Unique variants in gene EXT2

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

59 entries on 1 page. Showing entries 1 - 59.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 1 - c.-29G>A r.(=) p.(=) g.44117774G>A - EXT2_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-28C>G r.(=) p.(=) g.44117775C>G - EXT2_000005 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.69+15del r.(=) p.(=) g.44117886del - EXT2_000021 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.69+45_69+90del r.(=) p.(=) g.44117916_44117961del - EXT2_000041 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.87T>C r.(=) p.(=) g.44129250T>C - EXT2_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.110C>T r.(?) p.(Ser37Leu) g.44129273C>T - EXT2_000042 rs527624522 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.250G>C r.(?) p.(Glu84Gln) g.44129413G>C - EXT2_000022 - - Germline - - - - Despoina Kalfakakou
-/- 3 - c.359T>G r.(?) p.(Met120Arg) g.44129522T>G - EXT2_000030 rs140075817 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.383G>A r.(?) p.(Arg128His) g.44129546G>A - EXT2_000036 rs143703574 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.425A>G r.(?) p.(Tyr142Cys) g.44129588A>G - EXT2_000033 - - Germline - - - - Despoina Kalfakakou
./., ?/? 3 - c.442G>A r.(?) p.(Val148Met) g.44129605G>A - EXT2_000045 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.456C>T r.(=) p.(=) g.44129619C>T - EXT2_000039 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.457G>A r.(?) p.(Val153Ile) g.44129620G>A - EXT2_000057 rs115948531 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.473C>G r.(?) p.(Thr158Ser) g.44129636C>G - EXT2_000049 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.572A>G r.(?) p.(Asp191Gly) g.44129735A>G - EXT2_000046 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.575T>G r.(?) p.(Val192Gly) g.44129738T>G - EXT2_000018 - - Germline - - - - Despoina Kalfakakou
-/-, ./. 15 - c.618G>C r.(=) p.(=) g.44129781G>C - EXT2_000026 rs148121594 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 4 - c.619A>C r.(?) p.(Met207Leu) g.44129782A>C - EXT2_000023 rs111589746 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.636-22T>G r.(=) p.(=) g.44130722T>G - EXT2_000027 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.766C>T r.(?) p.(Arg256Trp) g.44135775C>T - EXT2_000056 - - Germline - - - - Despoina Kalfakakou
-/- 2 - c.809C>T r.(?) p.(Ser270Leu) g.44135818C>T - EXT2_000011 rs139525250 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.818T>C r.(?) p.(Val273Ala) g.44135827T>C - EXT2_000044 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.843-45C>T r.(=) p.(=) g.44146294C>T - EXT2_000028 - - Germline - - - - Despoina Kalfakakou
?/? 6 - c.843-24A>G r.(=) p.(=) g.44146315A>G - EXT2_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.903C>T r.(=) p.(=) g.44146399C>T - EXT2_000037 - - Germline - - - - Despoina Kalfakakou
-/-, ./. 6 - c.988C>T r.(?) p.(Arg330Cys) g.44146484C>T - EXT2_000031 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
-/- 1 - c.995G>A r.(?) p.(Arg332His) g.44146491G>A - EXT2_000013 rs76901081 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1017C>T r.(=) p.(=) g.44146513C>T - EXT2_000019 rs35436405 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1039-46T>C r.(=) p.(=) g.44148320T>C - EXT2_000058 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1039-27A>G r.(=) p.(=) g.44148339A>G - EXT2_000001 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1039-18C>G r.(=) p.(=) g.44148348C>G - EXT2_000014 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1064G>A r.(?) p.(Arg355His) g.44148391G>A - EXT2_000002 rs149727518 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1102T>C r.(=) p.(=) g.44148429T>C - EXT2_000048 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1178+17A>G r.(=) p.(=) g.44148522A>G - EXT2_000029 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1178+23C>T r.(=) p.(=) g.44148528C>T - EXT2_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1179-16T>G r.(=) p.(=) g.44151579T>G - EXT2_000015 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1273-23A>G r.(=) p.(=) g.44193138A>G - EXT2_000016 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1277G>A r.(?) p.(Arg426Gln) g.44193165G>A - EXT2_000055 rs138187791 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1404+12C>G r.(=) p.(=) g.44193304C>G - EXT2_000054 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1405-23C>T r.(=) p.(=) g.44219356C>T - EXT2_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1439C>T r.(?) p.(Pro480Leu) g.44219413C>T - EXT2_000047 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1469C>A r.(?) p.(Thr490Asn) g.44219443C>A - EXT2_000043 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1594+31A>G r.(=) p.(=) g.44219599A>G - EXT2_000052 - - Germline - - - - Despoina Kalfakakou
+?/+? 2 - c.1595-1G>C r.spl? p.? g.44228342G>C - EXT2_000038 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1663C>T r.(?) p.(Arg555Cys) g.44228411C>T - EXT2_000053 rs145507609 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1686C>T r.(=) p.(=) g.44228434C>T - EXT2_000032 rs765251957 - Germline - - - - Despoina Kalfakakou
-/- 11 - c.1740C>T r.(=) p.(=) g.44228488C>T - EXT2_000004 rs75987184 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1744C>T r.(=) p.(=) g.44228492C>T - EXT2_000009 rs142565472 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1761+20T>C r.(=) p.(=) g.44228529T>C - EXT2_000010 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1762-32G>A r.(=) p.(=) g.44253871G>A - EXT2_000006 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.1778C>T r.(?) p.(Pro593Leu) g.44253919C>T - EXT2_000059 - - - - - - - Stevi Xera
-?/-? 4 - c.1859C>T r.(?) p.(Thr620Met) g.44254000C>T - EXT2_000017 rs138495222 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1906-29A>G r.(=) p.(=) g.44255636A>G - EXT2_000020 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1906-5G>A r.spl? p.? g.44255660G>A - EXT2_000024 - - Germline - - - - Despoina Kalfakakou
./., ?/? 3 - c.2020A>C r.(?) p.(Lys674Gln) g.44255779A>C - EXT2_000025 rs773705067 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.2034+52A>G r.(=) p.(=) g.44255845A>G - EXT2_000050 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2133C>T r.(=) p.(=) g.44265714C>T - EXT2_000035 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2145A>G r.(=) p.(=) g.44265726A>G - EXT2_000051 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.*13G>A r.(=) p.(=) g.44265850G>A - EXT2_000034 - - Germline - - - - Despoina Kalfakakou
Legend