Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42128775_42128804delinsGCTCCGCACCTCGCGCAGAAAGCCCGACTC | CA2406579451 | CYP2D6 | c.493_513+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC c.646_666+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC c.313_333+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC c.580_600+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC n.1370_1390+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC c.502_522+9delinsGAGTCGGGCTTTCTGCGCGAGGTGCGGAGC | |
22 | g.42128780_42128808del | CA920373716 | CYP2D6 | c.493_513+8del c.646_666+8del c.313_333+8del c.580_600+8del n.1370_1390+8del c.502_522+8del | dbSNP gnomAD v4 |
22 | g.42128787G>A | CA10264979 | CYP2D6 | c.510C>T (p.Arg170=) c.663C>T (p.Arg221=) c.330C>T (p.Arg110=) c.597C>T (p.Arg199=) n.1387C>T c.519C>T (p.Arg173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128787G>C | CA514696604 | CYP2D6 | c.510C>G (p.Arg170=) c.663C>G (p.Arg221=) c.330C>G (p.Arg110=) c.597C>G (p.Arg199=) n.1387C>G c.519C>G (p.Arg173=) | dbSNP |
22 | g.42128787G= | CA2406579466 | CYP2D6 | c.510C= (p.Arg170=) c.663C= (p.Arg221=) c.330C= (p.Arg110=) c.597C= (p.Arg199=) n.1387C= c.519C= (p.Arg173=) | |
22 | g.42128787G>T | CA514696606 | CYP2D6 | c.510C>A (p.Arg170=) c.663C>A (p.Arg221=) c.330C>A (p.Arg110=) c.597C>A (p.Arg199=) n.1387C>A c.519C>A (p.Arg173=) | gnomAD v4 |
22 | g.42128788C>A | CA411773726 | CYP2D6 | c.509G>T (p.Arg170Leu) c.662G>T (p.Arg221Leu) c.329G>T (p.Arg110Leu) c.596G>T (p.Arg199Leu) n.1386G>T c.518G>T (p.Arg173Leu) | gnomAD v4 |
22 | g.42128788C= | CA2406579467 | CYP2D6 | c.509G= (p.Arg170=) c.662G= (p.Arg221=) c.329G= (p.Arg110=) c.596G= (p.Arg199=) n.1386G= c.518G= (p.Arg173=) | |
22 | g.42128788C>G | CA411773728 | CYP2D6 | c.509G>C (p.Arg170Pro) c.662G>C (p.Arg221Pro) c.329G>C (p.Arg110Pro) c.596G>C (p.Arg199Pro) n.1386G>C c.518G>C (p.Arg173Pro) | |
22 | g.42128788C>T | CA411773730 | CYP2D6 | c.509G>A (p.Arg170His) c.662G>A (p.Arg221His) c.329G>A (p.Arg110His) c.596G>A (p.Arg199His) n.1386G>A c.518G>A (p.Arg173His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128789G>A | CA10264980 | CYP2D6 | c.508C>T (p.Arg170Cys) c.661C>T (p.Arg221Cys) c.328C>T (p.Arg110Cys) c.595C>T (p.Arg199Cys) n.1385C>T c.517C>T (p.Arg173Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128789G>C | CA411773734 | CYP2D6 | c.508C>G (p.Arg170Gly) c.661C>G (p.Arg221Gly) c.328C>G (p.Arg110Gly) c.595C>G (p.Arg199Gly) n.1385C>G c.517C>G (p.Arg173Gly) | |
22 | g.42128789G= | CA2406579468 | CYP2D6 | c.508C= (p.Arg170=) c.661C= (p.Arg221=) c.328C= (p.Arg110=) c.595C= (p.Arg199=) n.1385C= c.517C= (p.Arg173=) | |
22 | g.42128789G>T | CA411773736 | CYP2D6 | c.508C>A (p.Arg170Ser) c.661C>A (p.Arg221Ser) c.328C>A (p.Arg110Ser) c.595C>A (p.Arg199Ser) n.1385C>A c.517C>A (p.Arg173Ser) | |
22 | g.42128790C>A | CA514696620 | CYP2D6 | c.507G>T (p.Leu169=) c.660G>T (p.Leu220=) c.327G>T (p.Leu109=) c.594G>T (p.Leu198=) n.1384G>T c.516G>T (p.Leu172=) | |
22 | g.42128790C>G | CA514696621 | CYP2D6 | c.507G>C (p.Leu169=) c.660G>C (p.Leu220=) c.327G>C (p.Leu109=) c.594G>C (p.Leu198=) n.1384G>C c.516G>C (p.Leu172=) | gnomAD v4 |
22 | g.42128790C>T | CA514696623 | CYP2D6 | c.507G>A (p.Leu169=) c.660G>A (p.Leu220=) c.327G>A (p.Leu109=) c.594G>A (p.Leu198=) n.1384G>A c.516G>A (p.Leu172=) | |
22 | g.42128791A>C | CA411773742 | CYP2D6 | c.506T>G (p.Leu169Arg) c.659T>G (p.Leu220Arg) c.326T>G (p.Leu109Arg) c.593T>G (p.Leu198Arg) n.1383T>G c.515T>G (p.Leu172Arg) | |
22 | g.42128791A>G | CA411773739 | CYP2D6 | c.506T>C (p.Leu169Pro) c.659T>C (p.Leu220Pro) c.326T>C (p.Leu109Pro) c.593T>C (p.Leu198Pro) n.1383T>C c.515T>C (p.Leu172Pro) | |
22 | g.42128791A>T | CA411773740 | CYP2D6 | c.506T>A (p.Leu169Gln) c.659T>A (p.Leu220Gln) c.326T>A (p.Leu109Gln) c.593T>A (p.Leu198Gln) n.1383T>A c.515T>A (p.Leu172Gln) | |
22 | g.42128792_42128794del | CA2657033526 | CYP2D6 | c.504_506del (p.Phe168del) c.657_659del (p.Phe219del) c.324_326del (p.Phe108del) c.591_593del (p.Phe197del) n.1381_1383del c.513_515del (p.Phe171del) | gnomAD v4 |
22 | g.42128792G>A | CA514696632 | CYP2D6 | c.505C>T (p.Leu169=) c.658C>T (p.Leu220=) c.325C>T (p.Leu109=) c.592C>T (p.Leu198=) n.1382C>T c.514C>T (p.Leu172=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128792G>C | CA411773745 | CYP2D6 | c.505C>G (p.Leu169Val) c.658C>G (p.Leu220Val) c.325C>G (p.Leu109Val) c.592C>G (p.Leu198Val) n.1382C>G c.514C>G (p.Leu172Val) | |
22 | g.42128792G= | CA2406579469 | CYP2D6 | c.505C= (p.Leu169=) c.658C= (p.Leu220=) c.325C= (p.Leu109=) c.592C= (p.Leu198=) n.1382C= c.514C= (p.Leu172=) | |
22 | g.42128792G>T | CA411773746 | CYP2D6 | c.505C>A (p.Leu169Met) c.658C>A (p.Leu220Met) c.325C>A (p.Leu109Met) c.592C>A (p.Leu198Met) n.1382C>A c.514C>A (p.Leu172Met) | |
22 | g.42128793A= | CA2406579470 | CYP2D6 | c.504T= (p.Phe168=) c.657T= (p.Phe219=) c.324T= (p.Phe108=) c.591T= (p.Phe197=) n.1381T= c.513T= (p.Phe171=) | |
22 | g.42128793A>C | CA411773749 | CYP2D6 | c.504T>G (p.Phe168Leu) c.657T>G (p.Phe219Leu) c.324T>G (p.Phe108Leu) c.591T>G (p.Phe197Leu) n.1381T>G c.513T>G (p.Phe171Leu) | |
22 | g.42128793A>G | CA10264981 | CYP2D6 | c.504T>C (p.Phe168=) c.657T>C (p.Phe219=) c.324T>C (p.Phe108=) c.591T>C (p.Phe197=) n.1381T>C c.513T>C (p.Phe171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128793A>T | CA411773751 | CYP2D6 | c.504T>A (p.Phe168Leu) c.657T>A (p.Phe219Leu) c.324T>A (p.Phe108Leu) c.591T>A (p.Phe197Leu) n.1381T>A c.513T>A (p.Phe171Leu) | gnomAD v3 gnomAD v4 |
22 | g.42128794A= | CA2406579471 | CYP2D6 | c.503T= (p.Phe168=) c.656T= (p.Phe219=) c.323T= (p.Phe108=) c.590T= (p.Phe197=) n.1380T= c.512T= (p.Phe171=) | |
22 | g.42128794A>C | CA411773756 | CYP2D6 | c.503T>G (p.Phe168Cys) c.656T>G (p.Phe219Cys) c.323T>G (p.Phe108Cys) c.590T>G (p.Phe197Cys) n.1380T>G c.512T>G (p.Phe171Cys) | |
22 | g.42128794A>G | CA10264982 | CYP2D6 | c.503T>C (p.Phe168Ser) c.656T>C (p.Phe219Ser) c.323T>C (p.Phe108Ser) c.590T>C (p.Phe197Ser) n.1380T>C c.512T>C (p.Phe171Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128794A>T | CA411773754 | CYP2D6 | c.503T>A (p.Phe168Tyr) c.656T>A (p.Phe219Tyr) c.323T>A (p.Phe108Tyr) c.590T>A (p.Phe197Tyr) n.1380T>A c.512T>A (p.Phe171Tyr) | |
22 | g.42128795A>C | CA411773758 | CYP2D6 | c.502T>G (p.Phe168Val) c.655T>G (p.Phe219Val) c.322T>G (p.Phe108Val) c.589T>G (p.Phe197Val) n.1379T>G c.511T>G (p.Phe171Val) | |
22 | g.42128795A>G | CA411773760 | CYP2D6 | c.502T>C (p.Phe168Leu) c.655T>C (p.Phe219Leu) c.322T>C (p.Phe108Leu) c.589T>C (p.Phe197Leu) n.1379T>C c.511T>C (p.Phe171Leu) | gnomAD v4 |
22 | g.42128795A>T | CA411773762 | CYP2D6 | c.502T>A (p.Phe168Ile) c.655T>A (p.Phe219Ile) c.322T>A (p.Phe108Ile) c.589T>A (p.Phe197Ile) n.1379T>A c.511T>A (p.Phe171Ile) | |
22 | g.42128796del | CA2695230937 | CYP2D6 | c.501del (p.Leu169CysfsTer5) c.654del (p.Leu220CysfsTer5) c.321del (p.Leu109CysfsTer5) c.588del (p.Leu198CysfsTer5) n.1378del c.510del (p.Leu172CysfsTer5) | |
22 | g.42128796G>A | CA514696650 | CYP2D6 | c.501C>T (p.Gly167=) c.654C>T (p.Gly218=) c.321C>T (p.Gly107=) c.588C>T (p.Gly196=) n.1378C>T c.510C>T (p.Gly170=) | gnomAD v4 |
22 | g.42128796G>C | CA514696652 | CYP2D6 | c.501C>G (p.Gly167=) c.654C>G (p.Gly218=) c.321C>G (p.Gly107=) c.588C>G (p.Gly196=) n.1378C>G c.510C>G (p.Gly170=) | |
22 | g.42128796G= | CA2406579472 | CYP2D6 | c.501C= (p.Gly167=) c.654C= (p.Gly218=) c.321C= (p.Gly107=) c.588C= (p.Gly196=) n.1378C= c.510C= (p.Gly170=) | |
22 | g.42128796G>T | CA514696654 | CYP2D6 | c.501C>A (p.Gly167=) c.654C>A (p.Gly218=) c.321C>A (p.Gly107=) c.588C>A (p.Gly196=) n.1378C>A c.510C>A (p.Gly170=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128797C>A | CA411773765 | CYP2D6 | c.500G>T (p.Gly167Val) c.653G>T (p.Gly218Val) c.320G>T (p.Gly107Val) c.587G>T (p.Gly196Val) n.1377G>T c.509G>T (p.Gly170Val) | dbSNP gnomAD v2 |
22 | g.42128797C= | CA2406579473 | CYP2D6 | c.500G= (p.Gly167=) c.653G= (p.Gly218=) c.320G= (p.Gly107=) c.587G= (p.Gly196=) n.1377G= c.509G= (p.Gly170=) | |
22 | g.42128797C>G | CA411773766 | CYP2D6 | c.500G>C (p.Gly167Ala) c.653G>C (p.Gly218Ala) c.320G>C (p.Gly107Ala) c.587G>C (p.Gly196Ala) n.1377G>C c.509G>C (p.Gly170Ala) | |
22 | g.42128797C>T | CA411773768 | CYP2D6 | c.500G>A (p.Gly167Asp) c.653G>A (p.Gly218Asp) c.320G>A (p.Gly107Asp) c.587G>A (p.Gly196Asp) n.1377G>A c.509G>A (p.Gly170Asp) | ClinVar dbSNP gnomAD v4 |
22 | g.42128798C>A | CA411773770 | CYP2D6 | c.499G>T (p.Gly167Cys) c.652G>T (p.Gly218Cys) c.319G>T (p.Gly107Cys) c.586G>T (p.Gly196Cys) n.1376G>T c.508G>T (p.Gly170Cys) | gnomAD v4 |
22 | g.42128798C= | CA2406579474 | CYP2D6 | c.499G= (p.Gly167=) c.652G= (p.Gly218=) c.319G= (p.Gly107=) c.586G= (p.Gly196=) n.1376G= c.508G= (p.Gly170=) | |
22 | g.42128798C>G | CA10264983 | CYP2D6 | c.499G>C (p.Gly167Arg) c.652G>C (p.Gly218Arg) c.319G>C (p.Gly107Arg) c.586G>C (p.Gly196Arg) n.1376G>C c.508G>C (p.Gly170Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128798C>T | CA411773771 | CYP2D6 | c.499G>A (p.Gly167Ser) c.652G>A (p.Gly218Ser) c.319G>A (p.Gly107Ser) c.586G>A (p.Gly196Ser) n.1376G>A c.508G>A (p.Gly170Ser) | dbSNP |
22 | g.42128799C>A | CA514696668 | CYP2D6 | c.498G>T (p.Ser166=) c.651G>T (p.Ser217=) c.318G>T (p.Ser106=) c.585G>T (p.Ser195=) n.1375G>T c.507G>T (p.Ser169=) | gnomAD v4 |