Unique variants in gene BLM

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

111 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     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 9 - c.11T>C r.(?) p.(Val4Ala) g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.191A>T r.(?) p.(Asp64Val) g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.274A>G r.(?) p.(Asn92Asp) g.91292772A>G - BLM_000018 rs200690226 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.324G>C r.(?) p.(Leu108Phe) g.91292822G>C - BLM_000109 rs1198433222 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.345G>A r.(=) p.(=) g.91292843G>A - BLM_000091 rs374578971 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.368A>G r.(?) p.(Gln123Arg) g.91292866A>G - BLM_000092 rs371223446 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.403G>T r.(?) p.(Ala135Ser) g.91292901G>T - BLM_000101 rs373832397 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.545C>T r.(?) p.(Thr182Ile) g.91293043C>T - BLM_000034 rs749838731 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.615G>A r.(=) p.(=) g.91293113G>A - BLM_000019 rs28903082 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.615G>T r.(?) p.(Lys205Asn) g.91293113G>T - BLM_000076 rs28903082 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.696C>A r.(?) p.(Ser232Arg) g.91293194C>A - BLM_000020 rs201845548 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.799+38G>A r.(=) p.(=) g.91293335G>A - BLM_000057 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.800-28T>A r.(=) p.(=) g.91294989T>A - BLM_000035 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.807C>T r.(=) p.(=) g.91295024C>T - BLM_000110 rs147850738 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.808G>A r.(?) p.(Glu270Lys) g.91295025G>A - BLM_000070 rs762053925 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.822T>C r.(=) p.(=) g.91295039T>C - BLM_000104 rs1596221010 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.857T>C r.(?) p.(Val286Ala) g.91295074T>C - BLM_000036 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.888T>C r.(=) p.(=) g.91295105T>C - BLM_000054 rs139277089 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.899T>C r.(?) p.(Phe300Ser) g.91295116T>C - BLM_000065 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.963G>A r.(=) p.(=) g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1086C>T r.(=) p.(=) g.91298167C>T - BLM_000038 rs375632163 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1088-40_1088-39insC r.(=) p.(=) g.91303337_91303338insC - BLM_000060 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1212G>T r.(=) p.(=) g.91303501G>T - BLM_000067 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1220+25A>T r.(=) p.(=) g.91303534A>T - BLM_000053 rs28385010 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1221-23_1221-21del r.(=) p.(=) g.91303801_91303803del - BLM_000041 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1221-16T>C r.(=) p.(=) g.91303808T>C - BLM_000058 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1229T>C r.(?) p.(Leu410Pro) g.91303832T>C - BLM_000097 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1315A>G r.(?) p.(Met439Val) g.91303918A>G - BLM_000071 rs201231857 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1338A>G r.(=) p.(=) g.91303941A>G - BLM_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1433G>C r.(?) p.(Gly478Ala) g.91304036G>C - BLM_000090 rs759810567 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1552T>C r.(?) p.(Ser518Pro) g.91304155T>C - BLM_000081 - - Germline - - - - Despoina Kalfakakou
+/+ 5 - c.1642C>T r.(?) p.(Gln548*) g.91304245C>T - BLM_000059 rs200389141 - Germline - - - - Despoina Kalfakakou
-/- 34 - c.1722A>G r.(=) p.(=) g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1825C>A r.(?) p.(Pro609Thr) g.91304428C>A - BLM_000048 rs770255643 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1882+49A>G r.(=) p.(=) g.91304534A>G - BLM_000042 - - Germline - - - - Despoina Kalfakakou
-?/-? 12 - c.1928G>A r.(?) p.(Arg643His) g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1934A>G r.(?) p.(Gln645Arg) g.91306247A>G - BLM_000099 rs377563699 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.2025G>A r.(=) p.(=) g.91306338G>A - BLM_000021 rs781424357 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2025G>C r.(=) p.(=) g.91306338G>C - BLM_000093 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.2075-14T>C r.(=) p.(=) g.91308512T>C - BLM_000014 rs28385026 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2106T>A r.(=) p.(=) g.91308557T>A - BLM_000073 rs529421306 - Germline - - - - Despoina Kalfakakou
-?/-? 18 - c.2119C>T r.(?) p.(Pro707Ser) g.91308570C>T - BLM_000015 rs146077918 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2205_2206insT r.(?) p.(Tyr736Leufs*5) g.91310151_91310152insT - BLM_000016 rs886051551 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2208T>G r.(?) p.(Tyr736*) g.91310154T>G - BLM_000017 rs865899765 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2209C>A r.(?) p.(Leu737Met) g.91310155C>A - BLM_000008 rs901867383 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.2211G>T r.(=) p.(=) g.91310157G>T - BLM_000009 rs933356579 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2212A>C r.(?) p.(Thr738Pro) g.91310158A>C - BLM_000010 rs1050741211 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2213C>T r.(?) p.(Thr738Ile) g.91310159C>T - BLM_000105 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.2237C>T r.(?) p.(Ala746Val) g.91310183C>T - BLM_000023 rs769498533 - Germline - - - - Despoina Kalfakakou
-/- 13 - c.2268A>G r.(=) p.(=) g.91310214A>G - BLM_000043 rs146013879 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2333C>G r.(?) p.(Ser778Cys) g.91312388C>G - BLM_000011 rs139610577 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2406+22C>T r.(=) p.(=) g.91312483C>T - BLM_000089 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.2407-32G>A r.(=) p.(=) g.91312636G>A - BLM_000085 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2475G>A r.(=) p.(=) g.91312736G>A - BLM_000066 rs147587050 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2505C>G r.(=) p.(=) g.91312766C>G - BLM_000107 rs1023396216 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2555+20G>A r.(=) p.(=) g.91312836G>A - BLM_000077 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2662+36A>T r.(=) p.(=) g.91326194A>T - BLM_000049 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2746C>G r.(?) p.(Leu916Val) g.91328234C>G - BLM_000106 rs1424143421 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2868G>A r.(=) p.(=) g.91333923G>A - BLM_000087 rs199861261 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2898C>G r.(=) p.(=) g.91333953C>G - BLM_000061 rs201220226 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2983T>A r.(?) p.(Tyr995Asn) g.91334038T>A - BLM_000094 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3019+11C>A r.(=) p.(=) g.91334085C>A - BLM_000062 - - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.3019+17T>C r.(=) p.(=) g.91334091T>C - BLM_000003 rs532036885 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3019+21G>A r.(=) p.(=) g.91334095G>A - BLM_000012 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3019+50T>G r.(=) p.(=) g.91334124T>G - BLM_000063 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3020-23A>G r.(=) p.(=) g.91337374A>G - BLM_000095 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3207A>G r.(=) p.(=) g.91337584A>G - BLM_000102 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3211-51T>G r.(=) p.(=) g.91341369T>G - BLM_000050 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3211-14C>G r.(=) p.(=) g.91341406C>G - BLM_000068 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3212A>G r.(?) p.(Asp1071Gly) g.91341421A>G - BLM_000064 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3248G>A r.(?) p.(Ser1083Asn) g.91341457G>A - BLM_000024 rs775134111 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3313C>G r.(?) p.(Pro1105Ala) g.91341522C>G - BLM_000056 rs369142038 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3355T>C r.(=) p.(=) g.91341564T>C - BLM_000111 rs201847046 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3358+21G>T r.(=) p.(=) g.91341588G>T - BLM_000051 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3359-40C>G r.(=) p.(=) g.91346711C>G - BLM_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3359-39G>A r.(=) p.(=) g.91346712G>A - BLM_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3359-27A>C r.(=) p.(=) g.91346724A>C - BLM_000026 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3359-26T>C r.(=) p.(=) g.91346725T>C - BLM_000100 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3359-25C>G r.(=) p.(=) g.91346726C>G - BLM_000069 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3403T>C r.(?) p.(Ser1135Pro) g.91346795T>C - BLM_000052 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3416G>C r.(?) p.(Arg1139Pro) g.91346808G>C - BLM_000072 rs771776126 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3558+9_3558+10del r.(=) p.(=) g.91346959_91346960del - BLM_000045 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3558+29A>G r.(=) p.(=) g.91346979A>G - BLM_000027 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3559-46A>G r.(=) p.(=) g.91347351A>G - BLM_000079 - - Germline - - - - Despoina Kalfakakou
-/- 2 - c.3613G>A r.(?) p.(Val1205Ile) g.91347451G>A - BLM_000028 rs28385141 - Germline - - - - Despoina Kalfakakou
-?/-? 13 - c.3625T>A r.(?) p.(Ser1209Thr) g.91347463T>A - BLM_000004 rs1801256 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3744G>A r.(=) p.(=) g.91347582G>A - BLM_000005 rs1596268347 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3751+27G>A r.(=) p.(=) g.91347616G>A - BLM_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3751+45C>A r.(=) p.(=) g.91347634C>A - BLM_000080 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.3752-13T>G r.(=) p.(=) g.91352354T>G - BLM_000084 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3769C>T r.(?) p.(Pro1257Ser) g.91352384C>T - BLM_000046 rs144964365 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.3798T>G r.(=) p.(=) g.91352413T>G - BLM_000029 rs138831180 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.3849G>A r.(=) p.(=) g.91352464G>A - BLM_000030 rs140524886 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3867A>G r.(=) p.(=) g.91352482A>G - BLM_000088 rs759000443 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3875-50C>T r.(=) p.(=) g.91354385C>T - BLM_000082 rs1596230139 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3875-49G>A r.(=) p.(=) g.91354386G>A - BLM_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3875-38C>T r.(=) p.(=) g.91354397C>T - BLM_000086 rs28385157 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3879A>G r.(=) p.(=) g.91354439A>G - BLM_000098 rs28377085 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3923G>A r.(?) p.(Gly1308Glu) g.91354483G>A - BLM_000108 rs750865930 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3933C>T r.(=) p.(=) g.91354493C>T - BLM_000006 rs756451802 - Germline - - - - Despoina Kalfakakou
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