Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38070850del | CA45505821 | CYP1B1 | c.1507del (p.Met503Ter) c.394del (p.Met132Ter) | dbSNP |
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) |