| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52403140_52403300del | CA645529886 | BAP1 | c.1730_1890del c.1676_1836del n.137_297del c.120-457_120-297del c.233_393del c.1730_1845+45del | COSMIC |
| 3 | g.52403194del | CA16611329 | BAP1 | c.1835del (p.Lys612ArgfsTer5) c.1781del (p.Lys594ArgfsTer5) n.242del c.120-352del c.338del (p.Lys113ArgfsTer5) c.1835del (p.Lys612ArgfsTer?) c.1835del (p.Lys612ArgfsTer10) | ClinVar dbSNP |
| 3 | g.52403193_52403197delinsTTCTC | CA1364835663 | BAP1 | c.1831_1835delinsGAGAA (p.Glu611=) c.1777_1781delinsGAGAA (p.Glu593=) n.238_242delinsGAGAA c.120-356_120-352delinsGAGAA c.334_338delinsGAGAA (p.Glu112=) | |
| 3 | g.52403194T>A | CA353098292 | BAP1 | c.1834A>T (p.Lys612Ter) c.1780A>T (p.Lys594Ter) n.241A>T c.120-353A>T c.337A>T (p.Lys113Ter) | |
| 3 | g.52403194T>C | CA353098311 | BAP1 | c.1834A>G (p.Lys612Glu) c.1780A>G (p.Lys594Glu) n.241A>G c.120-353A>G c.337A>G (p.Lys113Glu) | |
| 3 | g.52403194T>G | CA353098322 | BAP1 | c.1834A>C (p.Lys612Gln) c.1780A>C (p.Lys594Gln) n.241A>C c.120-353A>C c.337A>C (p.Lys113Gln) | |
| 3 | g.52403199_52403200dup | CA2580616480 | BAP1 | c.1833_1834dup (p.Lys612ArgfsTer6) c.1779_1780dup (p.Lys594ArgfsTer6) n.240_241dup c.120-354_120-353dup c.336_337dup (p.Lys113ArgfsTer6) c.1833_1834dup (p.Lys612ArgfsTer?) c.1833_1834dup (p.Lys612ArgfsTer11) | ClinVar |
| 3 | g.52403199_52403200del | CA2580616481 | BAP1 | c.1833_1834del (p.Lys612AspfsTer?) c.1779_1780del (p.Lys594AspfsTer?) n.240_241del c.120-354_120-353del c.336_337del (p.Lys113AspfsTer?) c.1833_1834del (p.Lys612AspfsTer15) | ClinVar dbSNP |
| 3 | g.52403197_52403200del | CA645529892 | BAP1 | c.1831_1834del (p.Glu611ArgfsTer5) c.1777_1780del (p.Glu593ArgfsTer5) n.238_241del c.120-356_120-353del c.334_337del (p.Glu112ArgfsTer5) c.1831_1834del (p.Glu611ArgfsTer?) c.1831_1834del (p.Glu611ArgfsTer10) | ClinVar dbSNP COSMIC |
| 3 | g.52403195C>A | CA353098334 | BAP1 | c.1833G>T (p.Glu611Asp) c.1779G>T (p.Glu593Asp) n.240G>T c.120-354G>T c.336G>T (p.Glu112Asp) | |
| 3 | g.52403195C= | CA1364835670 | BAP1 | c.1833G= (p.Glu611=) c.1779G= (p.Glu593=) n.240G= c.120-354G= c.336G= (p.Glu112=) | |
| 3 | g.52403195C>G | CA2436706 | BAP1 | c.1833G>C (p.Glu611Asp) c.1779G>C (p.Glu593Asp) n.240G>C c.120-354G>C c.336G>C (p.Glu112Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403195C>T | CA433885888 | BAP1 | c.1833G>A (p.Glu611=) c.1779G>A (p.Glu593=) n.240G>A c.120-354G>A c.336G>A (p.Glu112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403196T>A | CA353098346 | BAP1 | c.1832A>T (p.Glu611Val) c.1778A>T (p.Glu593Val) n.239A>T c.120-355A>T c.335A>T (p.Glu112Val) | |
| 3 | g.52403196T>C | CA353098349 | BAP1 | c.1832A>G (p.Glu611Gly) c.1778A>G (p.Glu593Gly) n.239A>G c.120-355A>G c.335A>G (p.Glu112Gly) | dbSNP |
| 3 | g.52403196T>G | CA353098351 | BAP1 | c.1832A>C (p.Glu611Ala) c.1778A>C (p.Glu593Ala) n.239A>C c.120-355A>C c.335A>C (p.Glu112Ala) | |
| 3 | g.52403197C>A | CA353098365 | BAP1 | c.1831G>T (p.Glu611Ter) c.1777G>T (p.Glu593Ter) n.238G>T c.120-356G>T c.334G>T (p.Glu112Ter) | |
| 3 | g.52403197C>G | CA353098374 | BAP1 | c.1831G>C (p.Glu611Gln) c.1777G>C (p.Glu593Gln) n.238G>C c.120-356G>C c.334G>C (p.Glu112Gln) | dbSNP |
| 3 | g.52403197C>T | CA353098372 | BAP1 | c.1831G>A (p.Glu611Lys) c.1777G>A (p.Glu593Lys) n.238G>A c.120-356G>A c.334G>A (p.Glu112Lys) | dbSNP |
| 3 | g.52403198T>A | CA353098381 | BAP1 | c.1830A>T (p.Arg610Ser) c.1776A>T (p.Arg592Ser) n.237A>T c.120-357A>T c.333A>T (p.Arg111Ser) | dbSNP |
| 3 | g.52403198T>C | CA433885896 | BAP1 | c.1830A>G (p.Arg610=) c.1776A>G (p.Arg592=) n.237A>G c.120-357A>G c.333A>G (p.Arg111=) | ClinVar dbSNP |
| 3 | g.52403198T>G | CA353098382 | BAP1 | c.1830A>C (p.Arg610Ser) c.1776A>C (p.Arg592Ser) n.237A>C c.120-357A>C c.333A>C (p.Arg111Ser) | |
| 3 | g.52403198T= | CA1364835679 | BAP1 | c.1830A= (p.Arg610=) c.1776A= (p.Arg592=) n.237A= c.120-357A= c.333A= (p.Arg111=) | |
| 3 | g.52403199C>A | CA353098385 | BAP1 | c.1829G>T (p.Arg610Ile) c.1775G>T (p.Arg592Ile) n.236G>T c.120-358G>T c.332G>T (p.Arg111Ile) | dbSNP |
| 3 | g.52403199C>G | CA353098389 | BAP1 | c.1829G>C (p.Arg610Thr) c.1775G>C (p.Arg592Thr) n.236G>C c.120-358G>C c.332G>C (p.Arg111Thr) | dbSNP |
| 3 | g.52403199C>T | CA353098391 | BAP1 | c.1829G>A (p.Arg610Lys) c.1775G>A (p.Arg592Lys) n.236G>A c.120-358G>A c.332G>A (p.Arg111Lys) | dbSNP |
| 3 | g.52403200T>A | CA353098393 | BAP1 | c.1828A>T (p.Arg610Ter) c.1774A>T (p.Arg592Ter) n.235A>T c.120-359A>T c.331A>T (p.Arg111Ter) | dbSNP COSMIC |
| 3 | g.52403200T>C | CA353098395 | BAP1 | c.1828A>G (p.Arg610Gly) c.1774A>G (p.Arg592Gly) n.235A>G c.120-359A>G c.331A>G (p.Arg111Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403200T>G | CA433885903 | BAP1 | c.1828A>C (p.Arg610=) c.1774A>C (p.Arg592=) n.235A>C c.120-359A>C c.331A>C (p.Arg111=) | |
| 3 | g.52403200T= | CA1364835683 | BAP1 | c.1828A= (p.Arg610=) c.1774A= (p.Arg592=) n.235A= c.120-359A= c.331A= (p.Arg111=) | |
| 3 | g.52403201G>A | CA2436707 | BAP1 | c.1827C>T (p.Ser609=) c.1773C>T (p.Ser591=) n.234C>T c.120-360C>T c.330C>T (p.Ser110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403201G>C | CA353098402 | BAP1 | c.1827C>G (p.Ser609Arg) c.1773C>G (p.Ser591Arg) n.234C>G c.120-360C>G c.330C>G (p.Ser110Arg) | dbSNP |
| 3 | g.52403201G= | CA1364835691 | BAP1 | c.1827C= (p.Ser609=) c.1773C= (p.Ser591=) n.234C= c.120-360C= c.330C= (p.Ser110=) | |
| 3 | g.52403201G>T | CA353098406 | BAP1 | c.1827C>A (p.Ser609Arg) c.1773C>A (p.Ser591Arg) n.234C>A c.120-360C>A c.330C>A (p.Ser110Arg) | |
| 3 | g.52403202C>A | CA353098417 | BAP1 | c.1826G>T (p.Ser609Ile) c.1772G>T (p.Ser591Ile) n.233G>T c.120-361G>T c.329G>T (p.Ser110Ile) | |
| 3 | g.52403202C>G | CA353098419 | BAP1 | c.1826G>C (p.Ser609Thr) c.1772G>C (p.Ser591Thr) n.233G>C c.120-361G>C c.329G>C (p.Ser110Thr) | dbSNP |
| 3 | g.52403202C>T | CA353098413 | BAP1 | c.1826G>A (p.Ser609Asn) c.1772G>A (p.Ser591Asn) n.233G>A c.120-361G>A c.329G>A (p.Ser110Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403203T>A | CA353098451 | BAP1 | c.1825A>T (p.Ser609Cys) c.1771A>T (p.Ser591Cys) n.232A>T c.120-362A>T c.328A>T (p.Ser110Cys) | dbSNP |
| 3 | g.52403203T>C | CA353098423 | BAP1 | c.1825A>G (p.Ser609Gly) c.1771A>G (p.Ser591Gly) n.232A>G c.120-362A>G c.328A>G (p.Ser110Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.52403203T>G | CA353098449 | BAP1 | c.1825A>C (p.Ser609Arg) c.1771A>C (p.Ser591Arg) n.232A>C c.120-362A>C c.328A>C (p.Ser110Arg) | dbSNP |
| 3 | g.52403203T= | CA1364835698 | BAP1 | c.1825A= (p.Ser609=) c.1771A= (p.Ser591=) n.232A= c.120-362A= c.328A= (p.Ser110=) | |
| 3 | g.52403204G>A | CA433885907 | BAP1 | c.1824C>T (p.Asp608=) c.1770C>T (p.Asp590=) n.231C>T c.120-363C>T c.327C>T (p.Asp109=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403204G>C | CA353098454 | BAP1 | c.1824C>G (p.Asp608Glu) c.1770C>G (p.Asp590Glu) n.231C>G c.120-363C>G c.327C>G (p.Asp109Glu) | dbSNP |
| 3 | g.52403204G= | CA1364835704 | BAP1 | c.1824C= (p.Asp608=) c.1770C= (p.Asp590=) n.231C= c.120-363C= c.327C= (p.Asp109=) | |
| 3 | g.52403204G>T | CA353098458 | BAP1 | c.1824C>A (p.Asp608Glu) c.1770C>A (p.Asp590Glu) n.231C>A c.120-363C>A c.327C>A (p.Asp109Glu) | |
| 3 | g.52403205T>A | CA353098464 | BAP1 | c.1823A>T (p.Asp608Val) c.1769A>T (p.Asp590Val) n.230A>T c.120-364A>T c.326A>T (p.Asp109Val) | |
| 3 | g.52403205T>C | CA353098478 | BAP1 | c.1823A>G (p.Asp608Gly) c.1769A>G (p.Asp590Gly) n.230A>G c.120-364A>G c.326A>G (p.Asp109Gly) | dbSNP |
| 3 | g.52403205T>G | CA353098481 | BAP1 | c.1823A>C (p.Asp608Ala) c.1769A>C (p.Asp590Ala) n.230A>C c.120-364A>C c.326A>C (p.Asp109Ala) | |
| 3 | g.52403205T= | CA1364835710 | BAP1 | c.1823A= (p.Asp608=) c.1769A= (p.Asp590=) n.230A= c.120-364A= c.326A= (p.Asp109=) | |
| 3 | g.52403206C>A | CA353098490 | BAP1 | c.1822G>T (p.Asp608Tyr) c.1768G>T (p.Asp590Tyr) n.229G>T c.120-365G>T c.325G>T (p.Asp109Tyr) | dbSNP |