Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52550771T>GCA433768040PBRM1,UQCC5c.4701A>C (p.Pro1567=)
c.4656A>C (p.Pro1552=)
c.4335A>C (p.Pro1445=)
c.4395A>C (p.Pro1465=)
c.4491A>C (p.Pro1497=)
c.4545A>C (p.Pro1515=)
c.4380A>C (p.Pro1460=)
c.4416A>C (p.Pro1472=)
c.*1705A>C (n.*1705A>C)
c.151+13865T>G (n.151+13865T>G)
c.4755A>C (p.Pro1585=)
c.4764A>C (p.Pro1588=)
c.4761A>C (p.Pro1587=)
c.4719A>C (p.Pro1573=)
c.4689A>C (p.Pro1563=)
c.4668A>C (p.Pro1556=)
c.4644A>C (p.Pro1548=)
c.4608A>C (p.Pro1536=)
c.4599A>C (p.Pro1533=)
c.4554A>C (p.Pro1518=)
c.4551A>C (p.Pro1517=)
c.4479A>C (p.Pro1493=)
c.4458A>C (p.Pro1486=)
c.4443A>C (p.Pro1481=)
c.4398A>C (p.Pro1466=)
n.5328A>C
c.4440A>C (p.Pro1480=)
c.4434A>C (p.Pro1478=)
c.4323A>C (p.Pro1441=)
c.4563A>C (p.Pro1521=)
c.4389A>C (p.Pro1463=)
c.4386A>C (p.Pro1462=)
c.4368A>C (p.Pro1456=)
c.4338A>C (p.Pro1446=)
c.4791A>C (p.Pro1597=)
c.4788A>C (p.Pro1596=)
c.4782A>C (p.Pro1594=)
c.4752A>C (p.Pro1584=)
c.4746A>C (p.Pro1582=)
c.4743A>C (p.Pro1581=)
c.4728A>C (p.Pro1576=)
c.4716A>C (p.Pro1572=)
c.4710A>C (p.Pro1570=)
c.4695A>C (p.Pro1565=)
c.4635A>C (p.Pro1545=)
c.4626A>C (p.Pro1542=)
n.5708A>C
c.4500A>C (p.Pro1500=)
c.4488A>C (p.Pro1496=)
c.4332A>C (p.Pro1444=)
c.4299A>C (p.Pro1433=)
c.4512A>C (p.Pro1504=)
c.4497A>C (p.Pro1499=)
c.4260A>C (p.Pro1420=)
n.4803A>C
 dbSNP gnomAD v4
3g.52550771T>CCA2443930PBRM1,UQCC5c.4701A>G (p.Pro1567=)
c.4656A>G (p.Pro1552=)
c.4335A>G (p.Pro1445=)
c.4395A>G (p.Pro1465=)
c.4491A>G (p.Pro1497=)
c.4545A>G (p.Pro1515=)
c.4380A>G (p.Pro1460=)
c.4416A>G (p.Pro1472=)
c.*1705A>G (n.*1705A>G)
c.151+13865T>C (n.151+13865T>C)
c.4755A>G (p.Pro1585=)
c.4764A>G (p.Pro1588=)
c.4761A>G (p.Pro1587=)
c.4719A>G (p.Pro1573=)
c.4689A>G (p.Pro1563=)
c.4668A>G (p.Pro1556=)
c.4644A>G (p.Pro1548=)
c.4608A>G (p.Pro1536=)
c.4599A>G (p.Pro1533=)
c.4554A>G (p.Pro1518=)
c.4551A>G (p.Pro1517=)
c.4479A>G (p.Pro1493=)
c.4458A>G (p.Pro1486=)
c.4443A>G (p.Pro1481=)
c.4398A>G (p.Pro1466=)
n.5328A>G
c.4440A>G (p.Pro1480=)
c.4434A>G (p.Pro1478=)
c.4323A>G (p.Pro1441=)
c.4563A>G (p.Pro1521=)
c.4389A>G (p.Pro1463=)
c.4386A>G (p.Pro1462=)
c.4368A>G (p.Pro1456=)
c.4338A>G (p.Pro1446=)
c.4791A>G (p.Pro1597=)
c.4788A>G (p.Pro1596=)
c.4782A>G (p.Pro1594=)
c.4752A>G (p.Pro1584=)
c.4746A>G (p.Pro1582=)
c.4743A>G (p.Pro1581=)
c.4728A>G (p.Pro1576=)
c.4716A>G (p.Pro1572=)
c.4710A>G (p.Pro1570=)
c.4695A>G (p.Pro1565=)
c.4635A>G (p.Pro1545=)
c.4626A>G (p.Pro1542=)
n.5708A>G
c.4500A>G (p.Pro1500=)
c.4488A>G (p.Pro1496=)
c.4332A>G (p.Pro1444=)
c.4299A>G (p.Pro1433=)
c.4512A>G (p.Pro1504=)
c.4497A>G (p.Pro1499=)
c.4260A>G (p.Pro1420=)
n.4803A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52550771T>ACA433768039PBRM1,UQCC5c.4701A>T (p.Pro1567=)
c.4656A>T (p.Pro1552=)
c.4335A>T (p.Pro1445=)
c.4395A>T (p.Pro1465=)
c.4491A>T (p.Pro1497=)
c.4545A>T (p.Pro1515=)
c.4380A>T (p.Pro1460=)
c.4416A>T (p.Pro1472=)
c.*1705A>T (n.*1705A>T)
c.151+13865T>A (n.151+13865T>A)
c.4755A>T (p.Pro1585=)
c.4764A>T (p.Pro1588=)
c.4761A>T (p.Pro1587=)
c.4719A>T (p.Pro1573=)
c.4689A>T (p.Pro1563=)
c.4668A>T (p.Pro1556=)
c.4644A>T (p.Pro1548=)
c.4608A>T (p.Pro1536=)
c.4599A>T (p.Pro1533=)
c.4554A>T (p.Pro1518=)
c.4551A>T (p.Pro1517=)
c.4479A>T (p.Pro1493=)
c.4458A>T (p.Pro1486=)
c.4443A>T (p.Pro1481=)
c.4398A>T (p.Pro1466=)
n.5328A>T
c.4440A>T (p.Pro1480=)
c.4434A>T (p.Pro1478=)
c.4323A>T (p.Pro1441=)
c.4563A>T (p.Pro1521=)
c.4389A>T (p.Pro1463=)
c.4386A>T (p.Pro1462=)
c.4368A>T (p.Pro1456=)
c.4338A>T (p.Pro1446=)
c.4791A>T (p.Pro1597=)
c.4788A>T (p.Pro1596=)
c.4782A>T (p.Pro1594=)
c.4752A>T (p.Pro1584=)
c.4746A>T (p.Pro1582=)
c.4743A>T (p.Pro1581=)
c.4728A>T (p.Pro1576=)
c.4716A>T (p.Pro1572=)
c.4710A>T (p.Pro1570=)
c.4695A>T (p.Pro1565=)
c.4635A>T (p.Pro1545=)
c.4626A>T (p.Pro1542=)
n.5708A>T
c.4500A>T (p.Pro1500=)
c.4488A>T (p.Pro1496=)
c.4332A>T (p.Pro1444=)
c.4299A>T (p.Pro1433=)
c.4512A>T (p.Pro1504=)
c.4497A>T (p.Pro1499=)
c.4260A>T (p.Pro1420=)
n.4803A>T
 dbSNP

Number of alleles fetched