Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |