Unique variants in gene TSC1

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

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-44G>A r.(=) p.(=) g.135804303C>T - TSC1_000034 - - - - Despoina Kalfakakou
./. 24 - c.-7C>T r.(=) p.(=) g.135804266G>A - TSC1_000005 rs62621221 - - - Despoina Kalfakakou
./. 1 - c.45C>T r.(=) p.(=) g.135804215G>A - TSC1_000058 - - - - Despoina Kalfakakou
./. 2 - c.106+47A>C r.(=) p.(=) g.135804107T>G - TSC1_000035 - - - - Despoina Kalfakakou
./. 1 - c.147C>G r.(?) p.(Tyr49*) g.135802651G>C - TSC1_000057 - - - - Despoina Kalfakakou
./. 1 - c.250G>A r.(?) p.(Ala84Thr) g.135801087C>T - TSC1_000009 - - - - Despoina Kalfakakou
./. 1 - c.273G>A r.(=) p.(=) g.135801064C>T - TSC1_000029 - - - - Despoina Kalfakakou
./. 1 - c.291A>G r.(?) p.(Ile97Met) g.135801046T>C - TSC1_000036 - - - - Despoina Kalfakakou
./. 3 - c.346T>G r.(?) p.(Leu116Val) g.135800991A>C - TSC1_000044 - - - - Despoina Kalfakakou
./. 1 - c.364-50C>T r.(=) p.(=) g.135798929G>A - TSC1_000062 - - - - Despoina Kalfakakou
./. 1 - c.364-29C>T r.(=) p.(=) g.135798908G>A - TSC1_000068 - - - - Despoina Kalfakakou
./. 1 - c.364-14C>A r.(=) p.(=) g.135798893G>T - TSC1_000008 - - - - Despoina Kalfakakou
./. 5 - c.518C>T r.(?) p.(Ala173Val) g.135797351G>A - TSC1_000047 - - - - Despoina Kalfakakou
./. 12 - c.532G>A r.(?) p.(Val178Ile) g.135797337C>T - TSC1_000003 - - - - Despoina Kalfakakou
./. 1 - c.652_653insG r.(?) p.(Glu218Glyfs*24) g.135797216_135797217insC - TSC1_000056 - - - - Despoina Kalfakakou
./. 1 - c.737+34T>G r.(=) p.(=) g.135796716A>C - TSC1_000019 - - - - Despoina Kalfakakou
./. 1 - c.851G>A r.(?) p.(Arg284His) g.135787731C>T - TSC1_000041 - - - - Despoina Kalfakakou
./. 1 - c.876C>T r.(=) p.(=) g.135787706G>A - TSC1_000031 - - - - Despoina Kalfakakou
./. 1 - c.914-14C>T r.(=) p.(=) g.135786969G>A - TSC1_000025 - - - - Despoina Kalfakakou
./. 3 - c.1001C>T r.(?) p.(Ser334Leu) g.135786868G>A - TSC1_000030 - - - - Despoina Kalfakakou
./. 1 - c.1002G>A r.(=) p.(=) g.135786867C>T - TSC1_000059 - - - - Despoina Kalfakakou
./. 1 - c.1030-3C>T r.spl? p.? g.135786503G>A - TSC1_000022 - - - - Despoina Kalfakakou
./. 1 - c.1053_1054insTG r.(?) p.(Val352Trpfs*5) g.135786476_135786477insCA - TSC1_000061 - - - - Despoina Kalfakakou
./. 1 - c.1209G>A r.(=) p.(=) g.135786012C>T - TSC1_000021 - - - - Despoina Kalfakakou
./. 8 - c.1263+8_1263+9insATC r.(=) p.(=) g.135785949_135785950insGAT - TSC1_000020 - - - - Despoina Kalfakakou
./. 1 - c.1263+37C>T r.(=) p.(=) g.135785921G>A - TSC1_000055 - - - - Despoina Kalfakakou
./. 1 - c.1264-47G>A r.(=) p.(=) g.135782804C>T - TSC1_000078 - - - - Despoina Kalfakakou
./. 1 - c.1264-9T>C r.(=) p.(=) g.135782766A>G - TSC1_000023 - - - - Despoina Kalfakakou
./. 2 - c.1296A>C r.(=) p.(=) g.135782725T>G - TSC1_000018 - - - - Despoina Kalfakakou
./. 1 - c.1302A>G r.(=) p.(=) g.135782719T>C - TSC1_000077 - - - - Despoina Kalfakakou
./. 2 - c.1333+13C>T r.(=) p.(=) g.135782675G>A - TSC1_000072 - - - - Despoina Kalfakakou
./. 1 - c.1438+44C>T r.(=) p.(=) g.135782074G>A - TSC1_000074 - - - - Despoina Kalfakakou
./. 1 - c.1439-21del r.(=) p.(=) g.135781547del - TSC1_000070 - - - - Despoina Kalfakakou
./. 1 - c.1589G>C r.(?) p.(Ser530Thr) g.135781376C>G - TSC1_000064 - - - - Despoina Kalfakakou
./. 8 - c.1648C>G r.(?) p.(Gln550Glu) g.135781317G>C - TSC1_000007 - - - - Despoina Kalfakakou
./. 1 - c.1685C>G r.(?) p.(Ala562Gly) g.135781280G>C - TSC1_000017 - - - - Despoina Kalfakakou
./. 1 - c.1700C>T r.(?) p.(Ala567Val) g.135781265G>A - TSC1_000040 - - - - Despoina Kalfakakou
./. 1 - c.1749C>T r.(=) p.(=) g.135781216G>A - TSC1_000066 - - - - Despoina Kalfakakou
./. 1 - c.1916G>T r.(?) p.(Gly639Val) g.135781049C>A - TSC1_000060 - - - - Despoina Kalfakakou
./. 1 - c.1936A>G r.(?) p.(Met646Val) g.135781029T>C - TSC1_000067 - - - - Despoina Kalfakakou
./. 4 - c.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 - - - - Despoina Kalfakakou
./. 1 - c.1975G>A r.(?) p.(Ala659Thr) g.135780990C>T - TSC1_000048 - - - - Despoina Kalfakakou
./. 3 - c.1977G>A r.(=) p.(=) g.135780988C>T - TSC1_000045 rs35958226 - - - Despoina Kalfakakou
./. 1 - c.1987G>T r.(?) p.(Glu663*) g.135780978C>A - TSC1_000054 - - - - Despoina Kalfakakou
./. 1 - c.1998-33G>A r.(=) p.(=) g.135779874C>T - TSC1_000015 - - - - Despoina Kalfakakou
./. 1 - c.2041+1G>C r.spl? p.? g.135779797C>G - TSC1_000053 - - - - Despoina Kalfakakou
./. 1 - c.2075G>C r.(?) p.(Arg692Pro) g.135779171C>G - TSC1_000024 - - - - Despoina Kalfakakou
./. 1 - c.2101del r.(?) p.(Gln701Serfs*23) g.135779145del - TSC1_000052 - - - - Despoina Kalfakakou
./. 4 - c.2194C>T r.(?) p.(His732Tyr) g.135779052G>A - TSC1_000028 - - - - Despoina Kalfakakou
./. 1 - c.2249G>A r.(?) p.(Trp750*) g.135778134C>T - TSC1_000051 - - - - Despoina Kalfakakou
./. 3 - c.2285A>G r.(?) p.(Asn762Ser) g.135778098T>C - TSC1_000042 - - - - Despoina Kalfakakou
./. 1 - c.2302C>T r.(?) p.(Arg768Cys) g.135778081G>A - TSC1_000050 - - - - Despoina Kalfakakou
./. 1 - c.2317A>C r.(?) p.(Thr773Pro) g.135778066T>G - TSC1_000037 - - - - Despoina Kalfakakou
./. 1 - c.2318C>A r.(?) p.(Thr773Asn) g.135778065G>T - TSC1_000038 - - - - Despoina Kalfakakou
./. 22 - c.2391+34G>A r.(=) p.(=) g.135777958C>T - TSC1_000002 - - - - Despoina Kalfakakou
./. 1 - c.2392-32C>G r.(=) p.(=) g.135777118G>C - TSC1_000069 - - - - Despoina Kalfakakou
./. 1 - c.2392-32C>T r.(=) p.(=) g.135777118G>A - TSC1_000032 - - - - Despoina Kalfakakou
./. 1 - c.2392-21T>C r.(=) p.(=) g.135777107A>G - TSC1_000049 - - - - Despoina Kalfakakou
./. 2 - c.2502+18A>C r.(=) p.(=) g.135776958T>G - TSC1_000076 - - - - Despoina Kalfakakou
./. 5 - c.2646C>T r.(=) p.(=) g.135772977G>A - TSC1_000001 - - - - Despoina Kalfakakou
./. 2 - c.2766T>G r.(=) p.(=) g.135772857A>C - TSC1_000046 - - - - Despoina Kalfakakou
./. 1 - c.2814-27A>G r.(=) p.(=) g.135772759T>C - TSC1_000075 - - - - Despoina Kalfakakou
./. 1 - c.2841G>C r.(?) p.(Arg947Ser) g.135772705C>G - TSC1_000014 - - - - Despoina Kalfakakou
./. 3 - c.2865C>T r.(=) p.(=) g.135772681G>A - TSC1_000043 rs45468995 - - - Despoina Kalfakakou
./. 1 - c.2932C>T r.(?) p.(Leu978Phe) g.135772614G>A - TSC1_000006 - - - - Despoina Kalfakakou
./. 1 - c.2975+42C>T r.(=) p.(=) g.135772529G>A - TSC1_000065 - - - - Despoina Kalfakakou
./. 7 - c.2976-34C>A r.(=) p.(=) g.135772175G>T - TSC1_000013 - - - - Despoina Kalfakakou
./. 1 - c.2976-21_2976-20insT r.(=) p.(=) g.135772161_135772162insA - TSC1_000033 - - - - Despoina Kalfakakou
./. 1 - c.2982C>T r.(=) p.(=) g.135772135G>A - TSC1_000012 - - - - Despoina Kalfakakou
./. 1 - c.3076G>A r.(?) p.(Ala1026Thr) g.135772041C>T - TSC1_000073 - - - - Despoina Kalfakakou
./. 10 - c.3103G>A r.(?) p.(Gly1035Ser) g.135772014C>T - TSC1_000026 - - - - Despoina Kalfakakou
./. 1 - c.3129_3130insAGC r.(?) p.(Ser1043dup) g.135771987_135771988insGCT - TSC1_000063 - - - - Despoina Kalfakakou
./. 2 - c.3133C>G r.(?) p.(Leu1045Val) g.135771984G>C - TSC1_000027 - - - - Despoina Kalfakakou
./. 4 - c.3282G>A r.(=) p.(=) g.135771835C>T - TSC1_000039 - - - - Despoina Kalfakakou
./. 2 - c.3405A>G r.(=) p.(=) g.135771712T>C - TSC1_000071 - - - - Despoina Kalfakakou
./. 1 - c.3419C>T r.(?) p.(Pro1140Leu) g.135771698G>A - TSC1_000079 - - - - Despoina Kalfakakou
./. 1 - c.3420G>A r.(=) p.(=) g.135771697C>T - TSC1_000011 - - - - Despoina Kalfakakou
./. 1 - c.3428C>T r.(?) p.(Pro1143Leu) g.135771689G>A - TSC1_000010 - - - - Despoina Kalfakakou
./. 2 - c.3435G>A r.(=) p.(=) g.135771682C>T - TSC1_000080 - - - - Despoina Kalfakakou
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