Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38070752T>A | CA346326800 | CYP1B1 | c.1602A>T (p.Gln534His) c.489A>T (p.Gln163His) | |
2 | g.38070752T>C | CA425864305 | CYP1B1 | c.1602A>G (p.Gln534=) c.489A>G (p.Gln163=) | |
2 | g.38070752T>G | CA346326801 | CYP1B1 | c.1602A>C (p.Gln534His) c.489A>C (p.Gln163His) | gnomAD v4 |
2 | g.38070753T>A | CA346326802 | CYP1B1 | c.1601A>T (p.Gln534Leu) c.488A>T (p.Gln163Leu) | |
2 | g.38070753T>C | CA346326803 | CYP1B1 | c.1601A>G (p.Gln534Arg) c.488A>G (p.Gln163Arg) | |
2 | g.38070753T>G | CA346326804 | CYP1B1 | c.1601A>C (p.Gln534Pro) c.488A>C (p.Gln163Pro) | |
2 | g.38070754G>A | CA346326805 | CYP1B1 | c.1600C>T (p.Gln534Ter) c.487C>T (p.Gln163Ter) | |
2 | g.38070754G>C | CA346326806 | CYP1B1 | c.1600C>G (p.Gln534Glu) c.487C>G (p.Gln163Glu) | |
2 | g.38070754G= | CA1245625941 | CYP1B1 | c.1600C= (p.Gln534=) c.487C= (p.Gln163=) | |
2 | g.38070754G>T | CA346326807 | CYP1B1 | c.1600C>A (p.Gln534Lys) c.487C>A (p.Gln163Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070755G>A | CA425864307 | CYP1B1 | c.1599C>T (p.Val533=) c.486C>T (p.Val162=) | |
2 | g.38070755G>C | CA425864308 | CYP1B1 | c.1599C>G (p.Val533=) c.486C>G (p.Val162=) | |
2 | g.38070755G>T | CA425864309 | CYP1B1 | c.1599C>A (p.Val533=) c.486C>A (p.Val162=) | |
2 | g.38070756A>C | CA346326808 | CYP1B1 | c.1598T>G (p.Val533Gly) c.485T>G (p.Val162Gly) | |
2 | g.38070756A>G | CA346326810 | CYP1B1 | c.1598T>C (p.Val533Ala) c.485T>C (p.Val162Ala) | gnomAD v4 |
2 | g.38070756A>T | CA346326809 | CYP1B1 | c.1598T>A (p.Val533Asp) c.485T>A (p.Val162Asp) | |
2 | g.38070757del | CA2580610860 | CYP1B1 | c.1597del (p.Val533SerfsTer18) c.484del (p.Val162SerfsTer18) | |
2 | g.38070757C>A | CA346326811 | CYP1B1 | c.1597G>T (p.Val533Phe) c.484G>T (p.Val162Phe) | |
2 | g.38070757C>G | CA346326813 | CYP1B1 | c.1597G>C (p.Val533Leu) c.484G>C (p.Val162Leu) | |
2 | g.38070757C>T | CA346326812 | CYP1B1 | c.1597G>A (p.Val533Ile) c.484G>A (p.Val162Ile) | |
2 | g.38070758A>C | CA425864317 | CYP1B1 | c.1596T>G (p.Ala532=) c.483T>G (p.Ala161=) | |
2 | g.38070758A>G | CA425864314 | CYP1B1 | c.1596T>C (p.Ala532=) c.483T>C (p.Ala161=) | |
2 | g.38070758A>T | CA425864315 | CYP1B1 | c.1596T>A (p.Ala532=) c.483T>A (p.Ala161=) | |
2 | g.38070759G>A | CA346326814 | CYP1B1 | c.1595C>T (p.Ala532Val) c.482C>T (p.Ala161Val) | |
2 | g.38070759G>C | CA346326815 | CYP1B1 | c.1595C>G (p.Ala532Gly) c.482C>G (p.Ala161Gly) | |
2 | g.38070759G>T | CA346326816 | CYP1B1 | c.1595C>A (p.Ala532Asp) c.482C>A (p.Ala161Asp) | |
2 | g.38070760C>A | CA346326817 | CYP1B1 | c.1594G>T (p.Ala532Ser) c.481G>T (p.Ala161Ser) | |
2 | g.38070760C>G | CA346326818 | CYP1B1 | c.1594G>C (p.Ala532Pro) c.481G>C (p.Ala161Pro) | |
2 | g.38070760C>T | CA346326819 | CYP1B1 | c.1594G>A (p.Ala532Thr) c.481G>A (p.Ala161Thr) | |
2 | g.38070761A= | CA1245625942 | CYP1B1 | c.1593T= (p.Ser531=) c.480T= (p.Ser160=) | |
2 | g.38070761A>C | CA346326820 | CYP1B1 | c.1593T>G (p.Ser531Arg) c.480T>G (p.Ser160Arg) | ClinVar dbSNP |
2 | g.38070761A>G | CA45505673 | CYP1B1 | c.1593T>C (p.Ser531=) c.480T>C (p.Ser160=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070761A>T | CA346326821 | CYP1B1 | c.1593T>A (p.Ser531Arg) c.480T>A (p.Ser160Arg) | |
2 | g.38070762C>A | CA346326822 | CYP1B1 | c.1592G>T (p.Ser531Ile) c.479G>T (p.Ser160Ile) | |
2 | g.38070762C= | CA1245625943 | CYP1B1 | c.1592G= (p.Ser531=) c.479G= (p.Ser160=) | |
2 | g.38070762C>G | CA1619748 | CYP1B1 | c.1592G>C (p.Ser531Thr) c.479G>C (p.Ser160Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070762C>T | CA346326823 | CYP1B1 | c.1592G>A (p.Ser531Asn) c.479G>A (p.Ser160Asn) | gnomAD v4 |
2 | g.38070763T>A | CA346326826 | CYP1B1 | c.1591A>T (p.Ser531Cys) c.478A>T (p.Ser160Cys) | |
2 | g.38070763T>C | CA346326825 | CYP1B1 | c.1591A>G (p.Ser531Gly) c.478A>G (p.Ser160Gly) | |
2 | g.38070763T>G | CA346326824 | CYP1B1 | c.1591A>C (p.Ser531Arg) c.478A>C (p.Ser160Arg) | |
2 | g.38070764A= | CA1245625944 | CYP1B1 | c.1590T= (p.Asp530=) c.477T= (p.Asp159=) | |
2 | g.38070764A>C | CA1619750 | CYP1B1 | c.1590T>G (p.Asp530Glu) c.477T>G (p.Asp159Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070764A>G | CA1619749 | CYP1B1 | c.1590T>C (p.Asp530=) c.477T>C (p.Asp159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070764A>T | CA346326827 | CYP1B1 | c.1590T>A (p.Asp530Glu) c.477T>A (p.Asp159Glu) | |
2 | g.38070765T>A | CA346326828 | CYP1B1 | c.1589A>T (p.Asp530Val) c.476A>T (p.Asp159Val) | |
2 | g.38070765T>C | CA346326829 | CYP1B1 | c.1589A>G (p.Asp530Gly) c.476A>G (p.Asp159Gly) | dbSNP |
2 | g.38070765T>G | CA346326830 | CYP1B1 | c.1589A>C (p.Asp530Ala) c.476A>C (p.Asp159Ala) | |
2 | g.38070765T= | CA1245625945 | CYP1B1 | c.1589A= (p.Asp530=) c.476A= (p.Asp159=) | |
2 | g.38070766C>A | CA346326831 | CYP1B1 | c.1588G>T (p.Asp530Tyr) c.475G>T (p.Asp159Tyr) | |
2 | g.38070766C= | CA1245625946 | CYP1B1 | c.1588G= (p.Asp530=) c.475G= (p.Asp159=) |