Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.52403531C>A | CA433886013 | BAP1 | c.1614G>T (p.Leu538=) c.1560G>T (p.Leu520=) n.21G>T c.119+270G>T c.117G>T (p.Leu39=) | dbSNP |
3 | g.52403531C= | CA1364836552 | BAP1 | c.1614G= (p.Leu538=) c.1560G= (p.Leu520=) n.21G= c.119+270G= c.117G= (p.Leu39=) | |
3 | g.52403531C>G | CA433886016 | BAP1 | c.1614G>C (p.Leu538=) c.1560G>C (p.Leu520=) n.21G>C c.119+270G>C c.117G>C (p.Leu39=) | dbSNP |
3 | g.52403531C>T | CA433886014 | BAP1 | c.1614G>A (p.Leu538=) c.1560G>A (p.Leu520=) n.21G>A c.119+270G>A c.117G>A (p.Leu39=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403532del | CA2739292489 | BAP1 | c.1613del (p.Leu538ArgfsTer?) c.1559del (p.Leu520ArgfsTer?) n.20del c.119+269del c.116del (p.Leu39ArgfsTer?) | |
3 | g.52403532A>C | CA353100297 | BAP1 | c.1613T>G (p.Leu538Arg) c.1559T>G (p.Leu520Arg) n.20T>G c.119+269T>G c.116T>G (p.Leu39Arg) | |
3 | g.52403532A>G | CA353100299 | BAP1 | c.1613T>C (p.Leu538Pro) c.1559T>C (p.Leu520Pro) n.20T>C c.119+269T>C c.116T>C (p.Leu39Pro) | |
3 | g.52403532A>T | CA353100305 | BAP1 | c.1613T>A (p.Leu538Gln) c.1559T>A (p.Leu520Gln) n.20T>A c.119+269T>A c.116T>A (p.Leu39Gln) | dbSNP |
3 | g.52403533G>A | CA433886022 | BAP1 | c.1612C>T (p.Leu538=) c.1558C>T (p.Leu520=) n.19C>T c.119+268C>T c.115C>T (p.Leu39=) | dbSNP |
3 | g.52403533G>C | CA353100306 | BAP1 | c.1612C>G (p.Leu538Val) c.1558C>G (p.Leu520Val) n.19C>G c.119+268C>G c.115C>G (p.Leu39Val) | dbSNP |
3 | g.52403533G>T | CA353100308 | BAP1 | c.1612C>A (p.Leu538Met) c.1558C>A (p.Leu520Met) n.19C>A c.119+268C>A c.115C>A (p.Leu39Met) | |
3 | g.52403534G>A | CA2436770 | BAP1 | c.1611C>T (p.Ser537=) c.1557C>T (p.Ser519=) n.18C>T c.119+267C>T c.114C>T (p.Ser38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403534G>C | CA353100312 | BAP1 | c.1611C>G (p.Ser537Arg) c.1557C>G (p.Ser519Arg) n.18C>G c.119+267C>G c.114C>G (p.Ser38Arg) | dbSNP |
3 | g.52403534G= | CA1364836555 | BAP1 | c.1611C= (p.Ser537=) c.1557C= (p.Ser519=) n.18C= c.119+267C= c.114C= (p.Ser38=) | |
3 | g.52403534G>T | CA353100313 | BAP1 | c.1611C>A (p.Ser537Arg) c.1557C>A (p.Ser519Arg) n.18C>A c.119+267C>A c.114C>A (p.Ser38Arg) | |
3 | g.52403535C>A | CA353100314 | BAP1 | c.1610G>T (p.Ser537Ile) c.1556G>T (p.Ser519Ile) n.17G>T c.119+266G>T c.113G>T (p.Ser38Ile) | dbSNP |
3 | g.52403535C= | CA1364836557 | BAP1 | c.1610G= (p.Ser537=) c.1556G= (p.Ser519=) n.17G= c.119+266G= c.113G= (p.Ser38=) | |
3 | g.52403535C>G | CA353100317 | BAP1 | c.1610G>C (p.Ser537Thr) c.1556G>C (p.Ser519Thr) n.17G>C c.119+266G>C c.113G>C (p.Ser38Thr) | dbSNP |
3 | g.52403535C>T | CA353100318 | BAP1 | c.1610G>A (p.Ser537Asn) c.1556G>A (p.Ser519Asn) n.17G>A c.119+266G>A c.113G>A (p.Ser38Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.52403536T>A | CA353100336 | BAP1 | c.1609A>T (p.Ser537Cys) c.1555A>T (p.Ser519Cys) n.16A>T c.119+265A>T c.112A>T (p.Ser38Cys) | dbSNP |
3 | g.52403536T>C | CA2436771 | BAP1 | c.1609A>G (p.Ser537Gly) c.1555A>G (p.Ser519Gly) n.16A>G c.119+265A>G c.112A>G (p.Ser38Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403536T>G | CA353100351 | BAP1 | c.1609A>C (p.Ser537Arg) c.1555A>C (p.Ser519Arg) n.16A>C c.119+265A>C c.112A>C (p.Ser38Arg) | ClinVar |
3 | g.52403536T= | CA1364836559 | BAP1 | c.1609A= (p.Ser537=) c.1555A= (p.Ser519=) n.16A= c.119+265A= c.112A= (p.Ser38=) | |
3 | g.52403537G>A | CA433886029 | BAP1 | c.1608C>T (p.Asp536=) c.1554C>T (p.Asp518=) n.15C>T c.119+264C>T c.111C>T (p.Asp37=) | dbSNP gnomAD v4 |
3 | g.52403537G>C | CA353100354 | BAP1 | c.1608C>G (p.Asp536Glu) c.1554C>G (p.Asp518Glu) n.15C>G c.119+264C>G c.111C>G (p.Asp37Glu) | dbSNP |
3 | g.52403537G>T | CA353100364 | BAP1 | c.1608C>A (p.Asp536Glu) c.1554C>A (p.Asp518Glu) n.15C>A c.119+264C>A c.111C>A (p.Asp37Glu) | ClinVar |
3 | g.52403538T>A | CA353100369 | BAP1 | c.1607A>T (p.Asp536Val) c.1553A>T (p.Asp518Val) n.14A>T c.119+263A>T c.110A>T (p.Asp37Val) | dbSNP |
3 | g.52403538T>C | CA353100370 | BAP1 | c.1607A>G (p.Asp536Gly) c.1553A>G (p.Asp518Gly) n.14A>G c.119+263A>G c.110A>G (p.Asp37Gly) | |
3 | g.52403538T>G | CA353100371 | BAP1 | c.1607A>C (p.Asp536Ala) c.1553A>C (p.Asp518Ala) n.14A>C c.119+263A>C c.110A>C (p.Asp37Ala) | dbSNP |
3 | g.52403539C>A | CA353100373 | BAP1 | c.1606G>T (p.Asp536Tyr) c.1552G>T (p.Asp518Tyr) n.13G>T c.119+262G>T c.109G>T (p.Asp37Tyr) | dbSNP |
3 | g.52403539C= | CA1364836561 | BAP1 | c.1606G= (p.Asp536=) c.1552G= (p.Asp518=) n.13G= c.119+262G= c.109G= (p.Asp37=) | |
3 | g.52403539C>G | CA353100375 | BAP1 | c.1606G>C (p.Asp536His) c.1552G>C (p.Asp518His) n.13G>C c.119+262G>C c.109G>C (p.Asp37His) | dbSNP |
3 | g.52403539C>T | CA74740656 | BAP1 | c.1606G>A (p.Asp536Asn) c.1552G>A (p.Asp518Asn) n.13G>A c.119+262G>A c.109G>A (p.Asp37Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403540A>C | CA353100376 | BAP1 | c.1605T>G (p.Asp535Glu) c.1551T>G (p.Asp517Glu) n.12T>G c.119+261T>G c.108T>G (p.Asp36Glu) | dbSNP |
3 | g.52403540A>G | CA433886043 | BAP1 | c.1605T>C (p.Asp535=) c.1551T>C (p.Asp517=) n.12T>C c.119+261T>C c.108T>C (p.Asp36=) | ClinVar dbSNP gnomAD v4 |
3 | g.52403540A>T | CA353100378 | BAP1 | c.1605T>A (p.Asp535Glu) c.1551T>A (p.Asp517Glu) n.12T>A c.119+261T>A c.108T>A (p.Asp36Glu) | dbSNP |
3 | g.52403541del | CA433886049 | BAP1 | c.1604del (p.Asp535ValfsTer?) c.1550del (p.Asp517ValfsTer?) n.11del c.119+260del c.107del (p.Asp36ValfsTer?) | COSMIC COSMIC |
3 | g.52403541T>A | CA353100382 | BAP1 | c.1604A>T (p.Asp535Val) c.1550A>T (p.Asp517Val) n.11A>T c.119+260A>T c.107A>T (p.Asp36Val) | dbSNP |
3 | g.52403541T>C | CA353100385 | BAP1 | c.1604A>G (p.Asp535Gly) c.1550A>G (p.Asp517Gly) n.11A>G c.119+260A>G c.107A>G (p.Asp36Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403541T>G | CA353100389 | BAP1 | c.1604A>C (p.Asp535Ala) c.1550A>C (p.Asp517Ala) n.11A>C c.119+260A>C c.107A>C (p.Asp36Ala) | dbSNP |
3 | g.52403541T= | CA1364836564 | BAP1 | c.1604A= (p.Asp535=) c.1550A= (p.Asp517=) n.11A= c.119+260A= c.107A= (p.Asp36=) | |
3 | g.52403542C>A | CA353100394 | BAP1 | c.1603G>T (p.Asp535Tyr) c.1549G>T (p.Asp517Tyr) n.10G>T c.119+259G>T c.106G>T (p.Asp36Tyr) | dbSNP |
3 | g.52403542C>G | CA353100397 | BAP1 | c.1603G>C (p.Asp535His) c.1549G>C (p.Asp517His) n.10G>C c.119+259G>C c.106G>C (p.Asp36His) | dbSNP |
3 | g.52403542C>T | CA353100400 | BAP1 | c.1603G>A (p.Asp535Asn) c.1549G>A (p.Asp517Asn) n.10G>A c.119+259G>A c.106G>A (p.Asp36Asn) | dbSNP |
3 | g.52403543C>A | CA353100402 | BAP1 | c.1602G>T (p.Glu534Asp) c.1548G>T (p.Glu516Asp) n.9G>T c.119+258G>T c.105G>T (p.Glu35Asp) | dbSNP |
3 | g.52403543C= | CA1364836565 | BAP1 | c.1602G= (p.Glu534=) c.1548G= (p.Glu516=) n.9G= c.119+258G= c.105G= (p.Glu35=) | |
3 | g.52403543C>G | CA353100405 | BAP1 | c.1602G>C (p.Glu534Asp) c.1548G>C (p.Glu516Asp) n.9G>C c.119+258G>C c.105G>C (p.Glu35Asp) | |
3 | g.52403543C>T | CA433886057 | BAP1 | c.1602G>A (p.Glu534=) c.1548G>A (p.Glu516=) n.9G>A c.119+258G>A c.105G>A (p.Glu35=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403544T>A | CA353100408 | BAP1 | c.1601A>T (p.Glu534Val) c.1547A>T (p.Glu516Val) n.8A>T c.119+257A>T c.104A>T (p.Glu35Val) | dbSNP |
3 | g.52403544T>C | CA353100411 | BAP1 | c.1601A>G (p.Glu534Gly) c.1547A>G (p.Glu516Gly) n.8A>G c.119+257A>G c.104A>G (p.Glu35Gly) | |
3 | g.52403544T>G | CA353100416 | BAP1 | c.1601A>C (p.Glu534Ala) c.1547A>C (p.Glu516Ala) n.8A>C c.119+257A>C c.104A>C (p.Glu35Ala) | |
3 | g.52403545C>A | CA353100421 | BAP1 | c.1600G>T (p.Glu534Ter) c.1546G>T (p.Glu516Ter) n.7G>T c.119+256G>T c.103G>T (p.Glu35Ter) | dbSNP |
3 | g.52403545C= | CA1364836567 | BAP1 | c.1600G= (p.Glu534=) c.1546G= (p.Glu516=) n.7G= c.119+256G= c.103G= (p.Glu35=) | |
3 | g.52403545C>G | CA353100420 | BAP1 | c.1600G>C (p.Glu534Gln) c.1546G>C (p.Glu516Gln) n.7G>C c.119+256G>C c.103G>C (p.Glu35Gln) | dbSNP |
3 | g.52403545C>T | CA353100419 | BAP1 | c.1600G>A (p.Glu534Lys) c.1546G>A (p.Glu516Lys) n.7G>A c.119+256G>A c.103G>A (p.Glu35Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.52403546T>A | CA433886065 | BAP1 | c.1599A>T (p.Gly533=) c.1545A>T (p.Gly515=) n.6A>T c.119+255A>T c.102A>T (p.Gly34=) | ClinVar |
3 | g.52403546T>C | CA433886069 | BAP1 | c.1599A>G (p.Gly533=) c.1545A>G (p.Gly515=) n.6A>G c.119+255A>G c.102A>G (p.Gly34=) | ClinVar |
3 | g.52403546T>G | CA433886067 | BAP1 | c.1599A>C (p.Gly533=) c.1545A>C (p.Gly515=) n.6A>C c.119+255A>C c.102A>C (p.Gly34=) | |
3 | g.52403547C>A | CA353100424 | BAP1 | c.1598G>T (p.Gly533Val) c.1544G>T (p.Gly515Val) n.5G>T c.119+254G>T c.101G>T (p.Gly34Val) | dbSNP |
3 | g.52403547C>G | CA353100432 | BAP1 | c.1598G>C (p.Gly533Ala) c.1544G>C (p.Gly515Ala) n.5G>C c.119+254G>C c.101G>C (p.Gly34Ala) | dbSNP |
3 | g.52403547C>T | CA353100435 | BAP1 | c.1598G>A (p.Gly533Glu) c.1544G>A (p.Gly515Glu) n.5G>A c.119+254G>A c.101G>A (p.Gly34Glu) | dbSNP |
3 | g.52403548C>A | CA353100439 | BAP1 | c.1597G>T (p.Gly533Ter) c.1543G>T (p.Gly515Ter) n.4G>T c.119+253G>T c.100G>T (p.Gly34Ter) | |
3 | g.52403548C>G | CA353100443 | BAP1 | c.1597G>C (p.Gly533Arg) c.1543G>C (p.Gly515Arg) n.4G>C c.119+253G>C c.100G>C (p.Gly34Arg) | |
3 | g.52403548C>T | CA353100444 | BAP1 | c.1597G>A (p.Gly533Arg) c.1543G>A (p.Gly515Arg) n.4G>A c.119+253G>A c.100G>A (p.Gly34Arg) | |
3 | g.52403549A>C | CA353100446 | BAP1 | c.1596T>G (p.Phe532Leu) c.1542T>G (p.Phe514Leu) n.3T>G c.119+252T>G c.99T>G (p.Phe33Leu) | |
3 | g.52403549A>G | CA433886071 | BAP1 | c.1596T>C (p.Phe532=) c.1542T>C (p.Phe514=) n.3T>C c.119+252T>C c.99T>C (p.Phe33=) | ClinVar |
3 | g.52403549A>T | CA353100448 | BAP1 | c.1596T>A (p.Phe532Leu) c.1542T>A (p.Phe514Leu) n.3T>A c.119+252T>A c.99T>A (p.Phe33Leu) | |
3 | g.52403553del | CA2582342858 | BAP1 | c.1596del (p.Phe532LeufsTer?) c.1542del (p.Phe514LeufsTer?) c.119+252del c.99del (p.Phe33LeufsTer?) | ClinVar |
3 | g.52403550A= | CA1364836569 | BAP1 | c.1595T= (p.Phe532=) c.1541T= (p.Phe514=) n.2T= c.119+251T= c.98T= (p.Phe33=) | |
3 | g.52403550A>C | CA353100450 | BAP1 | c.1595T>G (p.Phe532Cys) c.1541T>G (p.Phe514Cys) n.2T>G c.119+251T>G c.98T>G (p.Phe33Cys) | |
3 | g.52403550A>G | CA353100506 | BAP1 | c.1595T>C (p.Phe532Ser) c.1541T>C (p.Phe514Ser) n.2T>C c.119+251T>C c.98T>C (p.Phe33Ser) | ClinVar dbSNP |
3 | g.52403550A>T | CA353100509 | BAP1 | c.1595T>A (p.Phe532Tyr) c.1541T>A (p.Phe514Tyr) n.2T>A c.119+251T>A c.98T>A (p.Phe33Tyr) | |
3 | g.52403550_52403558delinsAAAAGCACC | CA1364836568 | BAP1 | c.1587_1595delinsGGTGCTTTT (p.Lys529=) c.1533_1541delinsGGTGCTTTT (p.Lys511=) c.119+243_119+251delinsGGTGCTTTT c.90_98delinsGGTGCTTTT (p.Lys30=) | |
3 | g.52403551A>C | CA353100511 | BAP1 | c.1594T>G (p.Phe532Val) c.1540T>G (p.Phe514Val) n.1T>G c.119+250T>G c.97T>G (p.Phe33Val) | |
3 | g.52403551A>G | CA353100513 | BAP1 | c.1594T>C (p.Phe532Leu) c.1540T>C (p.Phe514Leu) n.1T>C c.119+250T>C c.97T>C (p.Phe33Leu) | ClinVar dbSNP |
3 | g.52403551A>T | CA353100516 | BAP1 | c.1594T>A (p.Phe532Ile) c.1540T>A (p.Phe514Ile) n.1T>A c.119+250T>A c.97T>A (p.Phe33Ile) | |
3 | g.52403551_52403558delinsTGTGGGAGGTGTG | CA915942469 | BAP1 | c.1587_1594delinsCACACCTCCCACA (p.Lys529AsnfsTer?) c.1533_1540delinsCACACCTCCCACA (p.Lys511AsnfsTer?) c.119+243_119+250delinsCACACCTCCCACA c.90_97delinsCACACCTCCCACA (p.Lys30AsnfsTer?) | ClinVar dbSNP |
3 | g.52403552A>C | CA433886079 | BAP1 | c.1593T>G (p.Leu531=) c.1539T>G (p.Leu513=) c.119+249T>G c.96T>G (p.Leu32=) | |
3 | g.52403552A>G | CA433886083 | BAP1 | c.1593T>C (p.Leu531=) c.1539T>C (p.Leu513=) c.119+249T>C c.96T>C (p.Leu32=) | ClinVar dbSNP |
3 | g.52403552A>T | CA433886080 | BAP1 | c.1593T>A (p.Leu531=) c.1539T>A (p.Leu513=) c.119+249T>A c.96T>A (p.Leu32=) | |
3 | g.52403553A>C | CA353100521 | BAP1 | c.1592T>G (p.Leu531Arg) c.1538T>G (p.Leu513Arg) c.119+248T>G c.95T>G (p.Leu32Arg) | dbSNP |
3 | g.52403553A>G | CA353100522 | BAP1 | c.1592T>C (p.Leu531Pro) c.1538T>C (p.Leu513Pro) c.119+248T>C c.95T>C (p.Leu32Pro) | dbSNP gnomAD v4 |
3 | g.52403553A>T | CA353100520 | BAP1 | c.1592T>A (p.Leu531His) c.1538T>A (p.Leu513His) c.119+248T>A c.95T>A (p.Leu32His) | dbSNP |
3 | g.52403554G>A | CA74740657 | BAP1 | c.1591C>T (p.Leu531Phe) c.1537C>T (p.Leu513Phe) c.119+247C>T c.94C>T (p.Leu32Phe) | dbSNP gnomAD v4 |
3 | g.52403554G>C | CA353100525 | BAP1 | c.1591C>G (p.Leu531Val) c.1537C>G (p.Leu513Val) c.119+247C>G c.94C>G (p.Leu32Val) | dbSNP |
3 | g.52403554G= | CA1364836572 | BAP1 | c.1591C= (p.Leu531=) c.1537C= (p.Leu513=) c.119+247C= c.94C= (p.Leu32=) | |
3 | g.52403554G>T | CA353100528 | BAP1 | c.1591C>A (p.Leu531Ile) c.1537C>A (p.Leu513Ile) c.119+247C>A c.94C>A (p.Leu32Ile) | |
3 | g.52403555C>A | CA433886092 | BAP1 | c.1590G>T (p.Val530=) c.1536G>T (p.Val512=) c.119+246G>T c.93G>T (p.Val31=) | dbSNP |
3 | g.52403555C>G | CA433886101 | BAP1 | c.1590G>C (p.Val530=) c.1536G>C (p.Val512=) c.119+246G>C c.93G>C (p.Val31=) | ClinVar |
3 | g.52403555C>T | CA433886103 | BAP1 | c.1590G>A (p.Val530=) c.1536G>A (p.Val512=) c.119+246G>A c.93G>A (p.Val31=) | dbSNP gnomAD v4 |
3 | g.52403556A>C | CA353100530 | BAP1 | c.1589T>G (p.Val530Gly) c.1535T>G (p.Val512Gly) c.119+245T>G c.92T>G (p.Val31Gly) | |
3 | g.52403556A>G | CA353100532 | BAP1 | c.1589T>C (p.Val530Ala) c.1535T>C (p.Val512Ala) c.119+245T>C c.92T>C (p.Val31Ala) | dbSNP |
3 | g.52403556A>T | CA353100534 | BAP1 | c.1589T>A (p.Val530Glu) c.1535T>A (p.Val512Glu) c.119+245T>A c.92T>A (p.Val31Glu) | dbSNP |
3 | g.52403557C>A | CA353100537 | BAP1 | c.1588G>T (p.Val530Leu) c.1534G>T (p.Val512Leu) c.119+244G>T c.91G>T (p.Val31Leu) | |
3 | g.52403557C>G | CA353100539 | BAP1 | c.1588G>C (p.Val530Leu) c.1534G>C (p.Val512Leu) c.119+244G>C c.91G>C (p.Val31Leu) | dbSNP |
3 | g.52403557C>T | CA353100541 | BAP1 | c.1588G>A (p.Val530Met) c.1534G>A (p.Val512Met) c.119+244G>A c.91G>A (p.Val31Met) | ClinVar dbSNP gnomAD v4 |
3 | g.52403558del | CA2573052220 | BAP1 | c.1588del (p.Val530CysfsTer?) c.1534del (p.Val512CysfsTer?) c.119+244del c.91del (p.Val31CysfsTer?) | ClinVar dbSNP |
3 | g.52403558C>A | CA353100543 | BAP1 | c.1587G>T (p.Lys529Asn) c.1533G>T (p.Lys511Asn) c.119+243G>T c.90G>T (p.Lys30Asn) | dbSNP |
3 | g.52403558C= | CA1364836574 | BAP1 | c.1587G= (p.Lys529=) c.1533G= (p.Lys511=) c.119+243G= c.90G= (p.Lys30=) | |
3 | g.52403558C>G | CA353100546 | BAP1 | c.1587G>C (p.Lys529Asn) c.1533G>C (p.Lys511Asn) c.119+243G>C c.90G>C (p.Lys30Asn) | ClinVar dbSNP |
3 | g.52403558C>T | CA433886106 | BAP1 | c.1587G>A (p.Lys529=) c.1533G>A (p.Lys511=) c.119+243G>A c.90G>A (p.Lys30=) | |
3 | g.52403559T>A | CA353100548 | BAP1 | c.1586A>T (p.Lys529Met) c.1532A>T (p.Lys511Met) c.119+242A>T c.89A>T (p.Lys30Met) | dbSNP |
3 | g.52403559T>C | CA353100551 | BAP1 | c.1586A>G (p.Lys529Arg) c.1532A>G (p.Lys511Arg) c.119+242A>G c.89A>G (p.Lys30Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403559T>G | CA353100553 | BAP1 | c.1586A>C (p.Lys529Thr) c.1532A>C (p.Lys511Thr) c.119+242A>C c.89A>C (p.Lys30Thr) | |
3 | g.52403559T= | CA1364836576 | BAP1 | c.1586A= (p.Lys529=) c.1532A= (p.Lys511=) c.119+242A= c.89A= (p.Lys30=) | |
3 | g.52403560del | CA2740094457 | BAP1 | c.1586del (p.Lys529ArgfsTer?) c.1532del (p.Lys511ArgfsTer?) c.119+242del c.89del (p.Lys30ArgfsTer?) | ClinVar |
3 | g.52403560T>A | CA353100560 | BAP1 | c.1585A>T (p.Lys529Ter) c.1531A>T (p.Lys511Ter) c.119+241A>T c.88A>T (p.Lys30Ter) | |
3 | g.52403560T>C | CA353100557 | BAP1 | c.1585A>G (p.Lys529Glu) c.1531A>G (p.Lys511Glu) c.119+241A>G c.88A>G (p.Lys30Glu) | |
3 | g.52403560T>G | CA353100555 | BAP1 | c.1585A>C (p.Lys529Gln) c.1531A>C (p.Lys511Gln) c.119+241A>C c.88A>C (p.Lys30Gln) | ClinVar gnomAD v4 |
3 | g.52403560T= | CA1364836579 | BAP1 | c.1585A= (p.Lys529=) c.1531A= (p.Lys511=) c.119+241A= c.88A= (p.Lys30=) | |
3 | g.52403560_52403572delinsTGGAGATGTGGGA | CA1364836580 | BAP1 | c.1573_1585delinsTCCCACATCTCCA (p.Ser525=) c.1519_1531delinsTCCCACATCTCCA (p.Ser507=) c.119+229_119+241delinsTCCCACATCTCCA c.76_88delinsTCCCACATCTCCA (p.Ser26=) | |
3 | g.52403561G>A | CA433886125 | BAP1 | c.1584C>T (p.Ser528=) c.1530C>T (p.Ser510=) c.119+240C>T c.87C>T (p.Ser29=) | dbSNP |
3 | g.52403561G>C | CA433886122 | BAP1 | c.1584C>G (p.Ser528=) c.1530C>G (p.Ser510=) c.119+240C>G c.87C>G (p.Ser29=) | |
3 | g.52403561G>T | CA433886123 | BAP1 | c.1584C>A (p.Ser528=) c.1530C>A (p.Ser510=) c.119+240C>A c.87C>A (p.Ser29=) | |
3 | g.52403562dup | CA1139658114 | BAP1 | c.1584dup (p.Lys529GlnfsTer8) c.1530dup (p.Lys511GlnfsTer8) c.119+240dup c.87dup (p.Lys30GlnfsTer8) | ClinVar dbSNP |
3 | g.52403563_52403574del | CA1364836583 | BAP1 | c.1573_1584del (p.Ser525_Ser528del) c.1519_1530del (p.Ser507_Ser510del) c.119+229_119+240del c.76_87del (p.Ser26_Ser29del) | ClinVar dbSNP |
3 | g.52403562G>A | CA353100563 | BAP1 | c.1583C>T (p.Ser528Phe) c.1529C>T (p.Ser510Phe) c.119+239C>T c.86C>T (p.Ser29Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403562G>C | CA353100564 | BAP1 | c.1583C>G (p.Ser528Cys) c.1529C>G (p.Ser510Cys) c.119+239C>G c.86C>G (p.Ser29Cys) | |
3 | g.52403562G= | CA1364836586 | BAP1 | c.1583C= (p.Ser528=) c.1529C= (p.Ser510=) c.119+239C= c.86C= (p.Ser29=) | |
3 | g.52403562G>T | CA353100567 | BAP1 | c.1583C>A (p.Ser528Tyr) c.1529C>A (p.Ser510Tyr) c.119+239C>A c.86C>A (p.Ser29Tyr) | |
3 | g.52403563A= | CA1364836588 | BAP1 | c.1582T= (p.Ser528=) c.1528T= (p.Ser510=) c.119+238T= c.85T= (p.Ser29=) | |
3 | g.52403563A>C | CA2436772 | BAP1 | c.1582T>G (p.Ser528Ala) c.1528T>G (p.Ser510Ala) c.119+238T>G c.85T>G (p.Ser29Ala) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.52403563A>G | CA353100570 | BAP1 | c.1582T>C (p.Ser528Pro) c.1528T>C (p.Ser510Pro) c.119+238T>C c.85T>C (p.Ser29Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.52403563A>T | CA353100572 | BAP1 | c.1582T>A (p.Ser528Thr) c.1528T>A (p.Ser510Thr) c.119+238T>A c.85T>A (p.Ser29Thr) | |
3 | g.52403564G>A | CA433886134 | BAP1 | c.1581C>T (p.Ile527=) c.1527C>T (p.Ile509=) c.119+237C>T c.84C>T (p.Ile28=) | ClinVar dbSNP |
3 | g.52403564G>C | CA353100574 | BAP1 | c.1581C>G (p.Ile527Met) c.1527C>G (p.Ile509Met) c.119+237C>G c.84C>G (p.Ile28Met) | ClinVar |
3 | g.52403564G= | CA1364836591 | BAP1 | c.1581C= (p.Ile527=) c.1527C= (p.Ile509=) c.119+237C= c.84C= (p.Ile28=) | |
3 | g.52403564G>T | CA433886136 | BAP1 | c.1581C>A (p.Ile527=) c.1527C>A (p.Ile509=) c.119+237C>A c.84C>A (p.Ile28=) | |
3 | g.52403565A>C | CA353100577 | BAP1 | c.1580T>G (p.Ile527Ser) c.1526T>G (p.Ile509Ser) c.119+236T>G c.83T>G (p.Ile28Ser) | |
3 | g.52403565A>G | CA353100580 | BAP1 | c.1580T>C (p.Ile527Thr) c.1526T>C (p.Ile509Thr) c.119+236T>C c.83T>C (p.Ile28Thr) | dbSNP |
3 | g.52403565A>T | CA353100581 | BAP1 | c.1580T>A (p.Ile527Asn) c.1526T>A (p.Ile509Asn) c.119+236T>A c.83T>A (p.Ile28Asn) | |
3 | g.52403565_52403572del | CA645529903 | BAP1 | c.1573_1580del (p.Ser525LeufsTer9) c.1519_1526del (p.Ser507LeufsTer9) c.119+229_119+236del c.76_83del (p.Ser26LeufsTer9) | COSMIC |
3 | g.52403566T>A | CA353100584 | BAP1 | c.1579A>T (p.Ile527Phe) c.1525A>T (p.Ile509Phe) c.119+235A>T c.82A>T (p.Ile28Phe) | |
3 | g.52403566T>C | CA353100586 | BAP1 | c.1579A>G (p.Ile527Val) c.1525A>G (p.Ile509Val) c.119+235A>G c.82A>G (p.Ile28Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403566T>G | CA353100589 | BAP1 | c.1579A>C (p.Ile527Leu) c.1525A>C (p.Ile509Leu) c.119+235A>C c.82A>C (p.Ile28Leu) | |
3 | g.52403566T= | CA1364836592 | BAP1 | c.1579A= (p.Ile527=) c.1525A= (p.Ile509=) c.119+235A= c.82A= (p.Ile28=) | |
3 | g.52403567G>A | CA433886137 | BAP1 | c.1578C>T (p.His526=) c.1524C>T (p.His508=) c.119+234C>T c.81C>T (p.His27=) | ClinVar dbSNP |
3 | g.52403567G>C | CA353100593 | BAP1 | c.1578C>G (p.His526Gln) c.1524C>G (p.His508Gln) c.119+234C>G c.81C>G (p.His27Gln) | |
3 | g.52403567G= | CA1364836594 | BAP1 | c.1578C= (p.His526=) c.1524C= (p.His508=) c.119+234C= c.81C= (p.His27=) | |
3 | g.52403567G>T | CA353100591 | BAP1 | c.1578C>A (p.His526Gln) c.1524C>A (p.His508Gln) c.119+234C>A c.81C>A (p.His27Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403568T>A | CA353100599 | BAP1 | c.1577A>T (p.His526Leu) c.1523A>T (p.His508Leu) c.119+233A>T c.80A>T (p.His27Leu) | |
3 | g.52403568T>C | CA353100601 | BAP1 | c.1577A>G (p.His526Arg) c.1523A>G (p.His508Arg) c.119+233A>G c.80A>G (p.His27Arg) | ClinVar |
3 | g.52403568T>G | CA353100603 | BAP1 | c.1577A>C (p.His526Pro) c.1523A>C (p.His508Pro) c.119+233A>C c.80A>C (p.His27Pro) | |
3 | g.52403569G>A | CA353100605 | BAP1 | c.1576C>T (p.His526Tyr) c.1522C>T (p.His508Tyr) c.119+232C>T c.79C>T (p.His27Tyr) | ClinVar dbSNP |
3 | g.52403569G>C | CA353100606 | BAP1 | c.1576C>G (p.His526Asp) c.1522C>G (p.His508Asp) c.119+232C>G c.79C>G (p.His27Asp) | |
3 | g.52403569G= | CA1364836596 | BAP1 | c.1576C= (p.His526=) c.1522C= (p.His508=) c.119+232C= c.79C= (p.His27=) | |
3 | g.52403569G>T | CA353100608 | BAP1 | c.1576C>A (p.His526Asn) c.1522C>A (p.His508Asn) c.119+232C>A c.79C>A (p.His27Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403570G>A | CA433886145 | BAP1 | c.1575C>T (p.Ser525=) c.1521C>T (p.Ser507=) c.119+231C>T c.78C>T (p.Ser26=) | ClinVar dbSNP |
3 | g.52403570G>C | CA433886146 | BAP1 | c.1575C>G (p.Ser525=) c.1521C>G (p.Ser507=) c.119+231C>G c.78C>G (p.Ser26=) | ClinVar dbSNP |
3 | g.52403570G>T | CA433886147 | BAP1 | c.1575C>A (p.Ser525=) c.1521C>A (p.Ser507=) c.119+231C>A c.78C>A (p.Ser26=) | |
3 | g.52403571G>A | CA353100615 | BAP1 | c.1574C>T (p.Ser525Phe) c.1520C>T (p.Ser507Phe) c.119+230C>T c.77C>T (p.Ser26Phe) | dbSNP |
3 | g.52403571G>C | CA353100614 | BAP1 | c.1574C>G (p.Ser525Cys) c.1520C>G (p.Ser507Cys) c.119+230C>G c.77C>G (p.Ser26Cys) | COSMIC |
3 | g.52403571G= | CA1364836598 | BAP1 | c.1574C= (p.Ser525=) c.1520C= (p.Ser507=) c.119+230C= c.77C= (p.Ser26=) | |
3 | g.52403571G>T | CA353100611 | BAP1 | c.1574C>A (p.Ser525Tyr) c.1520C>A (p.Ser507Tyr) c.119+230C>A c.77C>A (p.Ser26Tyr) | |
3 | g.52403572A>C | CA353100618 | BAP1 | c.1573T>G (p.Ser525Ala) c.1519T>G (p.Ser507Ala) c.119+229T>G c.76T>G (p.Ser26Ala) | |
3 | g.52403572A>G | CA353100621 | BAP1 | c.1573T>C (p.Ser525Pro) c.1519T>C (p.Ser507Pro) c.119+229T>C c.76T>C (p.Ser26Pro) | |
3 | g.52403572A>T | CA353100623 | BAP1 | c.1573T>A (p.Ser525Thr) c.1519T>A (p.Ser507Thr) c.119+229T>A c.76T>A (p.Ser26Thr) | dbSNP |
3 | g.52403573G>A | CA433886156 | BAP1 | c.1572C>T (p.Thr524=) c.1518C>T (p.Thr506=) c.119+228C>T c.75C>T (p.Thr25=) | ClinVar dbSNP |
3 | g.52403573G>C | CA433886157 | BAP1 | c.1572C>G (p.Thr524=) c.1518C>G (p.Thr506=) c.119+228C>G c.75C>G (p.Thr25=) | |
3 | g.52403573G= | CA1364836599 | BAP1 | c.1572C= (p.Thr524=) c.1518C= (p.Thr506=) c.119+228C= c.75C= (p.Thr25=) | |
3 | g.52403573G>T | CA433886158 | BAP1 | c.1572C>A (p.Thr524=) c.1518C>A (p.Thr506=) c.119+228C>A c.75C>A (p.Thr25=) | |
3 | g.52403573_52403574delinsAA | CA645529904 | BAP1 | c.1571_1572delinsTT (p.Thr524Ile) c.1517_1518delinsTT (p.Thr506Ile) c.119+227_119+228delinsTT c.74_75delinsTT (p.Thr25Ile) | COSMIC |
3 | g.52403574G>A | CA353100626 | BAP1 | c.1571C>T (p.Thr524Ile) c.1517C>T (p.Thr506Ile) c.119+227C>T c.74C>T (p.Thr25Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.52403574G>C | CA353100627 | BAP1 | c.1571C>G (p.Thr524Ser) c.1517C>G (p.Thr506Ser) c.119+227C>G c.74C>G (p.Thr25Ser) | |
3 | g.52403574G= | CA1364836601 | BAP1 | c.1571C= (p.Thr524=) c.1517C= (p.Thr506=) c.119+227C= c.74C= (p.Thr25=) | |
3 | g.52403574G>T | CA353100628 | BAP1 | c.1571C>A (p.Thr524Asn) c.1517C>A (p.Thr506Asn) c.119+227C>A c.74C>A (p.Thr25Asn) | ClinVar dbSNP |
3 | g.52403575T>A | CA353100631 | BAP1 | c.1570A>T (p.Thr524Ser) c.1516A>T (p.Thr506Ser) c.119+226A>T c.73A>T (p.Thr25Ser) | dbSNP |
3 | g.52403575T>C | CA353100635 | BAP1 | c.1570A>G (p.Thr524Ala) c.1516A>G (p.Thr506Ala) c.119+226A>G c.73A>G (p.Thr25Ala) | ClinVar |
3 | g.52403575T>G | CA353100632 | BAP1 | c.1570A>C (p.Thr524Pro) c.1516A>C (p.Thr506Pro) c.119+226A>C c.73A>C (p.Thr25Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403575T= | CA1364836605 | BAP1 | c.1570A= (p.Thr524=) c.1516A= (p.Thr506=) c.119+226A= c.73A= (p.Thr25=) | |
3 | g.52403576G>A | CA433886164 | BAP1 | c.1569C>T (p.Val523=) c.1515C>T (p.Val505=) c.119+225C>T c.72C>T (p.Val24=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.52403576G>C | CA433886165 | BAP1 | c.1569C>G (p.Val523=) c.1515C>G (p.Val505=) c.119+225C>G c.72C>G (p.Val24=) | |
3 | g.52403576G>T | CA433886166 | BAP1 | c.1569C>A (p.Val523=) c.1515C>A (p.Val505=) c.119+225C>A c.72C>A (p.Val24=) | ClinVar |
3 | g.52403577A>C | CA353100638 | BAP1 | c.1568T>G (p.Val523Gly) c.1514T>G (p.Val505Gly) c.119+224T>G c.71T>G (p.Val24Gly) | |
3 | g.52403577A>G | CA353100639 | BAP1 | c.1568T>C (p.Val523Ala) c.1514T>C (p.Val505Ala) c.119+224T>C c.71T>C (p.Val24Ala) | |
3 | g.52403577A>T | CA353100642 | BAP1 | c.1568T>A (p.Val523Asp) c.1514T>A (p.Val505Asp) c.119+224T>A c.71T>A (p.Val24Asp) | |
3 | g.52403578C>A | CA353100645 | BAP1 | c.1567G>T (p.Val523Phe) c.1513G>T (p.Val505Phe) c.119+223G>T c.70G>T (p.Val24Phe) | |
3 | g.52403578C>G | CA353100647 | BAP1 | c.1567G>C (p.Val523Leu) c.1513G>C (p.Val505Leu) c.119+223G>C c.70G>C (p.Val24Leu) | dbSNP |
3 | g.52403578C>T | CA353100650 | BAP1 | c.1567G>A (p.Val523Ile) c.1513G>A (p.Val505Ile) c.119+223G>A c.70G>A (p.Val24Ile) | ClinVar dbSNP |
3 | g.52403578_52403580delinsCAG | CA1364836607 | BAP1 | c.1565_1567delinsCTG (p.Pro522=) c.1511_1513delinsCTG (p.Pro504=) c.119+221_119+223delinsCTG c.68_70delinsCTG (p.Pro23=) | |
3 | g.52403579del | CA645529905 | BAP1 | c.1566del (p.Val523SerfsTer?) c.1512del (p.Val505SerfsTer?) c.119+222del c.69del (p.Val24SerfsTer?) | COSMIC |
3 | g.52403579A>C | CA433886169 | BAP1 | c.1566T>G (p.Pro522=) c.1512T>G (p.Pro504=) c.119+222T>G c.69T>G (p.Pro23=) | |
3 | g.52403579A>G | CA433886171 | BAP1 | c.1566T>C (p.Pro522=) c.1512T>C (p.Pro504=) c.119+222T>C c.69T>C (p.Pro23=) | ClinVar dbSNP gnomAD v4 |
3 | g.52403579A>T | CA433886172 | BAP1 | c.1566T>A (p.Pro522=) c.1512T>A (p.Pro504=) c.119+222T>A c.69T>A (p.Pro23=) | |
3 | g.52403579_52403580del | CA1139658115 | BAP1 | c.1565_1566del (p.Pro522ArgfsTer14) c.1511_1512del (p.Pro504ArgfsTer14) c.119+221_119+222del c.68_69del (p.Pro23ArgfsTer14) | ClinVar dbSNP |
3 | g.52403580G>A | CA353100652 | BAP1 | c.1565C>T (p.Pro522Leu) c.1511C>T (p.Pro504Leu) c.119+221C>T c.68C>T (p.Pro23Leu) | ClinVar |
3 | g.52403580G>C | CA353100653 | BAP1 | c.1565C>G (p.Pro522Arg) c.1511C>G (p.Pro504Arg) c.119+221C>G c.68C>G (p.Pro23Arg) | ClinVar dbSNP |
3 | g.52403580G= | CA1364836610 | BAP1 | c.1565C= (p.Pro522=) c.1511C= (p.Pro504=) c.119+221C= c.68C= (p.Pro23=) | |
3 | g.52403580G>T | CA353100655 | BAP1 | c.1565C>A (p.Pro522His) c.1511C>A (p.Pro504His) c.119+221C>A c.68C>A (p.Pro23His) | |
3 | g.52403581G>A | CA353100657 | BAP1 | c.1564C>T (p.Pro522Ser) c.1510C>T (p.Pro504Ser) c.119+220C>T c.67C>T (p.Pro23Ser) | |
3 | g.52403581G>C | CA353100660 | BAP1 | c.1564C>G (p.Pro522Ala) c.1510C>G (p.Pro504Ala) c.119+220C>G c.67C>G (p.Pro23Ala) | ClinVar |
3 | g.52403581G>T | CA353100661 | BAP1 | c.1564C>A (p.Pro522Thr) c.1510C>A (p.Pro504Thr) c.119+220C>A c.67C>A (p.Pro23Thr) | COSMIC |
3 | g.52403582G>A | CA433886180 | BAP1 | c.1563C>T (p.Ser521=) c.1509C>T (p.Ser503=) c.119+219C>T c.66C>T (p.Ser22=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403582G>C | CA353100664 | BAP1 | c.1563C>G (p.Ser521Arg) c.1509C>G (p.Ser503Arg) c.119+219C>G c.66C>G (p.Ser22Arg) | |
3 | g.52403582G= | CA1364836612 | BAP1 | c.1563C= (p.Ser521=) c.1509C= (p.Ser503=) c.119+219C= c.66C= (p.Ser22=) | |
3 | g.52403582G>T | CA353100667 | BAP1 | c.1563C>A (p.Ser521Arg) c.1509C>A (p.Ser503Arg) c.119+219C>A c.66C>A (p.Ser22Arg) | |
3 | g.52403583C>A | CA353100669 | BAP1 | c.1562G>T (p.Ser521Ile) c.1508G>T (p.Ser503Ile) c.119+218G>T c.65G>T (p.Ser22Ile) | dbSNP |
3 | g.52403583C>G | CA353100670 | BAP1 | c.1562G>C (p.Ser521Thr) c.1508G>C (p.Ser503Thr) c.119+218G>C c.65G>C (p.Ser22Thr) | dbSNP |
3 | g.52403583C>T | CA353100673 | BAP1 | c.1562G>A (p.Ser521Asn) c.1508G>A (p.Ser503Asn) c.119+218G>A c.65G>A (p.Ser22Asn) | dbSNP |
3 | g.52403584T>A | CA353100676 | BAP1 | c.1561A>T (p.Ser521Cys) c.1507A>T (p.Ser503Cys) c.119+217A>T c.64A>T (p.Ser22Cys) | dbSNP |
3 | g.52403584T>C | CA353100678 | BAP1 | c.1561A>G (p.Ser521Gly) c.1507A>G (p.Ser503Gly) c.119+217A>G c.64A>G (p.Ser22Gly) | dbSNP |
3 | g.52403584T>G | CA353100679 | BAP1 | c.1561A>C (p.Ser521Arg) c.1507A>C (p.Ser503Arg) c.119+217A>C c.64A>C (p.Ser22Arg) | |
3 | g.52403584T= | CA1364836613 | BAP1 | c.1561A= (p.Ser521=) c.1507A= (p.Ser503=) c.119+217A= c.64A= (p.Ser22=) | |
3 | g.52403585G>A | CA433886184 | BAP1 | c.1560C>T (p.Ser520=) c.1506C>T (p.Ser502=) c.119+216C>T c.63C>T (p.Ser21=) | ClinVar dbSNP |
3 | g.52403585G>C | CA433886185 | BAP1 | c.1560C>G (p.Ser520=) c.1506C>G (p.Ser502=) c.119+216C>G c.63C>G (p.Ser21=) | |
3 | g.52403585G= | CA1364836615 | BAP1 | c.1560C= (p.Ser520=) c.1506C= (p.Ser502=) c.119+216C= c.63C= (p.Ser21=) | |
3 | g.52403585G>T | CA433886186 | BAP1 | c.1560C>A (p.Ser520=) c.1506C>A (p.Ser502=) c.119+216C>A c.63C>A (p.Ser21=) | ClinVar |
3 | g.52403586G>A | CA353100686 | BAP1 | c.1559C>T (p.Ser520Phe) c.1505C>T (p.Ser502Phe) c.119+215C>T c.62C>T (p.Ser21Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.52403586G>C | CA353100685 | BAP1 | c.1559C>G (p.Ser520Cys) c.1505C>G (p.Ser502Cys) c.119+215C>G c.62C>G (p.Ser21Cys) | |
3 | g.52403586G= | CA1364836618 | BAP1 | c.1559C= (p.Ser520=) c.1505C= (p.Ser502=) c.119+215C= c.62C= (p.Ser21=) | |
3 | g.52403586G>T | CA353100682 | BAP1 | c.1559C>A (p.Ser520Tyr) c.1505C>A (p.Ser502Tyr) c.119+215C>A c.62C>A (p.Ser21Tyr) | |
3 | g.52403587_52403593del | CA645529906 | BAP1 | c.1553_1559del (p.Arg518ProfsTer?) c.1499_1505del (p.Arg500ProfsTer?) c.119+209_119+215del c.56_62del (p.Arg19ProfsTer?) | COSMIC |
3 | g.52403587A>C | CA353100687 | BAP1 | c.1558T>G (p.Ser520Ala) c.1504T>G (p.Ser502Ala) c.119+214T>G c.61T>G (p.Ser21Ala) | ClinVar |
3 | g.52403587A>G | CA353100688 | BAP1 | c.1558T>C (p.Ser520Pro) c.1504T>C (p.Ser502Pro) c.119+214T>C c.61T>C (p.Ser21Pro) | ClinVar dbSNP |
3 | g.52403587A>T | CA353100689 | BAP1 | c.1558T>A (p.Ser520Thr) c.1504T>A (p.Ser502Thr) c.119+214T>A c.61T>A (p.Ser21Thr) | dbSNP gnomAD v4 |
3 | g.52403588G>A | CA433886034 | BAP1 | c.1557C>T (p.Pro519=) c.1503C>T (p.Pro501=) c.119+213C>T c.60C>T (p.Pro20=) | ClinVar dbSNP |
3 | g.52403588G>C | CA433886040 | BAP1 | c.1557C>G (p.Pro519=) c.1503C>G (p.Pro501=) c.119+213C>G c.60C>G (p.Pro20=) | |
3 | g.52403588G>T | CA433886036 | BAP1 | c.1557C>A (p.Pro519=) c.1503C>A (p.Pro501=) c.119+213C>A c.60C>A (p.Pro20=) | |
3 | g.52403590del | CA645529907 | BAP1 | c.1557del (p.Ser520ProfsTer?) c.1503del (p.Ser502ProfsTer?) c.119+213del c.60del (p.Ser21ProfsTer?) | COSMIC |
3 | g.52403589G>A | CA2436773 | BAP1 | c.1556C>T (p.Pro519Leu) c.1502C>T (p.Pro501Leu) c.119+212C>T c.59C>T (p.Pro20Leu) | dbSNP ExAC gnomAD v2 |
3 | g.52403589G>C | CA353100694 | BAP1 | c.1556C>G (p.Pro519Arg) c.1502C>G (p.Pro501Arg) c.119+212C>G c.59C>G (p.Pro20Arg) | |
3 | g.52403589G= | CA1364836620 | BAP1 | c.1556C= (p.Pro519=) c.1502C= (p.Pro501=) c.119+212C= c.59C= (p.Pro20=) | |
3 | g.52403589G>T | CA353100696 | BAP1 | c.1556C>A (p.Pro519His) c.1502C>A (p.Pro501His) c.119+212C>A c.59C>A (p.Pro20His) | |
3 | g.52403590G>A | CA353100703 | BAP1 | c.1555C>T (p.Pro519Ser) c.1501C>T (p.Pro501Ser) c.119+211C>T c.58C>T (p.Pro20Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403590G>C | CA2436774 | BAP1 | c.1555C>G (p.Pro519Ala) c.1501C>G (p.Pro501Ala) c.119+211C>G c.58C>G (p.Pro20Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403590G= | CA1364836623 | BAP1 | c.1555C= (p.Pro519=) c.1501C= (p.Pro501=) c.119+211C= c.58C= (p.Pro20=) | |
3 | g.52403590G>T | CA353100699 | BAP1 | c.1555C>A (p.Pro519Thr) c.1501C>A (p.Pro501Thr) c.119+211C>A c.58C>A (p.Pro20Thr) | |
3 | g.52403591C>A | CA433886045 | BAP1 | c.1554G>T (p.Arg518=) c.1500G>T (p.Arg500=) c.119+210G>T c.57G>T (p.Arg19=) | ClinVar dbSNP |
3 | g.52403591C= | CA1364836626 | BAP1 | c.1554G= (p.Arg518=) c.1500G= (p.Arg500=) c.119+210G= c.57G= (p.Arg19=) | |
3 | g.52403591C>G | CA433886046 | BAP1 | c.1554G>C (p.Arg518=) c.1500G>C (p.Arg500=) c.119+210G>C c.57G>C (p.Arg19=) | ClinVar dbSNP |
3 | g.52403591C>T | CA433886047 | BAP1 | c.1554G>A (p.Arg518=) c.1500G>A (p.Arg500=) c.119+210G>A c.57G>A (p.Arg19=) | dbSNP gnomAD v4 |
3 | g.52403592C>A | CA353100705 | BAP1 | c.1553G>T (p.Arg518Leu) c.1499G>T (p.Arg500Leu) c.119+209G>T c.56G>T (p.Arg19Leu) | dbSNP |
3 | g.52403592C= | CA1364836629 | BAP1 | c.1553G= (p.Arg518=) c.1499G= (p.Arg500=) c.119+209G= c.56G= (p.Arg19=) | |
3 | g.52403592C>G | CA353100706 | BAP1 | c.1553G>C (p.Arg518Pro) c.1499G>C (p.Arg500Pro) c.119+209G>C c.56G>C (p.Arg19Pro) | |
3 | g.52403592C>T | CA2436775 | BAP1 | c.1553G>A (p.Arg518Gln) c.1499G>A (p.Arg500Gln) c.119+209G>A c.56G>A (p.Arg19Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403593G>A | CA2436776 | BAP1 | c.1552C>T (p.Arg518Trp) c.1498C>T (p.Arg500Trp) c.119+208C>T c.55C>T (p.Arg19Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.52403593G>C | CA353100711 | BAP1 | c.1552C>G (p.Arg518Gly) c.1498C>G (p.Arg500Gly) c.119+208C>G c.55C>G (p.Arg19Gly) | gnomAD v4 |
3 | g.52403593G= | CA1364836635 | BAP1 | c.1552C= (p.Arg518=) c.1498C= (p.Arg500=) c.119+208C= c.55C= (p.Arg19=) | |
3 | g.52403593G>T | CA433886051 | BAP1 | c.1552C>A (p.Arg518=) c.1498C>A (p.Arg500=) c.119+208C>A c.55C>A (p.Arg19=) | |
3 | g.52403593_52403594insGG | CA645529908 | BAP1 | c.1552_1553insCC (p.Arg518ProfsTer?) c.1498_1499insCC (p.Arg500ProfsTer?) c.119+208_119+209insCC c.55_56insCC (p.Arg19ProfsTer?) | COSMIC |
3 | g.52403594C>A | CA433886053 | BAP1 | c.1551G>T (p.Thr517=) c.1497G>T (p.Thr499=) c.119+207G>T c.54G>T (p.Thr18=) | |
3 | g.52403594C= | CA1364836639 | BAP1 | c.1551G= (p.Thr517=) c.1497G= (p.Thr499=) c.119+207G= c.54G= (p.Thr18=) | |
3 | g.52403594C>G | CA433886055 | BAP1 | c.1551G>C (p.Thr517=) c.1497G>C (p.Thr499=) c.119+207G>C c.54G>C (p.Thr18=) | |
3 | g.52403594C>T | CA2436777 | BAP1 | c.1551G>A (p.Thr517=) c.1497G>A (p.Thr499=) c.119+207G>A c.54G>A (p.Thr18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403595G>A | CA2436778 | BAP1 | c.1550C>T (p.Thr517Met) c.1496C>T (p.Thr499Met) c.119+206C>T c.53C>T (p.Thr18Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.52403595G>C | CA353100717 | BAP1 | c.1550C>G (p.Thr517Arg) c.1496C>G (p.Thr499Arg) c.119+206C>G c.53C>G (p.Thr18Arg) | |
3 | g.52403595G= | CA1364836647 | BAP1 | c.1550C= (p.Thr517=) c.1496C= (p.Thr499=) c.119+206C= c.53C= (p.Thr18=) | |
3 | g.52403595G>T | CA16611334 | BAP1 | c.1550C>A (p.Thr517Lys) c.1496C>A (p.Thr499Lys) c.119+206C>A c.53C>A (p.Thr18Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.52403596T>A | CA353100722 | BAP1 | c.1549A>T (p.Thr517Ser) c.1495A>T (p.Thr499Ser) c.119+205A>T c.52A>T (p.Thr18Ser) | |
3 | g.52403596T>C | CA353100723 | BAP1 | c.1549A>G (p.Thr517Ala) c.1495A>G (p.Thr499Ala) c.119+205A>G c.52A>G (p.Thr18Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.52403596T>G | CA353100726 | BAP1 | c.1549A>C (p.Thr517Pro) c.1495A>C (p.Thr499Pro) c.119+205A>C c.52A>C (p.Thr18Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403596T= | CA1364836653 | BAP1 | c.1549A= (p.Thr517=) c.1495A= (p.Thr499=) c.119+205A= c.52A= (p.Thr18=) | |
3 | g.52403597C>A | CA433886063 | BAP1 | c.1548G>T (p.Pro516=) c.1494G>T (p.Pro498=) c.119+204G>T c.51G>T (p.Pro17=) | ClinVar dbSNP |
3 | g.52403597C= | CA1364836657 | BAP1 | c.1548G= (p.Pro516=) c.1494G= (p.Pro498=) c.119+204G= c.51G= (p.Pro17=) | |
3 | g.52403597C>G | CA433886066 | BAP1 | c.1548G>C (p.Pro516=) c.1494G>C (p.Pro498=) c.119+204G>C c.51G>C (p.Pro17=) | dbSNP |
3 | g.52403597C>T | CA2436779 | BAP1 | c.1548G>A (p.Pro516=) c.1494G>A (p.Pro498=) c.119+204G>A c.51G>A (p.Pro17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403598G>A | CA2436780 | BAP1 | c.1547C>T (p.Pro516Leu) c.1493C>T (p.Pro498Leu) c.119+203C>T c.50C>T (p.Pro17Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.52403598G>C | CA353100735 | BAP1 | c.1547C>G (p.Pro516Arg) c.1493C>G (p.Pro498Arg) c.119+203C>G c.50C>G (p.Pro17Arg) | |
3 | g.52403598G= | CA1364836664 | BAP1 | c.1547C= (p.Pro516=) c.1493C= (p.Pro498=) c.119+203C= c.50C= (p.Pro17=) | |
3 | g.52403598G>T | CA353100733 | BAP1 | c.1547C>A (p.Pro516Gln) c.1493C>A (p.Pro498Gln) c.119+203C>A c.50C>A (p.Pro17Gln) | |
3 | g.52403599G>A | CA353100739 | BAP1 | c.1546C>T (p.Pro516Ser) c.1492C>T (p.Pro498Ser) c.119+202C>T c.49C>T (p.Pro17Ser) | ClinVar dbSNP |
3 | g.52403599G>C | CA353100740 | BAP1 | c.1546C>G (p.Pro516Ala) c.1492C>G (p.Pro498Ala) c.119+202C>G c.49C>G (p.Pro17Ala) | |
3 | g.52403599G>T | CA353100743 | BAP1 | c.1546C>A (p.Pro516Thr) c.1492C>A (p.Pro498Thr) c.119+202C>A c.49C>A (p.Pro17Thr) | dbSNP |
3 | g.52403600G>A | CA433886078 | BAP1 | c.1545C>T (p.Asn515=) c.1491C>T (p.Asn497=) c.119+201C>T c.48C>T (p.Asn16=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403600G>C | CA353100747 | BAP1 | c.1545C>G (p.Asn515Lys) c.1491C>G (p.Asn497Lys) c.119+201C>G c.48C>G (p.Asn16Lys) | |
3 | g.52403600G= | CA1364836668 | BAP1 | c.1545C= (p.Asn515=) c.1491C= (p.Asn497=) c.119+201C= c.48C= (p.Asn16=) | |
3 | g.52403600G>T | CA353100748 | BAP1 | c.1545C>A (p.Asn515Lys) c.1491C>A (p.Asn497Lys) c.119+201C>A c.48C>A (p.Asn16Lys) | |
3 | g.52403601T>A | CA353100757 | BAP1 | c.1544A>T (p.Asn515Ile) c.1490A>T (p.Asn497Ile) c.119+200A>T c.47A>T (p.Asn16Ile) | dbSNP |
3 | g.52403601T>C | CA353100754 | BAP1 | c.1544A>G (p.Asn515Ser) c.1490A>G (p.Asn497Ser) c.119+200A>G c.47A>G (p.Asn16Ser) | ClinVar dbSNP |
3 | g.52403601T>G | CA353100751 | BAP1 | c.1544A>C (p.Asn515Thr) c.1490A>C (p.Asn497Thr) c.119+200A>C c.47A>C (p.Asn16Thr) | ClinVar gnomAD v4 |
3 | g.52403602del | CA2573137325 | BAP1 | c.1544del (p.Asn515ThrfsTer?) c.1490del (p.Asn497ThrfsTer?) c.119+200del c.47del (p.Asn16ThrfsTer?) | ClinVar dbSNP |
3 | g.52403602T>A | CA353100760 | BAP1 | c.1543A>T (p.Asn515Tyr) c.1489A>T (p.Asn497Tyr) c.119+199A>T c.46A>T (p.Asn16Tyr) | |
3 | g.52403602T>C | CA353100763 | BAP1 | c.1543A>G (p.Asn515Asp) c.1489A>G (p.Asn497Asp) c.119+199A>G c.46A>G (p.Asn16Asp) | |
3 | g.52403602T>G | CA2436781 | BAP1 | c.1543A>C (p.Asn515His) c.1489A>C (p.Asn497His) c.119+199A>C c.46A>C (p.Asn16His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403602T= | CA1364836671 | BAP1 | c.1543A= (p.Asn515=) c.1489A= (p.Asn497=) c.119+199A= c.46A= (p.Asn16=) | |
3 | g.52403603G>A | CA433886086 | BAP1 | c.1542C>T (p.Ala514=) c.1488C>T (p.Ala496=) c.119+198C>T c.45C>T (p.Ala15=) | ClinVar dbSNP gnomAD v4 |
3 | g.52403603G>C | CA433886087 | BAP1 | c.1542C>G (p.Ala514=) c.1488C>G (p.Ala496=) c.119+198C>G c.45C>G (p.Ala15=) | ClinVar dbSNP |
3 | g.52403603G= | CA1364836676 | BAP1 | c.1542C= (p.Ala514=) c.1488C= (p.Ala496=) c.119+198C= c.45C= (p.Ala15=) | |
3 | g.52403603G>T | CA433886088 | BAP1 | c.1542C>A (p.Ala514=) c.1488C>A (p.Ala496=) c.119+198C>A c.45C>A (p.Ala15=) | |
3 | g.52403604del | CA645529909 | BAP1 | c.1542del (p.Asn515ThrfsTer?) c.1488del (p.Asn497ThrfsTer?) c.119+198del c.45del (p.Asn16ThrfsTer?) | COSMIC |
3 | g.52403604G>A | CA353100765 | BAP1 | c.1541C>T (p.Ala514Val) c.1487C>T (p.Ala496Val) c.119+197C>T c.44C>T (p.Ala15Val) | dbSNP |
3 | g.52403604G>C | CA353100766 | BAP1 | c.1541C>G (p.Ala514Gly) c.1487C>G (p.Ala496Gly) c.119+197C>G c.44C>G (p.Ala15Gly) | ClinVar |
3 | g.52403604G>T | CA353100767 | BAP1 | c.1541C>A (p.Ala514Asp) c.1487C>A (p.Ala496Asp) c.119+197C>A c.44C>A (p.Ala15Asp) | |
3 | g.52403605C>A | CA353100768 | BAP1 | c.1540G>T (p.Ala514Ser) c.1486G>T (p.Ala496Ser) c.119+196G>T c.43G>T (p.Ala15Ser) | ClinVar |
3 | g.52403605C>G | CA353100770 | BAP1 | c.1540G>C (p.Ala514Pro) c.1486G>C (p.Ala496Pro) c.119+196G>C c.43G>C (p.Ala15Pro) | dbSNP |
3 | g.52403605C>T | CA353100769 | BAP1 | c.1540G>A (p.Ala514Thr) c.1486G>A (p.Ala496Thr) c.119+196G>A c.43G>A (p.Ala15Thr) | dbSNP |
3 | g.52403606T>A | CA433886105 | BAP1 | c.1539A>T (p.Ser513=) c.1485A>T (p.Ser495=) c.119+195A>T c.42A>T (p.Ser14=) | |
3 | g.52403606T>C | CA433886110 | BAP1 | c.1539A>G (p.Ser513=) c.1485A>G (p.Ser495=) c.119+195A>G c.42A>G (p.Ser14=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403606T>G | CA433886112 | BAP1 | c.1539A>C (p.Ser513=) c.1485A>C (p.Ser495=) c.119+195A>C c.42A>C (p.Ser14=) | |
3 | g.52403606T= | CA1364836679 | BAP1 | c.1539A= (p.Ser513=) c.1485A= (p.Ser495=) c.119+195A= c.42A= (p.Ser14=) | |
3 | g.52403607G>A | CA353100772 | BAP1 | c.1538C>T (p.Ser513Leu) c.1484C>T (p.Ser495Leu) c.119+194C>T c.41C>T (p.Ser14Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403607G>C | CA353100774 | BAP1 | c.1538C>G (p.Ser513Ter) c.1484C>G (p.Ser495Ter) c.119+194C>G c.41C>G (p.Ser14Ter) | gnomAD v4 COSMIC |
3 | g.52403607G= | CA1364836682 | BAP1 | c.1538C= (p.Ser513=) c.1484C= (p.Ser495=) c.119+194C= c.41C= (p.Ser14=) | |
3 | g.52403607G>T | CA353100775 | BAP1 | c.1538C>A (p.Ser513Ter) c.1484C>A (p.Ser495Ter) c.119+194C>A c.41C>A (p.Ser14Ter) | |
3 | g.52403608A= | CA1364836687 | BAP1 | c.1537T= (p.Ser513=) c.1483T= (p.Ser495=) c.119+193T= c.40T= (p.Ser14=) | |
3 | g.52403608A>C | CA353100779 | BAP1 | c.1537T>G (p.Ser513Ala) c.1483T>G (p.Ser495Ala) c.119+193T>G c.40T>G (p.Ser14Ala) | |
3 | g.52403608A>G | CA2436782 | BAP1 | c.1537T>C (p.Ser513Pro) c.1483T>C (p.Ser495Pro) c.119+193T>C c.40T>C (p.Ser14Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403608A>T | CA353100782 | BAP1 | c.1537T>A (p.Ser513Thr) c.1483T>A (p.Ser495Thr) c.119+193T>A c.40T>A (p.Ser14Thr) | |
3 | g.52403609G>A | CA2436783 | BAP1 | c.1536C>T (p.Arg512=) c.1482C>T (p.Arg494=) c.119+192C>T c.39C>T (p.Arg13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.52403609G>C | CA433886126 | BAP1 | c.1536C>G (p.Arg512=) c.1482C>G (p.Arg494=) c.119+192C>G c.39C>G (p.Arg13=) | |
3 | g.52403609G= | CA1364836691 | BAP1 | c.1536C= (p.Arg512=) c.1482C= (p.Arg494=) c.119+192C= c.39C= (p.Arg13=) | |
3 | g.52403609G>T | CA433886121 | BAP1 | c.1536C>A (p.Arg512=) c.1482C>A (p.Arg494=) c.119+192C>A c.39C>A (p.Arg13=) | dbSNP |
3 | g.52403610C>A | CA353100787 | BAP1 | c.1535G>T (p.Arg512Leu) c.1481G>T (p.Arg494Leu) c.119+191G>T c.38G>T (p.Arg13Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403610C= | CA1364836697 | BAP1 | c.1535G= (p.Arg512=) c.1481G= (p.Arg494=) c.119+191G= c.38G= (p.Arg13=) | |
3 | g.52403610C>G | CA353100789 | BAP1 | c.1535G>C (p.Arg512Pro) c.1481G>C (p.Arg494Pro) c.119+191G>C c.38G>C (p.Arg13Pro) | dbSNP |
3 | g.52403610C>T | CA2436784 | BAP1 | c.1535G>A (p.Arg512His) c.1481G>A (p.Arg494His) c.119+191G>A c.38G>A (p.Arg13His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403611G>A | CA2436785 | BAP1 | c.1534C>T (p.Arg512Cys) c.1480C>T (p.Arg494Cys) c.119+190C>T c.37C>T (p.Arg13Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403611G>C | CA353100795 | BAP1 | c.1534C>G (p.Arg512Gly) c.1480C>G (p.Arg494Gly) c.119+190C>G c.37C>G (p.Arg13Gly) | |
3 | g.52403611G= | CA1364836702 | BAP1 | c.1534C= (p.Arg512=) c.1480C= (p.Arg494=) c.119+190C= c.37C= (p.Arg13=) | |
3 | g.52403611G>T | CA353100794 | BAP1 | c.1534C>A (p.Arg512Ser) c.1480C>A (p.Arg494Ser) c.119+190C>A c.37C>A (p.Arg13Ser) | |
3 | g.52403612G>A | CA433886138 | BAP1 | c.1533C>T (p.Ile511=) c.1479C>T (p.Ile493=) c.119+189C>T c.36C>T (p.Ile12=) | |
3 | g.52403612G>C | CA2436786 | BAP1 | c.1533C>G (p.Ile511Met) c.1479C>G (p.Ile493Met) c.119+189C>G c.36C>G (p.Ile12Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403612G= | CA1364836704 | BAP1 | c.1533C= (p.Ile511=) c.1479C= (p.Ile493=) c.119+189C= c.36C= (p.Ile12=) | |
3 | g.52403612G>T | CA2436787 | BAP1 | c.1533C>A (p.Ile511=) c.1479C>A (p.Ile493=) c.119+189C>A c.36C>A (p.Ile12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403612_52403613insGA | CA2586972741 | BAP1 | c.1532_1533insTC (p.Arg512ProfsTer?) c.1478_1479insTC (p.Arg494ProfsTer?) c.119+188_119+189insTC c.35_36insTC (p.Arg13ProfsTer?) | |
3 | g.52403613A>C | CA353100799 | BAP1 | c.1532T>G (p.Ile511Ser) c.1478T>G (p.Ile493Ser) c.119+188T>G c.35T>G (p.Ile12Ser) | |
3 | g.52403613A>G | CA353100801 | BAP1 | c.1532T>C (p.Ile511Thr) c.1478T>C (p.Ile493Thr) c.119+188T>C c.35T>C (p.Ile12Thr) | |
3 | g.52403613A>T | CA353100800 | BAP1 | c.1532T>A (p.Ile511Asn) c.1478T>A (p.Ile493Asn) c.119+188T>A c.35T>A (p.Ile12Asn) | |
3 | g.52403614T>A | CA353100804 | BAP1 | c.1531A>T (p.Ile511Phe) c.1477A>T (p.Ile493Phe) c.119+187A>T c.34A>T (p.Ile12Phe) | |
3 | g.52403614T>C | CA353100808 | BAP1 | c.1531A>G (p.Ile511Val) c.1477A>G (p.Ile493Val) c.119+187A>G c.34A>G (p.Ile12Val) | ClinVar dbSNP |
3 | g.52403614T>G | CA353100805 | BAP1 | c.1531A>C (p.Ile511Leu) c.1477A>C (p.Ile493Leu) c.119+187A>C c.34A>C (p.Ile12Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.52403614T= | CA1364836707 | BAP1 | c.1531A= (p.Ile511=) c.1477A= (p.Ile493=) c.119+187A= c.34A= (p.Ile12=) | |
3 | g.52403615del | CA2586972742 | BAP1 | c.1530del (p.Ile511SerfsTer?) c.1476del (p.Ile493SerfsTer?) c.119+186del c.33del (p.Ile12SerfsTer?) | |
3 | g.52403615A>C | CA433886149 | BAP1 | c.1530T>G (p.Pro510=) c.1476T>G (p.Pro492=) c.119+186T>G c.33T>G (p.Pro11=) | |
3 | g.52403615A>G | CA433886152 | BAP1 | c.1530T>C (p.Pro510=) c.1476T>C (p.Pro492=) c.119+186T>C c.33T>C (p.Pro11=) | |
3 | g.52403615A>T | CA433886151 | BAP1 | c.1530T>A (p.Pro510=) c.1476T>A (p.Pro492=) c.119+186T>A c.33T>A (p.Pro11=) | |
3 | g.52403616G>A | CA353100809 | BAP1 | c.1529C>T (p.Pro510Leu) c.1475C>T (p.Pro492Leu) c.119+185C>T c.32C>T (p.Pro11Leu) | |
3 | g.52403616G>C | CA353100813 | BAP1 | c.1529C>G (p.Pro510Arg) c.1475C>G (p.Pro492Arg) c.119+185C>G c.32C>G (p.Pro11Arg) | |
3 | g.52403616G>T | CA353100812 | BAP1 | c.1529C>A (p.Pro510His) c.1475C>A (p.Pro492His) c.119+185C>A c.32C>A (p.Pro11His) | |
3 | g.52403617G>A | CA353100814 | BAP1 | c.1528C>T (p.Pro510Ser) c.1474C>T (p.Pro492Ser) c.119+184C>T c.31C>T (p.Pro11Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403617G>C | CA353100816 | BAP1 | c.1528C>G (p.Pro510Ala) c.1474C>G (p.Pro492Ala) c.119+184C>G c.31C>G (p.Pro11Ala) | |
3 | g.52403617G= | CA1364836709 | BAP1 | c.1528C= (p.Pro510=) c.1474C= (p.Pro492=) c.119+184C= c.31C= (p.Pro11=) | |
3 | g.52403617G>T | CA2436788 | BAP1 | c.1528C>A (p.Pro510Thr) c.1474C>A (p.Pro492Thr) c.119+184C>A c.31C>A (p.Pro11Thr) | dbSNP ExAC |
3 | g.52403618C>A | CA433886159 | BAP1 | c.1527G>T (p.Ser509=) c.1473G>T (p.Ser491=) c.119+183G>T c.30G>T (p.Ser10=) | ClinVar |
3 | g.52403618C= | CA1364836712 | BAP1 | c.1527G= (p.Ser509=) c.1473G= (p.Ser491=) c.119+183G= c.30G= (p.Ser10=) | |
3 | g.52403618C>G | CA433886160 | BAP1 | c.1527G>C (p.Ser509=) c.1473G>C (p.Ser491=) c.119+183G>C c.30G>C (p.Ser10=) | ClinVar dbSNP |
3 | g.52403618C>T | CA74740723 | BAP1 | c.1527G>A (p.Ser509=) c.1473G>A (p.Ser491=) c.119+183G>A c.30G>A (p.Ser10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403619G>A | CA353100822 | BAP1 | c.1526C>T (p.Ser509Leu) c.1472C>T (p.Ser491Leu) c.119+182C>T c.29C>T (p.Ser10Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.52403619G>C | CA353100825 | BAP1 | c.1526C>G (p.Ser509Trp) c.1472C>G (p.Ser491Trp) c.119+182C>G c.29C>G (p.Ser10Trp) | |
3 | g.52403619G= | CA1364836715 | BAP1 | c.1526C= (p.Ser509=) c.1472C= (p.Ser491=) c.119+182C= c.29C= (p.Ser10=) | |
3 | g.52403619G>T | CA353100828 | BAP1 | c.1526C>A (p.Ser509Ter) c.1472C>A (p.Ser491Ter) c.119+182C>A c.29C>A (p.Ser10Ter) | ClinVar COSMIC |
3 | g.52403620A>C | CA353100830 | BAP1 | c.1525T>G (p.Ser509Ala) c.1471T>G (p.Ser491Ala) c.119+181T>G c.28T>G (p.Ser10Ala) | |
3 | g.52403620A>G | CA353100833 | BAP1 | c.1525T>C (p.Ser509Pro) c.1471T>C (p.Ser491Pro) c.119+181T>C c.28T>C (p.Ser10Pro) | |
3 | g.52403620A>T | CA353100836 | BAP1 | c.1525T>A (p.Ser509Thr) c.1471T>A (p.Ser491Thr) c.119+181T>A c.28T>A (p.Ser10Thr) | |
3 | g.52403621G>A | CA433886167 | BAP1 | c.1524C>T (p.Arg508=) c.1470C>T (p.Arg490=) c.119+180C>T c.27C>T (p.Arg9=) | dbSNP |
3 | g.52403621G>C | CA433886168 | BAP1 | c.1524C>G (p.Arg508=) c.1470C>G (p.Arg490=) c.119+180C>G c.27C>G (p.Arg9=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403621G= | CA1364836718 | BAP1 | c.1524C= (p.Arg508=) c.1470C= (p.Arg490=) c.119+180C= c.27C= (p.Arg9=) | |
3 | g.52403621G>T | CA433886170 | BAP1 | c.1524C>A (p.Arg508=) c.1470C>A (p.Arg490=) c.119+180C>A c.27C>A (p.Arg9=) | |
3 | g.52403622del | CA2580070228 | BAP1 | c.1523del (p.Arg508ProfsTer?) c.1469del (p.Arg490ProfsTer?) c.119+179del c.26del (p.Arg9ProfsTer?) | ClinVar |
3 | g.52403622C>A | CA353100839 | BAP1 | c.1523G>T (p.Arg508Leu) c.1469G>T (p.Arg490Leu) c.119+179G>T c.26G>T (p.Arg9Leu) | |
3 | g.52403622C= | CA1364836721 | BAP1 | c.1523G= (p.Arg508=) c.1469G= (p.Arg490=) c.119+179G= c.26G= (p.Arg9=) | |
3 | g.52403622C>G | CA353100841 | BAP1 | c.1523G>C (p.Arg508Pro) c.1469G>C (p.Arg490Pro) c.119+179G>C c.26G>C (p.Arg9Pro) | dbSNP |
3 | g.52403622C>T | CA353100842 | BAP1 | c.1523G>A (p.Arg508His) c.1469G>A (p.Arg490His) c.119+179G>A c.26G>A (p.Arg9His) | ClinVar dbSNP gnomAD v4 |
3 | g.52403623G>A | CA74740729 | BAP1 | c.1522C>T (p.Arg508Cys) c.1468C>T (p.Arg490Cys) c.119+178C>T c.25C>T (p.Arg9Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403623G>C | CA353100846 | BAP1 | c.1522C>G (p.Arg508Gly) c.1468C>G (p.Arg490Gly) c.119+178C>G c.25C>G (p.Arg9Gly) | |
3 | g.52403623G= | CA1364836723 | BAP1 | c.1522C= (p.Arg508=) c.1468C= (p.Arg490=) c.119+178C= c.25C= (p.Arg9=) | |
3 | g.52403623G>T | CA353100847 | BAP1 | c.1522C>A (p.Arg508Ser) c.1468C>A (p.Arg490Ser) c.119+178C>A c.25C>A (p.Arg9Ser) | |
3 | g.52403624_52403628del | CA645529910 | BAP1 | c.1518_1522del (p.Arg508AlafsTer27) c.1464_1468del (p.Arg490AlafsTer27) c.119+174_119+178del c.21_25del (p.Arg9AlafsTer27) | COSMIC |
3 | g.52403624C>A | CA433886177 | BAP1 | c.1521G>T (p.Leu507=) c.1467G>T (p.Leu489=) c.119+177G>T c.24G>T (p.Leu8=) | ClinVar dbSNP |
3 | g.52403624C= | CA1364836725 | BAP1 | c.1521G= (p.Leu507=) c.1467G= (p.Leu489=) c.119+177G= c.24G= (p.Leu8=) | |
3 | g.52403624C>G | CA433886179 | BAP1 | c.1521G>C (p.Leu507=) c.1467G>C (p.Leu489=) c.119+177G>C c.24G>C (p.Leu8=) | ClinVar dbSNP |
3 | g.52403624C>T | CA433886181 | BAP1 | c.1521G>A (p.Leu507=) c.1467G>A (p.Leu489=) c.119+177G>A c.24G>A (p.Leu8=) | ClinVar gnomAD v4 |
3 | g.52403625A= | CA1364836728 | BAP1 | c.1520T= (p.Leu507=) c.1466T= (p.Leu489=) c.119+176T= c.23T= (p.Leu8=) | |
3 | g.52403625A>C | CA353100852 | BAP1 | c.1520T>G (p.Leu507Arg) c.1466T>G (p.Leu489Arg) c.119+176T>G c.23T>G (p.Leu8Arg) | |
3 | g.52403625A>G | CA353100855 | BAP1 | c.1520T>C (p.Leu507Pro) c.1466T>C (p.Leu489Pro) c.119+176T>C c.23T>C (p.Leu8Pro) | ClinVar dbSNP |
3 | g.52403625A>T | CA353100856 | BAP1 | c.1520T>A (p.Leu507Gln) c.1466T>A (p.Leu489Gln) c.119+176T>A c.23T>A (p.Leu8Gln) | |
3 | g.52403626G>A | CA433886183 | BAP1 | c.1519C>T (p.Leu507=) c.1465C>T (p.Leu489=) c.119+175C>T c.22C>T (p.Leu8=) | ClinVar |
3 | g.52403626G>C | CA353100859 | BAP1 | c.1519C>G (p.Leu507Val) c.1465C>G (p.Leu489Val) c.119+175C>G c.22C>G (p.Leu8Val) | |
3 | g.52403626G>T | CA353100861 | BAP1 | c.1519C>A (p.Leu507Met) c.1465C>A (p.Leu489Met) c.119+175C>A c.22C>A (p.Leu8Met) | |
3 | g.52403627T>A | CA433886187 | BAP1 | c.1518A>T (p.Pro506=) c.1464A>T (p.Pro488=) c.119+174A>T c.21A>T (p.Pro7=) | ClinVar |
3 | g.52403627T>C | CA433886189 | BAP1 | c.1518A>G (p.Pro506=) c.1464A>G (p.Pro488=) c.119+174A>G c.21A>G (p.Pro7=) | COSMIC |
3 | g.52403627T>G | CA433886190 | BAP1 | c.1518A>C (p.Pro506=) c.1464A>C (p.Pro488=) c.119+174A>C c.21A>C (p.Pro7=) | |
3 | g.52403628G>A | CA353100864 | BAP1 | c.1517C>T (p.Pro506Leu) c.1463C>T (p.Pro488Leu) c.119+173C>T c.20C>T (p.Pro7Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403628G>C | CA353100866 | BAP1 | c.1517C>G (p.Pro506Arg) c.1463C>G (p.Pro488Arg) c.119+173C>G c.20C>G (p.Pro7Arg) | |
3 | g.52403628G= | CA1364836730 | BAP1 | c.1517C= (p.Pro506=) c.1463C= (p.Pro488=) c.119+173C= c.20C= (p.Pro7=) | |
3 | g.52403628G>T | CA353100868 | BAP1 | c.1517C>A (p.Pro506Gln) c.1463C>A (p.Pro488Gln) c.119+173C>A c.20C>A (p.Pro7Gln) | |
3 | g.52403628_52403629insCTTTCAACTCGCCACT | CA2840121561 | BAP1 | c.1516_1517insAGTGGCGAGTTGAAAG (p.Pro506GlnfsTer?) c.1462_1463insAGTGGCGAGTTGAAAG (p.Pro488GlnfsTer?) c.119+172_119+173insAGTGGCGAGTTGAAAG c.19_20insAGTGGCGAGTTGAAAG (p.Pro7GlnfsTer?) | |
3 | g.52403629G>A | CA353100872 | BAP1 | c.1516C>T (p.Pro506Ser) c.1462C>T (p.Pro488Ser) c.119+172C>T c.19C>T (p.Pro7Ser) | ClinVar |
3 | g.52403629G>C | CA353100875 | BAP1 | c.1516C>G (p.Pro506Ala) c.1462C>G (p.Pro488Ala) c.119+172C>G c.19C>G (p.Pro7Ala) | |
3 | g.52403629G>T | CA353100877 | BAP1 | c.1516C>A (p.Pro506Thr) c.1462C>A (p.Pro488Thr) c.119+172C>A c.19C>A (p.Pro7Thr) | |
3 | g.52403630_52403631del | CA2580070229 | BAP1 | c.1515_1516del (p.Pro506ThrfsTer?) c.1461_1462del (p.Pro488ThrfsTer?) c.119+171_119+172del c.18_19del (p.Pro7ThrfsTer?) | ClinVar |
3 | g.52403630C>A | CA433886193 | BAP1 | c.1515G>T (p.Ser505=) c.1461G>T (p.Ser487=) c.119+171G>T c.18G>T (p.Ser6=) | ClinVar |
3 | g.52403630C= | CA1364836734 | BAP1 | c.1515G= (p.Ser505=) c.1461G= (p.Ser487=) c.119+171G= c.18G= (p.Ser6=) | |
3 | g.52403630C>G | CA433886192 | BAP1 | c.1515G>C (p.Ser505=) c.1461G>C (p.Ser487=) c.119+171G>C c.18G>C (p.Ser6=) | |
3 | g.52403630C>T | CA2436789 | BAP1 | c.1515G>A (p.Ser505=) c.1461G>A (p.Ser487=) c.119+171G>A c.18G>A (p.Ser6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403630_52403632delinsCGA | CA1364836733 | BAP1 | c.1513_1515delinsTCG (p.Ser505=) c.1459_1461delinsTCG (p.Ser487=) c.119+169_119+171delinsTCG c.16_18delinsTCG (p.Ser6=) | |
3 | g.52403631G>A | CA353100880 | BAP1 | c.1514C>T (p.Ser505Leu) c.1460C>T (p.Ser487Leu) c.119+170C>T c.17C>T (p.Ser6Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403631G>C | CA353100884 | BAP1 | c.1514C>G (p.Ser505Trp) c.1460C>G (p.Ser487Trp) c.119+170C>G c.17C>G (p.Ser6Trp) | |
3 | g.52403631G= | CA1364836737 | BAP1 | c.1514C= (p.Ser505=) c.1460C= (p.Ser487=) c.119+170C= c.17C= (p.Ser6=) | |
3 | g.52403631G>T | CA353100881 | BAP1 | c.1514C>A (p.Ser505Ter) c.1460C>A (p.Ser487Ter) c.119+170C>A c.17C>A (p.Ser6Ter) | ClinVar dbSNP |
3 | g.52403632_52403633del | CA915942470 | BAP1 | c.1513_1514del (p.Ser505AlafsTer?) c.1459_1460del (p.Ser487AlafsTer?) c.119+169_119+170del c.16_17del (p.Ser6AlafsTer?) | ClinVar dbSNP |