Unique variants in gene BLM

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

108 entries on 2 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     
./. 8 - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 - - - - Despoina Kalfakakou
./. 3 - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 - - - - Despoina Kalfakakou
./. 4 - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 - - - - Despoina Kalfakakou
./. 1 - c.345G>A r.(=) p.(=) g.91292843G>A - BLM_000091 - - - - Despoina Kalfakakou
./. 1 - c.368A>G r.(?) p.(Gln123Arg) g.91292866A>G - BLM_000092 - - - - Despoina Kalfakakou
./. 1 - c.403G>T r.(?) p.(Ala135Ser) g.91292901G>T - BLM_000101 - - - - Despoina Kalfakakou
./. 2 - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 - - - - Despoina Kalfakakou
./. 1 - c.615G>A r.(=) p.(=) g.91293113G>A - BLM_000019 rs28903082 - - - Despoina Kalfakakou
./. 1 - c.615G>T r.(?) p.(Lys205Asn) g.91293113G>T - BLM_000076 rs28903082 - - - Despoina Kalfakakou
./. 1 - c.696C>A r.(?) p.(Ser232Arg) g.91293194C>A - BLM_000020 - - - - Despoina Kalfakakou
./. 2 - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - - - Despoina Kalfakakou
./. 1 - c.800-28T>A r.(=) p.(=) g.91294989T>A - BLM_000035 - - - - Despoina Kalfakakou
./. 1 - c.808G>A r.(?) p.(Glu270Lys) g.91295025G>A - BLM_000070 - - - - Despoina Kalfakakou
./. 1 - c.822T>C r.(=) p.(=) g.91295039T>C - BLM_000104 - - - - Despoina Kalfakakou
./. 2 - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - - - Despoina Kalfakakou
./. 1 - c.888T>C r.(=) p.(=) g.91295105T>C - BLM_000054 - - - - Despoina Kalfakakou
./. 1 - c.899T>C r.(?) p.(Phe300Ser) g.91295116T>C - BLM_000065 - - - - Despoina Kalfakakou
./. 1 - c.963G>A r.(=) p.(=) g.91298044G>A - BLM_000037 - - - - Despoina Kalfakakou
./. 1 - c.1086C>T r.(=) p.(=) g.91298167C>T - BLM_000038 - - - - Despoina Kalfakakou
./. 2 - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - - - Despoina Kalfakakou
./. 1 - c.1212G>T r.(=) p.(=) g.91303501G>T - BLM_000067 - - - - Despoina Kalfakakou
./. 1 - c.1220+25A>T r.(=) p.(=) g.91303534A>T - BLM_000053 rs28385010 - - - Despoina Kalfakakou
./. 1 - c.1221-23_1221-21del r.(=) p.(=) g.91303801_91303803del - BLM_000041 - - - - Despoina Kalfakakou
./. 1 - c.1221-16T>C r.(=) p.(=) g.91303808T>C - BLM_000058 - - - - Despoina Kalfakakou
./. 1 - c.1229T>C r.(?) p.(Leu410Pro) g.91303832T>C - BLM_000097 - - - - Despoina Kalfakakou
./. 1 - c.1315A>G r.(?) p.(Met439Val) g.91303918A>G - BLM_000071 - - - - Despoina Kalfakakou
./. 2 - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - - - Despoina Kalfakakou
./. 1 - c.1433G>C r.(?) p.(Gly478Ala) g.91304036G>C - BLM_000090 - - - - Despoina Kalfakakou
./. 1 - c.1552T>C r.(?) p.(Ser518Pro) g.91304155T>C - BLM_000081 - - - - Despoina Kalfakakou
./. 5 - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 - - - - Despoina Kalfakakou
./. 30 - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - - - Despoina Kalfakakou
./. 1 - c.1825C>A r.(?) p.(Pro609Thr) g.91304428C>A - BLM_000048 - - - - Despoina Kalfakakou
./. 1 - c.1882+49A>G r.(=) p.(=) g.91304534A>G - BLM_000042 - - - - Despoina Kalfakakou
./. 12 - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - - - Despoina Kalfakakou
./. 1 - c.1934A>G r.(?) p.(Gln645Arg) g.91306247A>G - BLM_000099 - - - - Despoina Kalfakakou
./. 2 - c.2025G>A r.(=) p.(=) g.91306338G>A - BLM_000021 - - - - Despoina Kalfakakou
./. 1 - c.2025G>C r.(=) p.(=) g.91306338G>C - BLM_000093 - - - - Despoina Kalfakakou
./. 1 - c.2075-14T>C r.(=) p.(=) g.91308512T>C - BLM_000014 rs28385026 - - - Despoina Kalfakakou
./. 1 - c.2106T>A r.(=) p.(=) g.91308557T>A - BLM_000073 - - - - Despoina Kalfakakou
./. 18 - c.2119C>T r.(?) p.(Pro707Ser) g.91308570C>T - BLM_000015 - - - - Despoina Kalfakakou
./. 2 - c.2205_2206insT r.(?) p.(Tyr736Leufs*5) g.91310151_91310152insT - BLM_000016 - - - - Despoina Kalfakakou
./. 2 - c.2208T>G r.(?) p.(Tyr736*) g.91310154T>G - BLM_000017 - - - - Despoina Kalfakakou
./. 2 - c.2209C>A r.(?) p.(Leu737Met) g.91310155C>A - BLM_000008 - - - - Despoina Kalfakakou
./. 2 - c.2211G>T r.(=) p.(=) g.91310157G>T - BLM_000009 - - - - Despoina Kalfakakou
./. 2 - c.2212A>C r.(?) p.(Thr738Pro) g.91310158A>C - BLM_000010 - - - - Despoina Kalfakakou
./. 1 - c.2213C>T r.(?) p.(Thr738Ile) g.91310159C>T - BLM_000105 - - - - Despoina Kalfakakou
./. 3 - c.2237C>T r.(?) p.(Ala746Val) g.91310183C>T - BLM_000023 - - - - Despoina Kalfakakou
./. 10 - c.2268A>G r.(=) p.(=) g.91310214A>G - BLM_000043 - - - - Despoina Kalfakakou
./. 2 - c.2333C>G r.(?) p.(Ser778Cys) g.91312388C>G - BLM_000011 - - - - Despoina Kalfakakou
./. 1 - c.2406+22C>T r.(=) p.(=) g.91312483C>T - BLM_000089 - - - - Despoina Kalfakakou
./. 4 - c.2407-32G>A r.(=) p.(=) g.91312636G>A - BLM_000085 - - - - Despoina Kalfakakou
./. 1 - c.2475G>A r.(=) p.(=) g.91312736G>A - BLM_000066 - - - - Despoina Kalfakakou
./. 1 - c.2505C>G r.(=) p.(=) g.91312766C>G - BLM_000107 - - - - Despoina Kalfakakou
./. 1 - c.2555+20G>A r.(=) p.(=) g.91312836G>A - BLM_000077 - - - - Despoina Kalfakakou
./. 1 - c.2662+36A>T r.(=) p.(=) g.91326194A>T - BLM_000049 - - - - Despoina Kalfakakou
./. 1 - c.2746C>G r.(?) p.(Leu916Val) g.91328234C>G - BLM_000106 - - - - Despoina Kalfakakou
./. 1 - c.2868G>A r.(=) p.(=) g.91333923G>A - BLM_000087 - - - - Despoina Kalfakakou
./. 1 - c.2898C>G r.(=) p.(=) g.91333953C>G - BLM_000061 - - - - Despoina Kalfakakou
./. 1 - c.2983T>A r.(?) p.(Tyr995Asn) g.91334038T>A - BLM_000094 - - - - Despoina Kalfakakou
./. 1 - c.3019+11C>A r.(=) p.(=) g.91334085C>A - BLM_000062 - - - - Despoina Kalfakakou
./. 8 - c.3019+17T>C r.(=) p.(=) g.91334091T>C - BLM_000003 - - - - Despoina Kalfakakou
./. 1 - c.3019+21G>A r.(=) p.(=) g.91334095G>A - BLM_000012 - - - - Despoina Kalfakakou
./. 2 - c.3019+50T>G r.(=) p.(=) g.91334124T>G - BLM_000063 - - - - Despoina Kalfakakou
./. 1 - c.3020-23A>G r.(=) p.(=) g.91337374A>G - BLM_000095 - - - - Despoina Kalfakakou
./. 1 - c.3207A>G r.(=) p.(=) g.91337584A>G - BLM_000102 - - - - Despoina Kalfakakou
./. 2 - c.3211-51T>G r.(=) p.(=) g.91341369T>G - BLM_000050 - - - - Despoina Kalfakakou
./. 1 - c.3211-14C>G r.(=) p.(=) g.91341406C>G - BLM_000068 - - - - Despoina Kalfakakou
./. 1 - c.3212A>G r.(?) p.(Asp1071Gly) g.91341421A>G - BLM_000064 - - - - Despoina Kalfakakou
./. 1 - c.3248G>A r.(?) p.(Ser1083Asn) g.91341457G>A - BLM_000024 - - - - Despoina Kalfakakou
./. 2 - c.3313C>G r.(?) p.(Pro1105Ala) g.91341522C>G - BLM_000056 - - - - Despoina Kalfakakou
./. 1 - c.3358+21G>T r.(=) p.(=) g.91341588G>T - BLM_000051 - - - - Despoina Kalfakakou
./. 1 - c.3359-40C>G r.(=) p.(=) g.91346711C>G - BLM_000025 - - - - Despoina Kalfakakou
./. 1 - c.3359-39G>A r.(=) p.(=) g.91346712G>A - BLM_000013 - - - - Despoina Kalfakakou
./. 1 - c.3359-27A>C r.(=) p.(=) g.91346724A>C - BLM_000026 - - - - Despoina Kalfakakou
./. 1 - c.3359-26T>C r.(=) p.(=) g.91346725T>C - BLM_000100 - - - - Despoina Kalfakakou
./. 1 - c.3359-25C>G r.(=) p.(=) g.91346726C>G - BLM_000069 - - - - Despoina Kalfakakou
./. 1 - c.3403T>C r.(?) p.(Ser1135Pro) g.91346795T>C - BLM_000052 - - - - Despoina Kalfakakou
./. 2 - c.3416G>C r.(?) p.(Arg1139Pro) g.91346808G>C - BLM_000072 - - - - Despoina Kalfakakou
./. 1 - c.3558+9_3558+10del r.(=) p.(=) g.91346959_91346960del - BLM_000045 - - - - Despoina Kalfakakou
./. 1 - c.3558+29A>G r.(=) p.(=) g.91346979A>G - BLM_000027 - - - - Despoina Kalfakakou
./. 1 - c.3559-46A>G r.(=) p.(=) g.91347351A>G - BLM_000079 - - - - Despoina Kalfakakou
./. 2 - c.3613G>A r.(?) p.(Val1205Ile) g.91347451G>A - BLM_000028 rs28385141 - - - Despoina Kalfakakou
./. 12 - c.3625T>A r.(?) p.(Ser1209Thr) g.91347463T>A - BLM_000004 rs1801256 - - - Despoina Kalfakakou
./. 1 - c.3744G>A r.(=) p.(=) g.91347582G>A - BLM_000005 - - - - Despoina Kalfakakou
./. 1 - c.3751+27G>A r.(=) p.(=) g.91347616G>A - BLM_000040 - - - - Despoina Kalfakakou
./. 1 - c.3751+45C>A r.(=) p.(=) g.91347634C>A - BLM_000080 - - - - Despoina Kalfakakou
./. 4 - c.3752-13T>G r.(=) p.(=) g.91352354T>G - BLM_000084 - - - - Despoina Kalfakakou
./. 1 - c.3769C>T r.(?) p.(Pro1257Ser) g.91352384C>T - BLM_000046 - - - - Despoina Kalfakakou
./. 2 - c.3798T>G r.(=) p.(=) g.91352413T>G - BLM_000029 - - - - Despoina Kalfakakou
./. 4 - c.3849G>A r.(=) p.(=) g.91352464G>A - BLM_000030 - - - - Despoina Kalfakakou
./. 1 - c.3867A>G r.(=) p.(=) g.91352482A>G - BLM_000088 - - - - Despoina Kalfakakou
./. 1 - c.3875-50C>T r.(=) p.(=) g.91354385C>T - BLM_000082 - - - - Despoina Kalfakakou
./. 2 - c.3875-49G>A r.(=) p.(=) g.91354386G>A - BLM_000022 - - - - Despoina Kalfakakou
./. 1 - c.3875-38C>T r.(=) p.(=) g.91354397C>T - BLM_000086 rs28385157 - - - Despoina Kalfakakou
./. 1 - c.3879A>G r.(=) p.(=) g.91354439A>G - BLM_000098 rs28377085 - - - Despoina Kalfakakou
./. 1 - c.3923G>A r.(?) p.(Gly1308Glu) g.91354483G>A - BLM_000108 - - - - Despoina Kalfakakou
./. 1 - c.3933C>T r.(=) p.(=) g.91354493C>T - BLM_000006 - - - - Despoina Kalfakakou
./. 1 - c.3949G>A r.(?) p.(Glu1317Lys) g.91354509G>A - BLM_000078 - - - - Despoina Kalfakakou
./. 1 - c.4052C>T r.(?) p.(Ala1351Val) g.91354612C>T - BLM_000083 - - - - Despoina Kalfakakou
./. 34 - c.4076+4T>G r.spl? p.? g.91354640T>G - BLM_000007 - - - - Despoina Kalfakakou
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