All transcript variants in gene DIS3L2

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

382 entries on 4 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     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.52+21T>G r.(=) p.(=) g.232879710T>G - DIS3L2_000053 - - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou
?/? - c.211-48C>T r.(=) p.(=) g.232888939C>T - DIS3L2_000038 - - Germline - - - - Despoina Kalfakakou
-/- - c.263C>T r.(?) p.(Pro88Leu) g.232889039C>T - DIS3L2_000052 rs202059499 - Germline - - - - Despoina Kalfakakou
-/- - c.263C>T r.(?) p.(Pro88Leu) g.232889039C>T - DIS3L2_000052 rs202059499 - Germline - - - - Despoina Kalfakakou
?/? - c.264+13A>C r.(=) p.(=) g.232889053A>C - DIS3L2_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.264+51A>T r.(=) p.(=) g.232889091A>T - DIS3L2_000099 - - Germline - - - - Despoina Kalfakakou
?/? - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 - - Germline - - - - Despoina Kalfakakou
?/? - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 - - Germline - - - - Despoina Kalfakakou
?/? - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 - - Germline - - - - Despoina Kalfakakou
?/? - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 - - Germline - - - - Despoina Kalfakakou
?/? - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.288T>C r.(=) p.(=) g.232894712T>C - DIS3L2_000063 rs746032745 - Germline - - - - Despoina Kalfakakou
-?/-? - c.288T>C r.(=) p.(=) g.232894712T>C - DIS3L2_000063 rs746032745 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
?/? - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 rs199857926 - Germline - - - - Despoina Kalfakakou
-?/-? - c.309T>C r.(=) p.(=) g.232894733T>C - DIS3L2_000098 rs774819151 - Germline - - - - Despoina Kalfakakou
-?/-? - c.336C>T r.(=) p.(=) g.232894760C>T - DIS3L2_000069 rs755653632 - Germline - - - - Despoina Kalfakakou
?/? - c.337G>C r.(?) p.(Val113Leu) g.232894761G>C - DIS3L2_000072 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.351C>T r.(=) p.(=) g.232894775C>T - DIS3L2_000036 rs141249322 - Germline - - - - Despoina Kalfakakou
-?/-? - c.351C>T r.(=) p.(=) g.232894775C>T - DIS3L2_000036 rs141249322 - Germline - - - - Despoina Kalfakakou
-?/-? - c.351C>T r.(=) p.(=) g.232894775C>T - DIS3L2_000036 rs141249322 - Germline - - - - Despoina Kalfakakou
?/? - c.366+28C>A r.(=) p.(=) g.232894818C>A - DIS3L2_000111 - - Germline - - - - Despoina Kalfakakou
?/? - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.388G>A r.(?) p.(Asp130Asn) g.232952218G>A - DIS3L2_000059 - - Germline - - - - Despoina Kalfakakou
?/? - c.406G>C r.(?) p.(Ala136Pro) g.232952236G>C - DIS3L2_000110 - - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
-/- - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou
?/? - c.453G>C r.(=) p.(=) g.232952283G>C - DIS3L2_000068 - - Germline - - - - Despoina Kalfakakou
?/? - c.453G>C r.(=) p.(=) g.232952283G>C - DIS3L2_000068 - - Germline - - - - Despoina Kalfakakou
?/? - c.453G>C r.(=) p.(=) g.232952283G>C - DIS3L2_000068 - - Germline - - - - Despoina Kalfakakou
?/? - c.513T>C r.(=) p.(=) g.232952343T>C - DIS3L2_000016 - - Germline - - - - Despoina Kalfakakou
?/? - c.524C>T r.(?) p.(Ser175Leu) g.232952354C>T - DIS3L2_000096 rs1559615265 - Germline - - - - Despoina Kalfakakou
?/? - c.566G>C r.(?) p.(Gly189Ala) g.232952396G>C - DIS3L2_000089 rs755258805 - Germline - - - - Despoina Kalfakakou
?/? - c.566G>C r.(?) p.(Gly189Ala) g.232952396G>C - DIS3L2_000089 rs755258805 - Germline - - - - Despoina Kalfakakou
?/? - c.568G>A r.(?) p.(Val190Ile) g.232952398G>A - DIS3L2_000087 - - Germline - - - - Despoina Kalfakakou
?/? - c.581C>T r.(?) p.(Ser194Leu) g.232952411C>T - DIS3L2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.666A>C r.(?) p.(Arg222Ser) g.232995393A>C - DIS3L2_000057 rs751721861 - Germline - - - - Despoina Kalfakakou
?/? - c.666A>C r.(?) p.(Arg222Ser) g.232995393A>C - DIS3L2_000057 rs751721861 - Germline - - - - Despoina Kalfakakou
?/? - c.666A>C r.(?) p.(Arg222Ser) g.232995393A>C - DIS3L2_000057 rs751721861 - Germline - - - - Despoina Kalfakakou
?/? - c.666A>C r.(?) p.(Arg222Ser) g.232995393A>C - DIS3L2_000057 rs751721861 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
-/- - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou
?/? - c.702+39T>G r.(=) p.(=) g.232995468T>G - DIS3L2_000014 - - Germline - - - - Despoina Kalfakakou
?/? - c.702+39T>G r.(=) p.(=) g.232995468T>G - DIS3L2_000014 - - Germline - - - - Despoina Kalfakakou
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