Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38070806A= | CA1245625967 | CYP1B1 | c.1548T= (p.Phe516=) c.435T= (p.Phe145=) | |
2 | g.38070806A>C | CA1619761 | CYP1B1 | c.1548T>G (p.Phe516Leu) c.435T>G (p.Phe145Leu) | dbSNP ExAC gnomAD v2 |
2 | g.38070806A>G | CA425864375 | CYP1B1 | c.1548T>C (p.Phe516=) c.435T>C (p.Phe145=) | |
2 | g.38070806A>T | CA346326914 | CYP1B1 | c.1548T>A (p.Phe516Leu) c.435T>A (p.Phe145Leu) | |
2 | g.38070807A>C | CA346326915 | CYP1B1 | c.1547T>G (p.Phe516Cys) c.434T>G (p.Phe145Cys) | gnomAD v4 |
2 | g.38070807A>G | CA346326916 | CYP1B1 | c.1547T>C (p.Phe516Ser) c.434T>C (p.Phe145Ser) | |
2 | g.38070807A>T | CA346326917 | CYP1B1 | c.1547T>A (p.Phe516Tyr) c.434T>A (p.Phe145Tyr) | |
2 | g.38070808A>C | CA346326920 | CYP1B1 | c.1546T>G (p.Phe516Val) c.433T>G (p.Phe145Val) | |
2 | g.38070808A>G | CA346326919 | CYP1B1 | c.1546T>C (p.Phe516Leu) c.433T>C (p.Phe145Leu) | |
2 | g.38070808A>T | CA346326918 | CYP1B1 | c.1546T>A (p.Phe516Ile) c.433T>A (p.Phe145Ile) | |
2 | g.38070809T>A | CA425864380 | CYP1B1 | c.1545A>T (p.Ser515=) c.432A>T (p.Ser144=) | ClinVar |
2 | g.38070809T>C | CA425864381 | CYP1B1 | c.1545A>G (p.Ser515=) c.432A>G (p.Ser144=) | |
2 | g.38070809T>G | CA425864382 | CYP1B1 | c.1545A>C (p.Ser515=) c.432A>C (p.Ser144=) | |
2 | g.38070810G>A | CA346326921 | CYP1B1 | c.1544C>T (p.Ser515Leu) c.431C>T (p.Ser144Leu) | |
2 | g.38070810G>C | CA346326923 | CYP1B1 | c.1544C>G (p.Ser515Ter) c.431C>G (p.Ser144Ter) | |
2 | g.38070810G>T | CA346326922 | CYP1B1 | c.1544C>A (p.Ser515Ter) c.431C>A (p.Ser144Ter) | |
2 | g.38070811A>C | CA346326924 | CYP1B1 | c.1543T>G (p.Ser515Ala) c.430T>G (p.Ser144Ala) | |
2 | g.38070811A>G | CA346326925 | CYP1B1 | c.1543T>C (p.Ser515Pro) c.430T>C (p.Ser144Pro) | |
2 | g.38070811A>T | CA346326926 | CYP1B1 | c.1543T>A (p.Ser515Thr) c.430T>A (p.Ser144Thr) | |
2 | g.38070812C>A | CA346326927 | CYP1B1 | c.1542G>T (p.Lys514Asn) c.429G>T (p.Lys143Asn) | |
2 | g.38070812C>G | CA346326928 | CYP1B1 | c.1542G>C (p.Lys514Asn) c.429G>C (p.Lys143Asn) | |
2 | g.38070812C>T | CA425864387 | CYP1B1 | c.1542G>A (p.Lys514=) c.429G>A (p.Lys143=) | ClinVar gnomAD v4 |
2 | g.38070812_38070818delinsCTTGGGT | CA1245625968 | CYP1B1 | c.1536_1542delinsACCCAAG (p.Lys512=) c.423_429delinsACCCAAG (p.Lys141=) | |
2 | g.38070813T>A | CA346326929 | CYP1B1 | c.1541A>T (p.Lys514Met) c.428A>T (p.Lys143Met) | |
2 | g.38070813T>C | CA346326930 | CYP1B1 | c.1541A>G (p.Lys514Arg) c.428A>G (p.Lys143Arg) | |
2 | g.38070813T>G | CA346326931 | CYP1B1 | c.1541A>C (p.Lys514Thr) c.428A>C (p.Lys143Thr) | |
2 | g.38070815_38070820del | CA1619762 | CYP1B1 | c.1536_1541del (p.Pro513_Lys514del) c.423_428del (p.Pro142_Lys143del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070814T>A | CA346326932 | CYP1B1 | c.1540A>T (p.Lys514Ter) c.427A>T (p.Lys143Ter) | |
2 | g.38070814T>C | CA346326933 | CYP1B1 | c.1540A>G (p.Lys514Glu) c.427A>G (p.Lys143Glu) | dbSNP |
2 | g.38070814T>G | CA346326934 | CYP1B1 | c.1540A>C (p.Lys514Gln) c.427A>C (p.Lys143Gln) | |
2 | g.38070814T= | CA1245625969 | CYP1B1 | c.1540A= (p.Lys514=) c.427A= (p.Lys143=) | |
2 | g.38070815G>A | CA425864390 | CYP1B1 | c.1539C>T (p.Pro513=) c.426C>T (p.Pro142=) | |
2 | g.38070815G>C | CA425864392 | CYP1B1 | c.1539C>G (p.Pro513=) c.426C>G (p.Pro142=) | |
2 | g.38070815G>T | CA425864393 | CYP1B1 | c.1539C>A (p.Pro513=) c.426C>A (p.Pro142=) | |
2 | g.38070816G>A | CA346326937 | CYP1B1 | c.1538C>T (p.Pro513Leu) c.425C>T (p.Pro142Leu) | gnomAD v4 |
2 | g.38070816G>C | CA346326935 | CYP1B1 | c.1538C>G (p.Pro513Arg) c.425C>G (p.Pro142Arg) | |
2 | g.38070816G>T | CA346326936 | CYP1B1 | c.1538C>A (p.Pro513His) c.425C>A (p.Pro142His) | gnomAD v4 COSMIC |
2 | g.38070817G>A | CA346326938 | CYP1B1 | c.1537C>T (p.Pro513Ser) c.424C>T (p.Pro142Ser) | |
2 | g.38070817G>C | CA346326939 | CYP1B1 | c.1537C>G (p.Pro513Ala) c.424C>G (p.Pro142Ala) | |
2 | g.38070817G= | CA1245625971 | CYP1B1 | c.1537C= (p.Pro513=) c.424C= (p.Pro142=) | |
2 | g.38070817G>T | CA45505807 | CYP1B1 | c.1537C>A (p.Pro513Thr) c.424C>A (p.Pro142Thr) | dbSNP COSMIC |
2 | g.38070817_38070837delinsGTTTAATGGTTAGACCATAAC | CA1245625970 | CYP1B1 | c.1517_1537delinsGTTATGGTCTAACCATTAAAC (p.Ser506=) c.404_424delinsGTTATGGTCTAACCATTAAAC (p.Ser135=) | |
2 | g.38070818T>A | CA346326940 | CYP1B1 | c.1536A>T (p.Lys512Asn) c.423A>T (p.Lys141Asn) | |
2 | g.38070818T>C | CA425864395 | CYP1B1 | c.1536A>G (p.Lys512=) c.423A>G (p.Lys141=) | |
2 | g.38070818T>G | CA346326941 | CYP1B1 | c.1536A>C (p.Lys512Asn) c.423A>C (p.Lys141Asn) | |
2 | g.38070820del | CA2586969056 | CYP1B1 | c.1536del (p.Lys512AsnfsTer?) c.423del (p.Lys141AsnfsTer?) | |
2 | g.38070819_38070838del | CA45505809 | CYP1B1 | c.1517_1536del (p.Ser506ThrfsTer5) c.404_423del (p.Ser135ThrfsTer5) | dbSNP |
2 | g.38070819T>A | CA346326942 | CYP1B1 | c.1535A>T (p.Lys512Ile) c.422A>T (p.Lys141Ile) | |
2 | g.38070819T>C | CA346326943 | CYP1B1 | c.1535A>G (p.Lys512Arg) c.422A>G (p.Lys141Arg) | |
2 | g.38070819T>G | CA346326944 | CYP1B1 | c.1535A>C (p.Lys512Thr) c.422A>C (p.Lys141Thr) | |
2 | g.38070820T>A | CA346326945 | CYP1B1 | c.1534A>T (p.Lys512Ter) c.421A>T (p.Lys141Ter) | |
2 | g.38070820T>C | CA346326946 | CYP1B1 | c.1534A>G (p.Lys512Glu) c.421A>G (p.Lys141Glu) | |
2 | g.38070820T>G | CA346326947 | CYP1B1 | c.1534A>C (p.Lys512Gln) c.421A>C (p.Lys141Gln) | |
2 | g.38070821A>C | CA346326948 | CYP1B1 | c.1533T>G (p.Ile511Met) c.420T>G (p.Ile140Met) | |
2 | g.38070821A>G | CA425864398 | CYP1B1 | c.1533T>C (p.Ile511=) c.420T>C (p.Ile140=) | gnomAD v4 |
2 | g.38070821A>T | CA425864399 | CYP1B1 | c.1533T>A (p.Ile511=) c.420T>A (p.Ile140=) | |
2 | g.38070822A>C | CA346326951 | CYP1B1 | c.1532T>G (p.Ile511Ser) c.419T>G (p.Ile140Ser) | |
2 | g.38070822A>G | CA346326949 | CYP1B1 | c.1532T>C (p.Ile511Thr) c.419T>C (p.Ile140Thr) | |
2 | g.38070822A>T | CA346326950 | CYP1B1 | c.1532T>A (p.Ile511Asn) c.419T>A (p.Ile140Asn) | |
2 | g.38070823T>A | CA346326952 | CYP1B1 | c.1531A>T (p.Ile511Phe) c.418A>T (p.Ile140Phe) | |
2 | g.38070823T>C | CA346326953 | CYP1B1 | c.1531A>G (p.Ile511Val) c.418A>G (p.Ile140Val) | dbSNP |
2 | g.38070823T>G | CA346326954 | CYP1B1 | c.1531A>C (p.Ile511Leu) c.418A>C (p.Ile140Leu) | |
2 | g.38070823T= | CA1245625972 | CYP1B1 | c.1531A= (p.Ile511=) c.418A= (p.Ile140=) | |
2 | g.38070824G>A | CA425864400 | CYP1B1 | c.1530C>T (p.Thr510=) c.417C>T (p.Thr139=) | |
2 | g.38070824G>C | CA425864401 | CYP1B1 | c.1530C>G (p.Thr510=) c.417C>G (p.Thr139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070824G= | CA1245625973 | CYP1B1 | c.1530C= (p.Thr510=) c.417C= (p.Thr139=) | |
2 | g.38070824G>T | CA425864402 | CYP1B1 | c.1530C>A (p.Thr510=) c.417C>A (p.Thr139=) | |
2 | g.38070825G>A | CA346326955 | CYP1B1 | c.1529C>T (p.Thr510Ile) c.416C>T (p.Thr139Ile) | |
2 | g.38070825G>C | CA346326956 | CYP1B1 | c.1529C>G (p.Thr510Ser) c.416C>G (p.Thr139Ser) | |
2 | g.38070825G>T | CA346326957 | CYP1B1 | c.1529C>A (p.Thr510Asn) c.416C>A (p.Thr139Asn) | |
2 | g.38070826T>A | CA346326958 | CYP1B1 | c.1528A>T (p.Thr510Ser) c.415A>T (p.Thr139Ser) | |
2 | g.38070826T>C | CA346326959 | CYP1B1 | c.1528A>G (p.Thr510Ala) c.415A>G (p.Thr139Ala) | |
2 | g.38070826T>G | CA1619763 | CYP1B1 | c.1528A>C (p.Thr510Pro) c.415A>C (p.Thr139Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38070826T= | CA1245625974 | CYP1B1 | c.1528A= (p.Thr510=) c.415A= (p.Thr139=) | |
2 | g.38070827T>A | CA425864405 | CYP1B1 | c.1527A>T (p.Leu509=) c.414A>T (p.Leu138=) | |
2 | g.38070827T>C | CA425864404 | CYP1B1 | c.1527A>G (p.Leu509=) c.414A>G (p.Leu138=) | |
2 | g.38070827T>G | CA425864403 | CYP1B1 | c.1527A>C (p.Leu509=) c.414A>C (p.Leu138=) | |
2 | g.38070828A>C | CA346326960 | CYP1B1 | c.1526T>G (p.Leu509Arg) c.413T>G (p.Leu138Arg) | |
2 | g.38070828A>G | CA346326961 | CYP1B1 | c.1526T>C (p.Leu509Pro) c.413T>C (p.Leu138Pro) | gnomAD v4 |
2 | g.38070828A>T | CA346326962 | CYP1B1 | c.1526T>A (p.Leu509Gln) c.413T>A (p.Leu138Gln) | |
2 | g.38070829G>A | CA425864406 | CYP1B1 | c.1525C>T (p.Leu509=) c.412C>T (p.Leu138=) | |
2 | g.38070829G>C | CA346326963 | CYP1B1 | c.1525C>G (p.Leu509Val) c.412C>G (p.Leu138Val) | gnomAD v4 |
2 | g.38070829G= | CA1245625975 | CYP1B1 | c.1525C= (p.Leu509=) c.412C= (p.Leu138=) | |
2 | g.38070829G>T | CA346326964 | CYP1B1 | c.1525C>A (p.Leu509Ile) c.412C>A (p.Leu138Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070830A>C | CA425864407 | CYP1B1 | c.1524T>G (p.Gly508=) c.411T>G (p.Gly137=) | |
2 | g.38070830A>G | CA425864408 | CYP1B1 | c.1524T>C (p.Gly508=) c.411T>C (p.Gly137=) | |
2 | g.38070830A>T | CA425864409 | CYP1B1 | c.1524T>A (p.Gly508=) c.411T>A (p.Gly137=) | |
2 | g.38070831C>A | CA346326965 | CYP1B1 | c.1523G>T (p.Gly508Val) c.410G>T (p.Gly137Val) | |
2 | g.38070831C>G | CA346326966 | CYP1B1 | c.1523G>C (p.Gly508Ala) c.410G>C (p.Gly137Ala) | |
2 | g.38070831C>T | CA346326967 | CYP1B1 | c.1523G>A (p.Gly508Asp) c.410G>A (p.Gly137Asp) | gnomAD v4 |
2 | g.38070832C>A | CA346326968 | CYP1B1 | c.1522G>T (p.Gly508Cys) c.409G>T (p.Gly137Cys) | |
2 | g.38070832C>G | CA346326969 | CYP1B1 | c.1522G>C (p.Gly508Arg) c.409G>C (p.Gly137Arg) | |
2 | g.38070832C>T | CA346326970 | CYP1B1 | c.1522G>A (p.Gly508Ser) c.409G>A (p.Gly137Ser) | |
2 | g.38070833A= | CA1245625976 | CYP1B1 | c.1521T= (p.Tyr507=) c.408T= (p.Tyr136=) | |
2 | g.38070833A>C | CA346326971 | CYP1B1 | c.1521T>G (p.Tyr507Ter) c.408T>G (p.Tyr136Ter) | |
2 | g.38070833A>G | CA1619764 | CYP1B1 | c.1521T>C (p.Tyr507=) c.408T>C (p.Tyr136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070833A>T | CA346326972 | CYP1B1 | c.1521T>A (p.Tyr507Ter) c.408T>A (p.Tyr136Ter) | |
2 | g.38070834T>A | CA346326973 | CYP1B1 | c.1520A>T (p.Tyr507Phe) c.407A>T (p.Tyr136Phe) | |
2 | g.38070834T>C | CA346326974 | CYP1B1 | c.1520A>G (p.Tyr507Cys) c.407A>G (p.Tyr136Cys) | |
2 | g.38070834T>G | CA346326975 | CYP1B1 | c.1520A>C (p.Tyr507Ser) c.407A>C (p.Tyr136Ser) | |
2 | g.38070834_38070835insGTCTTTGACTCAAAAAAATCTCCCAGAAGCTCCTGCATAGCCCACTACTCATGAAG | CA2658667720 | CYP1B1 | c.1519_1520insCTTCATGAGTAGTGGGCTATGCAGGAGCTTCTGGGAGATTTTTTTGAGTCAAAGAC (p.Tyr507SerfsTer3) c.406_407insCTTCATGAGTAGTGGGCTATGCAGGAGCTTCTGGGAGATTTTTTTGAGTCAAAGAC (p.Tyr136SerfsTer3) | gnomAD v4 |
2 | g.38070835A>C | CA346326976 | CYP1B1 | c.1519T>G (p.Tyr507Asp) c.406T>G (p.Tyr136Asp) | |
2 | g.38070835A>G | CA346326978 | CYP1B1 | c.1519T>C (p.Tyr507His) c.406T>C (p.Tyr136His) | |
2 | g.38070835A>T | CA346326977 | CYP1B1 | c.1519T>A (p.Tyr507Asn) c.406T>A (p.Tyr136Asn) | |
2 | g.38070836A>C | CA346326979 | CYP1B1 | c.1518T>G (p.Ser506Arg) c.405T>G (p.Ser135Arg) | |
2 | g.38070836A>G | CA425864410 | CYP1B1 | c.1518T>C (p.Ser506=) c.405T>C (p.Ser135=) | |
2 | g.38070836A>T | CA346326980 | CYP1B1 | c.1518T>A (p.Ser506Arg) c.405T>A (p.Ser135Arg) | |
2 | g.38070837C>A | CA346326981 | CYP1B1 | c.1517G>T (p.Ser506Ile) c.404G>T (p.Ser135Ile) | |
2 | g.38070837C= | CA1245625977 | CYP1B1 | c.1517G= (p.Ser506=) c.404G= (p.Ser135=) | |
2 | g.38070837C>G | CA346326982 | CYP1B1 | c.1517G>C (p.Ser506Thr) c.404G>C (p.Ser135Thr) | gnomAD v4 |
2 | g.38070837C>T | CA1619765 | CYP1B1 | c.1517G>A (p.Ser506Asn) c.404G>A (p.Ser135Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070838T>A | CA346326983 | CYP1B1 | c.1516A>T (p.Ser506Cys) c.403A>T (p.Ser135Cys) | |
2 | g.38070838T>C | CA346326984 | CYP1B1 | c.1516A>G (p.Ser506Gly) c.403A>G (p.Ser135Gly) | |
2 | g.38070838T>G | CA346326985 | CYP1B1 | c.1516A>C (p.Ser506Arg) c.403A>C (p.Ser135Arg) | |
2 | g.38070839G>A | CA425864411 | CYP1B1 | c.1515C>T (p.Phe505=) c.402C>T (p.Phe134=) | |
2 | g.38070839G>C | CA346326986 | CYP1B1 | c.1515C>G (p.Phe505Leu) c.402C>G (p.Phe134Leu) | |
2 | g.38070839G>T | CA346326987 | CYP1B1 | c.1515C>A (p.Phe505Leu) c.402C>A (p.Phe134Leu) | |
2 | g.38070840A>C | CA346326988 | CYP1B1 | c.1514T>G (p.Phe505Cys) c.401T>G (p.Phe134Cys) | |
2 | g.38070840A>G | CA346326989 | CYP1B1 | c.1514T>C (p.Phe505Ser) c.401T>C (p.Phe134Ser) | |
2 | g.38070840A>T | CA346326990 | CYP1B1 | c.1514T>A (p.Phe505Tyr) c.401T>A (p.Phe134Tyr) | |
2 | g.38070841A>C | CA346326991 | CYP1B1 | c.1513T>G (p.Phe505Val) c.400T>G (p.Phe134Val) | |
2 | g.38070841A>G | CA346326992 | CYP1B1 | c.1513T>C (p.Phe505Leu) c.400T>C (p.Phe134Leu) | |
2 | g.38070841A>T | CA346326993 | CYP1B1 | c.1513T>A (p.Phe505Ile) c.400T>A (p.Phe134Ile) | |
2 | g.38070842A>C | CA346326995 | CYP1B1 | c.1512T>G (p.Asn504Lys) c.399T>G (p.Asn133Lys) | gnomAD v4 |
2 | g.38070842A>G | CA425864412 | CYP1B1 | c.1512T>C (p.Asn504=) c.399T>C (p.Asn133=) | |
2 | g.38070842A>T | CA346326994 | CYP1B1 | c.1512T>A (p.Asn504Lys) c.399T>A (p.Asn133Lys) | |
2 | g.38070843T>A | CA346326996 | CYP1B1 | c.1511A>T (p.Asn504Ile) c.398A>T (p.Asn133Ile) | |
2 | g.38070843T>C | CA346326997 | CYP1B1 | c.1511A>G (p.Asn504Ser) c.398A>G (p.Asn133Ser) | gnomAD v4 COSMIC |
2 | g.38070843T>G | CA346326998 | CYP1B1 | c.1511A>C (p.Asn504Thr) c.398A>C (p.Asn133Thr) | |
2 | g.38070844T>A | CA346326999 | CYP1B1 | c.1510A>T (p.Asn504Tyr) c.397A>T (p.Asn133Tyr) | |
2 | g.38070844T>C | CA346327000 | CYP1B1 | c.1510A>G (p.Asn504Asp) c.397A>G (p.Asn133Asp) | |
2 | g.38070844T>G | CA346327001 | CYP1B1 | c.1510A>C (p.Asn504His) c.397A>C (p.Asn133His) | |
2 | g.38070845C>A | CA346327002 | CYP1B1 | c.1509G>T (p.Met503Ile) c.396G>T (p.Met132Ile) | dbSNP |
2 | g.38070845C= | CA1245625978 | CYP1B1 | c.1509G= (p.Met503=) c.396G= (p.Met132=) | |
2 | g.38070845C>G | CA346327003 | CYP1B1 | c.1509G>C (p.Met503Ile) c.396G>C (p.Met132Ile) | dbSNP gnomAD v4 |
2 | g.38070845C>T | CA346327004 | CYP1B1 | c.1509G>A (p.Met503Ile) c.396G>A (p.Met132Ile) | gnomAD v4 |
2 | g.38070846A>C | CA346327005 | CYP1B1 | c.1508T>G (p.Met503Arg) c.395T>G (p.Met132Arg) | |
2 | g.38070846A>G | CA346327006 | CYP1B1 | c.1508T>C (p.Met503Thr) c.395T>C (p.Met132Thr) | |
2 | g.38070846A>T | CA346327007 | CYP1B1 | c.1508T>A (p.Met503Lys) c.395T>A (p.Met132Lys) | |
2 | g.38070846_38070847delinsAT | CA1245625979 | CYP1B1 | c.1507_1508delinsAT (p.Met503=) c.394_395delinsAT (p.Met132=) | |
2 | g.38070847T>A | CA346327009 | CYP1B1 | c.1507A>T (p.Met503Leu) c.394A>T (p.Met132Leu) | |
2 | g.38070847T>C | CA346327010 | CYP1B1 | c.1507A>G (p.Met503Val) c.394A>G (p.Met132Val) | |
2 | g.38070847T>G | CA346327008 | CYP1B1 | c.1507A>C (p.Met503Leu) c.394A>C (p.Met132Leu) | |
2 | g.38070850del | CA45505821 | CYP1B1 | c.1507del (p.Met503Ter) c.394del (p.Met132Ter) | dbSNP |
2 | g.38070848T>A | CA346327011 | CYP1B1 | c.1506A>T (p.Lys502Asn) c.393A>T (p.Lys131Asn) | |
2 | g.38070848T>C | CA425864413 | CYP1B1 | c.1506A>G (p.Lys502=) c.393A>G (p.Lys131=) | |
2 | g.38070848T>G | CA346327012 | CYP1B1 | c.1506A>C (p.Lys502Asn) c.393A>C (p.Lys131Asn) | |
2 | g.38070849T>A | CA346327013 | CYP1B1 | c.1505A>T (p.Lys502Ile) c.392A>T (p.Lys131Ile) | |
2 | g.38070849T>C | CA346327014 | CYP1B1 | c.1505A>G (p.Lys502Arg) c.392A>G (p.Lys131Arg) | |
2 | g.38070849T>G | CA346327015 | CYP1B1 | c.1505A>C (p.Lys502Thr) c.392A>C (p.Lys131Thr) | |
2 | g.38070850T>A | CA346327016 | CYP1B1 | c.1504A>T (p.Lys502Ter) c.391A>T (p.Lys131Ter) | |
2 | g.38070850T>C | CA346327017 | CYP1B1 | c.1504A>G (p.Lys502Glu) c.391A>G (p.Lys131Glu) | |
2 | g.38070850T>G | CA346327018 | CYP1B1 | c.1504A>C (p.Lys502Gln) c.391A>C (p.Lys131Gln) | |
2 | g.38070851C>A | CA425864414 | CYP1B1 | c.1503G>T (p.Ala501=) c.390G>T (p.Ala130=) | gnomAD v4 |
2 | g.38070851C= | CA1245625980 | CYP1B1 | c.1503G= (p.Ala501=) c.390G= (p.Ala130=) | |
2 | g.38070851C>G | CA425864415 | CYP1B1 | c.1503G>C (p.Ala501=) c.390G>C (p.Ala130=) | |
2 | g.38070851C>T | CA1619766 | CYP1B1 | c.1503G>A (p.Ala501=) c.390G>A (p.Ala130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070852G>A | CA1619767 | CYP1B1 | c.1502C>T (p.Ala501Val) c.389C>T (p.Ala130Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070852G>C | CA346327019 | CYP1B1 | c.1502C>G (p.Ala501Gly) c.389C>G (p.Ala130Gly) | |
2 | g.38070852G= | CA1245625981 | CYP1B1 | c.1502C= (p.Ala501=) c.389C= (p.Ala130=) | |
2 | g.38070852G>T | CA346327020 | CYP1B1 | c.1502C>A (p.Ala501Glu) c.389C>A (p.Ala130Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070853C>A | CA346327021 | CYP1B1 | c.1501G>T (p.Ala501Ser) c.388G>T (p.Ala130Ser) | |
2 | g.38070853C= | CA1245625982 | CYP1B1 | c.1501G= (p.Ala501=) c.388G= (p.Ala130=) | |
2 | g.38070853C>G | CA346327022 | CYP1B1 | c.1501G>C (p.Ala501Pro) c.388G>C (p.Ala130Pro) | |
2 | g.38070853C>T | CA1619768 | CYP1B1 | c.1501G>A (p.Ala501Thr) c.388G>A (p.Ala130Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38070854A= | CA1245625983 | CYP1B1 | c.1500T= (p.Pro500=) c.387T= (p.Pro129=) | |
2 | g.38070854A>C | CA425864416 | CYP1B1 | c.1500T>G (p.Pro500=) c.387T>G (p.Pro129=) | |
2 | g.38070854A>G | CA425864417 | CYP1B1 | c.1500T>C (p.Pro500=) c.387T>C (p.Pro129=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070854A>T | CA425864418 | CYP1B1 | c.1500T>A (p.Pro500=) c.387T>A (p.Pro129=) | ClinVar gnomAD v4 |
2 | g.38070855G>A | CA346327023 | CYP1B1 | c.1499C>T (p.Pro500Leu) c.386C>T (p.Pro129Leu) | |
2 | g.38070855G>C | CA346327024 | CYP1B1 | c.1499C>G (p.Pro500Arg) c.386C>G (p.Pro129Arg) | |
2 | g.38070855G>T | CA346327025 | CYP1B1 | c.1499C>A (p.Pro500His) c.386C>A (p.Pro129His) | |
2 | g.38070856G>A | CA346327026 | CYP1B1 | c.1498C>T (p.Pro500Ser) c.385C>T (p.Pro129Ser) | |
2 | g.38070856G>C | CA346327027 | CYP1B1 | c.1498C>G (p.Pro500Ala) c.385C>G (p.Pro129Ala) | |
2 | g.38070856G>T | CA346327028 | CYP1B1 | c.1498C>A (p.Pro500Thr) c.385C>A (p.Pro129Thr) | gnomAD v4 |
2 | g.38070857C>A | CA346327029 | CYP1B1 | c.1497G>T (p.Glu499Asp) c.384G>T (p.Glu128Asp) | |
2 | g.38070857C= | CA1245625984 | CYP1B1 | c.1497G= (p.Glu499=) c.384G= (p.Glu128=) | |
2 | g.38070857C>G | CA346327030 | CYP1B1 | c.1497G>C (p.Glu499Asp) c.384G>C (p.Glu128Asp) | |
2 | g.38070857C>T | CA425864419 | CYP1B1 | c.1497G>A (p.Glu499=) c.384G>A (p.Glu128=) | ClinVar dbSNP gnomAD v4 |
2 | g.38070858T>A | CA346327031 | CYP1B1 | c.1496A>T (p.Glu499Val) c.383A>T (p.Glu128Val) | |
2 | g.38070858T>C | CA45505867 | CYP1B1 | c.1496A>G (p.Glu499Gly) c.383A>G (p.Glu128Gly) | dbSNP gnomAD v4 |
2 | g.38070858T>G | CA346327032 | CYP1B1 | c.1496A>C (p.Glu499Ala) c.383A>C (p.Glu128Ala) | |
2 | g.38070858T= | CA1245625985 | CYP1B1 | c.1496A= (p.Glu499=) c.383A= (p.Glu128=) | |
2 | g.38070859C>A | CA346327033 | CYP1B1 | c.1495G>T (p.Glu499Ter) c.382G>T (p.Glu128Ter) | |
2 | g.38070859C= | CA1245625986 | CYP1B1 | c.1495G= (p.Glu499=) c.382G= (p.Glu128=) | |
2 | g.38070859C>G | CA346327034 | CYP1B1 | c.1495G>C (p.Glu499Gln) c.382G>C (p.Glu128Gln) | |
2 | g.38070859C>T | CA1619769 | CYP1B1 | c.1495G>A (p.Glu499Lys) c.382G>A (p.Glu128Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070860A= | CA1245625987 | CYP1B1 | c.1494T= (p.Asn498=) c.381T= (p.Asn127=) | |
2 | g.38070860A>C | CA346327035 | CYP1B1 | c.1494T>G (p.Asn498Lys) c.381T>G (p.Asn127Lys) | |
2 | g.38070860A>G | CA425864420 | CYP1B1 | c.1494T>C (p.Asn498=) c.381T>C (p.Asn127=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070860A>T | CA346327036 | CYP1B1 | c.1494T>A (p.Asn498Lys) c.381T>A (p.Asn127Lys) | |
2 | g.38070861T>A | CA346327037 | CYP1B1 | c.1493A>T (p.Asn498Ile) c.380A>T (p.Asn127Ile) | dbSNP gnomAD v4 |
2 | g.38070861T>C | CA346327039 | CYP1B1 | c.1493A>G (p.Asn498Ser) c.380A>G (p.Asn127Ser) | gnomAD v4 |
2 | g.38070861T>G | CA346327038 | CYP1B1 | c.1493A>C (p.Asn498Thr) c.380A>C (p.Asn127Thr) | |
2 | g.38070861T= | CA1245625988 | CYP1B1 | c.1493A= (p.Asn498=) c.380A= (p.Asn127=) | |
2 | g.38070862T>A | CA346327040 | CYP1B1 | c.1492A>T (p.Asn498Tyr) c.379A>T (p.Asn127Tyr) | |
2 | g.38070862T>C | CA346327041 | CYP1B1 | c.1492A>G (p.Asn498Asp) c.379A>G (p.Asn127Asp) | |
2 | g.38070862T>G | CA346327042 | CYP1B1 | c.1492A>C (p.Asn498His) c.379A>C (p.Asn127His) | gnomAD v4 |
2 | g.38070863T>A | CA425864421 | CYP1B1 | c.1491A>T (p.Pro497=) c.378A>T (p.Pro126=) | |
2 | g.38070863T>C | CA425864422 | CYP1B1 | c.1491A>G (p.Pro497=) c.378A>G (p.Pro126=) | gnomAD v4 |
2 | g.38070863T>G | CA425864423 | CYP1B1 | c.1491A>C (p.Pro497=) c.378A>C (p.Pro126=) | |
2 | g.38070864G>A | CA346327043 | CYP1B1 | c.1490C>T (p.Pro497Leu) c.377C>T (p.Pro126Leu) | |
2 | g.38070864G>C | CA346327044 | CYP1B1 | c.1490C>G (p.Pro497Arg) c.377C>G (p.Pro126Arg) | |
2 | g.38070864G>T | CA346327045 | CYP1B1 | c.1490C>A (p.Pro497Gln) c.377C>A (p.Pro126Gln) | |
2 | g.38070865G>A | CA346327046 | CYP1B1 | c.1489C>T (p.Pro497Ser) c.376C>T (p.Pro126Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070865G>C | CA346327047 | CYP1B1 | c.1489C>G (p.Pro497Ala) c.376C>G (p.Pro126Ala) | COSMIC |
2 | g.38070865G= | CA1245625989 | CYP1B1 | c.1489C= (p.Pro497=) c.376C= (p.Pro126=) | |
2 | g.38070865G>T | CA346327048 | CYP1B1 | c.1489C>A (p.Pro497Thr) c.376C>A (p.Pro126Thr) | |
2 | g.38070866G>A | CA425864424 | CYP1B1 | c.1488C>T (p.Asn496=) c.375C>T (p.Asn125=) | gnomAD v4 |
2 | g.38070866G>C | CA346327049 | CYP1B1 | c.1488C>G (p.Asn496Lys) c.375C>G (p.Asn125Lys) | |
2 | g.38070866G>T | CA346327050 | CYP1B1 | c.1488C>A (p.Asn496Lys) c.375C>A (p.Asn125Lys) | |
2 | g.38070867T>A | CA346327053 | CYP1B1 | c.1487A>T (p.Asn496Ile) c.374A>T (p.Asn125Ile) | |
2 | g.38070867T>C | CA346327051 | CYP1B1 | c.1487A>G (p.Asn496Ser) c.374A>G (p.Asn125Ser) | |
2 | g.38070867T>G | CA346327052 | CYP1B1 | c.1487A>C (p.Asn496Thr) c.374A>C (p.Asn125Thr) | |
2 | g.38070868T>A | CA346327054 | CYP1B1 | c.1486A>T (p.Asn496Tyr) c.373A>T (p.Asn125Tyr) | |
2 | g.38070868T>C | CA1619770 | CYP1B1 | c.1486A>G (p.Asn496Asp) c.373A>G (p.Asn125Asp) | dbSNP ExAC gnomAD v2 |
2 | g.38070868T>G | CA346327055 | CYP1B1 | c.1486A>C (p.Asn496His) c.373A>C (p.Asn125His) | |
2 | g.38070868T= | CA1245625990 | CYP1B1 | c.1486A= (p.Asn496=) c.373A= (p.Asn125=) | |
2 | g.38070869G>A | CA425864426 | CYP1B1 | c.1485C>T (p.Ala495=) c.372C>T (p.Ala124=) | |
2 | g.38070869G>C | CA425864428 | CYP1B1 | c.1485C>G (p.Ala495=) c.372C>G (p.Ala124=) | |
2 | g.38070869G>T | CA425864427 | CYP1B1 | c.1485C>A (p.Ala495=) c.372C>A (p.Ala124=) | |
2 | g.38070870G>A | CA346327056 | CYP1B1 | c.1484C>T (p.Ala495Val) c.371C>T (p.Ala124Val) | dbSNP |
2 | g.38070870G>C | CA346327057 | CYP1B1 | c.1484C>G (p.Ala495Gly) c.371C>G (p.Ala124Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070870G= | CA1245625991 | CYP1B1 | c.1484C= (p.Ala495=) c.371C= (p.Ala124=) | |
2 | g.38070870G>T | CA346327058 | CYP1B1 | c.1484C>A (p.Ala495Asp) c.371C>A (p.Ala124Asp) | |
2 | g.38070871C>A | CA346327059 | CYP1B1 | c.1483G>T (p.Ala495Ser) c.370G>T (p.Ala124Ser) | |
2 | g.38070871C= | CA1245625992 | CYP1B1 | c.1483G= (p.Ala495=) c.370G= (p.Ala124=) | |
2 | g.38070871C>G | CA346327060 | CYP1B1 | c.1483G>C (p.Ala495Pro) c.370G>C (p.Ala124Pro) | |
2 | g.38070871C>T | CA1619771 | CYP1B1 | c.1483G>A (p.Ala495Thr) c.370G>A (p.Ala124Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.38070872C>A | CA346327061 | CYP1B1 | c.1482G>T (p.Arg494Ser) c.369G>T (p.Arg123Ser) | |
2 | g.38070872C>G | CA346327062 | CYP1B1 | c.1482G>C (p.Arg494Ser) c.369G>C (p.Arg123Ser) | |
2 | g.38070872C>T | CA425864433 | CYP1B1 | c.1482G>A (p.Arg494=) c.369G>A (p.Arg123=) | gnomAD v4 |
2 | g.38070873C>A | CA346327064 | CYP1B1 | c.1481G>T (p.Arg494Met) c.368G>T (p.Arg123Met) | |
2 | g.38070873C>G | CA346327065 | CYP1B1 | c.1481G>C (p.Arg494Thr) c.368G>C (p.Arg123Thr) | gnomAD v4 |
2 | g.38070873C>T | CA346327063 | CYP1B1 | c.1481G>A (p.Arg494Lys) c.368G>A (p.Arg123Lys) | COSMIC |
2 | g.38070874T>A | CA346327066 | CYP1B1 | c.1480A>T (p.Arg494Trp) c.367A>T (p.Arg123Trp) | |
2 | g.38070874T>C | CA346327067 | CYP1B1 | c.1480A>G (p.Arg494Gly) c.367A>G (p.Arg123Gly) | gnomAD v4 |
2 | g.38070874T>G | CA425864434 | CYP1B1 | c.1480A>C (p.Arg494=) c.367A>C (p.Arg123=) | gnomAD v4 |
2 | g.38070875G>A | CA425864436 | CYP1B1 | c.1479C>T (p.Phe493=) c.366C>T (p.Phe122=) | |
2 | g.38070875G>C | CA346327068 | CYP1B1 | c.1479C>G (p.Phe493Leu) c.366C>G (p.Phe122Leu) | |
2 | g.38070875G>T | CA346327069 | CYP1B1 | c.1479C>A (p.Phe493Leu) c.366C>A (p.Phe122Leu) | |
2 | g.38070876A>C | CA346327070 | CYP1B1 | c.1478T>G (p.Phe493Cys) c.365T>G (p.Phe122Cys) | |
2 | g.38070876A>G | CA346327071 | CYP1B1 | c.1478T>C (p.Phe493Ser) c.365T>C (p.Phe122Ser) | gnomAD v3 gnomAD v4 |
2 | g.38070876A>T | CA346327072 | CYP1B1 | c.1478T>A (p.Phe493Tyr) c.365T>A (p.Phe122Tyr) | |
2 | g.38070877A>C | CA346327073 | CYP1B1 | c.1477T>G (p.Phe493Val) c.364T>G (p.Phe122Val) | |
2 | g.38070877A>G | CA346327074 | CYP1B1 | c.1477T>C (p.Phe493Leu) c.364T>C (p.Phe122Leu) | |
2 | g.38070877A>T | CA346327075 | CYP1B1 | c.1477T>A (p.Phe493Ile) c.364T>A (p.Phe122Ile) | |
2 | g.38070878A= | CA1245625993 | CYP1B1 | c.1476T= (p.Asp492=) c.363T= (p.Asp121=) | |
2 | g.38070878A>C | CA346327076 | CYP1B1 | c.1476T>G (p.Asp492Glu) c.363T>G (p.Asp121Glu) | |
2 | g.38070878A>G | CA1619772 | CYP1B1 | c.1476T>C (p.Asp492=) c.363T>C (p.Asp121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070878A>T | CA346327077 | CYP1B1 | c.1476T>A (p.Asp492Glu) c.363T>A (p.Asp121Glu) | |
2 | g.38070879T>A | CA346327080 | CYP1B1 | c.1475A>T (p.Asp492Val) c.362A>T (p.Asp121Val) | |
2 | g.38070879T>C | CA346327079 | CYP1B1 | c.1475A>G (p.Asp492Gly) c.362A>G (p.Asp121Gly) | |
2 | g.38070879T>G | CA346327078 | CYP1B1 | c.1475A>C (p.Asp492Ala) c.362A>C (p.Asp121Ala) | |
2 | g.38070880C>A | CA346327081 | CYP1B1 | c.1474G>T (p.Asp492Tyr) c.361G>T (p.Asp121Tyr) | gnomAD v4 |
2 | g.38070880C= | CA1245625994 | CYP1B1 | c.1474G= (p.Asp492=) c.361G= (p.Asp121=) | |
2 | g.38070880C>G | CA346327082 | CYP1B1 | c.1474G>C (p.Asp492His) c.361G>C (p.Asp121His) | dbSNP |
2 | g.38070880C>T | CA1619773 | CYP1B1 | c.1474G>A (p.Asp492Asn) c.361G>A (p.Asp121Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.38070881G>A | CA1619774 | CYP1B1 | c.1473C>T (p.Cys491=) c.360C>T (p.Cys120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070881G>C | CA346327083 | CYP1B1 | c.1473C>G (p.Cys491Trp) c.360C>G (p.Cys120Trp) | |
2 | g.38070881G= | CA1245625995 | CYP1B1 | c.1473C= (p.Cys491=) c.360C= (p.Cys120=) | |
2 | g.38070881G>T | CA346327084 | CYP1B1 | c.1473C>A (p.Cys491Ter) c.360C>A (p.Cys120Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070882C>A | CA346327085 | CYP1B1 | c.1472G>T (p.Cys491Phe) c.359G>T (p.Cys120Phe) | |
2 | g.38070882C= | CA1245625996 | CYP1B1 | c.1472G= (p.Cys491=) c.359G= (p.Cys120=) | |
2 | g.38070882C>G | CA346327086 | CYP1B1 | c.1472G>C (p.Cys491Ser) c.359G>C (p.Cys120Ser) | dbSNP |
2 | g.38070882C>T | CA346327087 | CYP1B1 | c.1472G>A (p.Cys491Tyr) c.359G>A (p.Cys120Tyr) | |
2 | g.38070883A= | CA1245625997 | CYP1B1 | c.1471T= (p.Cys491=) c.358T= (p.Cys120=) | |
2 | g.38070883A>C | CA346327088 | CYP1B1 | c.1471T>G (p.Cys491Gly) c.358T>G (p.Cys120Gly) | gnomAD v4 |
2 | g.38070883A>G | CA45505911 | CYP1B1 | c.1471T>C (p.Cys491Arg) c.358T>C (p.Cys120Arg) | dbSNP gnomAD v4 |
2 | g.38070883A>T | CA346327089 | CYP1B1 | c.1471T>A (p.Cys491Ser) c.358T>A (p.Cys120Ser) | |
2 | g.38070884C>A | CA346327090 | CYP1B1 | c.1470G>T (p.Gln490His) c.357G>T (p.Gln119His) | |
2 | g.38070884C= | CA1245625998 | CYP1B1 | c.1470G= (p.Gln490=) c.357G= (p.Gln119=) | |
2 | g.38070884C>G | CA346327091 | CYP1B1 | c.1470G>C (p.Gln490His) c.357G>C (p.Gln119His) | |
2 | g.38070884C>T | CA1619775 | CYP1B1 | c.1470G>A (p.Gln490=) c.357G>A (p.Gln119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38070885T>A | CA1619776 | CYP1B1 | c.1469A>T (p.Gln490Leu) c.356A>T (p.Gln119Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070885T>C | CA346327093 | CYP1B1 | c.1469A>G (p.Gln490Arg) c.356A>G (p.Gln119Arg) | |
2 | g.38070885T>G | CA346327092 | CYP1B1 | c.1469A>C (p.Gln490Pro) c.356A>C (p.Gln119Pro) | |
2 | g.38070885T= | CA1245625999 | CYP1B1 | c.1469A= (p.Gln490=) c.356A= (p.Gln119=) | |
2 | g.38070885dup | CA768461758 | CYP1B1 | c.1469dup (p.Cys491ValfsTer9) c.356dup (p.Cys120ValfsTer9) | dbSNP |
2 | g.38070886G>A | CA346327094 | CYP1B1 | c.1468C>T (p.Gln490Ter) c.355C>T (p.Gln119Ter) | |
2 | g.38070886G>C | CA346327095 | CYP1B1 | c.1468C>G (p.Gln490Glu) c.355C>G (p.Gln119Glu) | |
2 | g.38070886G>T | CA346327096 | CYP1B1 | c.1468C>A (p.Gln490Lys) c.355C>A (p.Gln119Lys) | |
2 | g.38070887G>A | CA425864445 | CYP1B1 | c.1467C>T (p.His489=) c.354C>T (p.His118=) | |
2 | g.38070887G>C | CA346327097 | CYP1B1 | c.1467C>G (p.His489Gln) c.354C>G (p.His118Gln) | gnomAD v4 |
2 | g.38070887G>T | CA346327098 | CYP1B1 | c.1467C>A (p.His489Gln) c.354C>A (p.His118Gln) | |
2 | g.38070888T>A | CA346327101 | CYP1B1 | c.1466A>T (p.His489Leu) c.353A>T (p.His118Leu) | |
2 | g.38070888T>C | CA346327100 | CYP1B1 | c.1466A>G (p.His489Arg) c.353A>G (p.His118Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070888T>G | CA346327099 | CYP1B1 | c.1466A>C (p.His489Pro) c.353A>C (p.His118Pro) | |
2 | g.38070888T= | CA1245626000 | CYP1B1 | c.1466A= (p.His489=) c.353A= (p.His118=) | |
2 | g.38070889G>A | CA45505916 | CYP1B1 | c.1465C>T (p.His489Tyr) c.352C>T (p.His118Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070889G>C | CA346327102 | CYP1B1 | c.1465C>G (p.His489Asp) c.352C>G (p.His118Asp) | |
2 | g.38070889G= | CA1245626001 | CYP1B1 | c.1465C= (p.His489=) c.352C= (p.His118=) | |
2 | g.38070889G>T | CA346327103 | CYP1B1 | c.1465C>A (p.His489Asn) c.352C>A (p.His118Asn) | |
2 | g.38070890A= | CA1245626002 | CYP1B1 | c.1464T= (p.Ala488=) c.351T= (p.Ala117=) | |
2 | g.38070890A>C | CA425864448 | CYP1B1 | c.1464T>G (p.Ala488=) c.351T>G (p.Ala117=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070890A>G | CA425864449 | CYP1B1 | c.1464T>C (p.Ala488=) c.351T>C (p.Ala117=) | |
2 | g.38070890A>T | CA425864450 | CYP1B1 | c.1464T>A (p.Ala488=) c.351T>A (p.Ala117=) | |
2 | g.38070891G>A | CA346327104 | CYP1B1 | c.1463C>T (p.Ala488Val) c.350C>T (p.Ala117Val) | |
2 | g.38070891G>C | CA346327105 | CYP1B1 | c.1463C>G (p.Ala488Gly) c.350C>G (p.Ala117Gly) | gnomAD v4 |
2 | g.38070891G>T | CA346327106 | CYP1B1 | c.1463C>A (p.Ala488Asp) c.350C>A (p.Ala117Asp) | |
2 | g.38070892C>A | CA346327107 | CYP1B1 | c.1462G>T (p.Ala488Ser) c.349G>T (p.Ala117Ser) | COSMIC |
2 | g.38070892C= | CA1245626003 | CYP1B1 | c.1462G= (p.Ala488=) c.349G= (p.Ala117=) | |
2 | g.38070892C>G | CA346327109 | CYP1B1 | c.1462G>C (p.Ala488Pro) c.349G>C (p.Ala117Pro) | dbSNP gnomAD v4 |
2 | g.38070892C>T | CA346327108 | CYP1B1 | c.1462G>A (p.Ala488Thr) c.349G>A (p.Ala117Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070893C>A | CA425864451 | CYP1B1 | c.1461G>T (p.Leu487=) c.348G>T (p.Leu116=) | |
2 | g.38070893C>G | CA425864452 | CYP1B1 | c.1461G>C (p.Leu487=) c.348G>C (p.Leu116=) | gnomAD v4 |
2 | g.38070893C>T | CA425864453 | CYP1B1 | c.1461G>A (p.Leu487=) c.348G>A (p.Leu116=) | gnomAD v4 COSMIC |
2 | g.38070894A= | CA1245626004 | CYP1B1 | c.1460T= (p.Leu487=) c.347T= (p.Leu116=) | |
2 | g.38070894A>C | CA346327110 | CYP1B1 | c.1460T>G (p.Leu487Arg) c.347T>G (p.Leu116Arg) | |
2 | g.38070894A>G | CA346327111 | CYP1B1 | c.1460T>C (p.Leu487Pro) c.347T>C (p.Leu116Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.38070894A>T | CA346327112 | CYP1B1 | c.1460T>A (p.Leu487Gln) c.347T>A (p.Leu116Gln) | |
2 | g.38070895G>A | CA425864455 | CYP1B1 | c.1459C>T (p.Leu487=) c.346C>T (p.Leu116=) | ClinVar gnomAD v4 |
2 | g.38070895G>C | CA346327113 | CYP1B1 | c.1459C>G (p.Leu487Val) c.346C>G (p.Leu116Val) | dbSNP gnomAD v4 |
2 | g.38070895G= | CA1245626005 | CYP1B1 | c.1459C= (p.Leu487=) c.346C= (p.Leu116=) | |
2 | g.38070895G>T | CA346327114 | CYP1B1 | c.1459C>A (p.Leu487Met) c.346C>A (p.Leu116Met) | |
2 | g.38070896G>A | CA425864456 | CYP1B1 | c.1458C>T (p.Ile486=) c.345C>T (p.Ile115=) | |
2 | g.38070896G>C | CA346327115 | CYP1B1 | c.1458C>G (p.Ile486Met) c.345C>G (p.Ile115Met) | |
2 | g.38070896G>T | CA425864457 | CYP1B1 | c.1458C>A (p.Ile486=) c.345C>A (p.Ile115=) | |
2 | g.38070897A>C | CA346327116 | CYP1B1 | c.1457T>G (p.Ile486Ser) c.344T>G (p.Ile115Ser) | |
2 | g.38070897A>G | CA346327117 | CYP1B1 | c.1457T>C (p.Ile486Thr) c.344T>C (p.Ile115Thr) | |
2 | g.38070897A>T | CA346327118 | CYP1B1 | c.1457T>A (p.Ile486Asn) c.344T>A (p.Ile115Asn) | |
2 | g.38070898T>A | CA346327119 | CYP1B1 | c.1456A>T (p.Ile486Phe) c.343A>T (p.Ile115Phe) | |
2 | g.38070898T>C | CA1619777 | CYP1B1 | c.1456A>G (p.Ile486Val) c.343A>G (p.Ile115Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38070898T>G | CA346327120 | CYP1B1 | c.1456A>C (p.Ile486Leu) c.343A>C (p.Ile115Leu) | |
2 | g.38070898T= | CA1245626006 | CYP1B1 | c.1456A= (p.Ile486=) c.343A= (p.Ile115=) | |
2 | g.38070899G>A | CA1619778 | CYP1B1 | c.1455C>T (p.Ser485=) c.342C>T (p.Ser114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070899G>C | CA425864462 | CYP1B1 | c.1455C>G (p.Ser485=) c.342C>G (p.Ser114=) | |
2 | g.38070899G= | CA1245626007 | CYP1B1 | c.1455C= (p.Ser485=) c.342C= (p.Ser114=) | |
2 | g.38070899G>T | CA425864464 | CYP1B1 | c.1455C>A (p.Ser485=) c.342C>A (p.Ser114=) | |
2 | g.38070900G>A | CA346327121 | CYP1B1 | c.1454C>T (p.Ser485Phe) c.341C>T (p.Ser114Phe) | |
2 | g.38070900G>C | CA1619779 | CYP1B1 | c.1454C>G (p.Ser485Cys) c.341C>G (p.Ser114Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070900G= | CA1245626008 | CYP1B1 | c.1454C= (p.Ser485=) c.341C= (p.Ser114=) | |
2 | g.38070900G>T | CA346327122 | CYP1B1 | c.1454C>A (p.Ser485Tyr) c.341C>A (p.Ser114Tyr) | |
2 | g.38070901A>C | CA346327123 | CYP1B1 | c.1453T>G (p.Ser485Ala) c.340T>G (p.Ser114Ala) | |
2 | g.38070901A>G | CA346327124 | CYP1B1 | c.1453T>C (p.Ser485Pro) c.340T>C (p.Ser114Pro) | ClinVar |
2 | g.38070901A>T | CA346327125 | CYP1B1 | c.1453T>A (p.Ser485Thr) c.340T>A (p.Ser114Thr) | |
2 | g.38070902G>A | CA425864467 | CYP1B1 | c.1452C>T (p.Ile484=) c.339C>T (p.Ile113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38070902G>C | CA346327126 | CYP1B1 | c.1452C>G (p.Ile484Met) c.339C>G (p.Ile113Met) | |
2 | g.38070902G= | CA1245626010 | CYP1B1 | c.1452C= (p.Ile484=) c.339C= (p.Ile113=) | |
2 | g.38070902G>T | CA425864466 | CYP1B1 | c.1452C>A (p.Ile484=) c.339C>A (p.Ile113=) | |
2 | g.38070902_38070903delinsGA | CA1245626009 | CYP1B1 | c.1451_1452delinsTC (p.Ile484=) c.338_339delinsTC (p.Ile113=) | |
2 | g.38070903del | CA532236892 | CYP1B1 | c.1451del (p.Ile484ThrfsTer20) c.338del (p.Ile113ThrfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070903A= | CA1245626011 | CYP1B1 | c.1451T= (p.Ile484=) c.338T= (p.Ile113=) | |
2 | g.38070903A>C | CA346327127 | CYP1B1 | c.1451T>G (p.Ile484Ser) c.338T>G (p.Ile113Ser) | |
2 | g.38070903A>G | CA346327128 | CYP1B1 | c.1451T>C (p.Ile484Thr) c.338T>C (p.Ile113Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38070903A>T | CA346327129 | CYP1B1 | c.1451T>A (p.Ile484Asn) c.338T>A (p.Ile113Asn) | |
2 | g.38070904T>A | CA346327130 | CYP1B1 | c.1450A>T (p.Ile484Phe) c.337A>T (p.Ile113Phe) | |
2 | g.38070904T>C | CA346327131 | CYP1B1 | c.1450A>G (p.Ile484Val) c.337A>G (p.Ile113Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38070904T>G | CA346327132 | CYP1B1 | c.1450A>C (p.Ile484Leu) c.337A>C (p.Ile113Leu) | |
2 | g.38070904T= | CA1245626012 | CYP1B1 | c.1450A= (p.Ile484=) c.337A= (p.Ile113=) | |
2 | g.38070905G>A | CA425864471 | CYP1B1 | c.1449C>T (p.Phe483=) c.336C>T (p.Phe112=) | |
2 | g.38070905G>C | CA346327133 | CYP1B1 | c.1449C>G (p.Phe483Leu) c.336C>G (p.Phe112Leu) | |
2 | g.38070905G>T | CA346327134 | CYP1B1 | c.1449C>A (p.Phe483Leu) c.336C>A (p.Phe112Leu) | |
2 | g.38070906A>C | CA346327137 | CYP1B1 | c.1448T>G (p.Phe483Cys) c.335T>G (p.Phe112Cys) | |
2 | g.38070906A>G | CA346327136 | CYP1B1 | c.1448T>C (p.Phe483Ser) c.335T>C (p.Phe112Ser) | |
2 | g.38070906A>T | CA346327135 | CYP1B1 | c.1448T>A (p.Phe483Tyr) c.335T>A (p.Phe112Tyr) |