All transcript variants in gene BLM

Information The variants shown are described using the NM_000057.2 transcript reference sequence.

271 entries on 3 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     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 - - - - Despoina Kalfakakou
./. - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 - - - - Despoina Kalfakakou
./. - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 - - - - Despoina Kalfakakou
./. - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 - - - - Despoina Kalfakakou
./. - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 - - - - Despoina Kalfakakou
./. - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 - - - - Despoina Kalfakakou
./. - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 - - - - Despoina Kalfakakou
./. - c.345G>A r.(=) p.(=) g.91292843G>A - BLM_000091 - - - - Despoina Kalfakakou
./. - c.368A>G r.(?) p.(Gln123Arg) g.91292866A>G - BLM_000092 - - - - Despoina Kalfakakou
./. - c.403G>T r.(?) p.(Ala135Ser) g.91292901G>T - BLM_000101 - - - - Despoina Kalfakakou
./. - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 - - - - Despoina Kalfakakou
./. - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 - - - - Despoina Kalfakakou
./. - c.615G>A r.(=) p.(=) g.91293113G>A - BLM_000019 rs28903082 - - - Despoina Kalfakakou
./. - c.615G>T r.(?) p.(Lys205Asn) g.91293113G>T - BLM_000076 rs28903082 - - - Despoina Kalfakakou
./. - c.696C>A r.(?) p.(Ser232Arg) g.91293194C>A - BLM_000020 - - - - Despoina Kalfakakou
./. - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - - - Despoina Kalfakakou
./. - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - - - Despoina Kalfakakou
./. - c.800-28T>A r.(=) p.(=) g.91294989T>A - BLM_000035 - - - - Despoina Kalfakakou
./. - c.808G>A r.(?) p.(Glu270Lys) g.91295025G>A - BLM_000070 - - - - Despoina Kalfakakou
./. - c.822T>C r.(=) p.(=) g.91295039T>C - BLM_000104 - - - - Despoina Kalfakakou
./. - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - - - Despoina Kalfakakou
./. - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - - - Despoina Kalfakakou
./. - c.888T>C r.(=) p.(=) g.91295105T>C - BLM_000054 - - - - Despoina Kalfakakou
./. - c.899T>C r.(?) p.(Phe300Ser) g.91295116T>C - BLM_000065 - - - - Despoina Kalfakakou
./. - c.963G>A r.(=) p.(=) g.91298044G>A - BLM_000037 - - - - Despoina Kalfakakou
./. - c.1086C>T r.(=) p.(=) g.91298167C>T - BLM_000038 - - - - Despoina Kalfakakou
./. - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - - - Despoina Kalfakakou
./. - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - - - Despoina Kalfakakou
./. - c.1212G>T r.(=) p.(=) g.91303501G>T - BLM_000067 - - - - Despoina Kalfakakou
./. - c.1220+25A>T r.(=) p.(=) g.91303534A>T - BLM_000053 rs28385010 - - - Despoina Kalfakakou
./. - c.1221-23_1221-21del r.(=) p.(=) g.91303801_91303803del - BLM_000041 - - - - Despoina Kalfakakou
./. - c.1221-16T>C r.(=) p.(=) g.91303808T>C - BLM_000058 - - - - Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Leu410Pro) g.91303832T>C - BLM_000097 - - - - Despoina Kalfakakou
./. - c.1315A>G r.(?) p.(Met439Val) g.91303918A>G - BLM_000071 - - - - Despoina Kalfakakou
./. - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - - - Despoina Kalfakakou
./. - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - - - Despoina Kalfakakou
./. - c.1433G>C r.(?) p.(Gly478Ala) g.91304036G>C - BLM_000090 - - - - Despoina Kalfakakou
./. - c.1552T>C r.(?) p.(Ser518Pro) g.91304155T>C - BLM_000081 - - - - Despoina Kalfakakou
./. - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. - c.1825C>A r.(?) p.(Pro609Thr) g.91304428C>A - BLM_000048 - - - - Despoina Kalfakakou
./. - c.1882+49A>G r.(=) p.(=) g.91304534A>G - BLM_000042 - - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. - c.1934A>G r.(?) p.(Gln645Arg) g.91306247A>G - BLM_000099 - - - - Despoina Kalfakakou
./. - c.2025G>A r.(=) p.(=) g.91306338G>A - BLM_000021 - - - - Despoina Kalfakakou
./. - c.2025G>A r.(=) p.(=) g.91306338G>A - BLM_000021 - - - - Despoina Kalfakakou
./. - c.2025G>C r.(=) p.(=) g.91306338G>C - BLM_000093 - - - - Despoina Kalfakakou
./. - c.2075-14T>C r.(=) p.(=) g.91308512T>C - BLM_000014 rs28385026 - - - Despoina Kalfakakou
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