Unique variants in gene TSC2

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

308 entries on 4 pages. Showing entries 1 - 100.
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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.17G>A r.(?) p.(Ser6Asn) g.2098633G>A - TSC2_000136 - - - - Despoina Kalfakakou
./. 1 - c.39_64del r.(?) p.(Lys14Asnfs*12) g.2098655_2098680del - TSC2_000234 - - - - Despoina Kalfakakou
./. 1 - c.96G>A r.(=) p.(=) g.2098712G>A - TSC2_000278 - - - - Despoina Kalfakakou
./. 1 - c.135G>C r.(=) p.(=) g.2098751G>C - TSC2_000135 - - - - Despoina Kalfakakou
./. 1 - c.138+6T>C r.(=) p.(=) g.2098760T>C - TSC2_000131 - - - - Despoina Kalfakakou
./. 2 - c.138+13C>T r.(=) p.(=) g.2098767C>T - TSC2_000132 - - - - Despoina Kalfakakou
./. 1 - c.139-46C>T r.(=) p.(=) g.2100355C>T - TSC2_000277 - - - - Despoina Kalfakakou
./. 1 - c.139-34A>G r.(=) p.(=) g.2100367A>G - TSC2_000038 - - - - Despoina Kalfakakou
./. 1 - c.139-22_139-20del r.(=) p.(=) g.2100379_2100381del - TSC2_000152 - - - - Despoina Kalfakakou
./. 2 - c.152A>C r.(?) p.(Glu51Ala) g.2100414A>C - TSC2_000274 - - - - Despoina Kalfakakou
./. 1 - c.153A>C r.(?) p.(Glu51Asp) g.2100415A>C - TSC2_000149 - - - - Despoina Kalfakakou
./. 3 - c.223G>A r.(?) p.(Glu75Lys) g.2100485G>A - TSC2_000086 - - - - Despoina Kalfakakou
./. 1 - c.225+25A>G r.(=) p.(=) g.2100512A>G - TSC2_000150 - - - - Despoina Kalfakakou
./. 1 - c.225+25_225+26del r.(=) p.(=) g.2100512_2100513del - TSC2_000115 - - - - Despoina Kalfakakou
./. 1 - c.225+38T>A r.(=) p.(=) g.2100525T>A - TSC2_000087 - - - - Despoina Kalfakakou
./. 1 - c.225+41A>G r.(=) p.(=) g.2100528A>G - TSC2_000088 - - - - Despoina Kalfakakou
./. 1 - c.226-44C>A r.(=) p.(=) g.2103299C>A - TSC2_000151 - - - - Despoina Kalfakakou
./. 1 - c.226-23G>A r.(=) p.(=) g.2103320G>A - TSC2_000133 - - - - Despoina Kalfakakou
./. 1 - c.226-22C>T r.(=) p.(=) g.2103321C>T - TSC2_000181 - - - - Despoina Kalfakakou
./. 2 - c.228C>T r.(=) p.(=) g.2103345C>T - TSC2_000134 rs45517097 - - - Despoina Kalfakakou
./. 15 - c.251C>T r.(?) p.(Ala84Val) g.2103368C>T - TSC2_000084 rs35660529 - - - Despoina Kalfakakou
./. 30 - c.255C>T r.(=) p.(=) g.2103372C>T - TSC2_000039 rs45517098 - - - Despoina Kalfakakou
./. 5 - c.272C>T r.(?) p.(Pro91Leu) g.2103389C>T - TSC2_000040 rs45482691 - - - Despoina Kalfakakou
./. 15 - c.275A>T r.(?) p.(Glu92Val) g.2103392A>T - TSC2_000059 - - - - Despoina Kalfakakou
./. 11 - c.336+32C>T r.(=) p.(=) g.2103485C>T - TSC2_000034 rs45517103 - - - Despoina Kalfakakou
./. 1 - c.337-43C>T r.(=) p.(=) g.2104254C>T - TSC2_000060 - - - - Despoina Kalfakakou
./. 1 - c.352G>T r.(?) p.(Val118Phe) g.2104312G>T - TSC2_000307 - - - - Despoina Kalfakakou
./. 2 - c.408T>G r.(=) p.(=) g.2104368T>G - TSC2_000035 - - - - Despoina Kalfakakou
./. 4 - c.465C>T r.(=) p.(=) g.2104425C>T - TSC2_000114 rs45444196 - - - Despoina Kalfakakou
./. 1 - c.481+9C>T r.(=) p.(=) g.2104450C>T - TSC2_000061 - - - - Despoina Kalfakakou
./. 1 - c.481+46A>T r.(=) p.(=) g.2104487A>T - TSC2_000283 - - - - Despoina Kalfakakou
./. 1 - c.482-36C>G r.(=) p.(=) g.2105367C>G - TSC2_000062 - - - - Despoina Kalfakakou
./. 1 - c.482-32G>A r.(=) p.(=) g.2105371G>A - TSC2_000254 - - - - Despoina Kalfakakou
./. 2 - c.482-27C>T r.(=) p.(=) g.2105376C>T - TSC2_000166 - - - - Despoina Kalfakakou
./. 2 - c.583A>G r.(?) p.(Ile195Val) g.2105504A>G - TSC2_000178 - - - - Despoina Kalfakakou
./. 1 - c.599+17G>C r.(=) p.(=) g.2105537G>C - TSC2_000297 - - - - Despoina Kalfakakou
./. 2 - c.599+31A>G r.(=) p.(=) g.2105551A>G - TSC2_000259 - - - - Despoina Kalfakakou
./. 2 - c.599+37C>T r.(=) p.(=) g.2105557C>T - TSC2_000153 - - - - Despoina Kalfakakou
./. 1 - c.599+45C>G r.(=) p.(=) g.2105565C>G - TSC2_000245 - - - - Despoina Kalfakakou
./. 17 - c.599+51C>T r.(=) p.(=) g.2105571C>T - TSC2_000008 - - - - Despoina Kalfakakou
./. 1 - c.600-48C>T r.(=) p.(=) g.2106149C>T - TSC2_000042 - - - - Despoina Kalfakakou
./. 1 - c.600-34del r.(=) p.(=) g.2106163del - TSC2_000187 - - - - Despoina Kalfakakou
./. 1 - c.648+1G>T r.spl? p.? g.2106246G>T - TSC2_000228 rs45488893 - - - Despoina Kalfakakou
./. 1 - c.649-29C>T r.(=) p.(=) g.2106616C>T - TSC2_000246 - - - - Despoina Kalfakakou
./. 1 - c.649-25C>T r.(=) p.(=) g.2106620C>T - TSC2_000213 - - - - Despoina Kalfakakou
./. 1 - c.713T>C r.(?) p.(Leu238Pro) g.2106709T>C - TSC2_000145 - - - - Despoina Kalfakakou
./. 12 - c.729C>G r.(=) p.(=) g.2106725C>G - TSC2_000043 rs45473698 - - - Despoina Kalfakakou
./. 1 - c.744C>T r.(=) p.(=) g.2106740C>T - TSC2_000176 - - - - Despoina Kalfakakou
./. 1 - c.774+6G>T r.(=) p.(=) g.2106776G>T - TSC2_000177 - - - - Despoina Kalfakakou
./. 1 - c.774+49G>A r.(=) p.(=) g.2106819G>A - TSC2_000229 - - - - Despoina Kalfakakou
./. 1 - c.775-4G>A r.spl? p.? g.2107102G>A - TSC2_000036 - - - - Despoina Kalfakakou
./. 1 - c.848+24G>A r.(=) p.(=) g.2107203G>A - TSC2_000303 - - - - Despoina Kalfakakou
./. 2 - c.849-46G>A r.(=) p.(=) g.2108702G>A - TSC2_000253 - - - - Despoina Kalfakakou
./. 5 - c.849-24C>T r.(=) p.(=) g.2108724C>T - TSC2_000009 - - - - Despoina Kalfakakou
./. 3 - c.856A>G r.(?) p.(Met286Val) g.2108755A>G - TSC2_000260 rs1800748 - - - Despoina Kalfakakou
./. 1 - c.861G>C r.(?) p.(Glu287Asp) g.2108760G>C - TSC2_000265 - - - - Despoina Kalfakakou
./. 1 - c.886_887del r.(?) p.(Phe298Cysfs*39) g.2108785_2108786del - TSC2_000238 - - - - Despoina Kalfakakou
./. 1 - c.923G>A r.(?) p.(Arg308Gln) g.2108822G>A - TSC2_000154 - - - - Despoina Kalfakakou
./. 2 - c.948G>A r.(=) p.(=) g.2108847G>A - TSC2_000188 rs45517141 - - - Despoina Kalfakakou
./. 1 - c.967T>C r.(?) p.(Phe323Leu) g.2108866T>C - TSC2_000247 - - - - Despoina Kalfakakou
./. 1 - c.975+2T>C r.spl? p.? g.2108876T>C - TSC2_000230 - - - - Despoina Kalfakakou
./. 1 - c.975+7C>T r.(=) p.(=) g.2108881C>T - TSC2_000275 - - - - Despoina Kalfakakou
./. 3 - c.976-21C>G r.(=) p.(=) g.2110650C>G - TSC2_000167 - - - - Despoina Kalfakakou
./. 1 - c.976-17C>A r.(=) p.(=) g.2110654C>A - TSC2_000214 - - - - Despoina Kalfakakou
./. 1 - c.976-10C>T r.(=) p.(=) g.2110661C>T - TSC2_000109 - - - - Despoina Kalfakakou
./. 1 - c.982G>C r.(?) p.(Ala328Pro) g.2110677G>C - TSC2_000231 rs45517152 - - - Despoina Kalfakakou
./. 1 - c.989C>T r.(?) p.(Pro330Leu) g.2110684C>T - TSC2_000285 - - - - Despoina Kalfakakou
./. 1 - c.1066G>C r.(?) p.(Val356Leu) g.2110761G>C - TSC2_000160 - - - - Despoina Kalfakakou
./. 10 - c.1070C>T r.(?) p.(Ala357Val) g.2110765C>T - TSC2_000010 - - - - Despoina Kalfakakou
./. 2 - c.1096G>A r.(?) p.(Glu366Lys) g.2110791G>A - TSC2_000037 rs45517148 - - - Despoina Kalfakakou
./. 4 - c.1119+23G>A r.(=) p.(=) g.2110837G>A - TSC2_000110 - - - - Despoina Kalfakakou
./. 2 - c.1120-47A>G r.(=) p.(=) g.2111825A>G - TSC2_000102 - - - - Despoina Kalfakakou
./. 2 - c.1120-26C>T r.(=) p.(=) g.2111846C>T - TSC2_000044 - - - - Despoina Kalfakakou
./. 2 - c.1143G>A r.(=) p.(=) g.2111895G>A - TSC2_000239 rs45517155 - - - Despoina Kalfakakou
./. 2 - c.1244C>T r.(?) p.(Ala415Val) g.2111996C>T - TSC2_000117 - - - - Despoina Kalfakakou
./. 2 - c.1257+52C>T r.(=) p.(=) g.2112061C>T - TSC2_000092 - - - - Despoina Kalfakakou
./. 1 - c.1258-39G>A r.(=) p.(=) g.2112459G>A - TSC2_000045 - - - - Despoina Kalfakakou
./. 1 - c.1258-17G>A r.(=) p.(=) g.2112481G>A - TSC2_000240 - - - - Despoina Kalfakakou
./. 1 - c.1258-4A>G r.spl? p.? g.2112494A>G - TSC2_000146 - - - - Despoina Kalfakakou
./. 3 - c.1281C>A r.(=) p.(=) g.2112521C>A - TSC2_000046 rs45478892 - - - Despoina Kalfakakou
./. 5 - c.1318G>A r.(?) p.(Gly440Ser) g.2112558G>A - TSC2_000093 rs45484298 - - - Despoina Kalfakakou
./. 2 - c.1361+37G>T r.(=) p.(=) g.2112638G>T - TSC2_000147 - - - - Despoina Kalfakakou
./. 1 - c.1361+45C>G r.(=) p.(=) g.2112646C>G - TSC2_000041 - - - - Despoina Kalfakakou
./. 10 - c.1361+50_1361+53del r.(=) p.(=) g.2112651_2112654del - TSC2_000094 - - - - Despoina Kalfakakou
./. 11 - c.1362-32C>G r.(=) p.(=) g.2112941C>G - TSC2_000011 rs45517166 - - - Despoina Kalfakakou
./. 1 - c.1362-5C>T r.spl? p.? g.2112968C>T - TSC2_000118 - - - - Despoina Kalfakakou
./. 4 - c.1378G>A r.(?) p.(Ala460Thr) g.2112989G>A - TSC2_000161 - - - - Despoina Kalfakakou
./. 1 - c.1443+15G>A r.(=) p.(=) g.2113069G>A - TSC2_000155 - - - - Despoina Kalfakakou
./. 1 - c.1444-41C>T r.(=) p.(=) g.2114232C>T - TSC2_000012 - - - - Despoina Kalfakakou
./. 1 - c.1569C>T r.(=) p.(=) g.2114398C>T - TSC2_000202 - - - - Despoina Kalfakakou
./. 1 - c.1577G>C r.(?) p.(Ser526Thr) g.2114406G>C - TSC2_000047 - - - - Despoina Kalfakakou
./. 5 - c.1593C>T r.(=) p.(=) g.2114422C>T - TSC2_000048 rs45517180 - - - Despoina Kalfakakou
./. 1 - c.1600-1del r.(=) p.(=) g.2115519del - TSC2_000232 - - - - Despoina Kalfakakou
./. 1 - c.1653C>T r.(=) p.(=) g.2115573C>T - TSC2_000295 - - - - Despoina Kalfakakou
./. 1 - c.1689C>T r.(=) p.(=) g.2115609C>T - TSC2_000233 - - - - Despoina Kalfakakou
./. 2 - c.1716+20C>T r.(=) p.(=) g.2115656C>T - TSC2_000201 - - - - Despoina Kalfakakou
./. 1 - c.1716+30C>T r.(=) p.(=) g.2115666C>T - TSC2_000182 - - - - Despoina Kalfakakou
./. 1 - c.1717-38C>T r.(=) p.(=) g.2120419C>T - TSC2_000049 - - - - Despoina Kalfakakou
./. 2 - c.1717-30G>A r.(=) p.(=) g.2120427G>A - TSC2_000162 rs45500703 - - - Despoina Kalfakakou
./. 1 - c.1717-29C>T r.(=) p.(=) g.2120428C>T - TSC2_000116 - - - - Despoina Kalfakakou
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