Unique variants in gene DIS3L2

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

105 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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.52+21T>G r.(=) p.(=) g.232879710T>G - DIS3L2_000053 - - - - Despoina Kalfakakou
./. 11 - c.52+47A>T r.(=) p.(=) g.232879736A>T - DIS3L2_000007 rs78129899 - - - Despoina Kalfakakou
./. 1 - c.211-48C>T r.(=) p.(=) g.232888939C>T - DIS3L2_000038 - - - - Despoina Kalfakakou
./. 1 - c.263C>T r.(?) p.(Pro88Leu) g.232889039C>T - DIS3L2_000052 - - - - Despoina Kalfakakou
./. 1 - c.264+13A>C r.(=) p.(=) g.232889053A>C - DIS3L2_000017 - - - - Despoina Kalfakakou
./. 1 - c.264+51A>T r.(=) p.(=) g.232889091A>T - DIS3L2_000099 - - - - Despoina Kalfakakou
./. 4 - c.265-45T>C r.(=) p.(=) g.232894644T>C - DIS3L2_000062 rs77132797 - - - Despoina Kalfakakou
./. 2 - c.288T>C r.(=) p.(=) g.232894712T>C - DIS3L2_000063 - - - - Despoina Kalfakakou
./. 15 - c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T - DIS3L2_000051 - - - - Despoina Kalfakakou
./. 1 - c.309T>C r.(=) p.(=) g.232894733T>C - DIS3L2_000098 - - - - Despoina Kalfakakou
./. 1 - c.336C>T r.(=) p.(=) g.232894760C>T - DIS3L2_000069 - - - - Despoina Kalfakakou
./. 1 - c.337G>C r.(?) p.(Val113Leu) g.232894761G>C - DIS3L2_000072 - - - - Despoina Kalfakakou
./. 3 - c.351C>T r.(=) p.(=) g.232894775C>T - DIS3L2_000036 - - - - Despoina Kalfakakou
./. 4 - c.366+44T>C r.(=) p.(=) g.232894834T>C - DIS3L2_000040 - - - - Despoina Kalfakakou
./. 1 - c.388G>A r.(?) p.(Asp130Asn) g.232952218G>A - DIS3L2_000059 - - - - Despoina Kalfakakou
./. 10 - c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G - DIS3L2_000018 - - - - Despoina Kalfakakou
./. 3 - c.453G>C r.(=) p.(=) g.232952283G>C - DIS3L2_000068 - - - - Despoina Kalfakakou
./. 1 - c.513T>C r.(=) p.(=) g.232952343T>C - DIS3L2_000016 - - - - Despoina Kalfakakou
./. 1 - c.524C>T r.(?) p.(Ser175Leu) g.232952354C>T - DIS3L2_000096 - - - - Despoina Kalfakakou
./. 2 - c.566G>C r.(?) p.(Gly189Ala) g.232952396G>C - DIS3L2_000089 - - - - Despoina Kalfakakou
./. 1 - c.568G>A r.(?) p.(Val190Ile) g.232952398G>A - DIS3L2_000087 - - - - Despoina Kalfakakou
./. 1 - c.581C>T r.(?) p.(Ser194Leu) g.232952411C>T - DIS3L2_000037 - - - - Despoina Kalfakakou
./. 4 - c.666A>C r.(?) p.(Arg222Ser) g.232995393A>C - DIS3L2_000057 - - - - Despoina Kalfakakou
./. 17 - c.702+10T>G r.(=) p.(=) g.232995439T>G - DIS3L2_000015 - - - - Despoina Kalfakakou
./. 10 - c.702+39T>G r.(=) p.(=) g.232995468T>G - DIS3L2_000014 rs75968600 - - - Despoina Kalfakakou
./. 1 - c.702+45C>G r.(=) p.(=) g.232995474C>G - DIS3L2_000046 rs79182410 - - - Despoina Kalfakakou
./. 3 - c.703-25T>C r.(=) p.(=) g.233001157T>C - DIS3L2_000079 - - - - Despoina Kalfakakou
./. 1 - c.777C>T r.(=) p.(=) g.233001256C>T - DIS3L2_000104 - - - - Despoina Kalfakakou
./. 4 - c.795C>T r.(=) p.(=) g.233001274C>T - DIS3L2_000058 - - - - Despoina Kalfakakou
./. 1 - c.874C>T r.(?) p.(Arg292Trp) g.233001353C>T - DIS3L2_000047 - - - - Despoina Kalfakakou
./. 3 - c.950+49T>C r.(=) p.(=) g.233001478T>C - DIS3L2_000060 - - - - Despoina Kalfakakou
./. 9 - c.1023C>T r.(=) p.(=) g.233028241C>T - DIS3L2_000010 - - - - Despoina Kalfakakou
./. 1 - c.1124+31A>G r.(=) p.(=) g.233028373A>G - DIS3L2_000082 - - - - Despoina Kalfakakou
./. 1 - c.1198G>A r.(?) p.(Ala400Thr) g.233075109G>A - DIS3L2_000035 - - - - Despoina Kalfakakou
./. 1 - c.1204+37G>A r.(=) p.(=) g.233075152G>A - DIS3L2_000092 - - - - Despoina Kalfakakou
./. 1 - c.1317+15C>G r.(=) p.(=) g.233103370C>G - DIS3L2_000074 - - - - Despoina Kalfakakou
./. 2 - c.1389_1391del r.(?) p.(Phe464del) g.233114020_233114022del - DIS3L2_000012 - - - - Despoina Kalfakakou
./. 10 - c.1447C>G r.(?) p.(Arg483Gly) g.233127938C>G - DIS3L2_000056 - - - - Despoina Kalfakakou
./. 1 - c.1529C>A r.(?) p.(Ala510Glu) g.233128020C>A - DIS3L2_000080 - - - - Despoina Kalfakakou
./. 1 - c.1530G>A r.(=) p.(=) g.233128021G>A - DIS3L2_000100 - - - - Despoina Kalfakakou
./. 1 - c.1572del r.(?) p.(Val525Tyrfs*68) g.233128063del - DIS3L2_000093 - - - - Despoina Kalfakakou
./. 3 - c.1581+18C>T r.(=) p.(=) g.233128090C>T - DIS3L2_000064 - - - - Despoina Kalfakakou
./. 1 - c.1581+28A>G r.(=) p.(=) g.233128100A>G - DIS3L2_000083 - - - - Despoina Kalfakakou
./. 1 - c.1581+36698G>A r.(=) p.(=) g.233164770G>A - DIS3L2_000094 - - - - Despoina Kalfakakou
./. 1 - c.1581+36705G>A r.(=) p.(=) g.233164777G>A - DIS3L2_000066 - - - - Despoina Kalfakakou
./. 2 - c.1581+36710C>T r.(=) p.(=) g.233164782C>T - DIS3L2_000070 - - - - Despoina Kalfakakou
./. 2 - c.1581+36740G>T r.(=) p.(=) g.233164812G>T - DIS3L2_000032 - - - - Despoina Kalfakakou
./. 2 - c.1581+36745G>A r.(=) p.(=) g.233164817G>A - DIS3L2_000011 - - - - Despoina Kalfakakou
./. 1 - c.1581+36787T>C r.(=) p.(=) g.233164859T>C - DIS3L2_000055 - - - - Despoina Kalfakakou
./. 1 - c.1582-13570_1582-13569insC r.(=) p.(=) g.233194485_233194486insC - DIS3L2_000043 - - - - Despoina Kalfakakou
./. 1 - c.1582-13562G>A r.(=) p.(=) g.233194493G>A - DIS3L2_000075 - - - - Despoina Kalfakakou
./. 1 - c.1582-13437C>T r.(=) p.(=) g.233194618C>T - DIS3L2_000078 - - - - Despoina Kalfakakou
./. 1 - c.1582-13364C>T r.(=) p.(=) g.233194691C>T - DIS3L2_000091 - - - - Despoina Kalfakakou
./. 2 - c.1582-13361A>C r.(=) p.(=) g.233194694A>C - DIS3L2_000067 - - - - Despoina Kalfakakou
./. 3 - c.1582-13349T>C r.(=) p.(=) g.233194706T>C - DIS3L2_000033 - - - - Despoina Kalfakakou
./. 1 - c.1582-12696C>T r.(=) p.(=) g.233195359C>T - DIS3L2_000105 - - - - Despoina Kalfakakou
./. 1 - c.1582-12679T>C r.(=) p.(=) g.233195376T>C - DIS3L2_000076 - - - - Despoina Kalfakakou
./. 1 - c.1582-12667A>G r.(=) p.(=) g.233195388A>G - DIS3L2_000073 - - - - Despoina Kalfakakou
./. 1 - c.1582-12636T>G r.(=) p.(=) g.233195419T>G - DIS3L2_000034 - - - - Despoina Kalfakakou
./. 26 - c.1582-12541C>G r.(=) p.(=) g.233195514C>G - DIS3L2_000013 - - - - Despoina Kalfakakou
./. 1 - c.1582-12525A>G r.(=) p.(=) g.233195530A>G - DIS3L2_000041 - - - - Despoina Kalfakakou
./. 10 - c.1582-9551T>C r.(=) p.(=) g.233198504T>C - DIS3L2_000008 - - - - Despoina Kalfakakou
./. 3 - c.1582-9467A>G r.(=) p.(=) g.233198588A>G - DIS3L2_000029 - - - - Despoina Kalfakakou
./. 1 - c.1582-9465C>T r.(=) p.(=) g.233198590C>T - DIS3L2_000030 - - - - Despoina Kalfakakou
./. 1 - c.1582-9464G>A r.(=) p.(=) g.233198591G>A - DIS3L2_000031 - - - - Despoina Kalfakakou
./. 2 - c.1582-9458C>G r.(=) p.(=) g.233198597C>G - DIS3L2_000009 - - - - Despoina Kalfakakou
./. 3 - c.1582-9449C>T r.(=) p.(=) g.233198606C>T - DIS3L2_000019 - - - - Despoina Kalfakakou
./. 1 - c.1582-9446G>A r.(=) p.(=) g.233198609G>A - DIS3L2_000090 - - - - Despoina Kalfakakou
./. 1 - c.1582-9437G>T r.(=) p.(=) g.233198618G>T - DIS3L2_000061 - - - - Despoina Kalfakakou
./. 1 - c.1582-9377C>T r.(=) p.(=) g.233198678C>T - DIS3L2_000095 - - - - Despoina Kalfakakou
./. 2 - c.1582-9339G>C r.(=) p.(=) g.233198716G>C - DIS3L2_000020 - - - - Despoina Kalfakakou
./. 1 - c.1582-9015_1582-9008del r.(=) p.(=) g.233199040_233199047del - DIS3L2_000048 - - - - Despoina Kalfakakou
./. 1 - c.1582-8999C>T r.(=) p.(=) g.233199056C>T - DIS3L2_000102 - - - - Despoina Kalfakakou
./. 1 - c.1582-8990C>T r.(=) p.(=) g.233199065C>T - DIS3L2_000042 - - - - Despoina Kalfakakou
./. 1 - c.1582-8969G>A r.(=) p.(=) g.233199086G>A - DIS3L2_000084 - - - - Despoina Kalfakakou
./. 2 - c.1582-8956A>G r.(=) p.(=) g.233199099A>G - DIS3L2_000044 - - - - Despoina Kalfakakou
./. 1 - c.1582-8952C>T r.(=) p.(=) g.233199103C>T - DIS3L2_000081 - - - - Despoina Kalfakakou
./. 2 - c.1582-8951G>A r.(=) p.(=) g.233199104G>A - DIS3L2_000021 - - - - Despoina Kalfakakou
./. 1 - c.1582-8941C>G r.(=) p.(=) g.233199114C>G - DIS3L2_000001 - - - - Despoina Kalfakakou
./. 2 - c.1582-8915C>T r.(=) p.(=) g.233199140C>T - DIS3L2_000077 - - - - Despoina Kalfakakou
./. 1 - c.1582-8908C>T r.(=) p.(=) g.233199147C>T - DIS3L2_000085 - - - - Despoina Kalfakakou
./. 3 - c.1582-8900G>A r.(=) p.(=) g.233199155G>A - DIS3L2_000086 - - - - Despoina Kalfakakou
./. 1 - c.1582-8709T>C r.(=) p.(=) g.233199346T>C - DIS3L2_000065 - - - - Despoina Kalfakakou
./. 1 - c.1582-8655C>T r.(=) p.(=) g.233199400C>T - DIS3L2_000101 - - - - Despoina Kalfakakou
./. 1 - c.1582-8651C>T r.(=) p.(=) g.233199404C>T - DIS3L2_000002 - - - - Despoina Kalfakakou
./. 3 - c.1582-8634C>T r.(=) p.(=) g.233199421C>T - DIS3L2_000003 - - - - Despoina Kalfakakou
./. 3 - c.1582-8633G>A r.(=) p.(=) g.233199422G>A - DIS3L2_000054 - - - - Despoina Kalfakakou
./. 1 - c.1582-8610C>T r.(=) p.(=) g.233199445C>T - DIS3L2_000049 - - - - Despoina Kalfakakou
./. 2 - c.1582-8594G>A r.(=) p.(=) g.233199461G>A - DIS3L2_000022 - - - - Despoina Kalfakakou
./. 5 - c.1582-8583C>T r.(=) p.(=) g.233199472C>T - DIS3L2_000050 rs56365137 - - - Despoina Kalfakakou
./. 58 - c.1582-8582G>A r.(=) p.(=) g.233199473G>A - DIS3L2_000004 - - - - Despoina Kalfakakou
./. 14 - c.1582-8578A>G r.(=) p.(=) g.233199477A>G - DIS3L2_000005 rs2697797 - - - Despoina Kalfakakou
./. 8 - c.1582-8563A>G r.(=) p.(=) g.233199492A>G - DIS3L2_000023 - - - - Despoina Kalfakakou
./. 1 - c.1582-8559C>T r.(=) p.(=) g.233199496C>T - DIS3L2_000024 - - - - Despoina Kalfakakou
./. 1 - c.1582-7558G>T r.(=) p.(=) g.233200497G>T - DIS3L2_000103 - - - - Despoina Kalfakakou
./. 1 - c.1582-7451C>G r.(=) p.(=) g.233200604C>G - DIS3L2_000025 - - - - Despoina Kalfakakou
./. 2 - c.1582-6814C>T r.(=) p.(=) g.233201241C>T - DIS3L2_000026 - - - - Despoina Kalfakakou
./. 1 - c.1582-6813A>T r.(=) p.(=) g.233201242A>T - DIS3L2_000071 - - - - Despoina Kalfakakou
./. 1 - c.1582-6810G>A r.(=) p.(=) g.233201245G>A - DIS3L2_000097 - - - - Despoina Kalfakakou
./. 4 - c.1582-6704_1582-6696del r.(=) p.(=) g.233201351_233201359del - DIS3L2_000045 - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2     Next › Last »