou
./. - c.636-22T>G r.(=) p.(=) g.44130722T>G - EXT2_000027 - - - - Despoina Kalfakakou
./. - c.809C>T r.(?) p.(Ser270Leu) g.44135818C>T - EXT2_000011 - - - - Despoina Kalfakakou
./. - c.809C>T r.(?) p.(Ser270Leu) g.44135818C>T - EXT2_000011 - - - - Despoina Kalfakakou
./. - c.818T>C r.(?) p.(Val273Ala) g.44135827T>C - EXT2_000044 - - - - Despoina Kalfakakou
./. - c.843-45C>T r.(=) p.(=) g.44146294C>T - EXT2_000028 - - - - Despoina Kalfakakou
./. - c.843-45C>T r.(=) p.(=) g.44146294C>T - EXT2_000028 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - - - Despoina Kalfakakou
./. - c.903C>T r.(=) p.(=) g.44146399C>T - EXT2_000037 - - - - Despoina Kalfakakou
./. - c.988C>T r.(?) p.(Arg330Cys) g.44146484C>T - EXT2_000031 - - - - Despoina Kalfakakou
./. - c.988C>T r.(?) p.(Arg330Cys) g.44146484C>T - EXT2_000031 - - - - Despoina Kalfakakou
./. - c.988C>T r.(?) p.(Arg330Cys) g.44146484C>T - EXT2_000031 - - - - Despoina Kalfakakou
./. - c.988C>T r.(?) p.(Arg330Cys) g.44146484C>T - EXT2_000031 - - - - Despoina Kalfakakou
./. - c.995G>A r.(?) p.(Arg332His) g.44146491G>A - EXT2_000013 rs76901081 - - - Despoina Kalfakakou
./. - c.1017C>T r.(=) p.(=) g.44146513C>T - EXT2_000019 rs35436405 - - - Despoina Kalfakakou
./. - c.1017C>T r.(=) p.(=) g.44146513C>T - EXT2_000019 rs35436405 - - - Despoina Kalfakakou
./. - c.1017C>T r.(=) p.(=) g.44146513C>T - EXT2_000019 rs35436405 - - - Despoina Kalfakakou
./. - c.1039-27A>G r.(=) p.(=) g.44148339A>G - EXT2_000001 - - - - Despoina Kalfakakou
./. - c.1039-18C>G r.(=) p.(=) g.44148348C>G - EXT2_000014 - - - - Despoina Kalfakakou
./. - c.1064G>A r.(?) p.(Arg355His) g.44148391G>A - EXT2_000002 - - - - Despoina Kalfakakou
./. - c.1064G>A r.(?) p.(Arg355His) g.44148391G>A - EXT2_000002 - - - - Despoina Kalfakakou
./. - c.1102T>C r.(=) p.(=) g.44148429T>C - EXT2_000048 - - - - Despoina Kalfakakou
./. - c.1178+17A>G r.(=) p.(=) g.44148522A>G - EXT2_000029 - - - - Despoina Kalfakakou
./. - c.1178+23C>T r.(=) p.(=) g.44148528C>T - EXT2_000008 - - - - Despoina Kalfakakou
./. - c.1178+23C>T r.(=) p.(=) g.44148528C>T - EXT2_000008 - - - - Despoina Kalfakakou
./. - c.1179-16T>G r.(=) p.(=) g.44151579T>G - EXT2_000015 - - - - Despoina Kalfakakou
./. - c.1273-23A>G r.(=) p.(=) g.44193138A>G - EXT2_000016 - - - - Despoina Kalfakakou
./. - c.1273-23A>G r.(=) p.(=) g.44193138A>G - EXT2_000016 - - - - Despoina Kalfakakou
./. - c.1277G>A r.(?) p.(Arg426Gln) g.44193165G>A - EXT2_000055 - - - - Despoina Kalfakakou
./. - c.1404+12C>G r.(=) p.(=) g.44193304C>G - EXT2_000054 - - - - Despoina Kalfakakou
./. - c.1405-23C>T r.(=) p.(=) g.44219356C>T - EXT2_000003 - - - - Despoina Kalfakakou
./. - c.1439C>T r.(?) p.(Pro480Leu) g.44219413C>T - EXT2_000047 - - - - Despoina Kalfakakou
./. - c.1469C>A r.(?) p.(Thr490Asn) g.44219443C>A - EXT2_000043 - - - - Despoina Kalfakakou
./. - c.1594+31A>G r.(=) p.(=) g.44219599A>G - EXT2_000052 - - - - Despoina Kalfakakou
./. - c.1595-1G>C r.spl? p.? g.44228342G>C - EXT2_000038 - - - - Despoina Kalfakakou
./. - c.1595-1G>C r.spl? p.? g.44228342G>C - EXT2_000038 - - - - Despoina Kalfakakou
./. - c.1663C>T r.(?) p.(Arg555Cys) g.44228411C>T - EXT2_000053 - - - - Despoina Kalfakakou
./. - c.1686C>T r.(=) p.(=) g.44228434C>T - EXT2_000032 - - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - - - Despoina Kalfakakou
./. - c.1744C>T r.(=) p.(=) g.44228492C>T - EXT2_000009 - - - - Despoina Kalfakakou
./. - c.1744C>T r.(=) p.(=) g.44228492C>T - EXT2_000009 - - - - Despoina Kalfakakou
./. - c.1744C>T r.(=) p.(=) g.44228492C>T - EXT2_000009 - - - - Despoina Kalfakakou
./. - c.1761+20T>C r.(=) p.(=) g.44228529T>C - EXT2_000010 - - - - Despoina Kalfakakou
./. - c.1762-32G>A r.(=) p.(=) g.44253871G>A - EXT2_000006 - - - - Despoina Kalfakakou
./. - c.1762-32G>A r.(=) p.(=) g.44253871G>A - EXT2_000006 - - - - Despoina Kalfakakou
./. - c.1762-32G>A r.(=) p.(=) g.44253871G>A - EXT2_000006 - - - - Despoina Kalfakakou
./. - c.1859C>T r.(?) p.(Thr620Met) g.44254000C>T - EXT2_000017 - - - - Despoina Kalfakakou
./. - c.1859C>T r.(?) p.(Thr620Met) g.44254000C>T - EXT2_000017 - - - - Despoina Kalfakakou
./. - c.1859C>T r.(?) p.(Thr620Met) g.44254000C>T - EXT2_000017 - - - - Despoina Kalfakakou
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