All transcript variants in gene BLM

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

286 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     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou
?/? - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou
?/? - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou
?/? - c.324G>C r.(?) p.(Leu108Phe) g.91292822G>C - BLM_000109 rs1198433222 - Germline - - - - Despoina Kalfakakou
-?/-? - c.345G>A r.(=) p.(=) g.91292843G>A - BLM_000091 rs374578971 - Germline - - - - Despoina Kalfakakou
?/? - c.368A>G r.(?) p.(Gln123Arg) g.91292866A>G - BLM_000092 rs371223446 - Germline - - - - Despoina Kalfakakou
?/? - c.403G>T r.(?) p.(Ala135Ser) g.91292901G>T - BLM_000101 rs373832397 - Germline - - - - Despoina Kalfakakou
?/? - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - Despoina Kalfakakou
?/? - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - Despoina Kalfakakou
-/- - c.615G>A r.(=) p.(=) g.91293113G>A - BLM_000019 rs28903082 - Germline - - - - Despoina Kalfakakou
?/? - c.615G>T r.(?) p.(Lys205Asn) g.91293113G>T - BLM_000076 rs28903082 - Germline - - - - Despoina Kalfakakou
?/? - c.696C>A r.(?) p.(Ser232Arg) g.91293194C>A - BLM_000020 rs201845548 - Germline - - - - Despoina Kalfakakou
?/? - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - Germline - - - - Despoina Kalfakakou
?/? - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - Germline - - - - Despoina Kalfakakou
?/? - c.800-28T>A r.(=) p.(=) g.91294989T>A - BLM_000035 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.807C>T r.(=) p.(=) g.91295024C>T - BLM_000110 rs147850738 - Germline - - - - Despoina Kalfakakou
?/? - c.808G>A r.(?) p.(Glu270Lys) g.91295025G>A - BLM_000070 rs762053925 - Germline - - - - Despoina Kalfakakou
-?/-? - c.822T>C r.(=) p.(=) g.91295039T>C - BLM_000104 rs1596221010 - Germline - - - - Despoina Kalfakakou
?/? - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - Germline - - - - Despoina Kalfakakou
?/? - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.888T>C r.(=) p.(=) g.91295105T>C - BLM_000054 rs139277089 - Germline - - - - Despoina Kalfakakou
?/? - c.899T>C r.(?) p.(Phe300Ser) g.91295116T>C - BLM_000065 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.963G>A r.(=) p.(=) g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - Despoina Kalfakakou
-?/-? - c.963G>A r.(=) p.(=) g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1086C>T r.(=) p.(=) g.91298167C>T - BLM_000038 rs375632163 - Germline - - - - Despoina Kalfakakou
?/? - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - Germline - - - - Despoina Kalfakakou
?/? - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - Germline - - - - Despoina Kalfakakou
?/? - c.1212G>T r.(=) p.(=) g.91303501G>T - BLM_000067 - - Germline - - - - Despoina Kalfakakou
?/? - c.1220+25A>T r.(=) p.(=) g.91303534A>T - BLM_000053 rs28385010 - Germline - - - - Despoina Kalfakakou
?/? - c.1221-23_1221-21del r.(=) p.(=) g.91303801_91303803del - BLM_000041 - - Germline - - - - Despoina Kalfakakou
?/? - c.1221-16T>C r.(=) p.(=) g.91303808T>C - BLM_000058 - - Germline - - - - Despoina Kalfakakou
?/? - c.1229T>C r.(?) p.(Leu410Pro) g.91303832T>C - BLM_000097 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.1315A>G r.(?) p.(Met439Val) g.91303918A>G - BLM_000071 rs201231857 - Germline - - - - Despoina Kalfakakou
?/? - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - Germline - - - - Despoina Kalfakakou
?/? - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - Germline - - - - Despoina Kalfakakou
?/? - c.1433G>C r.(?) p.(Gly478Ala) g.91304036G>C - BLM_000090 rs759810567 - Germline - - - - Despoina Kalfakakou
?/? - c.1552T>C r.(?) p.(Ser518Pro) g.91304155T>C - BLM_000081 - - Germline - - - - Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
+/+ - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
-/- - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
?/? - c.1825C>A r.(?) p.(Pro609Thr) g.91304428C>A - BLM_000048 rs770255643 - Germline - - - - Despoina Kalfakakou
?/? - c.1882+49A>G r.(=) p.(=) g.91304534A>G - BLM_000042 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
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