Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38076384_38076610del | CA2749546859 | CYP1B1 | c.-70-5292_-70-5066del (n.-70-5292_-70-5066del) c.998_1174+50del | |
2 | g.38076399_38076407del | CA2749546885 | CYP1B1 | c.-70-5096_-70-5088del (n.-70-5096_-70-5088del) c.1013_1021del (p.Arg338_Pro340del) | |
2 | g.38076402_38076422del | CA2749546886 | CYP1B1 | c.-70-5108_-70-5088del (n.-70-5108_-70-5088del) c.1016_1036del (p.Cys339_Arg345del) | |
2 | g.38076400_38076407del | CA2749546887 | CYP1B1 | c.-70-5097_-70-5090del (n.-70-5097_-70-5090del) c.1014_1021del (p.Cys339GlufsTer?) | |
2 | g.38076403T>A | CA2749546894 | CYP1B1 | c.-70-5093A>T (n.-70-5093A>T) c.1017T>A (p.Cys339Ter) | |
2 | g.38076403T>C | CA1245628899 | CYP1B1 | c.-70-5093A>G (n.-70-5093A>G) c.1017T>C (p.Cys339=) | dbSNP gnomAD v4 |
2 | g.38076403T>G | CA2749546895 | CYP1B1 | c.-70-5093A>C (n.-70-5093A>C) c.1017T>G (p.Cys339Trp) | |
2 | g.38076403T= | CA1245628898 | CYP1B1 | c.-70-5093A= (n.-70-5093A=) c.1017T= (p.Cys339=) | |
2 | g.38076404C>A | CA531942533 | CYP1B1 | c.-70-5094G>T (n.-70-5094G>T) c.1018C>A (p.Pro340Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076404C= | CA1245628900 | CYP1B1 | c.-70-5094G= (n.-70-5094G=) c.1018C= (p.Pro340=) | |
2 | g.38076404C>G | CA2658668430 | CYP1B1 | c.-70-5094G>C (n.-70-5094G>C) c.1018C>G (p.Pro340Ala) | gnomAD v4 |
2 | g.38076404C>T | CA1245628901 | CYP1B1 | c.-70-5094G>A (n.-70-5094G>A) c.1018C>T (p.Pro340Ser) | dbSNP gnomAD v4 |
2 | g.38076407del | CA2658668429 | CYP1B1 | c.-70-5094del (n.-70-5094del) c.1021del (p.Gln341ArgfsTer?) | gnomAD v4 |
2 | g.38076405_38076407del | CA2749546896 | CYP1B1 | c.-70-5096_-70-5094del (n.-70-5096_-70-5094del) c.1019_1021del (p.Pro340del) | |
2 | g.38076405C>A | CA2658668431 | CYP1B1 | c.-70-5095G>T (n.-70-5095G>T) c.1019C>A (p.Pro340His) | gnomAD v4 |
2 | g.38076405C>T | CA2658668432 | CYP1B1 | c.-70-5095G>A (n.-70-5095G>A) c.1019C>T (p.Pro340Leu) | gnomAD v4 |
2 | g.38076406C>A | CA2658668433 | CYP1B1 | c.-70-5096G>T (n.-70-5096G>T) c.1020C>A (p.Pro340=) | gnomAD v4 |
2 | g.38076406C= | CA1245628902 | CYP1B1 | c.-70-5096G= (n.-70-5096G=) c.1020C= (p.Pro340=) | |
2 | g.38076406C>T | CA531942539 | CYP1B1 | c.-70-5096G>A (n.-70-5096G>A) c.1020C>T (p.Pro340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076406_38076407insAGT | CA2749546897 | CYP1B1 | c.-70-5097_-70-5096insACT (n.-70-5097_-70-5096insACT) c.1020_1021insAGT (p.Pro340_Gln341insSer) | |
2 | g.38076407C>A | CA2658668434 | CYP1B1 | c.-70-5097G>T (n.-70-5097G>T) c.1021C>A (p.Gln341Lys) | gnomAD v4 |
2 | g.38076407C>T | CA2658668435 | CYP1B1 | c.-70-5097G>A (n.-70-5097G>A) c.1021C>T (p.Gln341Ter) | gnomAD v4 |
2 | g.38076409G>C | CA2749546898 | CYP1B1 | c.-70-5099C>G (n.-70-5099C>G) c.1023G>C (p.Gln341His) | |
2 | g.38076409G>T | CA2658668436 | CYP1B1 | c.-70-5099C>A (n.-70-5099C>A) c.1023G>T (p.Gln341His) | gnomAD v4 |
2 | g.38076409_38076413del | CA2749546899 | CYP1B1 | c.-70-5103_-70-5099del (n.-70-5103_-70-5099del) c.1023_1027del (p.Asn342ArgfsTer?) | |
2 | g.38076410A= | CA1245628903 | CYP1B1 | c.-70-5100T= (n.-70-5100T=) c.1024A= (p.Asn342=) | |
2 | g.38076410A>C | CA768427088 | CYP1B1 | c.-70-5100T>G (n.-70-5100T>G) c.1024A>C (p.Asn342His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076410A>T | CA2749546900 | CYP1B1 | c.-70-5100T>A (n.-70-5100T>A) c.1024A>T (p.Asn342Tyr) | |
2 | g.38076411A>C | CA2658668438 | CYP1B1 | c.-70-5101T>G (n.-70-5101T>G) c.1025A>C (p.Asn342Thr) | gnomAD v4 |
2 | g.38076411A>G | CA2658668437 | CYP1B1 | c.-70-5101T>C (n.-70-5101T>C) c.1025A>G (p.Asn342Ser) | gnomAD v4 |
2 | g.38076412C>A | CA2658668439 | CYP1B1 | c.-70-5102G>T (n.-70-5102G>T) c.1026C>A (p.Asn342Lys) | gnomAD v4 |
2 | g.38076412C= | CA1245628904 | CYP1B1 | c.-70-5102G= (n.-70-5102G=) c.1026C= (p.Asn342=) | |
2 | g.38076412C>G | CA768427095 | CYP1B1 | c.-70-5102G>C (n.-70-5102G>C) c.1026C>G (p.Asn342Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076413C>A | CA2658668441 | CYP1B1 | c.-70-5103G>T (n.-70-5103G>T) c.1027C>A (p.His343Asn) | gnomAD v4 |
2 | g.38076413C>T | CA2658668440 | CYP1B1 | c.-70-5103G>A (n.-70-5103G>A) c.1027C>T (p.His343Tyr) | gnomAD v4 |
2 | g.38076414A>C | CA2658668442 | CYP1B1 | c.-70-5104T>G (n.-70-5104T>G) c.1028A>C (p.His343Pro) | gnomAD v4 |
2 | g.38076414_38076415insGAG | CA2749546901 | CYP1B1 | c.-70-5105_-70-5104insCTC (n.-70-5105_-70-5104insCTC) c.1028_1029insGAG (p.His343delinsGlnSer) | |
2 | g.38076415C>A | CA2658668443 | CYP1B1 | c.-70-5105G>T (n.-70-5105G>T) c.1029C>A (p.His343Gln) | gnomAD v4 |
2 | g.38076415C>T | CA2658668444 | CYP1B1 | c.-70-5105G>A (n.-70-5105G>A) c.1029C>T (p.His343=) | gnomAD v4 |
2 | g.38076415_38076416insAGA | CA2749546903 | CYP1B1 | c.-70-5106_-70-5105insTCT (n.-70-5106_-70-5105insTCT) c.1029_1030insAGA (p.His343_Ala344insArg) | |
2 | g.38076416G>A | CA2658668445 | CYP1B1 | c.-70-5106C>T (n.-70-5106C>T) c.1030G>A (p.Ala344Thr) | gnomAD v4 |
2 | g.38076416G>C | CA2658668446 | CYP1B1 | c.-70-5106C>G (n.-70-5106C>G) c.1030G>C (p.Ala344Pro) | gnomAD v4 |
2 | g.38076416G= | CA1245628905 | CYP1B1 | c.-70-5106C= (n.-70-5106C=) c.1030G= (p.Ala344=) | |
2 | g.38076416G>T | CA768427104 | CYP1B1 | c.-70-5106C>A (n.-70-5106C>A) c.1030G>T (p.Ala344Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076416_38076422del | CA2749546902 | CYP1B1 | c.-70-5112_-70-5106del (n.-70-5112_-70-5106del) c.1030_1036del (p.Ala344ThrfsTer?) | |
2 | g.38076416_38076417insA | CA2749546904 | CYP1B1 | c.-70-5107_-70-5106insT (n.-70-5107_-70-5106insT) c.1030_1031insA (p.Ala344AspfsTer?) | |
2 | g.38076417C>A | CA2658668447 | CYP1B1 | c.-70-5107G>T (n.-70-5107G>T) c.1031C>A (p.Ala344Asp) | gnomAD v4 |
2 | g.38076417C= | CA1245628906 | CYP1B1 | c.-70-5107G= (n.-70-5107G=) c.1031C= (p.Ala344=) | |
2 | g.38076417C>G | CA1029495334 | CYP1B1 | c.-70-5107G>C (n.-70-5107G>C) c.1031C>G (p.Ala344Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076417C>T | CA2658668448 | CYP1B1 | c.-70-5107G>A (n.-70-5107G>A) c.1031C>T (p.Ala344Val) | gnomAD v4 |