Unique variants in gene BAP1

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

76 entries on 1 page. Showing entries 1 - 76.
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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     
./. 1 - c.-16G>A r.(=) p.(=) g.52443910C>T - BAP1_000032 - - - - Despoina Kalfakakou
./. 1 - c.37+19G>A r.(=) p.(=) g.52443839C>T - BAP1_000010 - - - - Despoina Kalfakakou
./. 1 - c.37+26G>T r.(=) p.(=) g.52443832C>A - BAP1_000069 - - - - Despoina Kalfakakou
./. 4 - c.37+31G>C r.(=) p.(=) g.52443827C>G - BAP1_000031 - - - - Despoina Kalfakakou
./. 2 - c.38-20C>T r.(=) p.(=) g.52443779G>A - BAP1_000016 - - - - Despoina Kalfakakou
./. 1 - c.67+33T>C r.(=) p.(=) g.52443697A>G - BAP1_000057 - - - - Despoina Kalfakakou
./. 1 - c.67+46C>T r.(=) p.(=) g.52443684G>A - BAP1_000009 - - - - Despoina Kalfakakou
./. 2 - c.67+49T>G r.(=) p.(=) g.52443681A>C - BAP1_000008 - - - - Despoina Kalfakakou
./. 5 - c.68-48A>T r.(=) p.(=) g.52443672T>A - BAP1_000007 - - - - Despoina Kalfakakou
./. 1 - c.68-43T>G r.(=) p.(=) g.52443667A>C - BAP1_000039 - - - - Despoina Kalfakakou
./. 1 - c.72C>A r.(=) p.(=) g.52443620G>T - BAP1_000073 - - - - Despoina Kalfakakou
./. 2 - c.121G>A r.(?) p.(Gly41Ser) g.52443571C>T - BAP1_000052 - - - - Despoina Kalfakakou
./. 1 - c.122+12T>C r.(=) p.(=) g.52443558A>G - BAP1_000056 - - - - Despoina Kalfakakou
./. 1 - c.122+21_122+22insG r.(=) p.(=) g.52443548_52443549insC - BAP1_000043 - - - - Despoina Kalfakakou
./. 16 - c.123-48T>G r.(=) p.(=) g.52442670A>C - BAP1_000006 - - - - Despoina Kalfakakou
./. 1 - c.123-29G>T r.(=) p.(=) g.52442651C>A - BAP1_000005 - - - - Despoina Kalfakakou
./. 1 - c.125C>T r.(?) p.(Pro42Leu) g.52442620G>A - BAP1_000061 - - - - Despoina Kalfakakou
./. 1 - c.181A>T r.(?) p.(Lys61*) g.52442564T>A - BAP1_000051 - - - - Despoina Kalfakakou
./. 1 - c.190A>G r.(?) p.(Thr64Ala) g.52442555T>C - BAP1_000030 - - - - Despoina Kalfakakou
./. 1 - c.285C>T r.(=) p.(=) g.52442064G>A - BAP1_000018 - - - - Despoina Kalfakakou
./. 1 - c.315C>T r.(=) p.(=) g.52442034G>A - BAP1_000026 - - - - Despoina Kalfakakou
./. 2 - c.333C>T r.(=) p.(=) g.52442016G>A - BAP1_000065 - - - - Despoina Kalfakakou
./. 6 - c.376-50C>T r.(=) p.(=) g.52441526G>A - BAP1_000017 - - - - Despoina Kalfakakou
./. 1 - c.437+23_437+24insTGGGAGCTG r.(=) p.(=) g.52441391_52441392insCAGCTCCCA - BAP1_000045 - - - - Despoina Kalfakakou
./. 14 - c.501G>A r.(=) p.(=) g.52441269C>T - BAP1_000001 - - - - Despoina Kalfakakou
./. 1 - c.580+31T>G r.(=) p.(=) g.52441159A>C - BAP1_000033 - - - - Despoina Kalfakakou
./. 1 - c.659+17T>A r.(=) p.(=) g.52440828A>T - BAP1_000050 - - - - Despoina Kalfakakou
./. 1 - c.659+22T>A r.(=) p.(=) g.52440823A>T - BAP1_000072 - - - - Despoina Kalfakakou
./. 1 - c.660-40G>A r.(=) p.(=) g.52440432C>T - BAP1_000060 - - - - Despoina Kalfakakou
./. 17 - c.660-26T>A r.(=) p.(=) g.52440418A>T - BAP1_000004 - - - - Despoina Kalfakakou
./. 1 - c.705C>T r.(=) p.(=) g.52440347G>A - BAP1_000029 - - - - Despoina Kalfakakou
./. 2 - c.720G>A r.(=) p.(=) g.52440332C>T - BAP1_000003 - - - - Despoina Kalfakakou
./. 2 - c.783G>A r.(=) p.(=) g.52440269C>T - BAP1_000038 rs35003777 - - - Despoina Kalfakakou
./. 1 - c.783+2T>C r.spl? p.? g.52440267A>G - BAP1_000058 - - - - Despoina Kalfakakou
./. 1 - c.783+12T>G r.(=) p.(=) g.52440257A>C - BAP1_000027 - - - - Despoina Kalfakakou
./. 1 - c.783+15T>G r.(=) p.(=) g.52440254A>C - BAP1_000048 - - - - Despoina Kalfakakou
./. 2 - c.944A>C r.(?) p.(Glu315Ala) g.52439298T>G - BAP1_000041 - - - - Despoina Kalfakakou
./. 1 - c.974C>T r.(?) p.(Ser325Phe) g.52439268G>A - BAP1_000044 - - - - Despoina Kalfakakou
./. 20 - c.1002A>G r.(=) p.(=) g.52439240T>C - BAP1_000002 rs28997577 - - - Despoina Kalfakakou
./. 5 - c.1026C>T r.(=) p.(=) g.52439216G>A - BAP1_000037 rs71651686 - - - Despoina Kalfakakou
./. 1 - c.1031A>G r.(?) p.(Asn344Ser) g.52439211T>C - BAP1_000040 - - - - Despoina Kalfakakou
./. 3 - c.1116+36G>A r.(=) p.(=) g.52439090C>T - BAP1_000036 - - - - Despoina Kalfakakou
./. 1 - c.1134G>A r.(=) p.(=) g.52438585C>T - BAP1_000074 - - - - Despoina Kalfakakou
./. 1 - c.1148G>A r.(?) p.(Arg383His) g.52438571C>T - BAP1_000019 - - - - Despoina Kalfakakou
./. 1 - c.1201T>G r.(?) p.(Tyr401Asp) g.52438518A>C - BAP1_000068 - - - - Despoina Kalfakakou
./. 1 - c.1203T>G r.(?) p.(Tyr401*) g.52438516A>C - BAP1_000067 - - - - Despoina Kalfakakou
./. 1 - c.1217A>C r.(?) p.(Glu406Ala) g.52438502T>G - BAP1_000071 - - - - Despoina Kalfakakou
./. 1 - c.1224C>T r.(=) p.(=) g.52438495G>A - BAP1_000024 - - - - Despoina Kalfakakou
./. 1 - c.1225G>A r.(?) p.(Val409Met) g.52438494C>T - BAP1_000075 - - - - Despoina Kalfakakou
./. 1 - c.1238A>C r.(?) p.(Asn413Thr) g.52438481T>G - BAP1_000064 - - - - Despoina Kalfakakou
./. 1 - c.1250+12T>C r.(=) p.(=) g.52438457A>G - BAP1_000063 - - - - Despoina Kalfakakou
./. 1 - c.1250+41C>T r.(=) p.(=) g.52438428G>A - BAP1_000023 - - - - Despoina Kalfakakou
./. 6 - c.1250+42G>A r.(=) p.(=) g.52438427C>T - BAP1_000015 - - - - Despoina Kalfakakou
./. 1 - c.1251-34G>A r.(=) p.(=) g.52437944C>T - BAP1_000035 - - - - Despoina Kalfakakou
./. 1 - c.1497C>T r.(=) p.(=) g.52437664G>A - BAP1_000059 - - - - Despoina Kalfakakou
./. 1 - c.1710G>A r.(=) p.(=) g.52437451C>T - BAP1_000062 - - - - Despoina Kalfakakou
./. 17 - c.1729+8T>C r.(=) p.(=) g.52437424A>G - BAP1_000014 - - - - Despoina Kalfakakou
./. 5 - c.1730-42T>G r.(=) p.(=) g.52437356A>C - BAP1_000022 - - - - Despoina Kalfakakou
./. 1 - c.1730-35C>T r.(=) p.(=) g.52437349G>A - BAP1_000076 - - - - Despoina Kalfakakou
./. 1 - c.1801A>G r.(?) p.(Lys601Glu) g.52437243T>C - BAP1_000055 - - - - Despoina Kalfakakou
./. 1 - c.1805A>T r.(?) p.(Glu602Val) g.52437239T>A - BAP1_000054 - - - - Despoina Kalfakakou
./. 1 - c.1820C>T r.(?) p.(Thr607Met) g.52437224G>A - BAP1_000046 - - - - Despoina Kalfakakou
./. 2 - c.1838C>T r.(?) p.(Thr613Met) g.52437206G>A - BAP1_000042 rs35448940 - - - Despoina Kalfakakou
./. 1 - c.1855G>A r.(?) p.(Gly619Ser) g.52437189C>T - BAP1_000034 - - - - Despoina Kalfakakou
./. 17 - c.1891-30G>C r.(=) p.(=) g.52436917C>G - BAP1_000013 - - - - Despoina Kalfakakou
./. 1 - c.1946G>A r.(?) p.(Cys649Tyr) g.52436832C>T - BAP1_000066 - - - - Despoina Kalfakakou
./. 1 - c.1947C>T r.(=) p.(=) g.52436831G>A - BAP1_000049 - - - - Despoina Kalfakakou
./. 3 - c.1962A>C r.(=) p.(=) g.52436816T>G - BAP1_000021 - - - - Despoina Kalfakakou
./. 1 - c.1983+38C>T r.(=) p.(=) g.52436757G>A - BAP1_000070 - - - - Despoina Kalfakakou
./. 3 - c.1984-21_1984-20del r.(=) p.(=) g.52436710_52436711del - BAP1_000028 - - - - Despoina Kalfakakou
./. 1 - c.2056+31A>G r.(=) p.(=) g.52436587T>C - BAP1_000053 - - - - Despoina Kalfakakou
./. 13 - c.2057-22A>C r.(=) p.(=) g.52436459T>G - BAP1_000012 - - - - Despoina Kalfakakou
./. 4 - c.2057-4G>T r.spl? p.? g.52436441C>A - BAP1_000011 - - - - Despoina Kalfakakou
./. 1 - c.2154G>A r.(=) p.(=) g.52436340C>T - BAP1_000047 - - - - Despoina Kalfakakou
./. 1 - c.2172C>T r.(=) p.(=) g.52436322G>A - BAP1_000020 - - - - Despoina Kalfakakou
./. 2 - c.*37G>A r.(=) p.(=) g.52436267C>T - BAP1_000025 - - - - Despoina Kalfakakou
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