All transcript variants in gene BAP1

Information The variants shown are described using the NM_004656.3 transcript reference sequence.

245 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.-16G>A r.(=) p.(=) g.52443910C>T - BAP1_000032 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.37+19G>A r.(=) p.(=) g.52443839C>T - BAP1_000010 rs1553646394 - Germline - - - - Despoina Kalfakakou
?/? - c.37+26G>T r.(=) p.(=) g.52443832C>A - BAP1_000069 - - Germline - - - - Despoina Kalfakakou
?/? - c.37+31G>C r.(=) p.(=) g.52443827C>G - BAP1_000031 - - Germline - - - - Despoina Kalfakakou
?/? - c.37+31G>C r.(=) p.(=) g.52443827C>G - BAP1_000031 - - Germline - - - - Despoina Kalfakakou
?/? - c.37+31G>C r.(=) p.(=) g.52443827C>G - BAP1_000031 - - Germline - - - - Despoina Kalfakakou
?/? - c.37+31G>C r.(=) p.(=) g.52443827C>G - BAP1_000031 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.38-20C>T r.(=) p.(=) g.52443779G>A - BAP1_000016 rs761912129 - Germline - - - - Despoina Kalfakakou
-?/-? - c.38-20C>T r.(=) p.(=) g.52443779G>A - BAP1_000016 rs761912129 - Germline - - - - Despoina Kalfakakou
?/? - c.67+33T>C r.(=) p.(=) g.52443697A>G - BAP1_000057 - - Germline - - - - Despoina Kalfakakou
?/? - c.67+46C>T r.(=) p.(=) g.52443684G>A - BAP1_000009 - - Germline - - - - Despoina Kalfakakou
?/? - c.67+46C>T r.(=) p.(=) g.52443684G>A - BAP1_000009 - - Germline - - - - Despoina Kalfakakou
?/? - c.67+49T>G r.(=) p.(=) g.52443681A>C - BAP1_000008 - - Germline - - - - Despoina Kalfakakou
?/? - c.67+49T>G r.(=) p.(=) g.52443681A>C - BAP1_000008 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-43T>G r.(=) p.(=) g.52443667A>C - BAP1_000039 - - Germline - - - - Despoina Kalfakakou
?/? - c.68-43T>G r.(=) p.(=) g.52443667A>C - BAP1_000039 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.72C>A r.(=) p.(=) g.52443620G>T - BAP1_000073 rs1264275534 - Germline - - - - Despoina Kalfakakou
-?/-? - c.121G>A r.(?) p.(Gly41Ser) g.52443571C>T - BAP1_000052 rs372586694 - Germline - - - - Despoina Kalfakakou
-?/-? - c.121G>A r.(?) p.(Gly41Ser) g.52443571C>T - BAP1_000052 rs372586694 - Germline - - - - Despoina Kalfakakou
?/? - c.122+12T>C r.(=) p.(=) g.52443558A>G - BAP1_000056 - - Germline - - - - Despoina Kalfakakou
?/? - c.122+21_122+22insG r.(=) p.(=) g.52443548_52443549insC - BAP1_000043 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.123-29G>T r.(=) p.(=) g.52442651C>A - BAP1_000005 - - Germline - - - - Despoina Kalfakakou
?/? - c.125C>T r.(?) p.(Pro42Leu) g.52442620G>A - BAP1_000061 - - Germline - - - - Despoina Kalfakakou
+/+ - c.181A>T r.(?) p.(Lys61*) g.52442564T>A - BAP1_000051 rs1060503744 - Germline - - - - Despoina Kalfakakou
?/? - c.190A>G r.(?) p.(Thr64Ala) g.52442555T>C - BAP1_000030 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.285C>T r.(=) p.(=) g.52442064G>A - BAP1_000018 rs1288003773 - Germline - - - - Despoina Kalfakakou
-?/-? - c.315C>T r.(=) p.(=) g.52442034G>A - BAP1_000026 rs576176888 - Germline - - - - Despoina Kalfakakou
?/? - c.332C>T r.(?) p.(Thr111Ile) g.52442017G>A - BAP1_000078 rs527433244 - Germline - - - - Despoina Kalfakakou
-?/-? - c.333C>T r.(=) p.(=) g.52442016G>A - BAP1_000065 rs375700254 - Germline - - - - Despoina Kalfakakou
-?/-? - c.333C>T r.(=) p.(=) g.52442016G>A - BAP1_000065 rs375700254 - Germline - - - - Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) g.52442016G>A - BAP1_000065 - - - - - - - Stevi Xera
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - Germline - - - - Despoina Kalfakakou
?/? - c.437+23_437+24insTGGGAGCTG r.(=) p.(=) g.52441391_52441392insCAGCTCCCA - BAP1_000045 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
-?/-? - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou
?/? - c.580+31T>G r.(=) p.(=) g.52441159A>C - BAP1_000033 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.659+17T>A r.(=) p.(=) g.52440828A>T - BAP1_000050 rs753960146 - Germline - - - - Despoina Kalfakakou
?/? - c.659+22T>A r.(=) p.(=) g.52440823A>T - BAP1_000072 - - Germline - - - - Despoina Kalfakakou
?/? - c.660-41C>T r.(=) p.(=) g.52440433G>A - BAP1_000080 - - Germline - - - - Despoina Kalfakakou
?/? - c.660-40G>A r.(=) p.(=) g.52440432C>T - BAP1_000060 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 rs139414598 - Germline - - - - Despoina Kalfakakou
-?/-? - c.672C>T r.(=) p.(=) g.52440380G>A - BAP1_000077 rs756217463 - Germline - - - - Despoina Kalfakakou
-?/-? - c.705C>T r.(=) p.(=) g.52440347G>A - BAP1_000029 rs138180791 - Germline - - - - Despoina Kalfakakou
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