Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38071119T>A | CA346327583 | CYP1B1 | c.1235A>T (p.Tyr412Phe) n.613A>T c.122A>T (p.Tyr41Phe) | |
2 | g.38071119T>C | CA1619832 | CYP1B1 | c.1235A>G (p.Tyr412Cys) n.613A>G c.122A>G (p.Tyr41Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071119T>G | CA346327584 | CYP1B1 | c.1235A>C (p.Tyr412Ser) n.613A>C c.122A>C (p.Tyr41Ser) | |
2 | g.38071119T= | CA1245626129 | CYP1B1 | c.1235A= (p.Tyr412=) n.613A= c.122A= (p.Tyr41=) | |
2 | g.38071120A= | CA1245626130 | CYP1B1 | c.1234T= (p.Tyr412=) n.612T= c.121T= (p.Tyr41=) | |
2 | g.38071120A>C | CA346327585 | CYP1B1 | c.1234T>G (p.Tyr412Asp) n.612T>G c.121T>G (p.Tyr41Asp) | |
2 | g.38071120A>G | CA346327586 | CYP1B1 | c.1234T>C (p.Tyr412His) n.612T>C c.121T>C (p.Tyr41His) | |
2 | g.38071120A>T | CA346327587 | CYP1B1 | c.1234T>A (p.Tyr412Asn) n.612T>A c.121T>A (p.Tyr41Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071121G>A | CA45506435 | CYP1B1 | c.1233C>T (p.Gly411=) n.611C>T c.120C>T (p.Gly40=) | dbSNP |
2 | g.38071121G>C | CA425864551 | CYP1B1 | c.1233C>G (p.Gly411=) n.611C>G c.120C>G (p.Gly40=) | |
2 | g.38071121G= | CA1245626131 | CYP1B1 | c.1233C= (p.Gly411=) n.611C= c.120C= (p.Gly40=) | |
2 | g.38071121G>T | CA425864552 | CYP1B1 | c.1233C>A (p.Gly411=) n.611C>A c.120C>A (p.Gly40=) | |
2 | g.38071122C>A | CA346327588 | CYP1B1 | c.1232G>T (p.Gly411Val) n.610G>T c.119G>T (p.Gly40Val) | |
2 | g.38071122C>G | CA346327589 | CYP1B1 | c.1232G>C (p.Gly411Ala) n.610G>C c.119G>C (p.Gly40Ala) | |
2 | g.38071122C>T | CA346327590 | CYP1B1 | c.1232G>A (p.Gly411Asp) n.610G>A c.119G>A (p.Gly40Asp) | gnomAD v4 |
2 | g.38071123C>A | CA346327591 | CYP1B1 | c.1231G>T (p.Gly411Cys) n.609G>T c.118G>T (p.Gly40Cys) | |
2 | g.38071123C>G | CA346327592 | CYP1B1 | c.1231G>C (p.Gly411Arg) n.609G>C c.118G>C (p.Gly40Arg) | |
2 | g.38071123C>T | CA346327593 | CYP1B1 | c.1231G>A (p.Gly411Ser) n.609G>A c.118G>A (p.Gly40Ser) | gnomAD v4 |
2 | g.38071124C>A | CA346327594 | CYP1B1 | c.1230G>T (p.Leu410Phe) n.608G>T c.117G>T (p.Leu39Phe) | dbSNP |
2 | g.38071124C>G | CA346327595 | CYP1B1 | c.1230G>C (p.Leu410Phe) n.608G>C c.117G>C (p.Leu39Phe) | |
2 | g.38071124C>T | CA425864553 | CYP1B1 | c.1230G>A (p.Leu410=) n.608G>A c.117G>A (p.Leu39=) | gnomAD v4 |
2 | g.38071125A>C | CA346327596 | CYP1B1 | c.1229T>G (p.Leu410Trp) n.607T>G c.116T>G (p.Leu39Trp) | |
2 | g.38071125A>G | CA346327598 | CYP1B1 | c.1229T>C (p.Leu410Ser) n.607T>C c.116T>C (p.Leu39Ser) | |
2 | g.38071125A>T | CA346327597 | CYP1B1 | c.1229T>A (p.Leu410Ter) n.607T>A c.116T>A (p.Leu39Ter) | |
2 | g.38071126A>C | CA346327599 | CYP1B1 | c.1228T>G (p.Leu410Val) n.606T>G c.115T>G (p.Leu39Val) | |
2 | g.38071126A>G | CA425864555 | CYP1B1 | c.1228T>C (p.Leu410=) n.606T>C c.115T>C (p.Leu39=) | |
2 | g.38071126A>T | CA346327600 | CYP1B1 | c.1228T>A (p.Leu410Met) n.606T>A c.115T>A (p.Leu39Met) | |
2 | g.38071127G>A | CA425864556 | CYP1B1 | c.1227C>T (p.Val409=) n.605C>T c.114C>T (p.Val38=) | |
2 | g.38071127G>C | CA1619833 | CYP1B1 | c.1227C>G (p.Val409=) n.605C>G c.114C>G (p.Val38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071127G= | CA1245626132 | CYP1B1 | c.1227C= (p.Val409=) n.605C= c.114C= (p.Val38=) | |
2 | g.38071127G>T | CA425864557 | CYP1B1 | c.1227C>A (p.Val409=) n.605C>A c.114C>A (p.Val38=) | |
2 | g.38071128A>C | CA346327601 | CYP1B1 | c.1226T>G (p.Val409Gly) n.604T>G c.113T>G (p.Val38Gly) | |
2 | g.38071128A>G | CA346327602 | CYP1B1 | c.1226T>C (p.Val409Ala) n.604T>C c.113T>C (p.Val38Ala) | gnomAD v4 |
2 | g.38071128A>T | CA346327603 | CYP1B1 | c.1226T>A (p.Val409Asp) n.604T>A c.113T>A (p.Val38Asp) | |
2 | g.38071129C>A | CA45506456 | CYP1B1 | c.1225G>T (p.Val409Phe) n.603G>T c.112G>T (p.Val38Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071129C= | CA1245626133 | CYP1B1 | c.1225G= (p.Val409=) n.603G= c.112G= (p.Val38=) | |
2 | g.38071129C>G | CA346327604 | CYP1B1 | c.1225G>C (p.Val409Leu) n.603G>C c.112G>C (p.Val38Leu) | |
2 | g.38071129C>T | CA346327605 | CYP1B1 | c.1225G>A (p.Val409Ile) n.603G>A c.112G>A (p.Val38Ile) | |
2 | g.38071129_38071131delinsCAG | CA1245626134 | CYP1B1 | c.1223_1225delinsCTG (p.Ser408=) n.601_603delinsCTG c.110_112delinsCTG (p.Ser37=) | |
2 | g.38071130A>C | CA425864558 | CYP1B1 | c.1224T>G (p.Ser408=) n.602T>G c.111T>G (p.Ser37=) | |
2 | g.38071130A>G | CA425864559 | CYP1B1 | c.1224T>C (p.Ser408=) n.602T>C c.111T>C (p.Ser37=) | |
2 | g.38071130A>T | CA425864560 | CYP1B1 | c.1224T>A (p.Ser408=) n.602T>A c.111T>A (p.Ser37=) | |
2 | g.38071132_38071133del | CA768462345 | CYP1B1 | c.1223_1224del (p.Ser408CysfsTer22) n.601_602del c.110_111del (p.Ser37CysfsTer22) | ClinVar dbSNP gnomAD v4 |
2 | g.38071131G>A | CA346327607 | CYP1B1 | c.1223C>T (p.Ser408Phe) n.601C>T c.110C>T (p.Ser37Phe) | |
2 | g.38071131G>C | CA346327608 | CYP1B1 | c.1223C>G (p.Ser408Cys) n.601C>G c.110C>G (p.Ser37Cys) | |
2 | g.38071131G>T | CA346327606 | CYP1B1 | c.1223C>A (p.Ser408Tyr) n.601C>A c.110C>A (p.Ser37Tyr) | |
2 | g.38071132A>C | CA346327609 | CYP1B1 | c.1222T>G (p.Ser408Ala) n.600T>G c.109T>G (p.Ser37Ala) | |
2 | g.38071132A>G | CA346327610 | CYP1B1 | c.1222T>C (p.Ser408Pro) n.600T>C c.109T>C (p.Ser37Pro) | |
2 | g.38071132A>T | CA346327611 | CYP1B1 | c.1222T>A (p.Ser408Thr) n.600T>A c.109T>A (p.Ser37Thr) | |
2 | g.38071133G>A | CA425864564 | CYP1B1 | c.1221C>T (p.Thr407=) n.599C>T c.108C>T (p.Thr36=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071133G>C | CA425864563 | CYP1B1 | c.1221C>G (p.Thr407=) n.599C>G c.108C>G (p.Thr36=) | |
2 | g.38071133G= | CA1245626135 | CYP1B1 | c.1221C= (p.Thr407=) n.599C= c.108C= (p.Thr36=) | |
2 | g.38071133G>T | CA425864562 | CYP1B1 | c.1221C>A (p.Thr407=) n.599C>A c.108C>A (p.Thr36=) | |
2 | g.38071134G>A | CA1619834 | CYP1B1 | c.1220C>T (p.Thr407Ile) n.598C>T c.107C>T (p.Thr36Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.38071134G>C | CA346327612 | CYP1B1 | c.1220C>G (p.Thr407Ser) n.598C>G c.107C>G (p.Thr36Ser) | gnomAD v4 |
2 | g.38071134G= | CA1245626136 | CYP1B1 | c.1220C= (p.Thr407=) n.598C= c.107C= (p.Thr36=) | |
2 | g.38071134G>T | CA346327613 | CYP1B1 | c.1220C>A (p.Thr407Asn) n.598C>A c.107C>A (p.Thr36Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071135T>A | CA346327615 | CYP1B1 | c.1219A>T (p.Thr407Ser) n.597A>T c.106A>T (p.Thr36Ser) | |
2 | g.38071135T>C | CA1619835 | CYP1B1 | c.1219A>G (p.Thr407Ala) n.597A>G c.106A>G (p.Thr36Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071135T>G | CA346327614 | CYP1B1 | c.1219A>C (p.Thr407Pro) n.597A>C c.106A>C (p.Thr36Pro) | |
2 | g.38071135T= | CA1245626137 | CYP1B1 | c.1219A= (p.Thr407=) n.597A= c.106A= (p.Thr36=) | |
2 | g.38071136G>A | CA425864565 | CYP1B1 | c.1218C>T (p.Asn406=) n.596C>T c.105C>T (p.Asn35=) | |
2 | g.38071136G>C | CA346327616 | CYP1B1 | c.1218C>G (p.Asn406Lys) n.596C>G c.105C>G (p.Asn35Lys) | |
2 | g.38071136G>T | CA346327617 | CYP1B1 | c.1218C>A (p.Asn406Lys) n.596C>A c.105C>A (p.Asn35Lys) | |
2 | g.38071137T>A | CA346327618 | CYP1B1 | c.1217A>T (p.Asn406Ile) n.595A>T c.104A>T (p.Asn35Ile) | gnomAD v4 |
2 | g.38071137T>C | CA346327619 | CYP1B1 | c.1217A>G (p.Asn406Ser) n.595A>G c.104A>G (p.Asn35Ser) | |
2 | g.38071137T>G | CA346327620 | CYP1B1 | c.1217A>C (p.Asn406Thr) n.595A>C c.104A>C (p.Asn35Thr) | dbSNP |
2 | g.38071137T= | CA1245626138 | CYP1B1 | c.1217A= (p.Asn406=) n.595A= c.104A= (p.Asn35=) | |
2 | g.38071138T>A | CA346327621 | CYP1B1 | c.1216A>T (p.Asn406Tyr) n.594A>T c.103A>T (p.Asn35Tyr) | |
2 | g.38071138T>C | CA346327623 | CYP1B1 | c.1216A>G (p.Asn406Asp) n.594A>G c.103A>G (p.Asn35Asp) | |
2 | g.38071138T>G | CA346327622 | CYP1B1 | c.1216A>C (p.Asn406His) n.594A>C c.103A>C (p.Asn35His) | dbSNP |
2 | g.38071139G>A | CA425864569 | CYP1B1 | c.1215C>T (p.Ala405=) n.593C>T c.102C>T (p.Ala34=) | |
2 | g.38071139G>C | CA425864566 | CYP1B1 | c.1215C>G (p.Ala405=) n.593C>G c.102C>G (p.Ala34=) | |
2 | g.38071139G>T | CA425864567 | CYP1B1 | c.1215C>A (p.Ala405=) n.593C>A c.102C>A (p.Ala34=) | gnomAD v4 |
2 | g.38071140G>A | CA1619836 | CYP1B1 | c.1214C>T (p.Ala405Val) n.592C>T c.101C>T (p.Ala34Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071140G>C | CA346327624 | CYP1B1 | c.1214C>G (p.Ala405Gly) n.592C>G c.101C>G (p.Ala34Gly) | |
2 | g.38071140G= | CA1245626139 | CYP1B1 | c.1214C= (p.Ala405=) n.592C= c.101C= (p.Ala34=) | |
2 | g.38071140G>T | CA346327625 | CYP1B1 | c.1214C>A (p.Ala405Asp) n.592C>A c.101C>A (p.Ala34Asp) | |
2 | g.38071141C>A | CA346327626 | CYP1B1 | c.1213G>T (p.Ala405Ser) n.591G>T c.100G>T (p.Ala34Ser) | |
2 | g.38071141C= | CA1245626140 | CYP1B1 | c.1213G= (p.Ala405=) n.591G= c.100G= (p.Ala34=) | |
2 | g.38071141C>G | CA346327627 | CYP1B1 | c.1213G>C (p.Ala405Pro) n.591G>C c.100G>C (p.Ala34Pro) | |
2 | g.38071141C>T | CA1619837 | CYP1B1 | c.1213G>A (p.Ala405Thr) n.591G>A c.100G>A (p.Ala34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071142A>C | CA425864571 | CYP1B1 | c.1212T>G (p.Thr404=) n.590T>G c.99T>G (p.Thr33=) | |
2 | g.38071142A>G | CA425864572 | CYP1B1 | c.1212T>C (p.Thr404=) n.590T>C c.99T>C (p.Thr33=) | ClinVar |
2 | g.38071142A>T | CA425864573 | CYP1B1 | c.1212T>A (p.Thr404=) n.590T>A c.99T>A (p.Thr33=) | |
2 | g.38071143G>A | CA346327628 | CYP1B1 | c.1211C>T (p.Thr404Ile) n.589C>T c.98C>T (p.Thr33Ile) | dbSNP |
2 | g.38071143G>C | CA346327629 | CYP1B1 | c.1211C>G (p.Thr404Ser) n.589C>G c.98C>G (p.Thr33Ser) | |
2 | g.38071143G= | CA1245626141 | CYP1B1 | c.1211C= (p.Thr404=) n.589C= c.98C= (p.Thr33=) | |
2 | g.38071143G>T | CA346327630 | CYP1B1 | c.1211C>A (p.Thr404Asn) n.589C>A c.98C>A (p.Thr33Asn) | |
2 | g.38071144_38071145del | CA2658667729 | CYP1B1 | c.1210_1211del (p.Thr404CysfsTer26) n.588_589del c.97_98del (p.Thr33CysfsTer26) | gnomAD v4 |
2 | g.38071144_38071153dup | CA2586969066 | CYP1B1 | c.1202_1211dup (p.Ala405CysfsTer29) n.580_589dup c.89_98dup (p.Ala34CysfsTer29) | |
2 | g.38071144T>A | CA346327631 | CYP1B1 | c.1210A>T (p.Thr404Ser) n.588A>T c.97A>T (p.Thr33Ser) | dbSNP gnomAD v2 |
2 | g.38071144T>C | CA346327632 | CYP1B1 | c.1210A>G (p.Thr404Ala) n.588A>G c.97A>G (p.Thr33Ala) | |
2 | g.38071144T>G | CA346327633 | CYP1B1 | c.1210A>C (p.Thr404Pro) n.588A>C c.97A>C (p.Thr33Pro) | |
2 | g.38071144T= | CA1245626143 | CYP1B1 | c.1210A= (p.Thr404=) n.588A= c.97A= (p.Thr33=) | |
2 | g.38071144dup | CA768462386 | CYP1B1 | c.1210dup (p.Thr404AsnfsTer27) n.588dup c.97dup (p.Thr33AsnfsTer27) | dbSNP |
2 | g.38071144_38071154delinsTGGTGGCATGA | CA1245626142 | CYP1B1 | c.1200_1210delinsTCATGCCACCA (p.Pro400=) n.578_588delinsTCATGCCACCA c.87_97delinsTCATGCCACCA (p.Pro29=) | |
2 | g.38071145G>A | CA425864574 | CYP1B1 | c.1209C>T (p.Thr403=) n.587C>T c.96C>T (p.Thr32=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071145G>C | CA425864576 | CYP1B1 | c.1209C>G (p.Thr403=) n.587C>G c.96C>G (p.Thr32=) | |
2 | g.38071145G= | CA1245626144 | CYP1B1 | c.1209C= (p.Thr403=) n.587C= c.96C= (p.Thr32=) | |
2 | g.38071145G>T | CA425864578 | CYP1B1 | c.1209C>A (p.Thr403=) n.587C>A c.96C>A (p.Thr32=) | |
2 | g.38071147_38071156dup | CA145181 | CYP1B1 | c.1200_1209dup (p.Thr404SerfsTer30) n.578_587dup c.87_96dup (p.Thr33SerfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.38071145_38071156dup | CA2586969067 | CYP1B1 | c.1198_1209dup (p.Thr403_Thr404insProHisAlaThr) n.576_587dup c.85_96dup (p.Thr32_Thr33insProHisAlaThr) | |
2 | g.38071147_38071156del | CA45506498 | CYP1B1 | c.1200_1209del (p.His401LeufsTer24) n.578_587del c.87_96del (p.His30LeufsTer24) | dbSNP |
2 | g.38071146G>A | CA346327635 | CYP1B1 | c.1208C>T (p.Thr403Ile) n.586C>T c.95C>T (p.Thr32Ile) | dbSNP |
2 | g.38071146G>C | CA346327634 | CYP1B1 | c.1208C>G (p.Thr403Ser) n.586C>G c.95C>G (p.Thr32Ser) | |
2 | g.38071146G= | CA1245626145 | CYP1B1 | c.1208C= (p.Thr403=) n.586C= c.95C= (p.Thr32=) | |
2 | g.38071146G>T | CA346327636 | CYP1B1 | c.1208C>A (p.Thr403Asn) n.586C>A c.95C>A (p.Thr32Asn) | |
2 | g.38071147T>A | CA346327637 | CYP1B1 | c.1207A>T (p.Thr403Ser) n.585A>T c.94A>T (p.Thr32Ser) | |
2 | g.38071147T>C | CA346327638 | CYP1B1 | c.1207A>G (p.Thr403Ala) n.585A>G c.94A>G (p.Thr32Ala) | |
2 | g.38071147T>G | CA346327639 | CYP1B1 | c.1207A>C (p.Thr403Pro) n.585A>C c.94A>C (p.Thr32Pro) | |
2 | g.38071148G>A | CA425864581 | CYP1B1 | c.1206C>T (p.Ala402=) n.584C>T c.93C>T (p.Ala31=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071148G>C | CA425864582 | CYP1B1 | c.1206C>G (p.Ala402=) n.584C>G c.93C>G (p.Ala31=) | |
2 | g.38071148G= | CA1245626146 | CYP1B1 | c.1206C= (p.Ala402=) n.584C= c.93C= (p.Ala31=) | |
2 | g.38071148G>T | CA425864583 | CYP1B1 | c.1206C>A (p.Ala402=) n.584C>A c.93C>A (p.Ala31=) | |
2 | g.38071149G>A | CA346327640 | CYP1B1 | c.1205C>T (p.Ala402Val) n.583C>T c.92C>T (p.Ala31Val) | dbSNP gnomAD v2 |
2 | g.38071149G>C | CA346327641 | CYP1B1 | c.1205C>G (p.Ala402Gly) n.583C>G c.92C>G (p.Ala31Gly) | |
2 | g.38071149G= | CA1245626147 | CYP1B1 | c.1205C= (p.Ala402=) n.583C= c.92C= (p.Ala31=) | |
2 | g.38071149G>T | CA346327642 | CYP1B1 | c.1205C>A (p.Ala402Asp) n.583C>A c.92C>A (p.Ala31Asp) | gnomAD v4 |
2 | g.38071150C>A | CA346327644 | CYP1B1 | c.1204G>T (p.Ala402Ser) n.582G>T c.91G>T (p.Ala31Ser) | |
2 | g.38071150C= | CA1245626148 | CYP1B1 | c.1204G= (p.Ala402=) n.582G= c.91G= (p.Ala31=) | |
2 | g.38071150C>G | CA45506501 | CYP1B1 | c.1204G>C (p.Ala402Pro) n.582G>C c.91G>C (p.Ala31Pro) | dbSNP gnomAD v4 |
2 | g.38071150C>T | CA346327643 | CYP1B1 | c.1204G>A (p.Ala402Thr) n.582G>A c.91G>A (p.Ala31Thr) | gnomAD v4 |
2 | g.38071151A>C | CA346327645 | CYP1B1 | c.1203T>G (p.His401Gln) n.581T>G c.90T>G (p.His30Gln) | |
2 | g.38071151A>G | CA425864587 | CYP1B1 | c.1203T>C (p.His401=) n.581T>C c.90T>C (p.His30=) | |
2 | g.38071151A>T | CA346327646 | CYP1B1 | c.1203T>A (p.His401Gln) n.581T>A c.90T>A (p.His30Gln) | |
2 | g.38071152T>A | CA346327647 | CYP1B1 | c.1202A>T (p.His401Leu) n.580A>T c.89A>T (p.His30Leu) | |
2 | g.38071152T>C | CA10615175 | CYP1B1 | c.1202A>G (p.His401Arg) n.580A>G c.89A>G (p.His30Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071152T>G | CA346327648 | CYP1B1 | c.1202A>C (p.His401Pro) n.580A>C c.89A>C (p.His30Pro) | dbSNP |
2 | g.38071152T= | CA1245626149 | CYP1B1 | c.1202A= (p.His401=) n.580A= c.89A= (p.His30=) | |
2 | g.38071153G>A | CA346327649 | CYP1B1 | c.1201C>T (p.His401Tyr) n.579C>T c.88C>T (p.His30Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071153G>C | CA346327651 | CYP1B1 | c.1201C>G (p.His401Asp) n.579C>G c.88C>G (p.His30Asp) | |
2 | g.38071153G= | CA1245626150 | CYP1B1 | c.1201C= (p.His401=) n.579C= c.88C= (p.His30=) | |
2 | g.38071153G>T | CA346327650 | CYP1B1 | c.1201C>A (p.His401Asn) n.579C>A c.88C>A (p.His30Asn) | |
2 | g.38071154A>C | CA425864591 | CYP1B1 | c.1200T>G (p.Pro400=) n.578T>G c.87T>G (p.Pro29=) | |
2 | g.38071154A>G | CA425864593 | CYP1B1 | c.1200T>C (p.Pro400=) n.578T>C c.87T>C (p.Pro29=) | |
2 | g.38071154A>T | CA425864589 | CYP1B1 | c.1200T>A (p.Pro400=) n.578T>A c.87T>A (p.Pro29=) | |
2 | g.38071156_38071161del | CA2586969068 | CYP1B1 | c.1195_1200del (p.Ile399_Pro400del) n.573_578del c.82_87del (p.Ile28_Pro29del) | |
2 | g.38071155G>A | CA346327652 | CYP1B1 | c.1199C>T (p.Pro400Leu) n.577C>T c.86C>T (p.Pro29Leu) | |
2 | g.38071155G>C | CA346327653 | CYP1B1 | c.1199C>G (p.Pro400Arg) n.577C>G c.86C>G (p.Pro29Arg) | |
2 | g.38071155G>T | CA346327654 | CYP1B1 | c.1199C>A (p.Pro400His) n.577C>A c.86C>A (p.Pro29His) | |
2 | g.38071156G>A | CA1619838 | CYP1B1 | c.1198C>T (p.Pro400Ser) n.576C>T c.85C>T (p.Pro29Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.38071156G>C | CA346327655 | CYP1B1 | c.1198C>G (p.Pro400Ala) n.576C>G c.85C>G (p.Pro29Ala) | |
2 | g.38071156G= | CA1245626151 | CYP1B1 | c.1198C= (p.Pro400=) n.576C= c.85C= (p.Pro29=) | |
2 | g.38071156G>T | CA346327656 | CYP1B1 | c.1198C>A (p.Pro400Thr) n.576C>A c.85C>A (p.Pro29Thr) | dbSNP gnomAD v4 |
2 | g.38071157A>C | CA346327657 | CYP1B1 | c.1197T>G (p.Ile399Met) n.575T>G c.84T>G (p.Ile28Met) | |
2 | g.38071157A>G | CA425864596 | CYP1B1 | c.1197T>C (p.Ile399=) n.575T>C c.84T>C (p.Ile28=) | |
2 | g.38071157A>T | CA425864595 | CYP1B1 | c.1197T>A (p.Ile399=) n.575T>A c.84T>A (p.Ile28=) | |
2 | g.38071158A= | CA1245626152 | CYP1B1 | c.1196T= (p.Ile399=) n.574T= c.83T= (p.Ile28=) | |
2 | g.38071158A>C | CA45506514 | CYP1B1 | c.1196T>G (p.Ile399Ser) n.574T>G c.83T>G (p.Ile28Ser) | dbSNP |
2 | g.38071158A>G | CA346327658 | CYP1B1 | c.1196T>C (p.Ile399Thr) n.574T>C c.83T>C (p.Ile28Thr) | |
2 | g.38071158A>T | CA346327659 | CYP1B1 | c.1196T>A (p.Ile399Asn) n.574T>A c.83T>A (p.Ile28Asn) | |
2 | g.38071159T>A | CA346327661 | CYP1B1 | c.1195A>T (p.Ile399Phe) n.573A>T c.82A>T (p.Ile28Phe) | |
2 | g.38071159T>C | CA1619839 | CYP1B1 | c.1195A>G (p.Ile399Val) n.573A>G c.82A>G (p.Ile28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071159T>G | CA346327660 | CYP1B1 | c.1195A>C (p.Ile399Leu) n.573A>C c.82A>C (p.Ile28Leu) | |
2 | g.38071159T= | CA1245626153 | CYP1B1 | c.1195A= (p.Ile399=) n.573A= c.82A= (p.Ile28=) | |
2 | g.38071160A= | CA1245626154 | CYP1B1 | c.1194T= (p.Thr398=) n.572T= c.81T= (p.Thr27=) | |
2 | g.38071160A>C | CA425864599 | CYP1B1 | c.1194T>G (p.Thr398=) n.572T>G c.81T>G (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071160A>G | CA425864601 | CYP1B1 | c.1194T>C (p.Thr398=) n.572T>C c.81T>C (p.Thr27=) | |
2 | g.38071160A>T | CA425864600 | CYP1B1 | c.1194T>A (p.Thr398=) n.572T>A c.81T>A (p.Thr27=) | |
2 | g.38071161G>A | CA346327662 | CYP1B1 | c.1193C>T (p.Thr398Ile) n.571C>T c.80C>T (p.Thr27Ile) | dbSNP |
2 | g.38071161G>C | CA346327663 | CYP1B1 | c.1193C>G (p.Thr398Ser) n.571C>G c.80C>G (p.Thr27Ser) | gnomAD v4 |
2 | g.38071161G= | CA1245626155 | CYP1B1 | c.1193C= (p.Thr398=) n.571C= c.80C= (p.Thr27=) | |
2 | g.38071161G>T | CA346327664 | CYP1B1 | c.1193C>A (p.Thr398Asn) n.571C>A c.80C>A (p.Thr27Asn) | |
2 | g.38071162T>A | CA346327665 | CYP1B1 | c.1192A>T (p.Thr398Ser) n.570A>T c.79A>T (p.Thr27Ser) | |
2 | g.38071162T>C | CA346327666 | CYP1B1 | c.1192A>G (p.Thr398Ala) n.570A>G c.79A>G (p.Thr27Ala) | |
2 | g.38071162T>G | CA346327667 | CYP1B1 | c.1192A>C (p.Thr398Pro) n.570A>C c.79A>C (p.Thr27Pro) | |
2 | g.38071163G>A | CA425864602 | CYP1B1 | c.1191C>T (p.Val397=) n.569C>T c.78C>T (p.Val26=) | ClinVar |
2 | g.38071163G>C | CA425864603 | CYP1B1 | c.1191C>G (p.Val397=) n.569C>G c.78C>G (p.Val26=) | |
2 | g.38071163G>T | CA425864604 | CYP1B1 | c.1191C>A (p.Val397=) n.569C>A c.78C>A (p.Val26=) | |
2 | g.38071164A= | CA1245626156 | CYP1B1 | c.1190T= (p.Val397=) n.568T= c.77T= (p.Val26=) | |
2 | g.38071164A>C | CA346327668 | CYP1B1 | c.1190T>G (p.Val397Gly) n.568T>G c.77T>G (p.Val26Gly) | |
2 | g.38071164A>G | CA346327669 | CYP1B1 | c.1190T>C (p.Val397Ala) n.568T>C c.77T>C (p.Val26Ala) | |
2 | g.38071164A>T | CA1619840 | CYP1B1 | c.1190T>A (p.Val397Asp) n.568T>A c.77T>A (p.Val26Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071165C>A | CA346327670 | CYP1B1 | c.1189G>T (p.Val397Phe) n.567G>T c.76G>T (p.Val26Phe) | |
2 | g.38071165C= | CA1245626157 | CYP1B1 | c.1189G= (p.Val397=) n.567G= c.76G= (p.Val26=) | |
2 | g.38071165C>G | CA346327671 | CYP1B1 | c.1189G>C (p.Val397Leu) n.567G>C c.76G>C (p.Val26Leu) | dbSNP gnomAD v4 |
2 | g.38071165C>T | CA346327672 | CYP1B1 | c.1189G>A (p.Val397Ile) n.567G>A c.76G>A (p.Val26Ile) | |
2 | g.38071166A>C | CA425864608 | CYP1B1 | c.1188T>G (p.Pro396=) n.566T>G c.75T>G (p.Pro25=) | |
2 | g.38071166A>G | CA425864609 | CYP1B1 | c.1188T>C (p.Pro396=) n.566T>C c.75T>C (p.Pro25=) | |
2 | g.38071166A>T | CA425864610 | CYP1B1 | c.1188T>A (p.Pro396=) n.566T>A c.75T>A (p.Pro25=) | |
2 | g.38071166_38071167del | CA2658667731 | CYP1B1 | c.1187_1188del (p.Pro396ArgfsTer?) n.565_566del c.74_75del (p.Pro25ArgfsTer?) | gnomAD v4 |
2 | g.38071167G>A | CA346327675 | CYP1B1 | c.1187C>T (p.Pro396Leu) n.565C>T c.74C>T (p.Pro25Leu) | |
2 | g.38071167G>C | CA346327674 | CYP1B1 | c.1187C>G (p.Pro396Arg) n.565C>G c.74C>G (p.Pro25Arg) | |
2 | g.38071167G>T | CA346327673 | CYP1B1 | c.1187C>A (p.Pro396His) n.565C>A c.74C>A (p.Pro25His) | gnomAD v4 |
2 | g.38071168G>A | CA346327676 | CYP1B1 | c.1186C>T (p.Pro396Ser) n.564C>T c.73C>T (p.Pro25Ser) | gnomAD v4 |
2 | g.38071168G>C | CA346327677 | CYP1B1 | c.1186C>G (p.Pro396Ala) n.564C>G c.73C>G (p.Pro25Ala) | |
2 | g.38071168G>T | CA346327678 | CYP1B1 | c.1186C>A (p.Pro396Thr) n.564C>A c.73C>A (p.Pro25Thr) | gnomAD v4 |
2 | g.38071169C>A | CA425864613 | CYP1B1 | c.1185G>T (p.Val395=) n.563G>T c.72G>T (p.Val24=) | ClinVar dbSNP |
2 | g.38071169C= | CA1245626158 | CYP1B1 | c.1185G= (p.Val395=) n.563G= c.72G= (p.Val24=) | |
2 | g.38071169C>G | CA425864615 | CYP1B1 | c.1185G>C (p.Val395=) n.563G>C c.72G>C (p.Val24=) | |
2 | g.38071169C>T | CA425864616 | CYP1B1 | c.1185G>A (p.Val395=) n.563G>A c.72G>A (p.Val24=) | |
2 | g.38071170A= | CA1245626159 | CYP1B1 | c.1184T= (p.Val395=) n.562T= c.71T= (p.Val24=) | |
2 | g.38071170A>C | CA346327679 | CYP1B1 | c.1184T>G (p.Val395Gly) n.562T>G c.71T>G (p.Val24Gly) | |
2 | g.38071170A>G | CA1619841 | CYP1B1 | c.1184T>C (p.Val395Ala) n.562T>C c.71T>C (p.Val24Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071170A>T | CA346327680 | CYP1B1 | c.1184T>A (p.Val395Glu) n.562T>A c.71T>A (p.Val24Glu) | |
2 | g.38071171C>A | CA346327681 | CYP1B1 | c.1183G>T (p.Val395Leu) n.561G>T c.70G>T (p.Val24Leu) | gnomAD v4 |
2 | g.38071171C= | CA1245626160 | CYP1B1 | c.1183G= (p.Val395=) n.561G= c.70G= (p.Val24=) | |
2 | g.38071171C>G | CA1619842 | CYP1B1 | c.1183G>C (p.Val395Leu) n.561G>C c.70G>C (p.Val24Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071171C>T | CA346327682 | CYP1B1 | c.1183G>A (p.Val395Met) n.561G>A c.70G>A (p.Val24Met) | |
2 | g.38071172A= | CA1245626161 | CYP1B1 | c.1182T= (p.Phe394=) n.560T= c.69T= (p.Phe23=) | |
2 | g.38071172A>C | CA346327683 | CYP1B1 | c.1182T>G (p.Phe394Leu) n.560T>G c.69T>G (p.Phe23Leu) | |
2 | g.38071172A>G | CA1619843 | CYP1B1 | c.1182T>C (p.Phe394=) n.560T>C c.69T>C (p.Phe23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071172A>T | CA346327684 | CYP1B1 | c.1182T>A (p.Phe394Leu) n.560T>A c.69T>A (p.Phe23Leu) | |
2 | g.38071173A>C | CA346327687 | CYP1B1 | c.1181T>G (p.Phe394Cys) n.559T>G c.68T>G (p.Phe23Cys) | |
2 | g.38071173A>G | CA346327686 | CYP1B1 | c.1181T>C (p.Phe394Ser) n.559T>C c.68T>C (p.Phe23Ser) | |
2 | g.38071173A>T | CA346327685 | CYP1B1 | c.1181T>A (p.Phe394Tyr) n.559T>A c.68T>A (p.Phe23Tyr) | |
2 | g.38071174A>C | CA346327688 | CYP1B1 | c.1180T>G (p.Phe394Val) n.558T>G c.67T>G (p.Phe23Val) | |
2 | g.38071174A>G | CA346327689 | CYP1B1 | c.1180T>C (p.Phe394Leu) n.558T>C c.67T>C (p.Phe23Leu) | |
2 | g.38071174A>T | CA346327690 | CYP1B1 | c.1180T>A (p.Phe394Ile) n.558T>A c.67T>A (p.Phe23Ile) | |
2 | g.38071175G>A | CA425690743 | CYP1B1 | c.1179C>T (p.Ser393=) n.557C>T c.66C>T (p.Ser22=) | |
2 | g.38071175G>C | CA346327691 | CYP1B1 | c.1179C>G (p.Ser393Arg) n.557C>G c.66C>G (p.Ser22Arg) | gnomAD v4 |
2 | g.38071175G>T | CA346327692 | CYP1B1 | c.1179C>A (p.Ser393Arg) n.557C>A c.66C>A (p.Ser22Arg) | |
2 | g.38071176C>A | CA346327693 | CYP1B1 | c.1178G>T (p.Ser393Ile) n.556G>T c.65G>T (p.Ser22Ile) n.573G>T | |
2 | g.38071176C>G | CA346327694 | CYP1B1 | c.1178G>C (p.Ser393Thr) n.556G>C c.65G>C (p.Ser22Thr) n.573G>C | |
2 | g.38071176C>T | CA346327695 | CYP1B1 | c.1178G>A (p.Ser393Asn) n.556G>A c.65G>A (p.Ser22Asn) n.573G>A | |
2 | g.38071177T>A | CA346327696 | CYP1B1 | c.1177A>T (p.Ser393Cys) n.555A>T c.64A>T (p.Ser22Cys) n.572A>T | |
2 | g.38071177T>C | CA346327698 | CYP1B1 | c.1177A>G (p.Ser393Gly) n.555A>G c.64A>G (p.Ser22Gly) n.572A>G | |
2 | g.38071177T>G | CA346327697 | CYP1B1 | c.1177A>C (p.Ser393Arg) n.555A>C c.64A>C (p.Ser22Arg) n.572A>C | |
2 | g.38071178G>A | CA1619844 | CYP1B1 | c.1176C>T (p.Ser392=) n.554C>T c.63C>T (p.Ser21=) n.571C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071178G>C | CA425690744 | CYP1B1 | c.1176C>G (p.Ser392=) n.554C>G c.63C>G (p.Ser21=) n.571C>G | |
2 | g.38071178G= | CA1245626162 | CYP1B1 | c.1176C= (p.Ser392=) n.554C= c.63C= (p.Ser21=) n.571C= | |
2 | g.38071178G>T | CA425690745 | CYP1B1 | c.1176C>A (p.Ser392=) n.554C>A c.63C>A (p.Ser21=) n.571C>A | |
2 | g.38071179G>A | CA346327699 | CYP1B1 | c.1175C>T (p.Ser392Phe) n.553C>T c.62C>T (p.Ser21Phe) n.570C>T | gnomAD v4 |
2 | g.38071179G>C | CA346327700 | CYP1B1 | c.1175C>G (p.Ser392Cys) n.553C>G c.62C>G (p.Ser21Cys) n.570C>G | |
2 | g.38071179G>T | CA346327701 | CYP1B1 | c.1175C>A (p.Ser392Tyr) n.553C>A c.62C>A (p.Ser21Tyr) n.570C>A | |
2 | g.38071180A>C | CA346327702 | CYP1B1 | c.1174T>G (p.Ser392Ala) n.552T>G c.61T>G (p.Ser21Ala) n.569T>G | |
2 | g.38071180A>G | CA346327704 | CYP1B1 | c.1174T>C (p.Ser392Pro) n.552T>C c.61T>C (p.Ser21Pro) n.569T>C | |
2 | g.38071180A>T | CA346327703 | CYP1B1 | c.1174T>A (p.Ser392Thr) n.552T>A c.61T>A (p.Ser21Thr) n.569T>A | |
2 | g.38071181G>A | CA1619845 | CYP1B1 | c.1173C>T (p.Phe391=) n.551C>T c.60C>T (p.Phe20=) n.568C>T | dbSNP ExAC gnomAD v2 |
2 | g.38071181G>C | CA346327705 | CYP1B1 | c.1173C>G (p.Phe391Leu) n.551C>G c.60C>G (p.Phe20Leu) n.568C>G | |
2 | g.38071181G= | CA1245626163 | CYP1B1 | c.1173C= (p.Phe391=) n.551C= c.60C= (p.Phe20=) n.568C= | |
2 | g.38071181G>T | CA346327706 | CYP1B1 | c.1173C>A (p.Phe391Leu) n.551C>A c.60C>A (p.Phe20Leu) n.568C>A | |
2 | g.38071182A>C | CA346327707 | CYP1B1 | c.1172T>G (p.Phe391Cys) n.550T>G c.59T>G (p.Phe20Cys) n.567T>G | |
2 | g.38071182A>G | CA346327708 | CYP1B1 | c.1172T>C (p.Phe391Ser) n.550T>C c.59T>C (p.Phe20Ser) n.567T>C | gnomAD v4 |
2 | g.38071182A>T | CA346327709 | CYP1B1 | c.1172T>A (p.Phe391Tyr) n.550T>A c.59T>A (p.Phe20Tyr) n.567T>A | |
2 | g.38071183A>C | CA346327710 | CYP1B1 | c.1171T>G (p.Phe391Val) n.549T>G c.58T>G (p.Phe20Val) n.566T>G | |
2 | g.38071183A>G | CA346327711 | CYP1B1 | c.1171T>C (p.Phe391Leu) n.549T>C c.58T>C (p.Phe20Leu) n.566T>C | gnomAD v4 |
2 | g.38071183A>T | CA346327712 | CYP1B1 | c.1171T>A (p.Phe391Ile) n.549T>A c.58T>A (p.Phe20Ile) n.566T>A | |
2 | g.38071184G>A | CA425690746 | CYP1B1 | c.1170C>T (p.Arg390=) n.548C>T c.57C>T (p.Arg19=) n.565C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071184G>C | CA425690747 | CYP1B1 | c.1170C>G (p.Arg390=) n.548C>G c.57C>G (p.Arg19=) n.565C>G | |
2 | g.38071184G= | CA1245626164 | CYP1B1 | c.1170C= (p.Arg390=) n.548C= c.57C= (p.Arg19=) n.565C= | |
2 | g.38071184G>T | CA425690748 | CYP1B1 | c.1170C>A (p.Arg390=) n.548C>A c.57C>A (p.Arg19=) n.565C>A | |
2 | g.38071185C>A | CA346327713 | CYP1B1 | c.1169G>T (p.Arg390Leu) n.547G>T c.56G>T (p.Arg19Leu) n.564G>T | |
2 | g.38071185C= | CA1245626165 | CYP1B1 | c.1169G= (p.Arg390=) n.547G= c.56G= (p.Arg19=) n.564G= | |
2 | g.38071185C>G | CA346327714 | CYP1B1 | c.1169G>C (p.Arg390Pro) n.547G>C c.56G>C (p.Arg19Pro) n.564G>C | |
2 | g.38071185C>T | CA1619846 | CYP1B1 | c.1169G>A (p.Arg390His) n.547G>A c.56G>A (p.Arg19His) n.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071186G>A | CA1619847 | CYP1B1 | c.1168C>T (p.Arg390Cys) n.546C>T c.55C>T (p.Arg19Cys) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071186G>C | CA346327715 | CYP1B1 | c.1168C>G (p.Arg390Gly) n.546C>G c.55C>G (p.Arg19Gly) n.563C>G | gnomAD v4 COSMIC |
2 | g.38071186G= | CA1245626166 | CYP1B1 | c.1168C= (p.Arg390=) n.546C= c.55C= (p.Arg19=) n.563C= | |
2 | g.38071186G>T | CA1619848 | CYP1B1 | c.1168C>A (p.Arg390Ser) n.546C>A c.55C>A (p.Arg19Ser) n.563C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071187C>A | CA346327716 | CYP1B1 | c.1167G>T (p.Met389Ile) n.545G>T c.54G>T (p.Met18Ile) n.562G>T | |
2 | g.38071187C= | CA1245626167 | CYP1B1 | c.1167G= (p.Met389=) n.545G= c.54G= (p.Met18=) n.562G= | |
2 | g.38071187C>G | CA346327717 | CYP1B1 | c.1167G>C (p.Met389Ile) n.545G>C c.54G>C (p.Met18Ile) n.562G>C | |
2 | g.38071187C>T | CA45506579 | CYP1B1 | c.1167G>A (p.Met389Ile) n.545G>A c.54G>A (p.Met18Ile) n.562G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071188A= | CA1245626168 | CYP1B1 | c.1166T= (p.Met389=) n.544T= c.53T= (p.Met18=) n.561T= | |
2 | g.38071188A>C | CA346327718 | CYP1B1 | c.1166T>G (p.Met389Arg) n.544T>G c.53T>G (p.Met18Arg) n.561T>G | |
2 | g.38071188A>G | CA346327719 | CYP1B1 | c.1166T>C (p.Met389Thr) n.544T>C c.53T>C (p.Met18Thr) n.561T>C | |
2 | g.38071188A>T | CA346327720 | CYP1B1 | c.1166T>A (p.Met389Lys) n.544T>A c.53T>A (p.Met18Lys) n.561T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071189T>A | CA346327721 | CYP1B1 | c.1165A>T (p.Met389Leu) n.543A>T c.52A>T (p.Met18Leu) n.560A>T | |
2 | g.38071189T>C | CA346327722 | CYP1B1 | c.1165A>G (p.Met389Val) n.543A>G c.52A>G (p.Met18Val) n.560A>G | gnomAD v4 |
2 | g.38071189T>G | CA346327723 | CYP1B1 | c.1165A>C (p.Met389Leu) n.543A>C c.52A>C (p.Met18Leu) n.560A>C | |
2 | g.38071190G>A | CA425690749 | CYP1B1 | c.1164C>T (p.Ala388=) n.542C>T c.51C>T (p.Ala17=) n.559C>T | |
2 | g.38071190G>C | CA425690750 | CYP1B1 | c.1164C>G (p.Ala388=) n.542C>G c.51C>G (p.Ala17=) n.559C>G | |
2 | g.38071190G>T | CA425690751 | CYP1B1 | c.1164C>A (p.Ala388=) n.542C>A c.51C>A (p.Ala17=) n.559C>A | |
2 | g.38071191G>A | CA346327724 | CYP1B1 | c.1163C>T (p.Ala388Val) n.541C>T c.50C>T (p.Ala17Val) n.558C>T | |
2 | g.38071191G>C | CA346327725 | CYP1B1 | c.1163C>G (p.Ala388Gly) n.541C>G c.50C>G (p.Ala17Gly) n.558C>G | |
2 | g.38071191G>T | CA346327726 | CYP1B1 | c.1163C>A (p.Ala388Asp) n.541C>A c.50C>A (p.Ala17Asp) n.558C>A | |
2 | g.38071192C>A | CA346327729 | CYP1B1 | c.1162G>T (p.Ala388Ser) n.540G>T c.49G>T (p.Ala17Ser) n.557G>T | |
2 | g.38071192C>G | CA346327728 | CYP1B1 | c.1162G>C (p.Ala388Pro) n.540G>C c.49G>C (p.Ala17Pro) n.557G>C | |
2 | g.38071192C>T | CA346327727 | CYP1B1 | c.1162G>A (p.Ala388Thr) n.540G>A c.49G>A (p.Ala17Thr) n.557G>A | |
2 | g.38071193T>A | CA346327730 | CYP1B1 | c.1161A>T (p.Glu387Asp) n.539A>T c.48A>T (p.Glu16Asp) n.556A>T | |
2 | g.38071193T>C | CA425690752 | CYP1B1 | c.1161A>G (p.Glu387=) n.539A>G c.48A>G (p.Glu16=) n.556A>G | |
2 | g.38071193T>G | CA346327731 | CYP1B1 | c.1161A>C (p.Glu387Asp) n.539A>C c.48A>C (p.Glu16Asp) n.556A>C | |
2 | g.38071194T>A | CA346327732 | CYP1B1 | c.1160A>T (p.Glu387Val) n.538A>T c.47A>T (p.Glu16Val) n.555A>T | |
2 | g.38071194T>C | CA346327733 | CYP1B1 | c.1160A>G (p.Glu387Gly) n.538A>G c.47A>G (p.Glu16Gly) n.555A>G | gnomAD v4 |
2 | g.38071194T>G | CA346327734 | CYP1B1 | c.1160A>C (p.Glu387Ala) n.538A>C c.47A>C (p.Glu16Ala) n.555A>C | |
2 | g.38071195C>A | CA346327735 | CYP1B1 | c.1159G>T (p.Glu387Ter) n.537G>T c.46G>T (p.Glu16Ter) n.554G>T | |
2 | g.38071195C= | CA1245626169 | CYP1B1 | c.1159G= (p.Glu387=) n.537G= c.46G= (p.Glu16=) n.554G= | |
2 | g.38071195C>G | CA45506580 | CYP1B1 | c.1159G>C (p.Glu387Gln) n.537G>C c.46G>C (p.Glu16Gln) n.554G>C | dbSNP |
2 | g.38071195C>T | CA254241 | CYP1B1 | c.1159G>A (p.Glu387Lys) n.537G>A c.46G>A (p.Glu16Lys) n.554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071196A>C | CA346327736 | CYP1B1 | c.1158T>G (p.Tyr386Ter) n.536T>G c.45T>G (p.Tyr15Ter) n.553T>G | |
2 | g.38071196A>G | CA425690753 | CYP1B1 | c.1158T>C (p.Tyr386=) n.536T>C c.45T>C (p.Tyr15=) n.553T>C | |
2 | g.38071196A>T | CA346327737 | CYP1B1 | c.1158T>A (p.Tyr386Ter) n.536T>A c.45T>A (p.Tyr15Ter) n.553T>A | |
2 | g.38071197T>A | CA346327738 | CYP1B1 | c.1157A>T (p.Tyr386Phe) n.535A>T c.44A>T (p.Tyr15Phe) n.552A>T | |
2 | g.38071197T>C | CA346327739 | CYP1B1 | c.1157A>G (p.Tyr386Cys) n.535A>G c.44A>G (p.Tyr15Cys) n.552A>G | gnomAD v4 |
2 | g.38071197T>G | CA346327740 | CYP1B1 | c.1157A>C (p.Tyr386Ser) n.535A>C c.44A>C (p.Tyr15Ser) n.552A>C | |
2 | g.38071198A>C | CA346327742 | CYP1B1 | c.1156T>G (p.Tyr386Asp) n.534T>G c.43T>G (p.Tyr15Asp) n.551T>G | |
2 | g.38071198A>G | CA346327743 | CYP1B1 | c.1156T>C (p.Tyr386His) n.534T>C c.43T>C (p.Tyr15His) n.551T>C | |
2 | g.38071198A>T | CA346327741 | CYP1B1 | c.1156T>A (p.Tyr386Asn) n.534T>A c.43T>A (p.Tyr15Asn) n.551T>A | |
2 | g.38071199A>C | CA425690756 | CYP1B1 | c.1155T>G (p.Leu385=) n.533T>G c.42T>G (p.Leu14=) n.550T>G | |
2 | g.38071199A>G | CA425690754 | CYP1B1 | c.1155T>C (p.Leu385=) n.533T>C c.42T>C (p.Leu14=) n.550T>C | gnomAD v4 |
2 | g.38071199A>T | CA425690755 | CYP1B1 | c.1155T>A (p.Leu385=) n.533T>A c.42T>A (p.Leu14=) n.550T>A | |
2 | g.38071200A>C | CA346327746 | CYP1B1 | c.1154T>G (p.Leu385Arg) n.532T>G c.41T>G (p.Leu14Arg) n.549T>G | |
2 | g.38071200A>G | CA346327744 | CYP1B1 | c.1154T>C (p.Leu385Pro) n.532T>C c.41T>C (p.Leu14Pro) n.549T>C | |
2 | g.38071200A>T | CA346327745 | CYP1B1 | c.1154T>A (p.Leu385His) n.532T>A c.41T>A (p.Leu14His) n.549T>A | |
2 | g.38071201G>A | CA45506612 | CYP1B1 | c.1153C>T (p.Leu385Phe) n.531C>T c.40C>T (p.Leu14Phe) n.548C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071201G>C | CA346327747 | CYP1B1 | c.1153C>G (p.Leu385Val) n.531C>G c.40C>G (p.Leu14Val) n.548C>G | |
2 | g.38071201G= | CA1245626170 | CYP1B1 | c.1153C= (p.Leu385=) n.531C= c.40C= (p.Leu14=) n.548C= | |
2 | g.38071201G>T | CA346327748 | CYP1B1 | c.1153C>A (p.Leu385Ile) n.531C>A c.40C>A (p.Leu14Ile) n.548C>A | |
2 | g.38071202G>A | CA425690757 | CYP1B1 | c.1152C>T (p.Phe384=) n.530C>T c.39C>T (p.Phe13=) n.547C>T | |
2 | g.38071202G>C | CA346327749 | CYP1B1 | c.1152C>G (p.Phe384Leu) n.530C>G c.39C>G (p.Phe13Leu) n.547C>G | |
2 | g.38071202G>T | CA346327750 | CYP1B1 | c.1152C>A (p.Phe384Leu) n.530C>A c.39C>A (p.Phe13Leu) n.547C>A | |
2 | g.38071203A>C | CA346327751 | CYP1B1 | c.1151T>G (p.Phe384Cys) n.529T>G c.38T>G (p.Phe13Cys) n.546T>G | |
2 | g.38071203A>G | CA346327752 | CYP1B1 | c.1151T>C (p.Phe384Ser) n.529T>C c.38T>C (p.Phe13Ser) n.546T>C | |
2 | g.38071203A>T | CA346327753 | CYP1B1 | c.1151T>A (p.Phe384Tyr) n.529T>A c.38T>A (p.Phe13Tyr) n.546T>A | gnomAD v4 |
2 | g.38071204A= | CA1245626171 | CYP1B1 | c.1150T= (p.Phe384=) n.528T= c.37T= (p.Phe13=) n.545T= | |
2 | g.38071204A>C | CA1619849 | CYP1B1 | c.1150T>G (p.Phe384Val) n.528T>G c.37T>G (p.Phe13Val) n.545T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071204A>G | CA346327754 | CYP1B1 | c.1150T>C (p.Phe384Leu) n.528T>C c.37T>C (p.Phe13Leu) n.545T>C | |
2 | g.38071204A>T | CA346327755 | CYP1B1 | c.1150T>A (p.Phe384Ile) n.528T>A c.37T>A (p.Phe13Ile) n.545T>A | |
2 | g.38071205G>A | CA425690758 | CYP1B1 | c.1149C>T (p.Ala383=) n.527C>T c.36C>T (p.Ala12=) n.544C>T | ClinVar dbSNP |
2 | g.38071205G>C | CA425690759 | CYP1B1 | c.1149C>G (p.Ala383=) n.527C>G c.36C>G (p.Ala12=) n.544C>G | gnomAD v4 |
2 | g.38071205G= | CA1245626172 | CYP1B1 | c.1149C= (p.Ala383=) n.527C= c.36C= (p.Ala12=) n.544C= | |
2 | g.38071205G>T | CA425690760 | CYP1B1 | c.1149C>A (p.Ala383=) n.527C>A c.36C>A (p.Ala12=) n.544C>A | ClinVar |
2 | g.38071206G>A | CA346327758 | CYP1B1 | c.1148C>T (p.Ala383Val) n.526C>T c.35C>T (p.Ala12Val) n.543C>T | gnomAD v4 |
2 | g.38071206G>C | CA346327757 | CYP1B1 | c.1148C>G (p.Ala383Gly) n.526C>G c.35C>G (p.Ala12Gly) n.543C>G | |
2 | g.38071206G= | CA1245626173 | CYP1B1 | c.1148C= (p.Ala383=) n.526C= c.35C= (p.Ala12=) n.543C= | |
2 | g.38071206G>T | CA346327756 | CYP1B1 | c.1148C>A (p.Ala383Asp) n.526C>A c.35C>A (p.Ala12Asp) n.543C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071207C>A | CA346327759 | CYP1B1 | c.1147G>T (p.Ala383Ser) n.525G>T c.34G>T (p.Ala12Ser) n.542G>T | |
2 | g.38071207C>G | CA346327760 | CYP1B1 | c.1147G>C (p.Ala383Pro) n.525G>C c.34G>C (p.Ala12Pro) n.542G>C | |
2 | g.38071207C>T | CA346327761 | CYP1B1 | c.1147G>A (p.Ala383Thr) n.525G>A c.34G>A (p.Ala12Thr) n.542G>A | ClinVar gnomAD v4 |
2 | g.38071208C>A | CA425690761 | CYP1B1 | c.1146G>T (p.Leu382=) n.524G>T c.33G>T (p.Leu11=) n.541G>T | |
2 | g.38071208C>G | CA425690762 | CYP1B1 | c.1146G>C (p.Leu382=) n.524G>C c.33G>C (p.Leu11=) n.541G>C | gnomAD v4 |
2 | g.38071208C>T | CA425690763 | CYP1B1 | c.1146G>A (p.Leu382=) n.524G>A c.33G>A (p.Leu11=) n.541G>A | |
2 | g.38071209A>C | CA346327762 | CYP1B1 | c.1145T>G (p.Leu382Arg) n.523T>G c.32T>G (p.Leu11Arg) n.540T>G | |
2 | g.38071209A>G | CA346327763 | CYP1B1 | c.1145T>C (p.Leu382Pro) n.523T>C c.32T>C (p.Leu11Pro) n.540T>C | |
2 | g.38071209A>T | CA346327764 | CYP1B1 | c.1145T>A (p.Leu382Gln) n.523T>A c.32T>A (p.Leu11Gln) n.540T>A | |
2 | g.38071210G>A | CA425690764 | CYP1B1 | c.1144C>T (p.Leu382=) n.522C>T c.31C>T (p.Leu11=) n.539C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071210G>C | CA346327765 | CYP1B1 | c.1144C>G (p.Leu382Val) n.522C>G c.31C>G (p.Leu11Val) n.539C>G | |
2 | g.38071210G= | CA1245626174 | CYP1B1 | c.1144C= (p.Leu382=) n.522C= c.31C= (p.Leu11=) n.539C= | |
2 | g.38071210G>T | CA346327766 | CYP1B1 | c.1144C>A (p.Leu382Met) n.522C>A c.31C>A (p.Leu11Met) n.539C>A | |
2 | g.38071211G>A | CA425690765 | CYP1B1 | c.1143C>T (p.Val381=) n.521C>T c.30C>T (p.Val10=) n.538C>T | ClinVar gnomAD v4 |
2 | g.38071211G>C | CA425690766 | CYP1B1 | c.1143C>G (p.Val381=) n.521C>G c.30C>G (p.Val10=) n.538C>G | |
2 | g.38071211G>T | CA425690767 | CYP1B1 | c.1143C>A (p.Val381=) n.521C>A c.30C>A (p.Val10=) n.538C>A | |
2 | g.38071212A>C | CA346327767 | CYP1B1 | c.1142T>G (p.Val381Gly) n.520T>G c.29T>G (p.Val10Gly) n.537T>G | |
2 | g.38071212A>G | CA346327768 | CYP1B1 | c.1142T>C (p.Val381Ala) n.520T>C c.29T>C (p.Val10Ala) n.537T>C | |
2 | g.38071212A>T | CA346327769 | CYP1B1 | c.1142T>A (p.Val381Asp) n.520T>A c.29T>A (p.Val10Asp) n.537T>A | |
2 | g.38071213C>A | CA346327770 | CYP1B1 | c.1141G>T (p.Val381Phe) n.519G>T c.28G>T (p.Val10Phe) n.536G>T | |
2 | g.38071213C= | CA1245626175 | CYP1B1 | c.1141G= (p.Val381=) n.519G= c.28G= (p.Val10=) n.536G= | |
2 | g.38071213C>G | CA346327771 | CYP1B1 | c.1141G>C (p.Val381Leu) n.519G>C c.28G>C (p.Val10Leu) n.536G>C | |
2 | g.38071213C>T | CA346327772 | CYP1B1 | c.1141G>A (p.Val381Ile) n.519G>A c.28G>A (p.Val10Ile) n.536G>A | |
2 | g.38071214A= | CA1245626176 | CYP1B1 | c.1140T= (p.Tyr380=) n.518T= c.27T= (p.Tyr9=) n.535T= | |
2 | g.38071214A>C | CA346327774 | CYP1B1 | c.1140T>G (p.Tyr380Ter) n.518T>G c.27T>G (p.Tyr9Ter) n.535T>G | |
2 | g.38071214A>G | CA1619850 | CYP1B1 | c.1140T>C (p.Tyr380=) n.518T>C c.27T>C (p.Tyr9=) n.535T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071214A>T | CA346327773 | CYP1B1 | c.1140T>A (p.Tyr380Ter) n.518T>A c.27T>A (p.Tyr9Ter) n.535T>A | |
2 | g.38071214dup | CA45506657 | CYP1B1 | c.1140dup (p.Val381CysfsTer7) n.518dup c.27dup (p.Val10CysfsTer7) n.535dup | ClinVar dbSNP gnomAD v4 |
2 | g.38071215T>A | CA346327775 | CYP1B1 | c.1139A>T (p.Tyr380Phe) n.517A>T c.26A>T (p.Tyr9Phe) n.534A>T | |
2 | g.38071215T>C | CA346327776 | CYP1B1 | c.1139A>G (p.Tyr380Cys) n.517A>G c.26A>G (p.Tyr9Cys) n.534A>G | ClinVar gnomAD v4 |
2 | g.38071215T>G | CA346327777 | CYP1B1 | c.1139A>C (p.Tyr380Ser) n.517A>C c.26A>C (p.Tyr9Ser) n.534A>C | |
2 | g.38071216A>C | CA346327778 | CYP1B1 | c.1138T>G (p.Tyr380Asp) n.516T>G c.25T>G (p.Tyr9Asp) n.533T>G | |
2 | g.38071216A>G | CA346327779 | CYP1B1 | c.1138T>C (p.Tyr380His) n.516T>C c.25T>C (p.Tyr9His) n.533T>C | |
2 | g.38071216A>T | CA346327780 | CYP1B1 | c.1138T>A (p.Tyr380Asn) n.516T>A c.25T>A (p.Tyr9Asn) n.533T>A | |
2 | g.38071217G>A | CA425690769 | CYP1B1 | c.1137C>T (p.Pro379=) n.515C>T c.24C>T (p.Pro8=) n.532C>T | gnomAD v4 |
2 | g.38071217G>C | CA1619851 | CYP1B1 | c.1137C>G (p.Pro379=) n.515C>G c.24C>G (p.Pro8=) n.532C>G | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.38071217G= | CA1245626177 | CYP1B1 | c.1137C= (p.Pro379=) n.515C= c.24C= (p.Pro8=) n.532C= | |
2 | g.38071217G>T | CA425690768 | CYP1B1 | c.1137C>A (p.Pro379=) n.515C>A c.24C>A (p.Pro8=) n.532C>A | |
2 | g.38071218G>A | CA45506686 | CYP1B1 | c.1136C>T (p.Pro379Leu) n.514C>T c.23C>T (p.Pro8Leu) n.531C>T | dbSNP gnomAD v4 |
2 | g.38071218G>C | CA346327781 | CYP1B1 | c.1136C>G (p.Pro379Arg) n.514C>G c.23C>G (p.Pro8Arg) n.531C>G | |
2 | g.38071218G= | CA1245626178 | CYP1B1 | c.1136C= (p.Pro379=) n.514C= c.23C= (p.Pro8=) n.531C= | |
2 | g.38071218G>T | CA346327782 | CYP1B1 | c.1136C>A (p.Pro379His) n.514C>A c.23C>A (p.Pro8His) n.531C>A | gnomAD v4 |
2 | g.38071219G>A | CA346327783 | CYP1B1 | c.1135C>T (p.Pro379Ser) n.513C>T c.22C>T (p.Pro8Ser) n.530C>T | |
2 | g.38071219G>C | CA346327784 | CYP1B1 | c.1135C>G (p.Pro379Ala) n.513C>G c.22C>G (p.Pro8Ala) n.530C>G | |
2 | g.38071219G>T | CA346327785 | CYP1B1 | c.1135C>A (p.Pro379Thr) n.513C>A c.22C>A (p.Pro8Thr) n.530C>A |