All transcript variants in gene TSC1

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

198 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.-44G>A r.(=) p.(=) g.135804303C>T - TSC1_000034 - - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. - c.45C>T r.(=) p.(=) g.135804215G>A - TSC1_000058 - - - - Despoina Kalfakakou
./. - c.106+47A>C r.(=) p.(=) g.135804107T>G - TSC1_000035 - - - - Despoina Kalfakakou
./. - c.106+47A>C r.(=) p.(=) g.135804107T>G - TSC1_000035 - - - - Despoina Kalfakakou
./. - c.147C>G r.(?) p.(Tyr49*) g.135802651G>C - TSC1_000057 - - - - Despoina Kalfakakou
./. - c.250G>A r.(?) p.(Ala84Thr) g.135801087C>T - TSC1_000009 - - - - Despoina Kalfakakou
./. - c.273G>A r.(=) p.(=) g.135801064C>T - TSC1_000029 - - - - Despoina Kalfakakou
./. - c.291A>G r.(?) p.(Ile97Met) g.135801046T>C - TSC1_000036 - - - - Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) g.135800991A>C - TSC1_000044 - - - - Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) g.135800991A>C - TSC1_000044 - - - - Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) g.135800991A>C - TSC1_000044 - - - - Despoina Kalfakakou
./. - c.364-50C>T r.(=) p.(=) g.135798929G>A - TSC1_000062 - - - - Despoina Kalfakakou
./. - c.364-29C>T r.(=) p.(=) g.135798908G>A - TSC1_000068 - - - - Despoina Kalfakakou
./. - c.364-14C>A r.(=) p.(=) g.135798893G>T - TSC1_000008 - - - - Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. - c.652_653insG r.(?) p.(Glu218Glyfs*24) g.135797216_135797217insC - TSC1_000056 - - - - Despoina Kalfakakou
./. - c.737+34T>G r.(=) p.(=) g.135796716A>C - TSC1_000019 - - - - Despoina Kalfakakou
./. - c.851G>A r.(?) p.(Arg284His) g.135787731C>T - TSC1_000041 - - - - Despoina Kalfakakou
./. - c.876C>T r.(=) p.(=) g.135787706G>A - TSC1_000031 - - - - Despoina Kalfakakou
./. - c.914-14C>T r.(=) p.(=) g.135786969G>A - TSC1_000025 - - - - Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) g.135786868G>A - TSC1_000030 - - - - Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) g.135786868G>A - TSC1_000030 - - - - Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) g.135786868G>A - TSC1_000030 - - - - Despoina Kalfakakou
./. - c.1002G>A r.(=) p.(=) g.135786867C>T - TSC1_000059 - - - - Despoina Kalfakakou
./. - c.1030-3C>T r.spl? p.? g.135786503G>A - TSC1_000022 - - - - Despoina Kalfakakou
./. - c.1053_1054insTG r.(?) p.(Val352Trpfs*5) g.135786476_135786477insCA - TSC1_000061 - - - - Despoina Kalfakakou
./. - c.1209G>A r.(=) p.(=) g.135786012C>T - TSC1_000021 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. - c.1263+37C>T r.(=) p.(=) g.135785921G>A - TSC1_000055 - - - - Despoina Kalfakakou
./. - c.1264-47G>A r.(=) p.(=) g.135782804C>T - TSC1_000078 - - - - Despoina Kalfakakou
./. - c.1264-9T>C r.(=) p.(=) g.135782766A>G - TSC1_000023 - - - - Despoina Kalfakakou
./. - c.1296A>C r.(=) p.(=) g.135782725T>G - TSC1_000018 - - - - Despoina Kalfakakou
./. - c.1296A>C r.(=) p.(=) g.135782725T>G - TSC1_000018 - - - - Despoina Kalfakakou
./. - c.1302A>G r.(=) p.(=) g.135782719T>C - TSC1_000077 - - - - Despoina Kalfakakou
./. - c.1333+13C>T r.(=) p.(=) g.135782675G>A - TSC1_000072 - - - - Despoina Kalfakakou
./. - c.1333+13C>T r.(=) p.(=) g.135782675G>A - TSC1_000072 - - - - Despoina Kalfakakou
./. - c.1438+44C>T r.(=) p.(=) g.135782074G>A - TSC1_000074 - - - - Despoina Kalfakakou
./. - c.1439-21del r.(=) p.(=) g.135781547del - TSC1_000070 - - - - Despoina Kalfakakou
./. - c.1589G>C r.(?) p.(Ser530Thr) g.135781376C>G - TSC1_000064 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. - c.1685C>G r.(?) p.(Ala562Gly) g.135781280G>C - TSC1_000017 - - - - Despoina Kalfakakou
./. - c.1700C>T r.(?) p.(Ala567Val) g.135781265G>A - TSC1_000040 - - - - Despoina Kalfakakou
./. - c.1749C>T r.(=) p.(=) g.135781216G>A - TSC1_000066 - - - - Despoina Kalfakakou
./. - c.1916G>T r.(?) p.(Gly639Val) g.135781049C>A - TSC1_000060 - - - - Despoina Kalfakakou
./. - c.1936A>G r.(?) p.(Met646Val) g.135781029T>C - TSC1_000067 - - - - Despoina Kalfakakou
./. - c.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 - - - - Despoina Kalfakakou
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