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.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 |
| 3 | g.52403632A>C | CA353100886 | BAP1 | c.1513T>G (p.Ser505Ala) c.1459T>G (p.Ser487Ala) c.119+169T>G c.16T>G (p.Ser6Ala) | |
| 3 | g.52403632A>G | CA353100888 | BAP1 | c.1513T>C (p.Ser505Pro) c.1459T>C (p.Ser487Pro) c.119+169T>C c.16T>C (p.Ser6Pro) | |
| 3 | g.52403632A>T | CA353100891 | BAP1 | c.1513T>A (p.Ser505Thr) c.1459T>A (p.Ser487Thr) c.119+169T>A c.16T>A (p.Ser6Thr) | |
| 3 | g.52403633G>A | CA433886199 | BAP1 | c.1512C>T (p.Asn504=) c.1458C>T (p.Asn486=) c.119+168C>T c.15C>T (p.Asn5=) | |
| 3 | g.52403633G>C | CA353100894 | BAP1 | c.1512C>G (p.Asn504Lys) c.1458C>G (p.Asn486Lys) c.119+168C>G c.15C>G (p.Asn5Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403633G= | CA1364836740 | BAP1 | c.1512C= (p.Asn504=) c.1458C= (p.Asn486=) c.119+168C= c.15C= (p.Asn5=) | |
| 3 | g.52403633G>T | CA353100896 | BAP1 | c.1512C>A (p.Asn504Lys) c.1458C>A (p.Asn486Lys) c.119+168C>A c.15C>A (p.Asn5Lys) | |
| 3 | g.52403634T>A | CA353100900 | BAP1 | c.1511A>T (p.Asn504Ile) c.1457A>T (p.Asn486Ile) c.119+167A>T c.14A>T (p.Asn5Ile) | |
| 3 | g.52403634T>C | CA2436790 | BAP1 | c.1511A>G (p.Asn504Ser) c.1457A>G (p.Asn486Ser) c.119+167A>G c.14A>G (p.Asn5Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403634T>G | CA353100902 | BAP1 | c.1511A>C (p.Asn504Thr) c.1457A>C (p.Asn486Thr) c.119+167A>C c.14A>C (p.Asn5Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403634T= | CA1364836742 | BAP1 | c.1511A= (p.Asn504=) c.1457A= (p.Asn486=) c.119+167A= c.14A= (p.Asn5=) | |
| 3 | g.52403635T>A | CA353100903 | BAP1 | c.1510A>T (p.Asn504Tyr) c.1456A>T (p.Asn486Tyr) c.119+166A>T c.13A>T (p.Asn5Tyr) | dbSNP |
| 3 | g.52403635T>C | CA353100904 | BAP1 | c.1510A>G (p.Asn504Asp) c.1456A>G (p.Asn486Asp) c.119+166A>G c.13A>G (p.Asn5Asp) | |
| 3 | g.52403635T>G | CA353100907 | BAP1 | c.1510A>C (p.Asn504His) c.1456A>C (p.Asn486His) c.119+166A>C c.13A>C (p.Asn5His) | |
| 3 | g.52403636G>A | CA433886201 | BAP1 | c.1509C>T (p.Phe503=) c.1455C>T (p.Phe485=) c.119+165C>T c.12C>T (p.Phe4=) | ClinVar |
| 3 | g.52403636G>C | CA353100913 | BAP1 | c.1509C>G (p.Phe503Leu) c.1455C>G (p.Phe485Leu) c.119+165C>G c.12C>G (p.Phe4Leu) | ClinVar gnomAD v4 |
| 3 | g.52403636G>T | CA353100910 | BAP1 | c.1509C>A (p.Phe503Leu) c.1455C>A (p.Phe485Leu) c.119+165C>A c.12C>A (p.Phe4Leu) | |
| 3 | g.52403637A>C | CA353100915 | BAP1 | c.1508T>G (p.Phe503Cys) c.1454T>G (p.Phe485Cys) c.119+164T>G c.11T>G (p.Phe4Cys) | |
| 3 | g.52403637A>G | CA353100917 | BAP1 | c.1508T>C (p.Phe503Ser) c.1454T>C (p.Phe485Ser) c.119+164T>C c.11T>C (p.Phe4Ser) | |
| 3 | g.52403637A>T | CA353100918 | BAP1 | c.1508T>A (p.Phe503Tyr) c.1454T>A (p.Phe485Tyr) c.119+164T>A c.11T>A (p.Phe4Tyr) | |
| 3 | g.52403639dup | CA2697556702 | BAP1 | c.1508dup (p.Asn504GlnfsTer?) c.1454dup (p.Asn486GlnfsTer?) c.119+164dup c.11dup (p.Asn5GlnfsTer?) | ClinVar |
| 3 | g.52403639del | CA433886203 | BAP1 | c.1508del (p.Phe503SerfsTer?) c.1454del (p.Phe485SerfsTer?) c.119+164del c.11del (p.Phe4SerfsTer?) | COSMIC |
| 3 | g.52403638A= | CA1364836745 | BAP1 | c.1507T= (p.Phe503=) c.1453T= (p.Phe485=) c.119+163T= c.10T= (p.Phe4=) | |
| 3 | g.52403638A>C | CA353100921 | BAP1 | c.1507T>G (p.Phe503Val) c.1453T>G (p.Phe485Val) c.119+163T>G c.10T>G (p.Phe4Val) | |
| 3 | g.52403638A>G | CA2436791 | BAP1 | c.1507T>C (p.Phe503Leu) c.1453T>C (p.Phe485Leu) c.119+163T>C c.10T>C (p.Phe4Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403638A>T | CA353100925 | BAP1 | c.1507T>A (p.Phe503Ile) c.1453T>A (p.Phe485Ile) c.119+163T>A c.10T>A (p.Phe4Ile) | |
| 3 | g.52403639A>C | CA433886205 | BAP1 | c.1506T>G (p.Ala502=) c.1452T>G (p.Ala484=) c.119+162T>G c.9T>G (p.Ala3=) | |
| 3 | g.52403639A>G | CA433886206 | BAP1 | c.1506T>C (p.Ala502=) c.1452T>C (p.Ala484=) c.119+162T>C c.9T>C (p.Ala3=) | |
| 3 | g.52403639A>T | CA433886207 | BAP1 | c.1506T>A (p.Ala502=) c.1452T>A (p.Ala484=) c.119+162T>A c.9T>A (p.Ala3=) | |
| 3 | g.52403640G>A | CA353100928 | BAP1 | c.1505C>T (p.Ala502Val) c.1451C>T (p.Ala484Val) c.119+161C>T c.8C>T (p.Ala3Val) | ClinVar dbSNP |
| 3 | g.52403640G>C | CA353100930 | BAP1 | c.1505C>G (p.Ala502Gly) c.1451C>G (p.Ala484Gly) c.119+161C>G c.8C>G (p.Ala3Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403640G>T | CA353100933 | BAP1 | c.1505C>A (p.Ala502Asp) c.1451C>A (p.Ala484Asp) c.119+161C>A c.8C>A (p.Ala3Asp) | ClinVar |
| 3 | g.52403641C>A | CA353100936 | BAP1 | c.1504G>T (p.Ala502Ser) c.1450G>T (p.Ala484Ser) c.119+160G>T c.7G>T (p.Ala3Ser) | |
| 3 | g.52403641C>G | CA353100937 | BAP1 | c.1504G>C (p.Ala502Pro) c.1450G>C (p.Ala484Pro) c.119+160G>C c.7G>C (p.Ala3Pro) | |
| 3 | g.52403641C>T | CA353100938 | BAP1 | c.1504G>A (p.Ala502Thr) c.1450G>A (p.Ala484Thr) c.119+160G>A c.7G>A (p.Ala3Thr) | ClinVar |
| 3 | g.52403642A= | CA1364836748 | BAP1 | c.1503T= (p.Ser501=) c.1449T= (p.Ser483=) c.119+159T= c.6T= (p.Ser2=) | |
| 3 | g.52403642A>C | CA74740732 | BAP1 | c.1503T>G (p.Ser501Arg) c.1449T>G (p.Ser483Arg) c.119+159T>G c.6T>G (p.Ser2Arg) | dbSNP |
| 3 | g.52403642A>G | CA433886211 | BAP1 | c.1503T>C (p.Ser501=) c.1449T>C (p.Ser483=) c.119+159T>C c.6T>C (p.Ser2=) | |
| 3 | g.52403642A>T | CA353100939 | BAP1 | c.1503T>A (p.Ser501Arg) c.1449T>A (p.Ser483Arg) c.119+159T>A c.6T>A (p.Ser2Arg) | dbSNP |
| 3 | g.52403643C>A | CA353100950 | BAP1 | c.1502G>T (p.Ser501Ile) c.1448G>T (p.Ser483Ile) c.119+158G>T c.5G>T (p.Ser2Ile) | |
| 3 | g.52403643C>G | CA353100955 | BAP1 | c.1502G>C (p.Ser501Thr) c.1448G>C (p.Ser483Thr) c.119+158G>C c.5G>C (p.Ser2Thr) | |
| 3 | g.52403643C>T | CA353100953 | BAP1 | c.1502G>A (p.Ser501Asn) c.1448G>A (p.Ser483Asn) c.119+158G>A c.5G>A (p.Ser2Asn) | |
| 3 | g.52403644T>A | CA353100959 | BAP1 | c.1501A>T (p.Ser501Cys) c.1447A>T (p.Ser483Cys) c.119+157A>T c.4A>T (p.Ser2Cys) | |
| 3 | g.52403644T>C | CA353100960 | BAP1 | c.1501A>G (p.Ser501Gly) c.1447A>G (p.Ser483Gly) c.119+157A>G c.4A>G (p.Ser2Gly) | ClinVar dbSNP |
| 3 | g.52403644T>G | CA353100962 | BAP1 | c.1501A>C (p.Ser501Arg) c.1447A>C (p.Ser483Arg) c.119+157A>C c.4A>C (p.Ser2Arg) | |
| 3 | g.52403645G>A | CA433886216 | BAP1 | c.1500C>T (p.Gly500=) c.1446C>T (p.Gly482=) c.119+156C>T c.3C>T (p.Gly1=) | dbSNP gnomAD v4 |
| 3 | g.52403645G>C | CA433886218 | BAP1 | c.1500C>G (p.Gly500=) c.1446C>G (p.Gly482=) c.119+156C>G c.3C>G (p.Gly1=) | |
| 3 | g.52403645G>T | CA433886220 | BAP1 | c.1500C>A (p.Gly500=) c.1446C>A (p.Gly482=) c.119+156C>A c.3C>A (p.Gly1=) | |
| 3 | g.52403646C>A | CA353100963 | BAP1 | c.1499G>T (p.Gly500Val) c.1445G>T (p.Gly482Val) c.119+155G>T c.2G>T (p.Gly1Val) | |
| 3 | g.52403646C>G | CA353100967 | BAP1 | c.1499G>C (p.Gly500Ala) c.1445G>C (p.Gly482Ala) c.119+155G>C c.2G>C (p.Gly1Ala) | dbSNP |
| 3 | g.52403646C>T | CA353100970 | BAP1 | c.1499G>A (p.Gly500Asp) c.1445G>A (p.Gly482Asp) c.119+155G>A c.2G>A (p.Gly1Asp) | dbSNP |
| 3 | g.52403647C>A | CA353100972 | BAP1 | c.1498G>T (p.Gly500Cys) c.1444G>T (p.Gly482Cys) c.119+154G>T c.1G>T (p.Gly1Cys) | dbSNP |
| 3 | g.52403647C= | CA1364836750 | BAP1 | c.1498G= (p.Gly500=) c.1444G= (p.Gly482=) c.119+154G= c.1G= (p.Gly1=) | |
| 3 | g.52403647C>G | CA353100973 | BAP1 | c.1498G>C (p.Gly500Arg) c.1444G>C (p.Gly482Arg) c.119+154G>C c.1G>C (p.Gly1Arg) | dbSNP |
| 3 | g.52403647C>T | CA353100976 | BAP1 | c.1498G>A (p.Gly500Ser) c.1444G>A (p.Gly482Ser) c.119+154G>A c.1G>A (p.Gly1Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403648del | CA433886224 | BAP1 | c.1497del (p.Ile499MetfsTer?) c.1443del (p.Ile481MetfsTer?) c.119+153del | COSMIC COSMIC |
| 3 | g.52403648G>A | CA2436792 | BAP1 | c.1497C>T (p.Ile499=) c.1443C>T (p.Ile481=) c.119+153C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403648G>C | CA353100978 | BAP1 | c.1497C>G (p.Ile499Met) c.1443C>G (p.Ile481Met) c.119+153C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403648G= | CA1364836754 | BAP1 | c.1497C= (p.Ile499=) c.1443C= (p.Ile481=) c.119+153C= | |
| 3 | g.52403648G>T | CA433886225 | BAP1 | c.1497C>A (p.Ile499=) c.1443C>A (p.Ile481=) c.119+153C>A | ClinVar gnomAD v4 |
| 3 | g.52403649A= | CA1364836757 | BAP1 | c.1496T= (p.Ile499=) c.1442T= (p.Ile481=) c.119+152T= | |
| 3 | g.52403649A>C | CA353100984 | BAP1 | c.1496T>G (p.Ile499Ser) c.1442T>G (p.Ile481Ser) c.119+152T>G | |
| 3 | g.52403649A>G | CA353100982 | BAP1 | c.1496T>C (p.Ile499Thr) c.1442T>C (p.Ile481Thr) c.119+152T>C | dbSNP |
| 3 | g.52403649A>T | CA353100981 | BAP1 | c.1496T>A (p.Ile499Asn) c.1442T>A (p.Ile481Asn) c.119+152T>A | |
| 3 | g.52403650T>A | CA353100987 | BAP1 | c.1495A>T (p.Ile499Phe) c.1441A>T (p.Ile481Phe) c.119+151A>T | |
| 3 | g.52403650T>C | CA2436793 | BAP1 | c.1495A>G (p.Ile499Val) c.1441A>G (p.Ile481Val) c.119+151A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403650T>G | CA353100990 | BAP1 | c.1495A>C (p.Ile499Leu) c.1441A>C (p.Ile481Leu) c.119+151A>C | |
| 3 | g.52403650T= | CA1364836758 | BAP1 | c.1495A= (p.Ile499=) c.1441A= (p.Ile481=) c.119+151A= | |
| 3 | g.52403651C>A | CA353100993 | BAP1 | c.1494G>T (p.Glu498Asp) c.1440G>T (p.Glu480Asp) c.119+150G>T | |
| 3 | g.52403651C>G | CA353100995 | BAP1 | c.1494G>C (p.Glu498Asp) c.1440G>C (p.Glu480Asp) c.119+150G>C | |
| 3 | g.52403651C>T | CA433886229 | BAP1 | c.1494G>A (p.Glu498=) c.1440G>A (p.Glu480=) c.119+150G>A | ClinVar |
| 3 | g.52403652T>A | CA353100998 | BAP1 | c.1493A>T (p.Glu498Val) c.1439A>T (p.Glu480Val) c.119+149A>T | |
| 3 | g.52403652T>C | CA353100999 | BAP1 | c.1493A>G (p.Glu498Gly) c.1439A>G (p.Glu480Gly) c.119+149A>G | dbSNP |
| 3 | g.52403652T>G | CA353101002 | BAP1 | c.1493A>C (p.Glu498Ala) c.1439A>C (p.Glu480Ala) c.119+149A>C | |
| 3 | g.52403653C>A | CA353101005 | BAP1 | c.1492G>T (p.Glu498Ter) c.1438G>T (p.Glu480Ter) c.119+148G>T | |
| 3 | g.52403653C>G | CA353101007 | BAP1 | c.1492G>C (p.Glu498Gln) c.1438G>C (p.Glu480Gln) c.119+148G>C | |
| 3 | g.52403653C>T | CA353101009 | BAP1 | c.1492G>A (p.Glu498Lys) c.1438G>A (p.Glu480Lys) c.119+148G>A | dbSNP |
| 3 | g.52403653_52403655delinsCAG | CA1364836760 | BAP1 | c.1490_1492delinsCTG (p.Ser497=) c.1436_1438delinsCTG (p.Ser479=) c.119+146_119+148delinsCTG | |
| 3 | g.52403653_52403654insTAA | CA2586972743 | BAP1 | c.1491_1492insTTA (p.Ser497_Glu498insLeu) c.1437_1438insTTA (p.Ser479_Glu480insLeu) c.119+147_119+148insTTA | |
| 3 | g.52403654A= | CA1364836762 | BAP1 | c.1491T= (p.Ser497=) c.1437T= (p.Ser479=) c.119+147T= | |
| 3 | g.52403654A>C | CA433886233 | BAP1 | c.1491T>G (p.Ser497=) c.1437T>G (p.Ser479=) c.119+147T>G | gnomAD v4 |
| 3 | g.52403654A>G | CA433886232 | BAP1 | c.1491T>C (p.Ser497=) c.1437T>C (p.Ser479=) c.119+147T>C | ClinVar dbSNP |
| 3 | g.52403654A>T | CA433886231 | BAP1 | c.1491T>A (p.Ser497=) c.1437T>A (p.Ser479=) c.119+147T>A | |
| 3 | g.52403656_52403657del | CA543056567 | BAP1 | c.1490_1491del (p.Ser497Ter) c.1436_1437del (p.Ser479Ter) c.119+146_119+147del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403655G>A | CA353101015 | BAP1 | c.1490C>T (p.Ser497Phe) c.1436C>T (p.Ser479Phe) c.119+146C>T | |
| 3 | g.52403655G>C | CA353101014 | BAP1 | c.1490C>G (p.Ser497Cys) c.1436C>G (p.Ser479Cys) c.119+146C>G | dbSNP |
| 3 | g.52403655G>T | CA353101012 | BAP1 | c.1490C>A (p.Ser497Tyr) c.1436C>A (p.Ser479Tyr) c.119+146C>A | |
| 3 | g.52403656A>C | CA353101018 | BAP1 | c.1489T>G (p.Ser497Ala) c.1435T>G (p.Ser479Ala) c.119+145T>G | |
| 3 | g.52403656A>G | CA353101019 | BAP1 | c.1489T>C (p.Ser497Pro) c.1435T>C (p.Ser479Pro) c.119+145T>C | |
| 3 | g.52403656A>T | CA353101022 | BAP1 | c.1489T>A (p.Ser497Thr) c.1435T>A (p.Ser479Thr) c.119+145T>A | |
| 3 | g.52403657G>A | CA433886236 | BAP1 | c.1488C>T (p.Ala496=) c.1434C>T (p.Ala478=) c.119+144C>T | |
| 3 | g.52403657G>C | CA433886238 | BAP1 | c.1488C>G (p.Ala496=) c.1434C>G (p.Ala478=) c.119+144C>G | ClinVar dbSNP |
| 3 | g.52403657G>T | CA433886237 | BAP1 | c.1488C>A (p.Ala496=) c.1434C>A (p.Ala478=) c.119+144C>A | |
| 3 | g.52403658G>A | CA353101029 | BAP1 | c.1487C>T (p.Ala496Val) c.1433C>T (p.Ala478Val) c.119+143C>T | dbSNP |
| 3 | g.52403658G>C | CA353101030 | BAP1 | c.1487C>G (p.Ala496Gly) c.1433C>G (p.Ala478Gly) c.119+143C>G | |
| 3 | g.52403658G>T | CA353101032 | BAP1 | c.1487C>A (p.Ala496Asp) c.1433C>A (p.Ala478Asp) c.119+143C>A | |
| 3 | g.52403659C>A | CA353101041 | BAP1 | c.1486G>T (p.Ala496Ser) c.1432G>T (p.Ala478Ser) c.119+142G>T | ClinVar |
| 3 | g.52403659C>G | CA353101036 | BAP1 | c.1486G>C (p.Ala496Pro) c.1432G>C (p.Ala478Pro) c.119+142G>C | |
| 3 | g.52403659C>T | CA353101040 | BAP1 | c.1486G>A (p.Ala496Thr) c.1432G>A (p.Ala478Thr) c.119+142G>A | dbSNP COSMIC |
| 3 | g.52403659_52403662del | CA2573137326 | BAP1 | c.1483_1486del (p.Thr495ProfsTer?) c.1429_1432del (p.Thr477ProfsTer?) c.119+139_119+142del | ClinVar dbSNP |
| 3 | g.52403660C>A | CA2436795 | BAP1 | c.1485G>T (p.Thr495=) c.1431G>T (p.Thr477=) c.119+141G>T | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.52403660C= | CA1364836766 | BAP1 | c.1485G= (p.Thr495=) c.1431G= (p.Thr477=) c.119+141G= | |
| 3 | g.52403660C>G | CA433886240 | BAP1 | c.1485G>C (p.Thr495=) c.1431G>C (p.Thr477=) c.119+141G>C | |
| 3 | g.52403660C>T | CA2436794 | BAP1 | c.1485G>A (p.Thr495=) c.1431G>A (p.Thr477=) c.119+141G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403661G>A | CA353101045 | BAP1 | c.1484C>T (p.Thr495Met) c.1430C>T (p.Thr477Met) c.119+140C>T | ClinVar dbSNP COSMIC |
| 3 | g.52403661G>C | CA353101048 | BAP1 | c.1484C>G (p.Thr495Arg) c.1430C>G (p.Thr477Arg) c.119+140C>G | |
| 3 | g.52403661G= | CA1364836767 | BAP1 | c.1484C= (p.Thr495=) c.1430C= (p.Thr477=) c.119+140C= | |
| 3 | g.52403661G>T | CA353101049 | BAP1 | c.1484C>A (p.Thr495Lys) c.1430C>A (p.Thr477Lys) c.119+140C>A | |
| 3 | g.52403662T>A | CA353101052 | BAP1 | c.1483A>T (p.Thr495Ser) c.1429A>T (p.Thr477Ser) c.119+139A>T | dbSNP |
| 3 | g.52403662T>C | CA353101056 | BAP1 | c.1483A>G (p.Thr495Ala) c.1429A>G (p.Thr477Ala) c.119+139A>G | gnomAD v4 |
| 3 | g.52403662T>G | CA353101054 | BAP1 | c.1483A>C (p.Thr495Pro) c.1429A>C (p.Thr477Pro) c.119+139A>C | dbSNP gnomAD v4 |
| 3 | g.52403662dup | CA2582342859 | BAP1 | c.1483dup (p.Thr495AsnfsTer4) c.1429dup (p.Thr477AsnfsTer4) c.119+139dup | ClinVar |
| 3 | g.52403663G>A | CA433886244 | BAP1 | c.1482C>T (p.Asp494=) c.1428C>T (p.Asp476=) c.119+138C>T | |
| 3 | g.52403663G>C | CA353101058 | BAP1 | c.1482C>G (p.Asp494Glu) c.1428C>G (p.Asp476Glu) c.119+138C>G | |
| 3 | g.52403663G>T | CA353101060 | BAP1 | c.1482C>A (p.Asp494Glu) c.1428C>A (p.Asp476Glu) c.119+138C>A | |
| 3 | g.52403664T>A | CA353101066 | BAP1 | c.1481A>T (p.Asp494Val) c.1427A>T (p.Asp476Val) c.119+137A>T | |
| 3 | g.52403664T>C | CA353101068 | BAP1 | c.1481A>G (p.Asp494Gly) c.1427A>G (p.Asp476Gly) c.119+137A>G | |
| 3 | g.52403664T>G | CA353101069 | BAP1 | c.1481A>C (p.Asp494Ala) c.1427A>C (p.Asp476Ala) c.119+137A>C | |
| 3 | g.52403665_52403666del | CA1139768936 | BAP1 | c.1480_1481del (p.Asp494HisfsTer4) c.1426_1427del (p.Asp476HisfsTer4) c.119+136_119+137del | ClinVar dbSNP |
| 3 | g.52403665C>A | CA353101071 | BAP1 | c.1480G>T (p.Asp494Tyr) c.1426G>T (p.Asp476Tyr) c.119+136G>T | |
| 3 | g.52403665C>G | CA353101074 | BAP1 | c.1480G>C (p.Asp494His) c.1426G>C (p.Asp476His) c.119+136G>C | |
| 3 | g.52403665C>T | CA353101076 | BAP1 | c.1480G>A (p.Asp494Asn) c.1426G>A (p.Asp476Asn) c.119+136G>A | |
| 3 | g.52403666T>A | CA433886249 | BAP1 | c.1479A>T (p.Thr493=) c.1425A>T (p.Thr475=) c.119+135A>T | |
| 3 | g.52403666T>C | CA433886251 | BAP1 | c.1479A>G (p.Thr493=) c.1425A>G (p.Thr475=) c.119+135A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403666T>G | CA433886252 | BAP1 | c.1479A>C (p.Thr493=) c.1425A>C (p.Thr475=) c.119+135A>C | |
| 3 | g.52403666T= | CA1364836769 | BAP1 | c.1479A= (p.Thr493=) c.1425A= (p.Thr475=) c.119+135A= | |
| 3 | g.52403667_52403668del | CA2697556703 | BAP1 | c.1478_1479del (p.Thr493ArgfsTer5) c.1424_1425del (p.Thr475ArgfsTer5) c.119+134_119+135del | ClinVar |
| 3 | g.52403667G>A | CA353101079 | BAP1 | c.1478C>T (p.Thr493Ile) c.1424C>T (p.Thr475Ile) c.119+134C>T | ClinVar dbSNP |
| 3 | g.52403667G>C | CA353101080 | BAP1 | c.1478C>G (p.Thr493Arg) c.1424C>G (p.Thr475Arg) c.119+134C>G | ClinVar gnomAD v4 |
| 3 | g.52403667G>T | CA353101081 | BAP1 | c.1478C>A (p.Thr493Lys) c.1424C>A (p.Thr475Lys) c.119+134C>A | |
| 3 | g.52403668T>A | CA353101087 | BAP1 | c.1477A>T (p.Thr493Ser) c.1423A>T (p.Thr475Ser) c.119+133A>T | |
| 3 | g.52403668T>C | CA353101090 | BAP1 | c.1477A>G (p.Thr493Ala) c.1423A>G (p.Thr475Ala) c.119+133A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403668T>G | CA353101085 | BAP1 | c.1477A>C (p.Thr493Pro) c.1423A>C (p.Thr475Pro) c.119+133A>C | |
| 3 | g.52403669A= | CA1364836772 | BAP1 | c.1476T= (p.Ser492=) c.1422T= (p.Ser474=) c.119+132T= | |
| 3 | g.52403669A>C | CA353101094 | BAP1 | c.1476T>G (p.Ser492Arg) c.1422T>G (p.Ser474Arg) c.119+132T>G | dbSNP |
| 3 | g.52403669A>G | CA433886255 | BAP1 | c.1476T>C (p.Ser492=) c.1422T>C (p.Ser474=) c.119+132T>C | ClinVar dbSNP |
| 3 | g.52403669A>T | CA353101092 | BAP1 | c.1476T>A (p.Ser492Arg) c.1422T>A (p.Ser474Arg) c.119+132T>A | dbSNP |
| 3 | g.52403669_52403671delinsACT | CA1364836771 | BAP1 | c.1474_1476delinsAGT (p.Ser492=) c.1420_1422delinsAGT (p.Ser474=) c.119+130_119+132delinsAGT | |
| 3 | g.52403670C>A | CA353101100 | BAP1 | c.1475G>T (p.Ser492Ile) c.1421G>T (p.Ser474Ile) c.119+131G>T | ClinVar |
| 3 | g.52403670C= | CA1364836776 | BAP1 | c.1475G= (p.Ser492=) c.1421G= (p.Ser474=) c.119+131G= | |
| 3 | g.52403670C>G | CA353101097 | BAP1 | c.1475G>C (p.Ser492Thr) c.1421G>C (p.Ser474Thr) c.119+131G>C | |
| 3 | g.52403670C>T | CA74740757 | BAP1 | c.1475G>A (p.Ser492Asn) c.1421G>A (p.Ser474Asn) c.119+131G>A | dbSNP |
| 3 | g.52403673_52403674del | CA891842892 | BAP1 | c.1474_1475del (p.Ser492TyrfsTer6) c.1420_1421del (p.Ser474TyrfsTer6) c.119+130_119+131del | ClinVar dbSNP |
| 3 | g.52403671_52403674del | CA2695197915 | BAP1 | c.1472_1475del (p.Glu491ValfsTer?) c.1418_1421del (p.Glu473ValfsTer?) c.119+128_119+131del | ClinVar |
| 3 | g.52403671T>A | CA353101103 | BAP1 | c.1474A>T (p.Ser492Cys) c.1420A>T (p.Ser474Cys) c.119+130A>T | ClinVar dbSNP |
| 3 | g.52403671T>C | CA353101105 | BAP1 | c.1474A>G (p.Ser492Gly) c.1420A>G (p.Ser474Gly) c.119+130A>G | |
| 3 | g.52403671T>G | CA353101114 | BAP1 | c.1474A>C (p.Ser492Arg) c.1420A>C (p.Ser474Arg) c.119+130A>C | |
| 3 | g.52403671T= | CA1364836777 | BAP1 | c.1474A= (p.Ser492=) c.1420A= (p.Ser474=) c.119+130A= | |
| 3 | g.52403672C>A | CA353101119 | BAP1 | c.1473G>T (p.Glu491Asp) c.1419G>T (p.Glu473Asp) c.119+129G>T | |
| 3 | g.52403672C>G | CA353101126 | BAP1 | c.1473G>C (p.Glu491Asp) c.1419G>C (p.Glu473Asp) c.119+129G>C | |
| 3 | g.52403672C>T | CA433886257 | BAP1 | c.1473G>A (p.Glu491=) c.1419G>A (p.Glu473=) c.119+129G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403673T>A | CA353101130 | BAP1 | c.1472A>T (p.Glu491Val) c.1418A>T (p.Glu473Val) c.119+128A>T | |
| 3 | g.52403673T>C | CA353101132 | BAP1 | c.1472A>G (p.Glu491Gly) c.1418A>G (p.Glu473Gly) c.119+128A>G | |
| 3 | g.52403673T>G | CA353101137 | BAP1 | c.1472A>C (p.Glu491Ala) c.1418A>C (p.Glu473Ala) c.119+128A>C | |
| 3 | g.52403673_52403674insAAT | CA2586972744 | BAP1 | c.1472_1473insTTA (p.Glu491AspfsTer2) c.1418_1419insTTA (p.Glu473AspfsTer2) c.119+128_119+129insTTA | |
| 3 | g.52403674C>A | CA353101141 | BAP1 | c.1471G>T (p.Glu491Ter) c.1417G>T (p.Glu473Ter) c.119+127G>T | dbSNP |
| 3 | g.52403674C>G | CA353101143 | BAP1 | c.1471G>C (p.Glu491Gln) c.1417G>C (p.Glu473Gln) c.119+127G>C | |
| 3 | g.52403674C>T | CA353101144 | BAP1 | c.1471G>A (p.Glu491Lys) c.1417G>A (p.Glu473Lys) c.119+127G>A | |
| 3 | g.52403674_52403675insT | CA2499216938 | BAP1 | c.1470_1471insA (p.Glu491ArgfsTer8) c.1416_1417insA (p.Glu473ArgfsTer8) c.119+126_119+127insA | ClinVar dbSNP |
| 3 | g.52403675A>C | CA353101145 | BAP1 | c.1470T>G (p.Asn490Lys) c.1416T>G (p.Asn472Lys) c.119+126T>G | |
| 3 | g.52403675A>G | CA433886258 | BAP1 | c.1470T>C (p.Asn490=) c.1416T>C (p.Asn472=) c.119+126T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403675A>T | CA353101146 | BAP1 | c.1470T>A (p.Asn490Lys) c.1416T>A (p.Asn472Lys) c.119+126T>A | |
| 3 | g.52403676T>A | CA353101150 | BAP1 | c.1469A>T (p.Asn490Ile) c.1415A>T (p.Asn472Ile) c.119+125A>T | |
| 3 | g.52403676T>C | CA74740760 | BAP1 | c.1469A>G (p.Asn490Ser) c.1415A>G (p.Asn472Ser) c.119+125A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403676T>G | CA353101155 | BAP1 | c.1469A>C (p.Asn490Thr) c.1415A>C (p.Asn472Thr) c.119+125A>C | |
| 3 | g.52403676T= | CA1364836779 | BAP1 | c.1469A= (p.Asn490=) c.1415A= (p.Asn472=) c.119+125A= | |
| 3 | g.52403677del | CA645529911 | BAP1 | c.1469del (p.Asn490MetfsTer?) c.1415del (p.Asn472MetfsTer?) c.119+125del | COSMIC |
| 3 | g.52403677T>A | CA353101157 | BAP1 | c.1468A>T (p.Asn490Tyr) c.1414A>T (p.Asn472Tyr) c.119+124A>T | |
| 3 | g.52403677T>C | CA353101159 | BAP1 | c.1468A>G (p.Asn490Asp) c.1414A>G (p.Asn472Asp) c.119+124A>G | |
| 3 | g.52403677T>G | CA353101162 | BAP1 | c.1468A>C (p.Asn490His) c.1414A>C (p.Asn472His) c.119+124A>C | |
| 3 | g.52403678G>A | CA433886263 | BAP1 | c.1467C>T (p.Ser489=) c.1413C>T (p.Ser471=) c.119+123C>T | ClinVar dbSNP |
| 3 | g.52403678G>C | CA353101165 | BAP1 | c.1467C>G (p.Ser489Arg) c.1413C>G (p.Ser471Arg) c.119+123C>G | |
| 3 | g.52403678G>T | CA353101167 | BAP1 | c.1467C>A (p.Ser489Arg) c.1413C>A (p.Ser471Arg) c.119+123C>A | |
| 3 | g.52403679C>A | CA353101170 | BAP1 | c.1466G>T (p.Ser489Ile) c.1412G>T (p.Ser471Ile) c.119+122G>T | |
| 3 | g.52403679C>G | CA353101172 | BAP1 | c.1466G>C (p.Ser489Thr) c.1412G>C (p.Ser471Thr) c.119+122G>C | dbSNP |
| 3 | g.52403679C>T | CA353101175 | BAP1 | c.1466G>A (p.Ser489Asn) c.1412G>A (p.Ser471Asn) c.119+122G>A | |
| 3 | g.52403680T>A | CA353101183 | BAP1 | c.1465A>T (p.Ser489Cys) c.1411A>T (p.Ser471Cys) c.119+121A>T | |
| 3 | g.52403680T>C | CA353101181 | BAP1 | c.1465A>G (p.Ser489Gly) c.1411A>G (p.Ser471Gly) c.119+121A>G | ClinVar gnomAD v4 |
| 3 | g.52403680T>G | CA353101178 | BAP1 | c.1465A>C (p.Ser489Arg) c.1411A>C (p.Ser471Arg) c.119+121A>C | |
| 3 | g.52403680_52403681delinsTG | CA1364836781 | BAP1 | c.1464_1465delinsCA (p.Pro488=) c.1410_1411delinsCA (p.Pro470=) c.119+120_119+121delinsCA | |
| 3 | g.52403681G>A | CA433886264 | BAP1 | c.1464C>T (p.Pro488=) c.1410C>T (p.Pro470=) c.119+120C>T | ClinVar |
| 3 | g.52403681G>C | CA433886265 | BAP1 | c.1464C>G (p.Pro488=) c.1410C>G (p.Pro470=) c.119+120C>G | |
| 3 | g.52403681G= | CA1364836783 | BAP1 | c.1464C= (p.Pro488=) c.1410C= (p.Pro470=) c.119+120C= | |
| 3 | g.52403681G>T | CA2436796 | BAP1 | c.1464C>A (p.Pro488=) c.1410C>A (p.Pro470=) c.119+120C>A | dbSNP ExAC gnomAD v2 |
| 3 | g.52403685del | CA645529912 | BAP1 | c.1464del (p.Ser489AlafsTer?) c.1410del (p.Ser471AlafsTer?) c.119+120del | ClinVar dbSNP COSMIC |
| 3 | g.52403682G>A | CA353101188 | BAP1 | c.1463C>T (p.Pro488Leu) c.1409C>T (p.Pro470Leu) c.119+119C>T | |
| 3 | g.52403682G>C | CA353101190 | BAP1 | c.1463C>G (p.Pro488Arg) c.1409C>G (p.Pro470Arg) c.119+119C>G | |
| 3 | g.52403682G>T | CA353101193 | BAP1 | c.1463C>A (p.Pro488His) c.1409C>A (p.Pro470His) c.119+119C>A | |
| 3 | g.52403682_52403686delinsGGGGT | CA1364836785 | BAP1 | c.1459_1463delinsACCCC (p.Thr487=) c.1405_1409delinsACCCC (p.Thr469=) c.119+115_119+119delinsACCCC | |
| 3 | g.52403683G>A | CA353101196 | BAP1 | c.1462C>T (p.Pro488Ser) c.1408C>T (p.Pro470Ser) c.119+118C>T | ClinVar |
| 3 | g.52403683G>C | CA353101199 | BAP1 | c.1462C>G (p.Pro488Ala) c.1408C>G (p.Pro470Ala) c.119+118C>G | |
| 3 | g.52403683G>T | CA353101202 | BAP1 | c.1462C>A (p.Pro488Thr) c.1408C>A (p.Pro470Thr) c.119+118C>A | dbSNP |
| 3 | g.52403688_52403691del | CA1364836786 | BAP1 | c.1459_1462del (p.Thr487ProfsTer?) c.1405_1408del (p.Thr469ProfsTer?) c.119+115_119+118del | ClinVar dbSNP |
| 3 | g.52403684G>A | CA2436797 | BAP1 | c.1461C>T (p.Thr487=) c.1407C>T (p.Thr469=) c.119+117C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403684G>C | CA433886269 | BAP1 | c.1461C>G (p.Thr487=) c.1407C>G (p.Thr469=) c.119+117C>G | |
| 3 | g.52403684G= | CA1364836788 | BAP1 | c.1461C= (p.Thr487=) c.1407C= (p.Thr469=) c.119+117C= | |
| 3 | g.52403684G>T | CA433886271 | BAP1 | c.1461C>A (p.Thr487=) c.1407C>A (p.Thr469=) c.119+117C>A | ClinVar dbSNP |
| 3 | g.52403685G>A | CA353101207 | BAP1 | c.1460C>T (p.Thr487Ile) c.1406C>T (p.Thr469Ile) c.119+116C>T | ClinVar dbSNP |
| 3 | g.52403685G>C | CA353101209 | BAP1 | c.1460C>G (p.Thr487Ser) c.1406C>G (p.Thr469Ser) c.119+116C>G | |
| 3 | g.52403685G>T | CA353101212 | BAP1 | c.1460C>A (p.Thr487Asn) c.1406C>A (p.Thr469Asn) c.119+116C>A | ClinVar |
| 3 | g.52403686T>A | CA353101220 | BAP1 | c.1459A>T (p.Thr487Ser) c.1405A>T (p.Thr469Ser) c.119+115A>T | |
| 3 | g.52403686T>C | CA353101217 | BAP1 | c.1459A>G (p.Thr487Ala) c.1405A>G (p.Thr469Ala) c.119+115A>G | |
| 3 | g.52403686T>G | CA353101215 | BAP1 | c.1459A>C (p.Thr487Pro) c.1405A>C (p.Thr469Pro) c.119+115A>C | dbSNP |
| 3 | g.52403686T= | CA1364836791 | BAP1 | c.1459A= (p.Thr487=) c.1405A= (p.Thr469=) c.119+115A= | |
| 3 | g.52403687G>A | CA74740768 | BAP1 | c.1458C>T (p.Pro486=) c.1404C>T (p.Pro468=) c.119+114C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403687G>C | CA433886277 | BAP1 | c.1458C>G (p.Pro486=) c.1404C>G (p.Pro468=) c.119+114C>G | |
| 3 | g.52403687G= | CA1364836793 | BAP1 | c.1458C= (p.Pro486=) c.1404C= (p.Pro468=) c.119+114C= | |
| 3 | g.52403687G>T | CA433886278 | BAP1 | c.1458C>A (p.Pro486=) c.1404C>A (p.Pro468=) c.119+114C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403688G>A | CA353101226 | BAP1 | c.1457C>T (p.Pro486Leu) c.1403C>T (p.Pro468Leu) c.119+113C>T | |
| 3 | g.52403688G>C | CA353101227 | BAP1 | c.1457C>G (p.Pro486Arg) c.1403C>G (p.Pro468Arg) c.119+113C>G | |
| 3 | g.52403688G>T | CA353101231 | BAP1 | c.1457C>A (p.Pro486His) c.1403C>A (p.Pro468His) c.119+113C>A | dbSNP |
| 3 | g.52403689G>A | CA353101235 | BAP1 | c.1456C>T (p.Pro486Ser) c.1402C>T (p.Pro468Ser) c.119+112C>T | |
| 3 | g.52403689G>C | CA353101238 | BAP1 | c.1456C>G (p.Pro486Ala) c.1402C>G (p.Pro468Ala) c.119+112C>G | dbSNP |
| 3 | g.52403689G>T | CA353101240 | BAP1 | c.1456C>A (p.Pro486Thr) c.1402C>A (p.Pro468Thr) c.119+112C>A | |
| 3 | g.52403690T>A | CA433886281 | BAP1 | c.1455A>T (p.Ser485=) c.1401A>T (p.Ser467=) c.119+111A>T | ClinVar |
| 3 | g.52403690T>C | CA433886282 | BAP1 | c.1455A>G (p.Ser485=) c.1401A>G (p.Ser467=) c.119+111A>G | ClinVar |
| 3 | g.52403690T>G | CA433886284 | BAP1 | c.1455A>C (p.Ser485=) c.1401A>C (p.Ser467=) c.119+111A>C | dbSNP |
| 3 | g.52403690T= | CA1364836795 | BAP1 | c.1455A= (p.Ser485=) c.1401A= (p.Ser467=) c.119+111A= | |
| 3 | g.52403691G>A | CA353101243 | BAP1 | c.1454C>T (p.Ser485Leu) c.1400C>T (p.Ser467Leu) c.119+110C>T | dbSNP |
| 3 | g.52403691G>C | CA353101245 | BAP1 | c.1454C>G (p.Ser485Ter) c.1400C>G (p.Ser467Ter) c.119+110C>G | |
| 3 | g.52403691G>T | CA353101247 | BAP1 | c.1454C>A (p.Ser485Ter) c.1400C>A (p.Ser467Ter) c.119+110C>A | |
| 3 | g.52403692A>C | CA353101251 | BAP1 | c.1453T>G (p.Ser485Ala) c.1399T>G (p.Ser467Ala) c.119+109T>G | |
| 3 | g.52403692A>G | CA353101254 | BAP1 | c.1453T>C (p.Ser485Pro) c.1399T>C (p.Ser467Pro) c.119+109T>C | dbSNP |
| 3 | g.52403692A>T | CA353101257 | BAP1 | c.1453T>A (p.Ser485Thr) c.1399T>A (p.Ser467Thr) c.119+109T>A | |
| 3 | g.52403693G>A | CA433886286 | BAP1 | c.1452C>T (p.Pro484=) c.1398C>T (p.Pro466=) c.119+108C>T | |
| 3 | g.52403693G>C | CA433886287 | BAP1 | c.1452C>G (p.Pro484=) c.1398C>G (p.Pro466=) c.119+108C>G | |
| 3 | g.52403693G>T | CA433886289 | BAP1 | c.1452C>A (p.Pro484=) c.1398C>A (p.Pro466=) c.119+108C>A | |
| 3 | g.52403694G>A | CA353101263 | BAP1 | c.1451C>T (p.Pro484Leu) c.1397C>T (p.Pro466Leu) c.119+107C>T | dbSNP |
| 3 | g.52403694G>C | CA353101265 | BAP1 | c.1451C>G (p.Pro484Arg) c.1397C>G (p.Pro466Arg) c.119+107C>G | |
| 3 | g.52403694G= | CA1364836797 | BAP1 | c.1451C= (p.Pro484=) c.1397C= (p.Pro466=) c.119+107C= | |
| 3 | g.52403694G>T | CA353101260 | BAP1 | c.1451C>A (p.Pro484His) c.1397C>A (p.Pro466His) c.119+107C>A | |
| 3 | g.52403695G>A | CA353101268 | BAP1 | c.1450C>T (p.Pro484Ser) c.1396C>T (p.Pro466Ser) c.119+106C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403695G>C | CA353101266 | BAP1 | c.1450C>G (p.Pro484Ala) c.1396C>G (p.Pro466Ala) c.119+106C>G | ClinVar |
| 3 | g.52403695G= | CA1364836799 | BAP1 | c.1450C= (p.Pro484=) c.1396C= (p.Pro466=) c.119+106C= | |
| 3 | g.52403695G>T | CA353101267 | BAP1 | c.1450C>A (p.Pro484Thr) c.1396C>A (p.Pro466Thr) c.119+106C>A | |
| 3 | g.52403696C>A | CA353101270 | BAP1 | c.1449G>T (p.Gln483His) c.1395G>T (p.Gln465His) c.119+105G>T | |
| 3 | g.52403696C>G | CA353101272 | BAP1 | c.1449G>C (p.Gln483His) c.1395G>C (p.Gln465His) c.119+105G>C | dbSNP |
| 3 | g.52403696C>T | CA433886291 | BAP1 | c.1449G>A (p.Gln483=) c.1395G>A (p.Gln465=) c.119+105G>A | ClinVar dbSNP |
| 3 | g.52403700_52403716dup | CA1139658116 | BAP1 | c.1433_1449dup (p.Pro484CysfsTer?) c.1379_1395dup (p.Pro466CysfsTer?) c.119+89_119+105dup | ClinVar dbSNP |
| 3 | g.52403697T>A | CA353101274 | BAP1 | c.1448A>T (p.Gln483Leu) c.1394A>T (p.Gln465Leu) c.119+104A>T | |
| 3 | g.52403697T>C | CA353101277 | BAP1 | c.1448A>G (p.Gln483Arg) c.1394A>G (p.Gln465Arg) c.119+104A>G | ClinVar |
| 3 | g.52403697T>G | CA353101278 | BAP1 | c.1448A>C (p.Gln483Pro) c.1394A>C (p.Gln465Pro) c.119+104A>C | |
| 3 | g.52403698G>A | CA353101279 | BAP1 | c.1447C>T (p.Gln483Ter) c.1393C>T (p.Gln465Ter) c.119+103C>T | dbSNP |
| 3 | g.52403698G>C | CA353101281 | BAP1 | c.1447C>G (p.Gln483Glu) c.1393C>G (p.Gln465Glu) c.119+103C>G | |
| 3 | g.52403698G= | CA1364836803 | BAP1 | c.1447C= (p.Gln483=) c.1393C= (p.Gln465=) c.119+103C= | |
| 3 | g.52403698G>T | CA353101280 | BAP1 | c.1447C>A (p.Gln483Lys) c.1393C>A (p.Gln465Lys) c.119+103C>A | |
| 3 | g.52403699C>A | CA433886293 | BAP1 | c.1446G>T (p.Ser482=) c.1392G>T (p.Ser464=) c.119+102G>T | ClinVar |
| 3 | g.52403699C= | CA1364836804 | BAP1 | c.1446G= (p.Ser482=) c.1392G= (p.Ser464=) c.119+102G= | |
| 3 | g.52403699C>G | CA433886294 | BAP1 | c.1446G>C (p.Ser482=) c.1392G>C (p.Ser464=) c.119+102G>C | |
| 3 | g.52403699C>T | CA2436798 | BAP1 | c.1446G>A (p.Ser482=) c.1392G>A (p.Ser464=) c.119+102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403700G>A | CA2436799 | BAP1 | c.1445C>T (p.Ser482Leu) c.1391C>T (p.Ser464Leu) c.119+101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.52403700G>C | CA353101284 | BAP1 | c.1445C>G (p.Ser482Trp) c.1391C>G (p.Ser464Trp) c.119+101C>G | gnomAD v4 |
| 3 | g.52403700G= | CA1364836807 | BAP1 | c.1445C= (p.Ser482=) c.1391C= (p.Ser464=) c.119+101C= | |
| 3 | g.52403700G>T | CA353101290 | BAP1 | c.1445C>A (p.Ser482Ter) c.1391C>A (p.Ser464Ter) c.119+101C>A | |
| 3 | g.52403701A= | CA1364836809 | BAP1 | c.1444T= (p.Ser482=) c.1390T= (p.Ser464=) c.119+100T= | |
| 3 | g.52403701A>C | CA353101292 | BAP1 | c.1444T>G (p.Ser482Ala) c.1390T>G (p.Ser464Ala) c.119+100T>G | ClinVar dbSNP |
| 3 | g.52403701A>G | CA353101295 | BAP1 | c.1444T>C (p.Ser482Pro) c.1390T>C (p.Ser464Pro) c.119+100T>C | |
| 3 | g.52403701A>T | CA353101293 | BAP1 | c.1444T>A (p.Ser482Thr) c.1390T>A (p.Ser464Thr) c.119+100T>A | |
| 3 | g.52403702G>A | CA433886295 | BAP1 | c.1443C>T (p.His481=) c.1389C>T (p.His463=) c.119+99C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403702G>C | CA353101298 | BAP1 | c.1443C>G (p.His481Gln) c.1389C>G (p.His463Gln) c.119+99C>G | |
| 3 | g.52403702G= | CA1364836810 | BAP1 | c.1443C= (p.His481=) c.1389C= (p.His463=) c.119+99C= | |
| 3 | g.52403702G>T | CA353101302 | BAP1 | c.1443C>A (p.His481Gln) c.1389C>A (p.His463Gln) c.119+99C>A | |
| 3 | g.52403703T>A | CA353101305 | BAP1 | c.1442A>T (p.His481Leu) c.1388A>T (p.His463Leu) c.119+98A>T n.870A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403703T>C | CA2436800 | BAP1 | c.1442A>G (p.His481Arg) c.1388A>G (p.His463Arg) c.119+98A>G n.870A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403703T>G | CA353101308 | BAP1 | c.1442A>C (p.His481Pro) c.1388A>C (p.His463Pro) c.119+98A>C n.870A>C | |
| 3 | g.52403703T= | CA1364836813 | BAP1 | c.1442A= (p.His481=) c.1388A= (p.His463=) c.119+98A= n.870A= | |
| 3 | g.52403703dup | CA645529913 | BAP1 | c.1442dup (p.His481GlnfsTer11) c.1388dup (p.His463GlnfsTer11) c.119+98dup | COSMIC |
| 3 | g.52403704G>A | CA353101313 | BAP1 | c.1441C>T (p.His481Tyr) c.1387C>T (p.His463Tyr) c.119+97C>T n.869C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.52403704G>C | CA353101315 | BAP1 | c.1441C>G (p.His481Asp) c.1387C>G (p.His463Asp) c.119+97C>G n.869C>G | |
| 3 | g.52403704G= | CA1364836818 | BAP1 | c.1441C= (p.His481=) c.1387C= (p.His463=) c.119+97C= n.869C= | |
| 3 | g.52403704G>T | CA2436801 | BAP1 | c.1441C>A (p.His481Asn) c.1387C>A (p.His463Asn) c.119+97C>A n.869C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403704_52403705insA | CA433886298 | BAP1 | c.1440_1441insT (p.His481SerfsTer11) c.1386_1387insT (p.His463SerfsTer11) c.119+96_119+97insT n.868_869insT | |
| 3 | g.52403705T>A | CA433886300 | BAP1 | c.1440A>T (p.Thr480=) c.1386A>T (p.Thr462=) c.119+96A>T n.868A>T | ClinVar |
| 3 | g.52403705T>C | CA433886301 | BAP1 | c.1440A>G (p.Thr480=) c.1386A>G (p.Thr462=) c.119+96A>G n.868A>G | gnomAD v4 |
| 3 | g.52403705T>G | CA433886299 | BAP1 | c.1440A>C (p.Thr480=) c.1386A>C (p.Thr462=) c.119+96A>C n.868A>C | |
| 3 | g.52403706del | CA2582342860 | BAP1 | c.1439del (p.Thr480AsnfsTer?) c.1385del (p.Thr462AsnfsTer?) c.119+95del n.867del | ClinVar |
| 3 | g.52403706G>A | CA2436802 | BAP1 | c.1439C>T (p.Thr480Ile) c.1385C>T (p.Thr462Ile) c.119+95C>T n.867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403706G>C | CA353101319 | BAP1 | c.1439C>G (p.Thr480Arg) c.1385C>G (p.Thr462Arg) c.119+95C>G n.867C>G | ClinVar dbSNP |
| 3 | g.52403706G= | CA1364836824 | BAP1 | c.1439C= (p.Thr480=) c.1385C= (p.Thr462=) c.119+95C= n.867C= | |
| 3 | g.52403706G>T | CA353101322 | BAP1 | c.1439C>A (p.Thr480Lys) c.1385C>A (p.Thr462Lys) c.119+95C>A n.867C>A | |
| 3 | g.52403707T>A | CA353101328 | BAP1 | c.1438A>T (p.Thr480Ser) c.1384A>T (p.Thr462Ser) c.119+94A>T n.866A>T | dbSNP |
| 3 | g.52403707T>C | CA2436803 | BAP1 | c.1438A>G (p.Thr480Ala) c.1384A>G (p.Thr462Ala) c.119+94A>G n.866A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.52403707T>G | CA353101324 | BAP1 | c.1438A>C (p.Thr480Pro) c.1384A>C (p.Thr462Pro) c.119+94A>C n.866A>C | dbSNP |
| 3 | g.52403707T= | CA1364836827 | BAP1 | c.1438A= (p.Thr480=) c.1384A= (p.Thr462=) c.119+94A= n.866A= | |
| 3 | g.52403707_52403708delinsTG | CA1364836829 | BAP1 | c.1437_1438delinsCA (p.Pro479=) c.1383_1384delinsCA (p.Pro461=) c.119+93_119+94delinsCA n.865_866delinsCA | |
| 3 | g.52403707_52403710delinsTGGG | CA1364836831 | BAP1 | c.1435_1438delinsCCCA (p.Pro479=) c.1381_1384delinsCCCA (p.Pro461=) c.119+91_119+94delinsCCCA n.863_866delinsCCCA | |
| 3 | g.52403708G>A | CA433886307 | BAP1 | c.1437C>T (p.Pro479=) c.1383C>T (p.Pro461=) c.119+93C>T n.865C>T | ClinVar |
| 3 | g.52403708G>C | CA433886308 | BAP1 | c.1437C>G (p.Pro479=) c.1383C>G (p.Pro461=) c.119+93C>G n.865C>G | |
| 3 | g.52403708G>T | CA433886309 | BAP1 | c.1437C>A (p.Pro479=) c.1383C>A (p.Pro461=) c.119+93C>A n.865C>A | |
| 3 | g.52403708_52403710del | CA1139658117 | BAP1 | c.1435_1437del (p.Pro479del) c.1381_1383del (p.Pro461del) c.119+91_119+93del n.863_865del | ClinVar dbSNP |
| 3 | g.52403710del | CA74740788 | BAP1 | c.1437del (p.Thr480HisfsTer?) c.1383del (p.Thr462HisfsTer?) c.119+93del n.865del | ClinVar dbSNP |
| 3 | g.52403709G>A | CA353101330 | BAP1 | c.1436C>T (p.Pro479Leu) c.1382C>T (p.Pro461Leu) c.119+92C>T n.864C>T | |
| 3 | g.52403709G>C | CA353101332 | BAP1 | c.1436C>G (p.Pro479Arg) c.1382C>G (p.Pro461Arg) c.119+92C>G n.864C>G | |
| 3 | g.52403709G>T | CA353101335 | BAP1 | c.1436C>A (p.Pro479His) c.1382C>A (p.Pro461His) c.119+92C>A n.864C>A | |
| 3 | g.52403709_52403711del | CA2569805520 | BAP1 | c.1434_1436del (p.Pro479del) c.1380_1382del (p.Pro461del) c.119+90_119+92del n.862_864del | |
| 3 | g.52403710G>A | CA353101338 | BAP1 | c.1435C>T (p.Pro479Ser) c.1381C>T (p.Pro461Ser) c.119+91C>T n.863C>T | ClinVar dbSNP |
| 3 | g.52403710G>C | CA353101341 | BAP1 | c.1435C>G (p.Pro479Ala) c.1381C>G (p.Pro461Ala) c.119+91C>G n.863C>G | dbSNP |
| 3 | g.52403710G= | CA1364836838 | BAP1 | c.1435C= (p.Pro479=) c.1381C= (p.Pro461=) c.119+91C= n.863C= | |
| 3 | g.52403710G>T | CA353101344 | BAP1 | c.1435C>A (p.Pro479Thr) c.1381C>A (p.Pro461Thr) c.119+91C>A n.863C>A | |
| 3 | g.52403711C>A | CA433886316 | BAP1 | c.1434G>T (p.Val478=) c.1380G>T (p.Val460=) c.119+90G>T n.862G>T | |
| 3 | g.52403711C= | CA1364836843 | BAP1 | c.1434G= (p.Val478=) c.1380G= (p.Val460=) c.119+90G= n.862G= | |
| 3 | g.52403711C>G | CA433886317 | BAP1 | c.1434G>C (p.Val478=) c.1380G>C (p.Val460=) c.119+90G>C n.862G>C | |
| 3 | g.52403711C>T | CA2436804 | BAP1 | c.1434G>A (p.Val478=) c.1380G>A (p.Val460=) c.119+90G>A n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403714_52403719del | CA2580616484 | BAP1 | c.1429_1434del (p.Ala477_Val478del) c.1375_1380del (p.Ala459_Val460del) c.119+85_119+90del n.857_862del | ClinVar |
| 3 | g.52403712A>C | CA353101349 | BAP1 | c.1433T>G (p.Val478Gly) c.1379T>G (p.Val460Gly) c.119+89T>G n.861T>G | dbSNP |
| 3 | g.52403712A>G | CA353101352 | BAP1 | c.1433T>C (p.Val478Ala) c.1379T>C (p.Val460Ala) c.119+89T>C n.861T>C | |
| 3 | g.52403712A>T | CA353101355 | BAP1 | c.1433T>A (p.Val478Glu) c.1379T>A (p.Val460Glu) c.119+89T>A n.861T>A | gnomAD v4 |
| 3 | g.52403713C>A | CA353101360 | BAP1 | c.1432G>T (p.Val478Leu) c.1378G>T (p.Val460Leu) c.119+88G>T n.860G>T | |
| 3 | g.52403713C= | CA1364836848 | BAP1 | c.1432G= (p.Val478=) c.1378G= (p.Val460=) c.119+88G= n.860G= | |
| 3 | g.52403713C>G | CA353101362 | BAP1 | c.1432G>C (p.Val478Leu) c.1378G>C (p.Val460Leu) c.119+88G>C n.860G>C | dbSNP |
| 3 | g.52403713C>T | CA353101364 | BAP1 | c.1432G>A (p.Val478Met) c.1378G>A (p.Val460Met) c.119+88G>A n.860G>A | ClinVar dbSNP |
| 3 | g.52403713_52403714insAA | CA2520718670 | BAP1 | c.1431_1432insTT (p.Val478LeufsTer?) c.1377_1378insTT (p.Val460LeufsTer?) c.119+87_119+88insTT n.859_860insTT | |
| 3 | g.52403714T>A | CA433886321 | BAP1 | c.1431A>T (p.Ala477=) c.1377A>T (p.Ala459=) c.119+87A>T n.859A>T | |
| 3 | g.52403714T>C | CA433886323 | BAP1 | c.1431A>G (p.Ala477=) c.1377A>G (p.Ala459=) c.119+87A>G n.859A>G | |
| 3 | g.52403714T>G | CA433886322 | BAP1 | c.1431A>C (p.Ala477=) c.1377A>C (p.Ala459=) c.119+87A>C n.859A>C | |
| 3 | g.52403715G>A | CA353101373 | BAP1 | c.1430C>T (p.Ala477Val) c.1376C>T (p.Ala459Val) c.119+86C>T n.858C>T | dbSNP gnomAD v4 |
| 3 | g.52403715G>C | CA353101369 | BAP1 | c.1430C>G (p.Ala477Gly) c.1376C>G (p.Ala459Gly) c.119+86C>G n.858C>G | |
| 3 | g.52403715G>T | CA353101366 | BAP1 | c.1430C>A (p.Ala477Glu) c.1376C>A (p.Ala459Glu) c.119+86C>A n.858C>A | |
| 3 | g.52403715dup | CA2512787969 | BAP1 | c.1430dup (p.Val478SerfsTer14) c.1376dup (p.Val460SerfsTer14) c.119+86dup n.858dup | |
| 3 | g.52403716C>A | CA353101377 | BAP1 | c.1429G>T (p.Ala477Ser) c.1375G>T (p.Ala459Ser) c.119+85G>T n.857G>T | |
| 3 | g.52403716C>G | CA353101379 | BAP1 | c.1429G>C (p.Ala477Pro) c.1375G>C (p.Ala459Pro) c.119+85G>C n.857G>C | |
| 3 | g.52403716C>T | CA353101384 | BAP1 | c.1429G>A (p.Ala477Thr) c.1375G>A (p.Ala459Thr) c.119+85G>A n.857G>A | dbSNP |
| 3 | g.52403717C>A | CA433886327 | BAP1 | c.1428G>T (p.Val476=) c.1374G>T (p.Val458=) c.119+84G>T n.856G>T | |
| 3 | g.52403717C>G | CA433886328 | BAP1 | c.1428G>C (p.Val476=) c.1374G>C (p.Val458=) c.119+84G>C n.856G>C | dbSNP |
| 3 | g.52403717C>T | CA433886329 | BAP1 | c.1428G>A (p.Val476=) c.1374G>A (p.Val458=) c.119+84G>A n.856G>A | gnomAD v4 |
| 3 | g.52403718A= | CA1364836851 | BAP1 | c.1427T= (p.Val476=) c.1373T= (p.Val458=) c.119+83T= n.855T= | |
| 3 | g.52403718A>C | CA353101387 | BAP1 | c.1427T>G (p.Val476Gly) c.1373T>G (p.Val458Gly) c.119+83T>G n.855T>G | |
| 3 | g.52403718A>G | CA2436805 | BAP1 | c.1427T>C (p.Val476Ala) c.1373T>C (p.Val458Ala) c.119+83T>C n.855T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403718A>T | CA353101390 | BAP1 | c.1427T>A (p.Val476Glu) c.1373T>A (p.Val458Glu) c.119+83T>A n.855T>A | dbSNP |
| 3 | g.52403719C>A | CA353101394 | BAP1 | c.1426G>T (p.Val476Leu) c.1372G>T (p.Val458Leu) c.119+82G>T n.854G>T | |
| 3 | g.52403719C= | CA1364836858 | BAP1 | c.1426G= (p.Val476=) c.1372G= (p.Val458=) c.119+82G= n.854G= | |
| 3 | g.52403719C>G | CA353101401 | BAP1 | c.1426G>C (p.Val476Leu) c.1372G>C (p.Val458Leu) c.119+82G>C n.854G>C | |
| 3 | g.52403719C>T | CA353101404 | BAP1 | c.1426G>A (p.Val476Met) c.1372G>A (p.Val458Met) c.119+82G>A n.854G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403720A>C | CA433886330 | BAP1 | c.1425T>G (p.Ala475=) c.1371T>G (p.Ala457=) c.119+81T>G n.853T>G | |
| 3 | g.52403720A>G | CA433886331 | BAP1 | c.1425T>C (p.Ala475=) c.1371T>C (p.Ala457=) c.119+81T>C n.853T>C | |
| 3 | g.52403720A>T | CA433886332 | BAP1 | c.1425T>A (p.Ala475=) c.1371T>A (p.Ala457=) c.119+81T>A n.853T>A | |
| 3 | g.52403721G>A | CA353101408 | BAP1 | c.1424C>T (p.Ala475Val) c.1370C>T (p.Ala457Val) c.119+80C>T n.852C>T | |
| 3 | g.52403721G>C | CA353101410 | BAP1 | c.1424C>G (p.Ala475Gly) c.1370C>G (p.Ala457Gly) c.119+80C>G n.852C>G | |
| 3 | g.52403721G>T | CA353101413 | BAP1 | c.1424C>A (p.Ala475Asp) c.1370C>A (p.Ala457Asp) c.119+80C>A n.852C>A | |
| 3 | g.52403722C>A | CA353101427 | BAP1 | c.1423G>T (p.Ala475Ser) c.1369G>T (p.Ala457Ser) c.119+79G>T n.851G>T | dbSNP |
| 3 | g.52403722C>G | CA353101426 | BAP1 | c.1423G>C (p.Ala475Pro) c.1369G>C (p.Ala457Pro) c.119+79G>C n.851G>C | dbSNP |
| 3 | g.52403722C>T | CA353101425 | BAP1 | c.1423G>A (p.Ala475Thr) c.1369G>A (p.Ala457Thr) c.119+79G>A n.851G>A | dbSNP |
| 3 | g.52403723_52403731del | CA2560251986 | BAP1 | c.1415_1423del (p.Gly472_Pro474del) c.1361_1369del (p.Gly454_Pro456del) c.119+71_119+79del n.843_851del | |
| 3 | g.52403723C>A | CA433886333 | BAP1 | c.1422G>T (p.Pro474=) c.1368G>T (p.Pro456=) c.119+78G>T n.850G>T | |
| 3 | g.52403723C= | CA1364836864 | BAP1 | c.1422G= (p.Pro474=) c.1368G= (p.Pro456=) c.119+78G= n.850G= | |
| 3 | g.52403723C>G | CA433886334 | BAP1 | c.1422G>C (p.Pro474=) c.1368G>C (p.Pro456=) c.119+78G>C n.850G>C | |
| 3 | g.52403723C>T | CA2436806 | BAP1 | c.1422G>A (p.Pro474=) c.1368G>A (p.Pro456=) c.119+78G>A n.850G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403724G>A | CA2436807 | BAP1 | c.1421C>T (p.Pro474Leu) c.1367C>T (p.Pro456Leu) c.119+77C>T n.849C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403724G>C | CA353101435 | BAP1 | c.1421C>G (p.Pro474Arg) c.1367C>G (p.Pro456Arg) c.119+77C>G n.849C>G | ClinVar gnomAD v4 |
| 3 | g.52403724G= | CA1364836873 | BAP1 | c.1421C= (p.Pro474=) c.1367C= (p.Pro456=) c.119+77C= n.849C= | |
| 3 | g.52403724G>T | CA353101439 | BAP1 | c.1421C>A (p.Pro474Gln) c.1367C>A (p.Pro456Gln) c.119+77C>A n.849C>A | |
| 3 | g.52403728_52403756del | CA2586972745 | BAP1 | c.1393_1421del (p.Ile465GlyfsTer17) c.1339_1367del (p.Ile447GlyfsTer17) c.119+49_119+77del n.821_849del | |
| 3 | g.52403725G>A | CA353101443 | BAP1 | c.1420C>T (p.Pro474Ser) c.1366C>T (p.Pro456Ser) c.119+76C>T n.848C>T | |
| 3 | g.52403725G>C | CA353101451 | BAP1 | c.1420C>G (p.Pro474Ala) c.1366C>G (p.Pro456Ala) c.119+76C>G n.848C>G | |
| 3 | g.52403725G>T | CA353101445 | BAP1 | c.1420C>A (p.Pro474Thr) c.1366C>A (p.Pro456Thr) c.119+76C>A n.848C>A | |
| 3 | g.52403726A= | CA1364836880 | BAP1 | c.1419T= (p.Ser473=) c.1365T= (p.Ser455=) c.119+75T= n.847T= | |
| 3 | g.52403726A>C | CA353101453 | BAP1 | c.1419T>G (p.Ser473Arg) c.1365T>G (p.Ser455Arg) c.119+75T>G n.847T>G | ClinVar dbSNP |
| 3 | g.52403726A>G | CA433886335 | BAP1 | c.1419T>C (p.Ser473=) c.1365T>C (p.Ser455=) c.119+75T>C n.847T>C | dbSNP |
| 3 | g.52403726A>T | CA353101456 | BAP1 | c.1419T>A (p.Ser473Arg) c.1365T>A (p.Ser455Arg) c.119+75T>A n.847T>A | |
| 3 | g.52403727C>A | CA353101459 | BAP1 | c.1418G>T (p.Ser473Ile) c.1364G>T (p.Ser455Ile) c.119+74G>T n.846G>T | |
| 3 | g.52403727C= | CA1364836886 | BAP1 | c.1418G= (p.Ser473=) c.1364G= (p.Ser455=) c.119+74G= n.846G= | |
| 3 | g.52403727C>G | CA353101461 | BAP1 | c.1418G>C (p.Ser473Thr) c.1364G>C (p.Ser455Thr) c.119+74G>C n.846G>C | |
| 3 | g.52403727C>T | CA74740819 | BAP1 | c.1418G>A (p.Ser473Asn) c.1364G>A (p.Ser455Asn) c.119+74G>A n.846G>A | dbSNP |
| 3 | g.52403728T>A | CA353101465 | BAP1 | c.1417A>T (p.Ser473Cys) c.1363A>T (p.Ser455Cys) c.119+73A>T n.845A>T | ClinVar dbSNP |
| 3 | g.52403728T>C | CA2436808 | BAP1 | c.1417A>G (p.Ser473Gly) c.1363A>G (p.Ser455Gly) c.119+73A>G n.845A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403728T>G | CA353101469 | BAP1 | c.1417A>C (p.Ser473Arg) c.1363A>C (p.Ser455Arg) c.119+73A>C n.845A>C | |
| 3 | g.52403728T= | CA1364836890 | BAP1 | c.1417A= (p.Ser473=) c.1363A= (p.Ser455=) c.119+73A= n.845A= | |
| 3 | g.52403728_52403729delinsTC | CA1364836892 | BAP1 | c.1416_1417delinsGA (p.Gly472=) c.1362_1363delinsGA (p.Gly454=) c.119+72_119+73delinsGA n.844_845delinsGA | |
| 3 | g.52403729C>A | CA433886336 | BAP1 | c.1416G>T (p.Gly472=) c.1362G>T (p.Gly454=) c.119+72G>T n.844G>T | ClinVar |
| 3 | g.52403729C= | CA1364836904 | BAP1 | c.1416G= (p.Gly472=) c.1362G= (p.Gly454=) c.119+72G= n.844G= | |
| 3 | g.52403729C>G | CA433886337 | BAP1 | c.1416G>C (p.Gly472=) c.1362G>C (p.Gly454=) c.119+72G>C n.844G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403729C>T | CA2436809 | BAP1 | c.1416G>A (p.Gly472=) c.1362G>A (p.Gly454=) c.119+72G>A n.844G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403731del | CA16611337 | BAP1 | c.1416del (p.Ser473ValfsTer?) c.1362del (p.Ser455ValfsTer?) c.119+72del n.844del | ClinVar dbSNP |
| 3 | g.52403730C>A | CA353101481 | BAP1 | c.1415G>T (p.Gly472Val) c.1361G>T (p.Gly454Val) c.119+71G>T n.843G>T | dbSNP |
| 3 | g.52403730C>G | CA353101478 | BAP1 | c.1415G>C (p.Gly472Ala) c.1361G>C (p.Gly454Ala) c.119+71G>C n.843G>C | |
| 3 | g.52403730C>T | CA353101476 | BAP1 | c.1415G>A (p.Gly472Glu) c.1361G>A (p.Gly454Glu) c.119+71G>A n.843G>A |