View all variants affecting transcripts

45 entries on 1 page. Showing entries 1 - 45.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC1 NM_000368.4 9 Unknown g.132925612A>T - TSC1_000001 - Admin ./+ 5 c.338T>A r.(?) p.(Leu113*)
TSC1 NM_000368.4 9 Unknown g.132921418G>A - TSC1_000002 - Admin ./+ 8 c.682C>T r.(?) p.(Arg228*)
TSC1 NM_000368.4 9 Unknown g.132921367G>A - TSC1_000003 - Admin ./+ 8 c.733C>T r.(?) p.(Arg245*)
TSC1 NM_000368.4 9 Unknown g.132912394dup - TSC1_000004 Admin Admin ./+ 9 c.801dup r.(?) p.(Glu268Argfs*5)
TSC1 NM_000368.4 9 Unknown g.132911494del - TSC1_000005 - Admin ./+ 10 c.988del r.(?) p.(Leu330*)
TSC1 NM_000368.4 9 Unknown g.132911493dupA - TSC1_000006 - Admin ./+ 10 c.989dupT r.(?) p.(Ser331Glufs*10)
TSC1 NM_000368.4 9 Unknown g.132905687_132905690del - TSC1_000007 - Admin ./+ 15 c.1888_1891del r.(?) p.(Lys630Glnfs*22)
TSC1 NM_000368.4 9 Unknown g.132903785_132903788dup - TSC1_000008 - Admin ./+ 17 c.2071_2074dup r.(?) p.(Arg692Profs*15)
TSC1 NM_000368.4 9 Unknown g.132903769A>T - TSC1_000009 - Admin ./+ 17 c.2090T>A r.(?) p.(Leu697*)
TSC1 NM_000368.4 9 Unknown g.132902709G>A - TSC1_000010 - Admin ./+ 18 c.2287C>T r.(?) p.(Gln763*)
TSC1 NM_000368.4 9 Unknown g.132921446T>G - TSC1_000011 Admin Admin ./. 7i c.664-10A>C r.(=) p.(=)
TSC1 NM_000368.4 9 Unknown g.132896343G>A - TSC1_000012 - Admin ./-? 23 c.3387C>T r.(=) p.(=)
TSC1 NM_000368.4 9 Unknown g.132906141T>C - TSC1_000013 Admin Admin ./+ 14i c.1439-2A>G r.spl? p.?
TSC2 NM_000548.3 16 Unknown g.2050430del - TSC2_000001 - Admin ./+ 3 c.169del r.(?) p.(Arg57Alafs*4)
TSC2 NM_000548.3 16 Unknown g.2056719delinsTCCT - TSC2_000002 - Admin ./+? 8 c.724delinsTCCT r.(?) p.(Thr242delinsSerSer)
TSC2 NM_000548.3 16 Unknown g.2058809G>A - TSC2_000003 - Admin ./? 10 c.911G>A r.(?) p.(Trp304*)
TSC2 NM_000548.3 16 Unknown g.2058874G>T - TSC2_000004 Admin Admin ./+ 10i c.975+1G>T r.spl? p.?
TSC2 NM_000548.3 16 Unknown g.2060655G>A - TSC2_000005 - Admin ./+ 10i c.976-15G>A r.(=) p.(=)
TSC2 NM_000548.3 16 Unknown g.2060702T>G - TSC2_000006 - Admin ./+ 11 c.1008T>G r.(?) p.(Tyr336*)
TSC2 NM_000548.3 16 Unknown g.2060713T>C - TSC2_000007 - Admin ./+ 11 c.1019T>C r.(?) p.(Leu340Pro)
TSC2 NM_000548.3 16 Unknown g.2062562G>A - TSC2_000008 - Admin +/. 13 c.1323G>A r.(?) p.(Trp441*)
TSC2 NM_000548.3 16 Unknown g.2064341C>T - TSC2_000009 - Admin ./? 15 c.1513C>T r.(?) p.(Arg505*)
TSC2 NM_000548.3 16 Unknown g.2065612del - TSC2_000010 - Admin ./+ 16 c.1693del r.(?) p.(Leu565Trpfs*133)
TSC2 NM_000548.3 16 Unknown g.2071813_2071814insA - TSC2_000011 - Admin ./+ 19 c.1976_1977insA r.(?) p.(Ser660Glnfs*43)
TSC2 NM_000548.3 16 Unknown g.2071908del - TSC2_000012 - Admin ./+ 19 c.2071del r.(?) p.(Arg691Alafs*7)
TSC2 NM_000548.3 16 Unknown g.2072337C>T - TSC2_000013 - Admin ./+ 20 c.2194C>T r.(?) p.(Gln732*)
TSC2 NM_000548.3 16 Unknown g.2072985_2072988del - TSC2_000014 - Admin ./+ 21i c.2355+2_2355+5del r.spl? p.?
TSC2 NM_000548.3 16 Unknown g.2075804_2075823dup - TSC2_000015 - Admin ./+ 23 c.2551_2570dup r.(?) p.(Tyr857*)
TSC2 NM_000548.3 16 Unknown g.2079039C>T - TSC2_000016 - Admin ./+ 27 c.2974C>T r.(?) p.(Gln992*)
TSC2 NM_000548.3 16 Unknown g.2081669C>T - TSC2_000017 - Admin ./+ 31 c.3685C>T r.(?) p.(Gln1229*)
TSC2 NM_000548.3 16 Unknown g.2081756_2081762del - TSC2_000018 - Admin ./+ 31 c.3772_3778del r.(?) p.(Ala1258Argfs*65)
TSC2 NM_000548.3 16 Unknown g.2084457_2084458del - TSC2_000019 - Admin ./+ 34 c.4235_4236del r.(?) p.(Pro1412Argfs*3)
TSC2 NM_000548.3 16 Unknown g.2084597C>T - TSC2_000020 - Admin ./+ 34 c.4375C>T r.(?) p.(Arg1459*)
TSC2 NM_000548.3 16 Unknown g.2084597C>T - TSC2_000020 - Admin ./+ 34 c.4375C>T r.(?) p.(Arg1459*)
TSC2 NM_000548.3 16 Unknown g.2086215T>C - TSC2_000021 - Admin ./+? 37 c.4685T>C r.(?) p.(Leu1562Pro)
TSC2 NM_000548.3 16 Unknown g.2088117_2088128del - TSC2_000022 - Admin ./+ 40 c.5138_5149del r.(?) p.(Arg1713_Ala1716del)
TSC2 NM_000548.3 16 Unknown g.2088085_2088086insCACA - TSC2_000023 - Admin ./+ 40 c.5106_5107insCACA r.(?) p.(Val1703Hisfs*4)
TSC2 NM_000548.3 16 Unknown g.2088105C>T - TSC2_000024 - Admin ./+ 40 c.5126C>T r.(?) p.(Pro1709Leu)
TSC2 NM_000548.3 16 Unknown g.2088304_2088321del - TSC2_000025 - Admin ./+ 41 c.5238_5255del r.(?) p.(His1746_Arg1751del)
TSC2 NM_000548.3 16 Unknown g.2058881G>A - TSC2_000026 - Admin ./. 10i c.975+8G>A r.(=) p.(=)
TSC2 NM_000548.3 16 Unknown g.2071848G>T - TSC2_000027 - Admin ./. 19 c.2011G>T r.(?) p.(Gly671Cys)
TSC2 NM_000548.3 16 Unknown g.2083797G>A - TSC2_000028 - Admin ./-? 33 c.3986G>A r.(?) p.(Arg1329His)
TSC2 NM_000548.3 16 Unknown g.2084619C>T - TSC2_000029 - Admin ./. 34 c.4397C>T r.(?) p.(Ser1466Leu)
TSC2 NM_000548.3 16 Unknown g.2084984_2084986del - TSC2_000030 - Admin ./-? 35 c.4527_4529del r.(?) p.(Phe1510del)
TSC2 NM_000548.3 16 Unknown g.2048066_2060669del - TSC2_000031 Admin Admin ./+ 1_10 c.(? _-106)_(975+1_?)del r.spl? p.?
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