UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 |
| 3 | g.52403206C>G | CA353098512 | BAP1 | c.1822G>C (p.Asp608His) c.1768G>C (p.Asp590His) n.229G>C c.120-365G>C c.325G>C (p.Asp109His) | dbSNP |
| 3 | g.52403206C>T | CA353098508 | BAP1 | c.1822G>A (p.Asp608Asn) c.1768G>A (p.Asp590Asn) n.229G>A c.120-365G>A c.325G>A (p.Asp109Asn) | dbSNP |
| 3 | g.52403207C>A | CA433885911 | BAP1 | c.1821G>T (p.Thr607=) c.1767G>T (p.Thr589=) n.228G>T c.120-366G>T c.324G>T (p.Thr108=) | dbSNP |
| 3 | g.52403207C= | CA1364835720 | BAP1 | c.1821G= (p.Thr607=) c.1767G= (p.Thr589=) n.228G= c.120-366G= c.324G= (p.Thr108=) | |
| 3 | g.52403207C>G | CA433885913 | BAP1 | c.1821G>C (p.Thr607=) c.1767G>C (p.Thr589=) n.228G>C c.120-366G>C c.324G>C (p.Thr108=) | dbSNP |
| 3 | g.52403207C>T | CA2436708 | BAP1 | c.1821G>A (p.Thr607=) c.1767G>A (p.Thr589=) n.228G>A c.120-366G>A c.324G>A (p.Thr108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403208G>A | CA2436709 | BAP1 | c.1820C>T (p.Thr607Met) c.1766C>T (p.Thr589Met) n.227C>T c.120-367C>T c.323C>T (p.Thr108Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403208G>C | CA353098517 | BAP1 | c.1820C>G (p.Thr607Arg) c.1766C>G (p.Thr589Arg) n.227C>G c.120-367C>G c.323C>G (p.Thr108Arg) | dbSNP |
| 3 | g.52403208G= | CA1364835726 | BAP1 | c.1820C= (p.Thr607=) c.1766C= (p.Thr589=) n.227C= c.120-367C= c.323C= (p.Thr108=) | |
| 3 | g.52403208G>T | CA353098531 | BAP1 | c.1820C>A (p.Thr607Lys) c.1766C>A (p.Thr589Lys) n.227C>A c.120-367C>A c.323C>A (p.Thr108Lys) | gnomAD v4 |
| 3 | g.52403209del | CA2586972734 | BAP1 | c.1819del (p.Thr607ArgfsTer10) c.1765del (p.Thr589ArgfsTer10) n.226del c.120-368del c.322del (p.Thr108ArgfsTer10) c.1819del (p.Thr607ArgfsTer?) c.1819del (p.Thr607ArgfsTer15) | |
| 3 | g.52403209T>A | CA353098536 | BAP1 | c.1819A>T (p.Thr607Ser) c.1765A>T (p.Thr589Ser) n.226A>T c.120-368A>T c.322A>T (p.Thr108Ser) | dbSNP |
| 3 | g.52403209T>C | CA353098557 | BAP1 | c.1819A>G (p.Thr607Ala) c.1765A>G (p.Thr589Ala) n.226A>G c.120-368A>G c.322A>G (p.Thr108Ala) | dbSNP gnomAD v4 |
| 3 | g.52403209T>G | CA353098556 | BAP1 | c.1819A>C (p.Thr607Pro) c.1765A>C (p.Thr589Pro) n.226A>C c.120-368A>C c.322A>C (p.Thr108Pro) | dbSNP gnomAD v4 |
| 3 | g.52403210G>A | CA433885922 | BAP1 | c.1818C>T (p.Ala606=) c.1764C>T (p.Ala588=) n.225C>T c.120-369C>T c.321C>T (p.Ala107=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403210G>C | CA433885915 | BAP1 | c.1818C>G (p.Ala606=) c.1764C>G (p.Ala588=) n.225C>G c.120-369C>G c.321C>G (p.Ala107=) | |
| 3 | g.52403210G= | CA1364835734 | BAP1 | c.1818C= (p.Ala606=) c.1764C= (p.Ala588=) n.225C= c.120-369C= c.321C= (p.Ala107=) | |
| 3 | g.52403210G>T | CA433885917 | BAP1 | c.1818C>A (p.Ala606=) c.1764C>A (p.Ala588=) n.225C>A c.120-369C>A c.321C>A (p.Ala107=) | dbSNP |
| 3 | g.52403211G>A | CA353098558 | BAP1 | c.1817C>T (p.Ala606Val) c.1763C>T (p.Ala588Val) n.224C>T c.120-370C>T c.320C>T (p.Ala107Val) | dbSNP |
| 3 | g.52403211G>C | CA353098559 | BAP1 | c.1817C>G (p.Ala606Gly) c.1763C>G (p.Ala588Gly) n.224C>G c.120-370C>G c.320C>G (p.Ala107Gly) | dbSNP |
| 3 | g.52403211G= | CA1364835738 | BAP1 | c.1817C= (p.Ala606=) c.1763C= (p.Ala588=) n.224C= c.120-370C= c.320C= (p.Ala107=) | |
| 3 | g.52403211G>T | CA353098560 | BAP1 | c.1817C>A (p.Ala606Asp) c.1763C>A (p.Ala588Asp) n.224C>A c.120-370C>A c.320C>A (p.Ala107Asp) | dbSNP COSMIC |
| 3 | g.52403212C>A | CA353098561 | BAP1 | c.1816G>T (p.Ala606Ser) c.1762G>T (p.Ala588Ser) n.223G>T c.120-371G>T c.319G>T (p.Ala107Ser) | dbSNP |
| 3 | g.52403212C>G | CA353098563 | BAP1 | c.1816G>C (p.Ala606Pro) c.1762G>C (p.Ala588Pro) n.223G>C c.120-371G>C c.319G>C (p.Ala107Pro) | ClinVar dbSNP |
| 3 | g.52403212C>T | CA353098565 | BAP1 | c.1816G>A (p.Ala606Thr) c.1762G>A (p.Ala588Thr) n.223G>A c.120-371G>A c.319G>A (p.Ala107Thr) | ClinVar dbSNP |
| 3 | g.52403213T>A | CA353098567 | BAP1 | c.1815A>T (p.Glu605Asp) c.1761A>T (p.Glu587Asp) n.222A>T c.120-372A>T c.318A>T (p.Glu106Asp) | |
| 3 | g.52403213T>C | CA433885923 | BAP1 | c.1815A>G (p.Glu605=) c.1761A>G (p.Glu587=) n.222A>G c.120-372A>G c.318A>G (p.Glu106=) | dbSNP |
| 3 | g.52403213T>G | CA353098582 | BAP1 | c.1815A>C (p.Glu605Asp) c.1761A>C (p.Glu587Asp) n.222A>C c.120-372A>C c.318A>C (p.Glu106Asp) | |
| 3 | g.52403214T>A | CA353098588 | BAP1 | c.1814A>T (p.Glu605Val) c.1760A>T (p.Glu587Val) n.221A>T c.120-373A>T c.317A>T (p.Glu106Val) | |
| 3 | g.52403214T>C | CA353098590 | BAP1 | c.1814A>G (p.Glu605Gly) c.1760A>G (p.Glu587Gly) n.221A>G c.120-373A>G c.317A>G (p.Glu106Gly) | ClinVar dbSNP |
| 3 | g.52403214T>G | CA353098595 | BAP1 | c.1814A>C (p.Glu605Ala) c.1760A>C (p.Glu587Ala) n.221A>C c.120-373A>C c.317A>C (p.Glu106Ala) | |
| 3 | g.52403214T= | CA1364835742 | BAP1 | c.1814A= (p.Glu605=) c.1760A= (p.Glu587=) n.221A= c.120-373A= c.317A= (p.Glu106=) | |
| 3 | g.52403215C>A | CA353098612 | BAP1 | c.1813G>T (p.Glu605Ter) c.1759G>T (p.Glu587Ter) n.220G>T c.120-374G>T c.316G>T (p.Glu106Ter) | |
| 3 | g.52403215C>G | CA353098609 | BAP1 | c.1813G>C (p.Glu605Gln) c.1759G>C (p.Glu587Gln) n.220G>C c.120-374G>C c.316G>C (p.Glu106Gln) | dbSNP |
| 3 | g.52403215C>T | CA353098599 | BAP1 | c.1813G>A (p.Glu605Lys) c.1759G>A (p.Glu587Lys) n.220G>A c.120-374G>A c.316G>A (p.Glu106Lys) | dbSNP |
| 3 | g.52403216del | CA2695197912 | BAP1 | c.1813del (p.Glu605LysfsTer12) c.1759del (p.Glu587LysfsTer12) n.220del c.120-374del c.316del (p.Glu106LysfsTer12) c.1813del (p.Glu605LysfsTer?) c.1813del (p.Glu605LysfsTer17) | ClinVar |
| 3 | g.52403216C>A | CA433885930 | BAP1 | c.1812G>T (p.Val604=) c.1758G>T (p.Val586=) n.219G>T c.120-375G>T c.315G>T (p.Val105=) | ClinVar |
| 3 | g.52403216C>G | CA433885931 | BAP1 | c.1812G>C (p.Val604=) c.1758G>C (p.Val586=) n.219G>C c.120-375G>C c.315G>C (p.Val105=) | dbSNP |
| 3 | g.52403216C>T | CA433885932 | BAP1 | c.1812G>A (p.Val604=) c.1758G>A (p.Val586=) n.219G>A c.120-375G>A c.315G>A (p.Val105=) | dbSNP gnomAD v4 |
| 3 | g.52403217A= | CA1364835745 | BAP1 | c.1811T= (p.Val604=) c.1757T= (p.Val586=) n.218T= c.120-376T= c.314T= (p.Val105=) | |
| 3 | g.52403217A>C | CA353098616 | BAP1 | c.1811T>G (p.Val604Gly) c.1757T>G (p.Val586Gly) n.218T>G c.120-376T>G c.314T>G (p.Val105Gly) | dbSNP |
| 3 | g.52403217A>G | CA353098620 | BAP1 | c.1811T>C (p.Val604Ala) c.1757T>C (p.Val586Ala) n.218T>C c.120-376T>C c.314T>C (p.Val105Ala) | ClinVar |
| 3 | g.52403217A>T | CA353098622 | BAP1 | c.1811T>A (p.Val604Glu) c.1757T>A (p.Val586Glu) n.218T>A c.120-376T>A c.314T>A (p.Val105Glu) | |
| 3 | g.52403218C>A | CA353098625 | BAP1 | c.1810G>T (p.Val604Leu) c.1756G>T (p.Val586Leu) n.217G>T c.120-377G>T c.313G>T (p.Val105Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403218C= | CA1364835753 | BAP1 | c.1810G= (p.Val604=) c.1756G= (p.Val586=) n.217G= c.120-377G= c.313G= (p.Val105=) | |
| 3 | g.52403218C>G | CA353098631 | BAP1 | c.1810G>C (p.Val604Leu) c.1756G>C (p.Val586Leu) n.217G>C c.120-377G>C c.313G>C (p.Val105Leu) | dbSNP |
| 3 | g.52403218C>T | CA2436710 | BAP1 | c.1810G>A (p.Val604Met) c.1756G>A (p.Val586Met) n.217G>A c.120-377G>A c.313G>A (p.Val105Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403219G>A | CA433885933 | BAP1 | c.1809C>T (p.Val603=) c.1755C>T (p.Val585=) n.216C>T c.120-378C>T c.312C>T (p.Val104=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403219G>C | CA433885934 | BAP1 | c.1809C>G (p.Val603=) c.1755C>G (p.Val585=) n.216C>G c.120-378C>G c.312C>G (p.Val104=) | dbSNP gnomAD v4 |
| 3 | g.52403219G= | CA1364835765 | BAP1 | c.1809C= (p.Val603=) c.1755C= (p.Val585=) n.216C= c.120-378C= c.312C= (p.Val104=) | |
| 3 | g.52403219G>T | CA433885935 | BAP1 | c.1809C>A (p.Val603=) c.1755C>A (p.Val585=) n.216C>A c.120-378C>A c.312C>A (p.Val104=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403220A= | CA1364835771 | BAP1 | c.1808T= (p.Val603=) c.1754T= (p.Val585=) n.215T= c.120-379T= c.311T= (p.Val104=) | |
| 3 | g.52403220A>C | CA353098651 | BAP1 | c.1808T>G (p.Val603Gly) c.1754T>G (p.Val585Gly) n.215T>G c.120-379T>G c.311T>G (p.Val104Gly) | dbSNP |
| 3 | g.52403220A>G | CA353098656 | BAP1 | c.1808T>C (p.Val603Ala) c.1754T>C (p.Val585Ala) n.215T>C c.120-379T>C c.311T>C (p.Val104Ala) | ClinVar dbSNP |
| 3 | g.52403220A>T | CA353098658 | BAP1 | c.1808T>A (p.Val603Asp) c.1754T>A (p.Val585Asp) n.215T>A c.120-379T>A c.311T>A (p.Val104Asp) | dbSNP |
| 3 | g.52403221C>A | CA353098673 | BAP1 | c.1807G>T (p.Val603Phe) c.1753G>T (p.Val585Phe) n.214G>T c.120-380G>T c.310G>T (p.Val104Phe) | ClinVar dbSNP |
| 3 | g.52403221C= | CA1364835780 | BAP1 | c.1807G= (p.Val603=) c.1753G= (p.Val585=) n.214G= c.120-380G= c.310G= (p.Val104=) | |
| 3 | g.52403221C>G | CA353098677 | BAP1 | c.1807G>C (p.Val603Leu) c.1753G>C (p.Val585Leu) n.214G>C c.120-380G>C c.310G>C (p.Val104Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403221C>T | CA353098683 | BAP1 | c.1807G>A (p.Val603Ile) c.1753G>A (p.Val585Ile) n.214G>A c.120-380G>A c.310G>A (p.Val104Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403224_52403226del | CA433885941 | BAP1 | c.1805_1807del (p.Glu602del) c.1751_1753del (p.Glu584del) n.212_214del c.120-382_120-380del c.308_310del (p.Glu103del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403222_52403241del | CA645529893 | BAP1 | c.1788_1807del (p.Ser597ArgfsTer?) c.1734_1753del (p.Ser579ArgfsTer?) n.195_214del c.120-399_120-380del c.291_310del (p.Ser98ArgfsTer?) c.1788_1807del (p.Ser597ArgfsTer24) | COSMIC |
| 3 | g.52403222C>A | CA353098688 | BAP1 | c.1806G>T (p.Glu602Asp) c.1752G>T (p.Glu584Asp) n.213G>T c.120-381G>T c.309G>T (p.Glu103Asp) | |
| 3 | g.52403222C= | CA1364835784 | BAP1 | c.1806G= (p.Glu602=) c.1752G= (p.Glu584=) n.213G= c.120-381G= c.309G= (p.Glu103=) | |
| 3 | g.52403222C>G | CA353098691 | BAP1 | c.1806G>C (p.Glu602Asp) c.1752G>C (p.Glu584Asp) n.213G>C c.120-381G>C c.309G>C (p.Glu103Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403222C>T | CA2436711 | BAP1 | c.1806G>A (p.Glu602=) c.1752G>A (p.Glu584=) n.213G>A c.120-381G>A c.309G>A (p.Glu103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403223T>A | CA2436712 | BAP1 | c.1805A>T (p.Glu602Val) c.1751A>T (p.Glu584Val) n.212A>T c.120-382A>T c.308A>T (p.Glu103Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403223T>C | CA353098693 | BAP1 | c.1805A>G (p.Glu602Gly) c.1751A>G (p.Glu584Gly) n.212A>G c.120-382A>G c.308A>G (p.Glu103Gly) | ClinVar dbSNP |
| 3 | g.52403223T>G | CA353098696 | BAP1 | c.1805A>C (p.Glu602Ala) c.1751A>C (p.Glu584Ala) n.212A>C c.120-382A>C c.308A>C (p.Glu103Ala) | |
| 3 | g.52403223T= | CA1364835795 | BAP1 | c.1805A= (p.Glu602=) c.1751A= (p.Glu584=) n.212A= c.120-382A= c.308A= (p.Glu103=) | |
| 3 | g.52403223_52403227delinsACCTC | CA16611330 | BAP1 | c.1801_1805delinsGAGGT (p.Lys601_Glu602delinsGluVal) c.1747_1751delinsGAGGT (p.Lys583_Glu584delinsGluVal) n.208_212delinsGAGGT c.120-386_120-382delinsGAGGT c.304_308delinsGAGGT (p.Lys102_Glu103delinsGluVal) | ClinVar dbSNP |
| 3 | g.52403223_52403227delinsTCCTT | CA1364835801 | BAP1 | c.1801_1805delinsAAGGA (p.Lys601=) c.1747_1751delinsAAGGA (p.Lys583=) n.208_212delinsAAGGA c.120-386_120-382delinsAAGGA c.304_308delinsAAGGA (p.Lys102=) | |
| 3 | g.52403224C>A | CA353098701 | BAP1 | c.1804G>T (p.Glu602Ter) c.1750G>T (p.Glu584Ter) n.211G>T c.120-383G>T c.307G>T (p.Glu103Ter) | |
| 3 | g.52403224C>G | CA353098714 | BAP1 | c.1804G>C (p.Glu602Gln) c.1750G>C (p.Glu584Gln) n.211G>C c.120-383G>C c.307G>C (p.Glu103Gln) | dbSNP gnomAD v4 |
| 3 | g.52403224C>T | CA353098717 | BAP1 | c.1804G>A (p.Glu602Lys) c.1750G>A (p.Glu584Lys) n.211G>A c.120-383G>A c.307G>A (p.Glu103Lys) | dbSNP |
| 3 | g.52403225del | CA645529894 | BAP1 | c.1804del (p.Glu602ArgfsTer15) c.1750del (p.Glu584ArgfsTer15) n.211del c.120-383del c.307del (p.Glu103ArgfsTer15) c.1804del (p.Glu602ArgfsTer?) c.1804del (p.Glu602ArgfsTer20) | COSMIC |
| 3 | g.52403224_52403227delinsCCTT | CA1364835810 | BAP1 | c.1801_1804delinsAAGG (p.Lys601=) c.1747_1750delinsAAGG (p.Lys583=) n.208_211delinsAAGG c.120-386_120-383delinsAAGG c.304_307delinsAAGG (p.Lys102=) | |
| 3 | g.52403225C>A | CA353098718 | BAP1 | c.1803G>T (p.Lys601Asn) c.1749G>T (p.Lys583Asn) n.210G>T c.120-384G>T c.306G>T (p.Lys102Asn) | ClinVar |
| 3 | g.52403225C= | CA1364835813 | BAP1 | c.1803G= (p.Lys601=) c.1749G= (p.Lys583=) n.210G= c.120-384G= c.306G= (p.Lys102=) | |
| 3 | g.52403225C>G | CA353098719 | BAP1 | c.1803G>C (p.Lys601Asn) c.1749G>C (p.Lys583Asn) n.210G>C c.120-384G>C c.306G>C (p.Lys102Asn) | |
| 3 | g.52403225C>T | CA433885946 | BAP1 | c.1803G>A (p.Lys601=) c.1749G>A (p.Lys583=) n.210G>A c.120-384G>A c.306G>A (p.Lys102=) | ClinVar dbSNP |
| 3 | g.52403227_52403229del | CA543056565 | BAP1 | c.1801_1803del (p.Lys601del) c.1747_1749del (p.Lys583del) n.208_210del c.120-386_120-384del c.304_306del (p.Lys102del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403226T>A | CA353098720 | BAP1 | c.1802A>T (p.Lys601Met) c.1748A>T (p.Lys583Met) n.209A>T c.120-385A>T c.305A>T (p.Lys102Met) | dbSNP |
| 3 | g.52403226T>C | CA353098721 | BAP1 | c.1802A>G (p.Lys601Arg) c.1748A>G (p.Lys583Arg) n.209A>G c.120-385A>G c.305A>G (p.Lys102Arg) | dbSNP |
| 3 | g.52403226T>G | CA353098722 | BAP1 | c.1802A>C (p.Lys601Thr) c.1748A>C (p.Lys583Thr) n.209A>C c.120-385A>C c.305A>C (p.Lys102Thr) | |
| 3 | g.52403227T>A | CA353098724 | BAP1 | c.1801A>T (p.Lys601Ter) c.1747A>T (p.Lys583Ter) n.208A>T c.120-386A>T c.304A>T (p.Lys102Ter) | ClinVar |
| 3 | g.52403227T>C | CA2436713 | BAP1 | c.1801A>G (p.Lys601Glu) c.1747A>G (p.Lys583Glu) n.208A>G c.120-386A>G c.304A>G (p.Lys102Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403227T>G | CA353098727 | BAP1 | c.1801A>C (p.Lys601Gln) c.1747A>C (p.Lys583Gln) n.208A>C c.120-386A>C c.304A>C (p.Lys102Gln) | |
| 3 | g.52403227T= | CA1364835817 | BAP1 | c.1801A= (p.Lys601=) c.1747A= (p.Lys583=) n.208A= c.120-386A= c.304A= (p.Lys102=) | |
| 3 | g.52403228C>A | CA353098728 | BAP1 | c.1800G>T (p.Glu600Asp) c.1746G>T (p.Glu582Asp) n.207G>T c.120-387G>T c.303G>T (p.Glu101Asp) | |
| 3 | g.52403228C>G | CA353098730 | BAP1 | c.1800G>C (p.Glu600Asp) c.1746G>C (p.Glu582Asp) n.207G>C c.120-387G>C c.303G>C (p.Glu101Asp) | dbSNP |
| 3 | g.52403228C>T | CA433885947 | BAP1 | c.1800G>A (p.Glu600=) c.1746G>A (p.Glu582=) n.207G>A c.120-387G>A c.303G>A (p.Glu101=) | ClinVar dbSNP |
| 3 | g.52403229_52403231del | CA2666009035 | BAP1 | c.1798_1800del (p.Glu600del) c.1744_1746del (p.Glu582del) n.205_207del c.120-389_120-387del c.301_303del (p.Glu101del) | gnomAD v4 |
| 3 | g.52403228_52403229insGT | CA645529895 | BAP1 | c.1799_1800insAC (p.Lys601ArgfsTer17) c.1745_1746insAC (p.Lys583ArgfsTer17) n.206_207insAC c.120-388_120-387insAC c.302_303insAC (p.Lys102ArgfsTer17) c.1799_1800insAC (p.Lys601ArgfsTer?) c.1799_1800insAC (p.Lys601ArgfsTer22) | COSMIC |
| 3 | g.52403229T>A | CA353098731 | BAP1 | c.1799A>T (p.Glu600Val) c.1745A>T (p.Glu582Val) n.206A>T c.120-388A>T c.302A>T (p.Glu101Val) | |
| 3 | g.52403229T>C | CA353098735 | BAP1 | c.1799A>G (p.Glu600Gly) c.1745A>G (p.Glu582Gly) n.206A>G c.120-388A>G c.302A>G (p.Glu101Gly) | |
| 3 | g.52403229T>G | CA353098733 | BAP1 | c.1799A>C (p.Glu600Ala) c.1745A>C (p.Glu582Ala) n.206A>C c.120-388A>C c.302A>C (p.Glu101Ala) | |
| 3 | g.52403230C>A | CA353098740 | BAP1 | c.1798G>T (p.Glu600Ter) c.1744G>T (p.Glu582Ter) n.205G>T c.120-389G>T c.301G>T (p.Glu101Ter) | dbSNP |
| 3 | g.52403230C>G | CA353098744 | BAP1 | c.1798G>C (p.Glu600Gln) c.1744G>C (p.Glu582Gln) n.205G>C c.120-389G>C c.301G>C (p.Glu101Gln) | dbSNP |
| 3 | g.52403230C>T | CA353098743 | BAP1 | c.1798G>A (p.Glu600Lys) c.1744G>A (p.Glu582Lys) n.205G>A c.120-389G>A c.301G>A (p.Glu101Lys) | dbSNP COSMIC |
| 3 | g.52403231del | CA2702827543 | BAP1 | c.1798del (p.Glu600ArgfsTer17) c.1744del (p.Glu582ArgfsTer17) n.205del c.120-389del c.301del (p.Glu101ArgfsTer17) c.1798del (p.Glu600ArgfsTer?) c.1798del (p.Glu600ArgfsTer22) | dbSNP |
| 3 | g.52403231C>A | CA433885949 | BAP1 | c.1797G>T (p.Val599=) c.1743G>T (p.Val581=) n.204G>T c.120-390G>T c.300G>T (p.Val100=) | |
| 3 | g.52403231C= | CA1364835829 | BAP1 | c.1797G= (p.Val599=) c.1743G= (p.Val581=) n.204G= c.120-390G= c.300G= (p.Val100=) | |
| 3 | g.52403231C>G | CA433885950 | BAP1 | c.1797G>C (p.Val599=) c.1743G>C (p.Val581=) n.204G>C c.120-390G>C c.300G>C (p.Val100=) | dbSNP |
| 3 | g.52403231C>T | CA2436714 | BAP1 | c.1797G>A (p.Val599=) c.1743G>A (p.Val581=) n.204G>A c.120-390G>A c.300G>A (p.Val100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403231_52403234del | CA645529896 | BAP1 | c.1794_1797del (p.Val599ArgfsTer17) c.1740_1743del (p.Val581ArgfsTer17) n.201_204del c.120-393_120-390del c.297_300del (p.Val100ArgfsTer17) c.1794_1797del (p.Val599ArgfsTer?) c.1794_1797del (p.Val599ArgfsTer22) | COSMIC |
| 3 | g.52403232A>C | CA353098747 | BAP1 | c.1796T>G (p.Val599Gly) c.1742T>G (p.Val581Gly) n.203T>G c.120-391T>G c.299T>G (p.Val100Gly) | dbSNP |
| 3 | g.52403232A>G | CA353098773 | BAP1 | c.1796T>C (p.Val599Ala) c.1742T>C (p.Val581Ala) n.203T>C c.120-391T>C c.299T>C (p.Val100Ala) | dbSNP |
| 3 | g.52403232A>T | CA353098776 | BAP1 | c.1796T>A (p.Val599Glu) c.1742T>A (p.Val581Glu) n.203T>A c.120-391T>A c.299T>A (p.Val100Glu) | dbSNP |
| 3 | g.52403233C>A | CA353098779 | BAP1 | c.1795G>T (p.Val599Leu) c.1741G>T (p.Val581Leu) n.202G>T c.120-392G>T c.298G>T (p.Val100Leu) | |
| 3 | g.52403233C>G | CA353098783 | BAP1 | c.1795G>C (p.Val599Leu) c.1741G>C (p.Val581Leu) n.202G>C c.120-392G>C c.298G>C (p.Val100Leu) | dbSNP |
| 3 | g.52403233C>T | CA353098788 | BAP1 | c.1795G>A (p.Val599Met) c.1741G>A (p.Val581Met) n.202G>A c.120-392G>A c.298G>A (p.Val100Met) | ClinVar dbSNP |
| 3 | g.52403234T>A | CA433885953 | BAP1 | c.1794A>T (p.Pro598=) c.1740A>T (p.Pro580=) n.201A>T c.120-393A>T c.297A>T (p.Pro99=) | gnomAD v4 |
| 3 | g.52403234T>C | CA433885954 | BAP1 | c.1794A>G (p.Pro598=) c.1740A>G (p.Pro580=) n.201A>G c.120-393A>G c.297A>G (p.Pro99=) | gnomAD v4 |
| 3 | g.52403234T>G | CA433885955 | BAP1 | c.1794A>C (p.Pro598=) c.1740A>C (p.Pro580=) n.201A>C c.120-393A>C c.297A>C (p.Pro99=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403234T= | CA1364835836 | BAP1 | c.1794A= (p.Pro598=) c.1740A= (p.Pro580=) n.201A= c.120-393A= c.297A= (p.Pro99=) | |
| 3 | g.52403235G>A | CA2436715 | BAP1 | c.1793C>T (p.Pro598Leu) c.1739C>T (p.Pro580Leu) n.200C>T c.120-394C>T c.296C>T (p.Pro99Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403235G>C | CA353098792 | BAP1 | c.1793C>G (p.Pro598Arg) c.1739C>G (p.Pro580Arg) n.200C>G c.120-394C>G c.296C>G (p.Pro99Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403235G= | CA1364835842 | BAP1 | c.1793C= (p.Pro598=) c.1739C= (p.Pro580=) n.200C= c.120-394C= c.296C= (p.Pro99=) | |
| 3 | g.52403235G>T | CA353098803 | BAP1 | c.1793C>A (p.Pro598Gln) c.1739C>A (p.Pro580Gln) n.200C>A c.120-394C>A c.296C>A (p.Pro99Gln) | |
| 3 | g.52403237del | CA433885956 | BAP1 | c.1793del (p.Pro598GlnfsTer19) c.1739del (p.Pro580GlnfsTer19) n.200del c.120-394del c.296del (p.Pro99GlnfsTer19) c.1793del (p.Pro598GlnfsTer?) c.1793del (p.Pro598GlnfsTer24) | ClinVar dbSNP COSMIC |
| 3 | g.52403236G>A | CA353098812 | BAP1 | c.1792C>T (p.Pro598Ser) c.1738C>T (p.Pro580Ser) n.199C>T c.120-395C>T c.295C>T (p.Pro99Ser) | |
| 3 | g.52403236G>C | CA353098810 | BAP1 | c.1792C>G (p.Pro598Ala) c.1738C>G (p.Pro580Ala) n.199C>G c.120-395C>G c.295C>G (p.Pro99Ala) | |
| 3 | g.52403236G>T | CA353098807 | BAP1 | c.1792C>A (p.Pro598Thr) c.1738C>A (p.Pro580Thr) n.199C>A c.120-395C>A c.295C>A (p.Pro99Thr) | |
| 3 | g.52403237G>A | CA2436716 | BAP1 | c.1791C>T (p.Ser597=) c.1737C>T (p.Ser579=) n.198C>T c.120-396C>T c.294C>T (p.Ser98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403237G>C | CA353098817 | BAP1 | c.1791C>G (p.Ser597Arg) c.1737C>G (p.Ser579Arg) n.198C>G c.120-396C>G c.294C>G (p.Ser98Arg) | dbSNP |
| 3 | g.52403237G= | CA1364835851 | BAP1 | c.1791C= (p.Ser597=) c.1737C= (p.Ser579=) n.198C= c.120-396C= c.294C= (p.Ser98=) | |
| 3 | g.52403237G>T | CA353098819 | BAP1 | c.1791C>A (p.Ser597Arg) c.1737C>A (p.Ser579Arg) n.198C>A c.120-396C>A c.294C>A (p.Ser98Arg) | dbSNP |
| 3 | g.52403238C>A | CA74740377 | BAP1 | c.1790G>T (p.Ser597Ile) c.1736G>T (p.Ser579Ile) n.197G>T c.120-397G>T c.293G>T (p.Ser98Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403238C= | CA1364835856 | BAP1 | c.1790G= (p.Ser597=) c.1736G= (p.Ser579=) n.197G= c.120-397G= c.293G= (p.Ser98=) | |
| 3 | g.52403238C>G | CA353098825 | BAP1 | c.1790G>C (p.Ser597Thr) c.1736G>C (p.Ser579Thr) n.197G>C c.120-397G>C c.293G>C (p.Ser98Thr) | dbSNP |
| 3 | g.52403238C>T | CA2436717 | BAP1 | c.1790G>A (p.Ser597Asn) c.1736G>A (p.Ser579Asn) n.197G>A c.120-397G>A c.293G>A (p.Ser98Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403239T>A | CA353098834 | BAP1 | c.1789A>T (p.Ser597Cys) c.1735A>T (p.Ser579Cys) n.196A>T c.120-398A>T c.292A>T (p.Ser98Cys) | dbSNP |
| 3 | g.52403239T>C | CA353098843 | BAP1 | c.1789A>G (p.Ser597Gly) c.1735A>G (p.Ser579Gly) n.196A>G c.120-398A>G c.292A>G (p.Ser98Gly) | |
| 3 | g.52403239T>G | CA353098845 | BAP1 | c.1789A>C (p.Ser597Arg) c.1735A>C (p.Ser579Arg) n.196A>C c.120-398A>C c.292A>C (p.Ser98Arg) | ClinVar dbSNP |
| 3 | g.52403239T= | CA1364835867 | BAP1 | c.1789A= (p.Ser597=) c.1735A= (p.Ser579=) n.196A= c.120-398A= c.292A= (p.Ser98=) | |
| 3 | g.52403240G>A | CA433885964 | BAP1 | c.1788C>T (p.Ser596=) c.1734C>T (p.Ser578=) n.195C>T c.120-399C>T c.291C>T (p.Ser97=) | dbSNP gnomAD v4 |
| 3 | g.52403240G>C | CA353098850 | BAP1 | c.1788C>G (p.Ser596Arg) c.1734C>G (p.Ser578Arg) n.195C>G c.120-399C>G c.291C>G (p.Ser97Arg) | ClinVar dbSNP |
| 3 | g.52403240G>T | CA353098856 | BAP1 | c.1788C>A (p.Ser596Arg) c.1734C>A (p.Ser578Arg) n.195C>A c.120-399C>A c.291C>A (p.Ser97Arg) | |
| 3 | g.52403241C>A | CA353098867 | BAP1 | c.1787G>T (p.Ser596Ile) c.1733G>T (p.Ser578Ile) n.194G>T c.120-400G>T c.290G>T (p.Ser97Ile) | dbSNP |
| 3 | g.52403241C= | CA1364835873 | BAP1 | c.1787G= (p.Ser596=) c.1733G= (p.Ser578=) n.194G= c.120-400G= c.290G= (p.Ser97=) | |
| 3 | g.52403241C>G | CA353098868 | BAP1 | c.1787G>C (p.Ser596Thr) c.1733G>C (p.Ser578Thr) n.194G>C c.120-400G>C c.290G>C (p.Ser97Thr) | ClinVar dbSNP |
| 3 | g.52403241C>T | CA353098862 | BAP1 | c.1787G>A (p.Ser596Asn) c.1733G>A (p.Ser578Asn) n.194G>A c.120-400G>A c.290G>A (p.Ser97Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403242del | CA2573137309 | BAP1 | c.1786del (p.Ser596AlafsTer21) c.1732del (p.Ser578AlafsTer21) n.193del c.120-401del c.289del (p.Ser97AlafsTer21) c.1786del (p.Ser596AlafsTer?) c.1786del (p.Ser596AlafsTer26) | ClinVar dbSNP |
| 3 | g.52403242T>A | CA353098871 | BAP1 | c.1786A>T (p.Ser596Cys) c.1732A>T (p.Ser578Cys) n.193A>T c.120-401A>T c.289A>T (p.Ser97Cys) | |
| 3 | g.52403242T>C | CA157253 | BAP1 | c.1786A>G (p.Ser596Gly) c.1732A>G (p.Ser578Gly) n.193A>G c.120-401A>G c.289A>G (p.Ser97Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403242T>G | CA353098879 | BAP1 | c.1786A>C (p.Ser596Arg) c.1732A>C (p.Ser578Arg) n.193A>C c.120-401A>C c.289A>C (p.Ser97Arg) | |
| 3 | g.52403242T= | CA1364835880 | BAP1 | c.1786A= (p.Ser596=) c.1732A= (p.Ser578=) n.193A= c.120-401A= c.289A= (p.Ser97=) | |
| 3 | g.52403243G>A | CA433885971 | BAP1 | c.1785C>T (p.Ser595=) c.1731C>T (p.Ser577=) n.192C>T c.120-402C>T c.288C>T (p.Ser96=) | ClinVar dbSNP |
| 3 | g.52403243G>C | CA433885972 | BAP1 | c.1785C>G (p.Ser595=) c.1731C>G (p.Ser577=) n.192C>G c.120-402C>G c.288C>G (p.Ser96=) | ClinVar dbSNP |
| 3 | g.52403243G= | CA1364835883 | BAP1 | c.1785C= (p.Ser595=) c.1731C= (p.Ser577=) n.192C= c.120-402C= c.288C= (p.Ser96=) | |
| 3 | g.52403243G>T | CA433885973 | BAP1 | c.1785C>A (p.Ser595=) c.1731C>A (p.Ser577=) n.192C>A c.120-402C>A c.288C>A (p.Ser96=) | |
| 3 | g.52403244G>A | CA353098881 | BAP1 | c.1784C>T (p.Ser595Phe) c.1730C>T (p.Ser577Phe) n.191C>T c.120-403C>T c.287C>T (p.Ser96Phe) | dbSNP |
| 3 | g.52403244G>C | CA353098887 | BAP1 | c.1784C>G (p.Ser595Cys) c.1730C>G (p.Ser577Cys) n.191C>G c.120-403C>G c.287C>G (p.Ser96Cys) | dbSNP gnomAD v4 |
| 3 | g.52403244G>T | CA353098903 | BAP1 | c.1784C>A (p.Ser595Tyr) c.1730C>A (p.Ser577Tyr) n.191C>A c.120-403C>A c.287C>A (p.Ser96Tyr) | dbSNP |
| 3 | g.52403245A>C | CA353098904 | BAP1 | c.1783T>G (p.Ser595Ala) c.1729T>G (p.Ser577Ala) n.190T>G c.120-404T>G c.286T>G (p.Ser96Ala) | |
| 3 | g.52403245A>G | CA353098905 | BAP1 | c.1783T>C (p.Ser595Pro) c.1729T>C (p.Ser577Pro) n.190T>C c.120-404T>C c.286T>C (p.Ser96Pro) | |
| 3 | g.52403245A>T | CA353098913 | BAP1 | c.1783T>A (p.Ser595Thr) c.1729T>A (p.Ser577Thr) n.190T>A c.120-404T>A c.286T>A (p.Ser96Thr) | |
| 3 | g.52403246C>A | CA433885976 | BAP1 | c.1782G>T (p.Gly594=) c.1728G>T (p.Gly576=) n.189G>T c.120-405G>T c.285G>T (p.Gly95=) | ClinVar dbSNP |
| 3 | g.52403246C= | CA1364835886 | BAP1 | c.1782G= (p.Gly594=) c.1728G= (p.Gly576=) n.189G= c.120-405G= c.285G= (p.Gly95=) | |
| 3 | g.52403246C>G | CA433885977 | BAP1 | c.1782G>C (p.Gly594=) c.1728G>C (p.Gly576=) n.189G>C c.120-405G>C c.285G>C (p.Gly95=) | ClinVar dbSNP |
| 3 | g.52403246C>T | CA433885978 | BAP1 | c.1782G>A (p.Gly594=) c.1728G>A (p.Gly576=) n.189G>A c.120-405G>A c.285G>A (p.Gly95=) | ClinVar dbSNP |
| 3 | g.52403249del | CA2702828257 | BAP1 | c.1782del (p.Ser595ProfsTer22) c.1728del (p.Ser577ProfsTer22) n.189del c.120-405del c.285del (p.Ser96ProfsTer22) c.1782del (p.Ser595ProfsTer?) c.1782del (p.Ser595ProfsTer27) | dbSNP |
| 3 | g.52403248_52403249del | CA2586972735 | BAP1 | c.1781_1782del (p.Gly594ValfsTer?) c.1727_1728del (p.Gly576ValfsTer?) n.188_189del c.120-406_120-405del c.284_285del (p.Gly95ValfsTer?) | |
| 3 | g.52403247C>A | CA353098916 | BAP1 | c.1781G>T (p.Gly594Val) c.1727G>T (p.Gly576Val) n.188G>T c.120-406G>T c.284G>T (p.Gly95Val) | dbSNP |
| 3 | g.52403247C= | CA1364835891 | BAP1 | c.1781G= (p.Gly594=) c.1727G= (p.Gly576=) n.188G= c.120-406G= c.284G= (p.Gly95=) | |
| 3 | g.52403247C>G | CA2436718 | BAP1 | c.1781G>C (p.Gly594Ala) c.1727G>C (p.Gly576Ala) n.188G>C c.120-406G>C c.284G>C (p.Gly95Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403247C>T | CA353098922 | BAP1 | c.1781G>A (p.Gly594Glu) c.1727G>A (p.Gly576Glu) n.188G>A c.120-406G>A c.284G>A (p.Gly95Glu) | dbSNP |
| 3 | g.52403247_52403248insA | CA2586972736 | BAP1 | c.1780_1781insT (p.Gly594ValfsTer?) c.1726_1727insT (p.Gly576ValfsTer?) n.187_188insT c.120-407_120-406insT c.283_284insT (p.Gly95ValfsTer?) | gnomAD v4 |
| 3 | g.52403248C>A | CA353098929 | BAP1 | c.1780G>T (p.Gly594Trp) c.1726G>T (p.Gly576Trp) n.187G>T c.120-407G>T c.283G>T (p.Gly95Trp) | dbSNP |
| 3 | g.52403248C= | CA1364835898 | BAP1 | c.1780G= (p.Gly594=) c.1726G= (p.Gly576=) n.187G= c.120-407G= c.283G= (p.Gly95=) | |
| 3 | g.52403248C>G | CA353098933 | BAP1 | c.1780G>C (p.Gly594Arg) c.1726G>C (p.Gly576Arg) n.187G>C c.120-407G>C c.283G>C (p.Gly95Arg) | ClinVar dbSNP |
| 3 | g.52403248C>T | CA353098925 | BAP1 | c.1780G>A (p.Gly594Arg) c.1726G>A (p.Gly576Arg) n.187G>A c.120-407G>A c.283G>A (p.Gly95Arg) | dbSNP gnomAD v4 |
| 3 | g.52403249C>A | CA353098936 | BAP1 | c.1779G>T (p.Gln593His) c.1725G>T (p.Gln575His) n.186G>T c.120-408G>T c.282G>T (p.Gln94His) | gnomAD v4 |
| 3 | g.52403249C>G | CA353098943 | BAP1 | c.1779G>C (p.Gln593His) c.1725G>C (p.Gln575His) n.186G>C c.120-408G>C c.282G>C (p.Gln94His) | dbSNP |
| 3 | g.52403249C>T | CA433885983 | BAP1 | c.1779G>A (p.Gln593=) c.1725G>A (p.Gln575=) n.186G>A c.120-408G>A c.282G>A (p.Gln94=) | |
| 3 | g.52403250del | CA2573137310 | BAP1 | c.1778del (p.Gln593ArgfsTer24) c.1724del (p.Gln575ArgfsTer24) n.185del c.120-409del c.281del (p.Gln94ArgfsTer24) c.1778del (p.Gln593ArgfsTer?) c.1778del (p.Gln593ArgfsTer29) | ClinVar dbSNP |
| 3 | g.52403250T>A | CA353098944 | BAP1 | c.1778A>T (p.Gln593Leu) c.1724A>T (p.Gln575Leu) n.185A>T c.120-409A>T c.281A>T (p.Gln94Leu) | |
| 3 | g.52403250T>C | CA353098947 | BAP1 | c.1778A>G (p.Gln593Arg) c.1724A>G (p.Gln575Arg) n.185A>G c.120-409A>G c.281A>G (p.Gln94Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403250T>G | CA353098948 | BAP1 | c.1778A>C (p.Gln593Pro) c.1724A>C (p.Gln575Pro) n.185A>C c.120-409A>C c.281A>C (p.Gln94Pro) | |
| 3 | g.52403250T= | CA1364835903 | BAP1 | c.1778A= (p.Gln593=) c.1724A= (p.Gln575=) n.185A= c.120-409A= c.281A= (p.Gln94=) | |
| 3 | g.52403251G>A | CA16617996 | BAP1 | c.1777C>T (p.Gln593Ter) c.1723C>T (p.Gln575Ter) n.184C>T c.120-410C>T c.280C>T (p.Gln94Ter) | ClinVar dbSNP |
| 3 | g.52403251G>C | CA353098949 | BAP1 | c.1777C>G (p.Gln593Glu) c.1723C>G (p.Gln575Glu) n.184C>G c.120-410C>G c.280C>G (p.Gln94Glu) | dbSNP |
| 3 | g.52403251G= | CA1364835909 | BAP1 | c.1777C= (p.Gln593=) c.1723C= (p.Gln575=) n.184C= c.120-410C= c.280C= (p.Gln94=) | |
| 3 | g.52403251G>T | CA353098950 | BAP1 | c.1777C>A (p.Gln593Lys) c.1723C>A (p.Gln575Lys) n.184C>A c.120-410C>A c.280C>A (p.Gln94Lys) | dbSNP |
| 3 | g.52403252dup | CA2586972737 | BAP1 | c.1777dup (p.Gln593ProfsTer?) c.1723dup (p.Gln575ProfsTer?) n.184dup c.120-410dup c.280dup (p.Gln94ProfsTer?) | |
| 3 | g.52403252G>A | CA433885992 | BAP1 | c.1776C>T (p.Ser592=) c.1722C>T (p.Ser574=) n.183C>T c.120-411C>T c.279C>T (p.Ser93=) | ClinVar dbSNP |
| 3 | g.52403252G>C | CA353098953 | BAP1 | c.1776C>G (p.Ser592Arg) c.1722C>G (p.Ser574Arg) n.183C>G c.120-411C>G c.279C>G (p.Ser93Arg) | ClinVar dbSNP |
| 3 | g.52403252G>T | CA353098957 | BAP1 | c.1776C>A (p.Ser592Arg) c.1722C>A (p.Ser574Arg) n.183C>A c.120-411C>A c.279C>A (p.Ser93Arg) | dbSNP |
| 3 | g.52403253C>A | CA353098961 | BAP1 | c.1775G>T (p.Ser592Ile) c.1721G>T (p.Ser574Ile) n.182G>T c.120-412G>T c.278G>T (p.Ser93Ile) | dbSNP |
| 3 | g.52403253C= | CA1364835912 | BAP1 | c.1775G= (p.Ser592=) c.1721G= (p.Ser574=) n.182G= c.120-412G= c.278G= (p.Ser93=) | |
| 3 | g.52403253C>G | CA353098964 | BAP1 | c.1775G>C (p.Ser592Thr) c.1721G>C (p.Ser574Thr) n.182G>C c.120-412G>C c.278G>C (p.Ser93Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403253C>T | CA353098966 | BAP1 | c.1775G>A (p.Ser592Asn) c.1721G>A (p.Ser574Asn) n.182G>A c.120-412G>A c.278G>A (p.Ser93Asn) | dbSNP |
| 3 | g.52403254T>A | CA353098972 | BAP1 | c.1774A>T (p.Ser592Cys) c.1720A>T (p.Ser574Cys) n.181A>T c.120-413A>T c.277A>T (p.Ser93Cys) | dbSNP |
| 3 | g.52403254T>C | CA353098969 | BAP1 | c.1774A>G (p.Ser592Gly) c.1720A>G (p.Ser574Gly) n.181A>G c.120-413A>G c.277A>G (p.Ser93Gly) | dbSNP |
| 3 | g.52403254T>G | CA353098968 | BAP1 | c.1774A>C (p.Ser592Arg) c.1720A>C (p.Ser574Arg) n.181A>C c.120-413A>C c.277A>C (p.Ser93Arg) | |
| 3 | g.52403255G>A | CA433886005 | BAP1 | c.1773C>T (p.Gly591=) c.1719C>T (p.Gly573=) n.180C>T c.120-414C>T c.276C>T (p.Gly92=) | dbSNP |
| 3 | g.52403255G>C | CA433886010 | BAP1 | c.1773C>G (p.Gly591=) c.1719C>G (p.Gly573=) n.180C>G c.120-414C>G c.276C>G (p.Gly92=) | dbSNP |
| 3 | g.52403255G>T | CA433886011 | BAP1 | c.1773C>A (p.Gly591=) c.1719C>A (p.Gly573=) n.180C>A c.120-414C>A c.276C>A (p.Gly92=) | |
| 3 | g.52403256C>A | CA74740403 | BAP1 | c.1772G>T (p.Gly591Val) c.1718G>T (p.Gly573Val) n.179G>T c.120-415G>T c.275G>T (p.Gly92Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403256C= | CA1364835914 | BAP1 | c.1772G= (p.Gly591=) c.1718G= (p.Gly573=) n.179G= c.120-415G= c.275G= (p.Gly92=) | |
| 3 | g.52403256C>G | CA353098979 | BAP1 | c.1772G>C (p.Gly591Ala) c.1718G>C (p.Gly573Ala) n.179G>C c.120-415G>C c.275G>C (p.Gly92Ala) | dbSNP |
| 3 | g.52403256C>T | CA353098977 | BAP1 | c.1772G>A (p.Gly591Asp) c.1718G>A (p.Gly573Asp) n.179G>A c.120-415G>A c.275G>A (p.Gly92Asp) | dbSNP |
| 3 | g.52403257C>A | CA353098983 | BAP1 | c.1771G>T (p.Gly591Cys) c.1717G>T (p.Gly573Cys) n.178G>T c.120-416G>T c.274G>T (p.Gly92Cys) | |
| 3 | g.52403257C= | CA1364835918 | BAP1 | c.1771G= (p.Gly591=) c.1717G= (p.Gly573=) n.178G= c.120-416G= c.274G= (p.Gly92=) | |
| 3 | g.52403257C>G | CA353098989 | BAP1 | c.1771G>C (p.Gly591Arg) c.1717G>C (p.Gly573Arg) n.178G>C c.120-416G>C c.274G>C (p.Gly92Arg) | |
| 3 | g.52403257C>T | CA353098991 | BAP1 | c.1771G>A (p.Gly591Ser) c.1717G>A (p.Gly573Ser) n.178G>A c.120-416G>A c.274G>A (p.Gly92Ser) | dbSNP |
| 3 | g.52403258T>A | CA353098995 | BAP1 | c.1770A>T (p.Gln590His) c.1716A>T (p.Gln572His) n.177A>T c.120-417A>T c.273A>T (p.Gln91His) | ClinVar dbSNP |
| 3 | g.52403258T>C | CA433886025 | BAP1 | c.1770A>G (p.Gln590=) c.1716A>G (p.Gln572=) n.177A>G c.120-417A>G c.273A>G (p.Gln91=) | dbSNP |
| 3 | g.52403258T>G | CA353098998 | BAP1 | c.1770A>C (p.Gln590His) c.1716A>C (p.Gln572His) n.177A>C c.120-417A>C c.273A>C (p.Gln91His) | dbSNP |
| 3 | g.52403258T= | CA1364835920 | BAP1 | c.1770A= (p.Gln590=) c.1716A= (p.Gln572=) n.177A= c.120-417A= c.273A= (p.Gln91=) | |
| 3 | g.52403262_52403266del | CA2499216936 | BAP1 | c.1766_1770del (p.Ile589ArgfsTer?) c.1712_1716del (p.Ile571ArgfsTer?) n.173_177del c.120-421_120-417del c.269_273del (p.Ile90ArgfsTer?) | ClinVar dbSNP |
| 3 | g.52403259T>A | CA2436719 | BAP1 | c.1769A>T (p.Gln590Leu) c.1715A>T (p.Gln572Leu) n.176A>T c.120-418A>T c.272A>T (p.Gln91Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403259T>C | CA353099024 | BAP1 | c.1769A>G (p.Gln590Arg) c.1715A>G (p.Gln572Arg) n.176A>G c.120-418A>G c.272A>G (p.Gln91Arg) | |
| 3 | g.52403259T>G | CA353099028 | BAP1 | c.1769A>C (p.Gln590Pro) c.1715A>C (p.Gln572Pro) n.176A>C c.120-418A>C c.272A>C (p.Gln91Pro) | |
| 3 | g.52403259T= | CA1364835924 | BAP1 | c.1769A= (p.Gln590=) c.1715A= (p.Gln572=) n.176A= c.120-418A= c.272A= (p.Gln91=) | |
| 3 | g.52403259_52403260insC | CA645529897 | BAP1 | c.1768_1769insG (p.Gln590ArgfsTer?) c.1714_1715insG (p.Gln572ArgfsTer?) n.175_176insG c.120-419_120-418insG c.271_272insG (p.Gln91ArgfsTer?) | COSMIC |
| 3 | g.52403260G>A | CA353099032 | BAP1 | c.1768C>T (p.Gln590Ter) c.1714C>T (p.Gln572Ter) n.175C>T c.120-419C>T c.271C>T (p.Gln91Ter) | dbSNP COSMIC |
| 3 | g.52403260G>C | CA353099035 | BAP1 | c.1768C>G (p.Gln590Glu) c.1714C>G (p.Gln572Glu) n.175C>G c.120-419C>G c.271C>G (p.Gln91Glu) | dbSNP |
| 3 | g.52403260G>T | CA353099038 | BAP1 | c.1768C>A (p.Gln590Lys) c.1714C>A (p.Gln572Lys) n.175C>A c.120-419C>A c.271C>A (p.Gln91Lys) | dbSNP |
| 3 | g.52403261G>A | CA433886030 | BAP1 | c.1767C>T (p.Ile589=) c.1713C>T (p.Ile571=) n.174C>T c.120-420C>T c.270C>T (p.Ile90=) | ClinVar |
| 3 | g.52403261G>C | CA353099042 | BAP1 | c.1767C>G (p.Ile589Met) c.1713C>G (p.Ile571Met) n.174C>G c.120-420C>G c.270C>G (p.Ile90Met) | dbSNP |
| 3 | g.52403261G>T | CA433886031 | BAP1 | c.1767C>A (p.Ile589=) c.1713C>A (p.Ile571=) n.174C>A c.120-420C>A c.270C>A (p.Ile90=) | ClinVar dbSNP |
| 3 | g.52403262A>C | CA353099050 | BAP1 | c.1766T>G (p.Ile589Ser) c.1712T>G (p.Ile571Ser) n.173T>G c.120-421T>G c.269T>G (p.Ile90Ser) | |
| 3 | g.52403262A>G | CA353099045 | BAP1 | c.1766T>C (p.Ile589Thr) c.1712T>C (p.Ile571Thr) n.173T>C c.120-421T>C c.269T>C (p.Ile90Thr) | |
| 3 | g.52403262A>T | CA353099047 | BAP1 | c.1766T>A (p.Ile589Asn) c.1712T>A (p.Ile571Asn) n.173T>A c.120-421T>A c.269T>A (p.Ile90Asn) | |
| 3 | g.52403265_52403266insAATTG | CA2580070219 | BAP1 | c.1766_1767insTCAAT (p.Gly591SerfsTer28) c.1712_1713insTCAAT (p.Gly573SerfsTer28) n.173_174insTCAAT c.120-421_120-420insTCAAT c.269_270insTCAAT (p.Gly92SerfsTer28) c.1766_1767insTCAAT (p.Gly591SerfsTer?) | ClinVar |
| 3 | g.52403263T>A | CA353099059 | BAP1 | c.1765A>T (p.Ile589Phe) c.1711A>T (p.Ile571Phe) n.172A>T c.120-422A>T c.268A>T (p.Ile90Phe) | dbSNP |
| 3 | g.52403263T>C | CA353099077 | BAP1 | c.1765A>G (p.Ile589Val) c.1711A>G (p.Ile571Val) n.172A>G c.120-422A>G c.268A>G (p.Ile90Val) | dbSNP gnomAD v4 |
| 3 | g.52403263T>G | CA353099084 | BAP1 | c.1765A>C (p.Ile589Leu) c.1711A>C (p.Ile571Leu) n.172A>C c.120-422A>C c.268A>C (p.Ile90Leu) | dbSNP |
| 3 | g.52403264T>A | CA433886037 | BAP1 | c.1764A>T (p.Pro588=) c.1710A>T (p.Pro570=) n.171A>T c.120-423A>T c.267A>T (p.Pro89=) | dbSNP |
| 3 | g.52403264T>C | CA433886039 | BAP1 | c.1764A>G (p.Pro588=) c.1710A>G (p.Pro570=) n.171A>G c.120-423A>G c.267A>G (p.Pro89=) | |
| 3 | g.52403264T>G | CA433886035 | BAP1 | c.1764A>C (p.Pro588=) c.1710A>C (p.Pro570=) n.171A>C c.120-423A>C c.267A>C (p.Pro89=) | |
| 3 | g.52403265G>A | CA353099088 | BAP1 | c.1763C>T (p.Pro588Leu) c.1709C>T (p.Pro570Leu) n.170C>T c.120-424C>T c.266C>T (p.Pro89Leu) | ClinVar dbSNP |
| 3 | g.52403265G>C | CA2436720 | BAP1 | c.1763C>G (p.Pro588Arg) c.1709C>G (p.Pro570Arg) n.170C>G c.120-424C>G c.266C>G (p.Pro89Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403265G= | CA1364835935 | BAP1 | c.1763C= (p.Pro588=) c.1709C= (p.Pro570=) n.170C= c.120-424C= c.266C= (p.Pro89=) | |
| 3 | g.52403265G>T | CA353099099 | BAP1 | c.1763C>A (p.Pro588Gln) c.1709C>A (p.Pro570Gln) n.170C>A c.120-424C>A c.266C>A (p.Pro89Gln) | dbSNP |
| 3 | g.52403266G>A | CA353099105 | BAP1 | c.1762C>T (p.Pro588Ser) c.1708C>T (p.Pro570Ser) n.169C>T c.120-425C>T c.265C>T (p.Pro89Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403266G>C | CA353099109 | BAP1 | c.1762C>G (p.Pro588Ala) c.1708C>G (p.Pro570Ala) n.169C>G c.120-425C>G c.265C>G (p.Pro89Ala) | ClinVar dbSNP |
| 3 | g.52403266G= | CA1364835947 | BAP1 | c.1762C= (p.Pro588=) c.1708C= (p.Pro570=) n.169C= c.120-425C= c.265C= (p.Pro89=) | |
| 3 | g.52403266G>T | CA353099115 | BAP1 | c.1762C>A (p.Pro588Thr) c.1708C>A (p.Pro570Thr) n.169C>A c.120-425C>A c.265C>A (p.Pro89Thr) | dbSNP COSMIC |
| 3 | g.52403267T>A | CA353099126 | BAP1 | c.1761A>T (p.Arg587Ser) c.1707A>T (p.Arg569Ser) n.168A>T c.120-426A>T c.264A>T (p.Arg88Ser) | |
| 3 | g.52403267T>C | CA433886050 | BAP1 | c.1761A>G (p.Arg587=) c.1707A>G (p.Arg569=) n.168A>G c.120-426A>G c.264A>G (p.Arg88=) | |
| 3 | g.52403267T>G | CA353099130 | BAP1 | c.1761A>C (p.Arg587Ser) c.1707A>C (p.Arg569Ser) n.168A>C c.120-426A>C c.264A>C (p.Arg88Ser) | |
| 3 | g.52403268C>A | CA353099137 | BAP1 | c.1760G>T (p.Arg587Ile) c.1706G>T (p.Arg569Ile) n.167G>T c.120-427G>T c.263G>T (p.Arg88Ile) | dbSNP |
| 3 | g.52403268C= | CA1364835949 | BAP1 | c.1760G= (p.Arg587=) c.1706G= (p.Arg569=) n.167G= c.120-427G= c.263G= (p.Arg88=) | |
| 3 | g.52403268C>G | CA353099133 | BAP1 | c.1760G>C (p.Arg587Thr) c.1706G>C (p.Arg569Thr) n.167G>C c.120-427G>C c.263G>C (p.Arg88Thr) | dbSNP gnomAD v4 |
| 3 | g.52403268C>T | CA353099131 | BAP1 | c.1760G>A (p.Arg587Lys) c.1706G>A (p.Arg569Lys) n.167G>A c.120-427G>A c.263G>A (p.Arg88Lys) | ClinVar dbSNP |
| 3 | g.52403269T>A | CA353099142 | BAP1 | c.1759A>T (p.Arg587Ter) c.1705A>T (p.Arg569Ter) n.166A>T c.120-428A>T c.262A>T (p.Arg88Ter) | |
| 3 | g.52403269T>C | CA353099145 | BAP1 | c.1759A>G (p.Arg587Gly) c.1705A>G (p.Arg569Gly) n.166A>G c.120-428A>G c.262A>G (p.Arg88Gly) | |
| 3 | g.52403269T>G | CA433886052 | BAP1 | c.1759A>C (p.Arg587=) c.1705A>C (p.Arg569=) n.166A>C c.120-428A>C c.262A>C (p.Arg88=) | |
| 3 | g.52403270G>A | CA433886056 | BAP1 | c.1758C>T (p.Ile586=) c.1704C>T (p.Ile568=) n.165C>T c.120-429C>T c.261C>T (p.Ile87=) | dbSNP |
| 3 | g.52403270G>C | CA353099148 | BAP1 | c.1758C>G (p.Ile586Met) c.1704C>G (p.Ile568Met) n.165C>G c.120-429C>G c.261C>G (p.Ile87Met) | ClinVar dbSNP |
| 3 | g.52403270G>T | CA433886054 | BAP1 | c.1758C>A (p.Ile586=) c.1704C>A (p.Ile568=) n.165C>A c.120-429C>A c.261C>A (p.Ile87=) | |
| 3 | g.52403271A>C | CA353099164 | BAP1 | c.1757T>G (p.Ile586Ser) c.1703T>G (p.Ile568Ser) n.164T>G c.120-430T>G c.260T>G (p.Ile87Ser) | |
| 3 | g.52403271A>G | CA353099173 | BAP1 | c.1757T>C (p.Ile586Thr) c.1703T>C (p.Ile568Thr) n.164T>C c.120-430T>C c.260T>C (p.Ile87Thr) | dbSNP |
| 3 | g.52403271A>T | CA353099177 | BAP1 | c.1757T>A (p.Ile586Asn) c.1703T>A (p.Ile568Asn) n.164T>A c.120-430T>A c.260T>A (p.Ile87Asn) | dbSNP |
| 3 | g.52403272T>A | CA353099187 | BAP1 | c.1756A>T (p.Ile586Phe) c.1702A>T (p.Ile568Phe) n.163A>T c.120-431A>T c.259A>T (p.Ile87Phe) | |
| 3 | g.52403272T>C | CA353099191 | BAP1 | c.1756A>G (p.Ile586Val) c.1702A>G (p.Ile568Val) n.163A>G c.120-431A>G c.259A>G (p.Ile87Val) | |
| 3 | g.52403272T>G | CA353099198 | BAP1 | c.1756A>C (p.Ile586Leu) c.1702A>C (p.Ile568Leu) n.163A>C c.120-431A>C c.259A>C (p.Ile87Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403272T= | CA1364835954 | BAP1 | c.1756A= (p.Ile586=) c.1702A= (p.Ile568=) n.163A= c.120-431A= c.259A= (p.Ile87=) | |
| 3 | g.52403273G>A | CA433886068 | BAP1 | c.1755C>T (p.Ser585=) c.1701C>T (p.Ser567=) n.162C>T c.120-432C>T c.258C>T (p.Ser86=) | dbSNP |
| 3 | g.52403273G>C | CA433886064 | BAP1 | c.1755C>G (p.Ser585=) c.1701C>G (p.Ser567=) n.162C>G c.120-432C>G c.258C>G (p.Ser86=) | |
| 3 | g.52403273G>T | CA433886062 | BAP1 | c.1755C>A (p.Ser585=) c.1701C>A (p.Ser567=) n.162C>A c.120-432C>A c.258C>A (p.Ser86=) | |
| 3 | g.52403274G>A | CA353099200 | BAP1 | c.1754C>T (p.Ser585Phe) c.1700C>T (p.Ser567Phe) n.161C>T c.120-433C>T c.257C>T (p.Ser86Phe) | |
| 3 | g.52403274G>C | CA353099211 | BAP1 | c.1754C>G (p.Ser585Cys) c.1700C>G (p.Ser567Cys) n.161C>G c.120-433C>G c.257C>G (p.Ser86Cys) | |
| 3 | g.52403274G= | CA1364835957 | BAP1 | c.1754C= (p.Ser585=) c.1700C= (p.Ser567=) n.161C= c.120-433C= c.257C= (p.Ser86=) | |
| 3 | g.52403274G>T | CA353099214 | BAP1 | c.1754C>A (p.Ser585Tyr) c.1700C>A (p.Ser567Tyr) n.161C>A c.120-433C>A c.257C>A (p.Ser86Tyr) | ClinVar dbSNP |
| 3 | g.52403275A>C | CA353099221 | BAP1 | c.1753T>G (p.Ser585Ala) c.1699T>G (p.Ser567Ala) n.160T>G c.120-434T>G c.256T>G (p.Ser86Ala) | |
| 3 | g.52403275A>G | CA353099228 | BAP1 | c.1753T>C (p.Ser585Pro) c.1699T>C (p.Ser567Pro) n.160T>C c.120-434T>C c.256T>C (p.Ser86Pro) | dbSNP |
| 3 | g.52403275A>T | CA353099218 | BAP1 | c.1753T>A (p.Ser585Thr) c.1699T>A (p.Ser567Thr) n.160T>A c.120-434T>A c.256T>A (p.Ser86Thr) | dbSNP |
| 3 | g.52403276G>A | CA74740417 | BAP1 | c.1752C>T (p.Pro584=) c.1698C>T (p.Pro566=) n.159C>T c.120-435C>T c.255C>T (p.Pro85=) | ClinVar dbSNP |
| 3 | g.52403276G>C | CA433886075 | BAP1 | c.1752C>G (p.Pro584=) c.1698C>G (p.Pro566=) n.159C>G c.120-435C>G c.255C>G (p.Pro85=) | |
| 3 | g.52403276G= | CA1364835960 | BAP1 | c.1752C= (p.Pro584=) c.1698C= (p.Pro566=) n.159C= c.120-435C= c.255C= (p.Pro85=) | |
| 3 | g.52403276G>T | CA433886076 | BAP1 | c.1752C>A (p.Pro584=) c.1698C>A (p.Pro566=) n.159C>A c.120-435C>A c.255C>A (p.Pro85=) | dbSNP |
| 3 | g.52403277G>A | CA353099231 | BAP1 | c.1751C>T (p.Pro584Leu) c.1697C>T (p.Pro566Leu) n.158C>T c.120-436C>T c.254C>T (p.Pro85Leu) | dbSNP |
| 3 | g.52403277G>C | CA353099232 | BAP1 | c.1751C>G (p.Pro584Arg) c.1697C>G (p.Pro566Arg) n.158C>G c.120-436C>G c.254C>G (p.Pro85Arg) | |
| 3 | g.52403277G= | CA1364835966 | BAP1 | c.1751C= (p.Pro584=) c.1697C= (p.Pro566=) n.158C= c.120-436C= c.254C= (p.Pro85=) | |
| 3 | g.52403277G>T | CA2436721 | BAP1 | c.1751C>A (p.Pro584His) c.1697C>A (p.Pro566His) n.158C>A c.120-436C>A c.254C>A (p.Pro85His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403278G>A | CA353099244 | BAP1 | c.1750C>T (p.Pro584Ser) c.1696C>T (p.Pro566Ser) n.157C>T c.120-437C>T c.253C>T (p.Pro85Ser) | ClinVar dbSNP |
| 3 | g.52403278G>C | CA353099241 | BAP1 | c.1750C>G (p.Pro584Ala) c.1696C>G (p.Pro566Ala) n.157C>G c.120-437C>G c.253C>G (p.Pro85Ala) | dbSNP |
| 3 | g.52403278G= | CA1364835969 | BAP1 | c.1750C= (p.Pro584=) c.1696C= (p.Pro566=) n.157C= c.120-437C= c.253C= (p.Pro85=) | |
| 3 | g.52403278G>T | CA353099236 | BAP1 | c.1750C>A (p.Pro584Thr) c.1696C>A (p.Pro566Thr) n.157C>A c.120-437C>A c.253C>A (p.Pro85Thr) | dbSNP |
| 3 | g.52403279C>A | CA433886082 | BAP1 | c.1749G>T (p.Ser583=) c.1695G>T (p.Ser565=) n.156G>T c.120-438G>T c.252G>T (p.Ser84=) | ClinVar dbSNP |
| 3 | g.52403279C= | CA1364835974 | BAP1 | c.1749G= (p.Ser583=) c.1695G= (p.Ser565=) n.156G= c.120-438G= c.252G= (p.Ser84=) | |
| 3 | g.52403279C>G | CA433886084 | BAP1 | c.1749G>C (p.Ser583=) c.1695G>C (p.Ser565=) n.156G>C c.120-438G>C c.252G>C (p.Ser84=) | |
| 3 | g.52403279C>T | CA2436722 | BAP1 | c.1749G>A (p.Ser583=) c.1695G>A (p.Ser565=) n.156G>A c.120-438G>A c.252G>A (p.Ser84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403280G>A | CA16611516 | BAP1 | c.1748C>T (p.Ser583Leu) c.1694C>T (p.Ser565Leu) n.155C>T c.120-439C>T c.251C>T (p.Ser84Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403280G>C | CA353099265 | BAP1 | c.1748C>G (p.Ser583Trp) c.1694C>G (p.Ser565Trp) n.155C>G c.120-439C>G c.251C>G (p.Ser84Trp) | dbSNP |
| 3 | g.52403280G= | CA1364835983 | BAP1 | c.1748C= (p.Ser583=) c.1694C= (p.Ser565=) n.155C= c.120-439C= c.251C= (p.Ser84=) | |
| 3 | g.52403280G>T | CA353099268 | BAP1 | c.1748C>A (p.Ser583Ter) c.1694C>A (p.Ser565Ter) n.155C>A c.120-439C>A c.251C>A (p.Ser84Ter) | |
| 3 | g.52403281A>C | CA353099271 | BAP1 | c.1747T>G (p.Ser583Ala) c.1693T>G (p.Ser565Ala) n.154T>G c.120-440T>G c.250T>G (p.Ser84Ala) | |
| 3 | g.52403281A>G | CA353099272 | BAP1 | c.1747T>C (p.Ser583Pro) c.1693T>C (p.Ser565Pro) n.154T>C c.120-440T>C c.250T>C (p.Ser84Pro) | dbSNP |
| 3 | g.52403281A>T | CA353099275 | BAP1 | c.1747T>A (p.Ser583Thr) c.1693T>A (p.Ser565Thr) n.154T>A c.120-440T>A c.250T>A (p.Ser84Thr) | dbSNP |
| 3 | g.52403282G>A | CA433886095 | BAP1 | c.1746C>T (p.Ser582=) c.1692C>T (p.Ser564=) n.153C>T c.120-441C>T c.249C>T (p.Ser83=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403282G>C | CA433886098 | BAP1 | c.1746C>G (p.Ser582=) c.1692C>G (p.Ser564=) n.153C>G c.120-441C>G c.249C>G (p.Ser83=) | |
| 3 | g.52403282G= | CA1364835995 | BAP1 | c.1746C= (p.Ser582=) c.1692C= (p.Ser564=) n.153C= c.120-441C= c.249C= (p.Ser83=) | |
| 3 | g.52403282G>T | CA433886099 | BAP1 | c.1746C>A (p.Ser582=) c.1692C>A (p.Ser564=) n.153C>A c.120-441C>A c.249C>A (p.Ser83=) | dbSNP gnomAD v4 |
| 3 | g.52403282_52403283delinsAAA | CA2586972738 | BAP1 | c.1745_1746delinsTTT (p.Ser582PhefsTer?) c.1691_1692delinsTTT (p.Ser564PhefsTer?) n.152_153delinsTTT c.120-442_120-441delinsTTT c.248_249delinsTTT (p.Ser83PhefsTer?) | |
| 3 | g.52403283G>A | CA353099282 | BAP1 | c.1745C>T (p.Ser582Phe) c.1691C>T (p.Ser564Phe) n.152C>T c.120-442C>T c.248C>T (p.Ser83Phe) | ClinVar dbSNP |
| 3 | g.52403283G>C | CA353099283 | BAP1 | c.1745C>G (p.Ser582Cys) c.1691C>G (p.Ser564Cys) n.152C>G c.120-442C>G c.248C>G (p.Ser83Cys) | dbSNP |
| 3 | g.52403283G= | CA1364836000 | BAP1 | c.1745C= (p.Ser582=) c.1691C= (p.Ser564=) n.152C= c.120-442C= c.248C= (p.Ser83=) | |
| 3 | g.52403283G>T | CA353099278 | BAP1 | c.1745C>A (p.Ser582Tyr) c.1691C>A (p.Ser564Tyr) n.152C>A c.120-442C>A c.248C>A (p.Ser83Tyr) | |
| 3 | g.52403284A>C | CA353099284 | BAP1 | c.1744T>G (p.Ser582Ala) c.1690T>G (p.Ser564Ala) n.151T>G c.120-443T>G c.247T>G (p.Ser83Ala) | dbSNP |
| 3 | g.52403284A>G | CA353099286 | BAP1 | c.1744T>C (p.Ser582Pro) c.1690T>C (p.Ser564Pro) n.151T>C c.120-443T>C c.247T>C (p.Ser83Pro) | dbSNP |
| 3 | g.52403284A>T | CA353099285 | BAP1 | c.1744T>A (p.Ser582Thr) c.1690T>A (p.Ser564Thr) n.151T>A c.120-443T>A c.247T>A (p.Ser83Thr) | dbSNP |
| 3 | g.52403285A>C | CA433886115 | BAP1 | c.1743T>G (p.Gly581=) c.1689T>G (p.Gly563=) n.150T>G c.120-444T>G c.246T>G (p.Gly82=) | dbSNP |
| 3 | g.52403285A>G | CA433886116 | BAP1 | c.1743T>C (p.Gly581=) c.1689T>C (p.Gly563=) n.150T>C c.120-444T>C c.246T>C (p.Gly82=) | dbSNP |
| 3 | g.52403285A>T | CA433886117 | BAP1 | c.1743T>A (p.Gly581=) c.1689T>A (p.Gly563=) n.150T>A c.120-444T>A c.246T>A (p.Gly82=) | dbSNP |
| 3 | g.52403286C>A | CA353099289 | BAP1 | c.1742G>T (p.Gly581Val) c.1688G>T (p.Gly563Val) n.149G>T c.120-445G>T c.245G>T (p.Gly82Val) | ClinVar dbSNP |
| 3 | g.52403286C= | CA1364836006 | BAP1 | c.1742G= (p.Gly581=) c.1688G= (p.Gly563=) n.149G= c.120-445G= c.245G= (p.Gly82=) | |
| 3 | g.52403286C>G | CA353099299 | BAP1 | c.1742G>C (p.Gly581Ala) c.1688G>C (p.Gly563Ala) n.149G>C c.120-445G>C c.245G>C (p.Gly82Ala) | ClinVar dbSNP |
| 3 | g.52403286C>T | CA353099295 | BAP1 | c.1742G>A (p.Gly581Asp) c.1688G>A (p.Gly563Asp) n.149G>A c.120-445G>A c.245G>A (p.Gly82Asp) | ClinVar dbSNP COSMIC |
| 3 | g.52403287C>A | CA353099301 | BAP1 | c.1741G>T (p.Gly581Cys) c.1687G>T (p.Gly563Cys) n.148G>T c.120-446G>T c.244G>T (p.Gly82Cys) | ClinVar dbSNP |
| 3 | g.52403287C= | CA1364836014 | BAP1 | c.1741G= (p.Gly581=) c.1687G= (p.Gly563=) n.148G= c.120-446G= c.244G= (p.Gly82=) | |
| 3 | g.52403287C>G | CA353099304 | BAP1 | c.1741G>C (p.Gly581Arg) c.1687G>C (p.Gly563Arg) n.148G>C c.120-446G>C c.244G>C (p.Gly82Arg) | |
| 3 | g.52403287C>T | CA2436723 | BAP1 | c.1741G>A (p.Gly581Ser) c.1687G>A (p.Gly563Ser) n.148G>A c.120-446G>A c.244G>A (p.Gly82Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.52403288C>A | CA353099310 | BAP1 | c.1740G>T (p.Lys580Asn) c.1686G>T (p.Lys562Asn) n.147G>T c.120-447G>T c.243G>T (p.Lys81Asn) | dbSNP |
| 3 | g.52403288C= | CA1364836022 | BAP1 | c.1740G= (p.Lys580=) c.1686G= (p.Lys562=) n.147G= c.120-447G= c.243G= (p.Lys81=) | |
| 3 | g.52403288C>G | CA353099312 | BAP1 | c.1740G>C (p.Lys580Asn) c.1686G>C (p.Lys562Asn) n.147G>C c.120-447G>C c.243G>C (p.Lys81Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403288C>T | CA433886130 | BAP1 | c.1740G>A (p.Lys580=) c.1686G>A (p.Lys562=) n.147G>A c.120-447G>A c.243G>A (p.Lys81=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403289T>A | CA353099324 | BAP1 | c.1739A>T (p.Lys580Met) c.1685A>T (p.Lys562Met) n.146A>T c.120-448A>T c.242A>T (p.Lys81Met) | dbSNP |
| 3 | g.52403289T>C | CA353099321 | BAP1 | c.1739A>G (p.Lys580Arg) c.1685A>G (p.Lys562Arg) n.146A>G c.120-448A>G c.242A>G (p.Lys81Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403289T>G | CA353099317 | BAP1 | c.1739A>C (p.Lys580Thr) c.1685A>C (p.Lys562Thr) n.146A>C c.120-448A>C c.242A>C (p.Lys81Thr) | |
| 3 | g.52403289T= | CA1364836027 | BAP1 | c.1739A= (p.Lys580=) c.1685A= (p.Lys562=) n.146A= c.120-448A= c.242A= (p.Lys81=) | |
| 3 | g.52403290T>A | CA353099328 | BAP1 | c.1738A>T (p.Lys580Ter) c.1684A>T (p.Lys562Ter) n.145A>T c.120-449A>T c.241A>T (p.Lys81Ter) | |
| 3 | g.52403290T>C | CA353099331 | BAP1 | c.1738A>G (p.Lys580Glu) c.1684A>G (p.Lys562Glu) n.145A>G c.120-449A>G c.241A>G (p.Lys81Glu) | |
| 3 | g.52403290T>G | CA353099332 | BAP1 | c.1738A>C (p.Lys580Gln) c.1684A>C (p.Lys562Gln) n.145A>C c.120-449A>C c.241A>C (p.Lys81Gln) | |
| 3 | g.52403291C>A | CA433886140 | BAP1 | c.1737G>T (p.Gly579=) c.1683G>T (p.Gly561=) n.144G>T c.120-450G>T c.240G>T (p.Gly80=) | ClinVar dbSNP |
| 3 | g.52403291C= | CA1364836031 | BAP1 | c.1737G= (p.Gly579=) c.1683G= (p.Gly561=) n.144G= c.120-450G= c.240G= (p.Gly80=) | |
| 3 | g.52403291C>G | CA433886141 | BAP1 | c.1737G>C (p.Gly579=) c.1683G>C (p.Gly561=) n.144G>C c.120-450G>C c.240G>C (p.Gly80=) | dbSNP |
| 3 | g.52403291C>T | CA433886139 | BAP1 | c.1737G>A (p.Gly579=) c.1683G>A (p.Gly561=) n.144G>A c.120-450G>A c.240G>A (p.Gly80=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403292C>A | CA353099333 | BAP1 | c.1736G>T (p.Gly579Val) c.1682G>T (p.Gly561Val) n.143G>T c.120-451G>T c.239G>T (p.Gly80Val) | dbSNP |
| 3 | g.52403292C= | CA1364836037 | BAP1 | c.1736G= (p.Gly579=) c.1682G= (p.Gly561=) n.143G= c.120-451G= c.239G= (p.Gly80=) | |
| 3 | g.52403292C>G | CA353099334 | BAP1 | c.1736G>C (p.Gly579Ala) c.1682G>C (p.Gly561Ala) n.143G>C c.120-451G>C c.239G>C (p.Gly80Ala) | dbSNP |
| 3 | g.52403292C>T | CA2436724 | BAP1 | c.1736G>A (p.Gly579Glu) c.1682G>A (p.Gly561Glu) n.143G>A c.120-451G>A c.239G>A (p.Gly80Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403293C>A | CA353099343 | BAP1 | c.1735G>T (p.Gly579Trp) c.1681G>T (p.Gly561Trp) n.142G>T c.120-452G>T c.238G>T (p.Gly80Trp) | dbSNP |
| 3 | g.52403293C= | CA1364836041 | BAP1 | c.1735G= (p.Gly579=) c.1681G= (p.Gly561=) n.142G= c.120-452G= c.238G= (p.Gly80=) | |
| 3 | g.52403293C>G | CA353099337 | BAP1 | c.1735G>C (p.Gly579Arg) c.1681G>C (p.Gly561Arg) n.142G>C c.120-452G>C c.238G>C (p.Gly80Arg) | dbSNP |
| 3 | g.52403293C>T | CA157259 | BAP1 | c.1735G>A (p.Gly579Arg) c.1681G>A (p.Gly561Arg) n.142G>A c.120-452G>A c.238G>A (p.Gly80Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403294A= | CA1364836049 | BAP1 | c.1734T= (p.Gly578=) c.1680T= (p.Gly560=) n.141T= c.120-453T= c.237T= (p.Gly79=) | |
| 3 | g.52403294A>C | CA2436726 | BAP1 | c.1734T>G (p.Gly578=) c.1680T>G (p.Gly560=) n.141T>G c.120-453T>G c.237T>G (p.Gly79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403294A>G | CA433886150 | BAP1 | c.1734T>C (p.Gly578=) c.1680T>C (p.Gly560=) n.141T>C c.120-453T>C c.237T>C (p.Gly79=) | |
| 3 | g.52403294A>T | CA2436725 | BAP1 | c.1734T>A (p.Gly578=) c.1680T>A (p.Gly560=) n.141T>A c.120-453T>A c.237T>A (p.Gly79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |