| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42128244_42128250delinsTGCTCAG | CA2406579039 | CYP2D6 | c.614_620delinsCTGAGCA (p.Thr205=) c.767_773delinsCTGAGCA (p.Thr256=) c.434_440delinsCTGAGCA (p.Thr145=) c.701_707delinsCTGAGCA (p.Thr234=) n.1491_1497delinsCTGAGCA c.623_629delinsCTGAGCA (p.Thr208=) | |
| 22 | g.42128245_42128250del | CA639827952 | CYP2D6 | c.614_619del (p.Thr205_His207delinsAsn) c.767_772del (p.Thr256_His258delinsAsn) c.434_439del (p.Thr145_His147delinsAsn) c.701_706del (p.Thr234_His236delinsAsn) n.1491_1496del c.623_628del (p.Thr208_His210delinsAsn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128248C>A | CA411773316 | CYP2D6 | c.616G>T (p.Glu206Ter) c.769G>T (p.Glu257Ter) c.436G>T (p.Glu146Ter) c.703G>T (p.Glu235Ter) n.1493G>T c.625G>T (p.Glu209Ter) | dbSNP |
| 22 | g.42128248C= | CA2406579042 | CYP2D6 | c.616G= (p.Glu206=) c.769G= (p.Glu257=) c.436G= (p.Glu146=) c.703G= (p.Glu235=) n.1493G= c.625G= (p.Glu209=) | |
| 22 | g.42128248C>G | CA10264885 | CYP2D6 | c.616G>C (p.Glu206Gln) c.769G>C (p.Glu257Gln) c.436G>C (p.Glu146Gln) c.703G>C (p.Glu235Gln) n.1493G>C c.625G>C (p.Glu209Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128248C>T | CA411773313 | CYP2D6 | c.616G>A (p.Glu206Lys) c.769G>A (p.Glu257Lys) c.436G>A (p.Glu146Lys) c.703G>A (p.Glu235Lys) n.1493G>A c.625G>A (p.Glu209Lys) | |
| 22 | g.42128248_42128249del | CA2657032083 | CYP2D6 | c.615_616del (p.Glu206AlafsTer16) c.768_769del (p.Glu257AlafsTer16) c.435_436del (p.Glu146AlafsTer16) c.702_703del (p.Glu235AlafsTer16) n.1492_1493del c.624_625del (p.Glu209AlafsTer16) | gnomAD v4 |
| 22 | g.42128248_42128252delinsCAGTT | CA2406579041 | CYP2D6 | c.612_616delinsAACTG (p.Leu204=) c.765_769delinsAACTG (p.Leu255=) c.432_436delinsAACTG (p.Leu144=) c.699_703delinsAACTG (p.Leu233=) n.1489_1493delinsAACTG c.621_625delinsAACTG (p.Leu207=) | |
| 22 | g.42128249A= | CA2406579043 | CYP2D6 | c.615T= (p.Thr205=) c.768T= (p.Thr256=) c.435T= (p.Thr145=) c.702T= (p.Thr234=) n.1492T= c.624T= (p.Thr208=) | |
| 22 | g.42128249A>C | CA514800298 | CYP2D6 | c.615T>G (p.Thr205=) c.768T>G (p.Thr256=) c.435T>G (p.Thr145=) c.702T>G (p.Thr234=) n.1492T>G c.624T>G (p.Thr208=) | |
| 22 | g.42128249A>G | CA514800299 | CYP2D6 | c.615T>C (p.Thr205=) c.768T>C (p.Thr256=) c.435T>C (p.Thr145=) c.702T>C (p.Thr234=) n.1492T>C c.624T>C (p.Thr208=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42128249A>T | CA514800300 | CYP2D6 | c.615T>A (p.Thr205=) c.768T>A (p.Thr256=) c.435T>A (p.Thr145=) c.702T>A (p.Thr234=) n.1492T>A c.624T>A (p.Thr208=) | |
| 22 | g.42128251_42128254del | CA10264884 | CYP2D6 | c.612_615del (p.Thr205SerfsTer4) c.765_768del (p.Thr256SerfsTer4) c.432_435del (p.Thr145SerfsTer4) c.699_702del (p.Thr234SerfsTer4) n.1489_1492del c.621_624del (p.Thr208SerfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128250G>A | CA411773319 | CYP2D6 | c.614C>T (p.Thr205Ile) c.767C>T (p.Thr256Ile) c.434C>T (p.Thr145Ile) c.701C>T (p.Thr234Ile) n.1491C>T c.623C>T (p.Thr208Ile) | dbSNP |
| 22 | g.42128250G>C | CA411773321 | CYP2D6 | c.614C>G (p.Thr205Ser) c.767C>G (p.Thr256Ser) c.434C>G (p.Thr145Ser) c.701C>G (p.Thr234Ser) n.1491C>G c.623C>G (p.Thr208Ser) | |
| 22 | g.42128250G= | CA2406579044 | CYP2D6 | c.614C= (p.Thr205=) c.767C= (p.Thr256=) c.434C= (p.Thr145=) c.701C= (p.Thr234=) n.1491C= c.623C= (p.Thr208=) | |
| 22 | g.42128250G>T | CA411773323 | CYP2D6 | c.614C>A (p.Thr205Asn) c.767C>A (p.Thr256Asn) c.434C>A (p.Thr145Asn) c.701C>A (p.Thr234Asn) n.1491C>A c.623C>A (p.Thr208Asn) | gnomAD v4 |
| 22 | g.42128251T>A | CA411773325 | CYP2D6 | c.613A>T (p.Thr205Ser) c.766A>T (p.Thr256Ser) c.433A>T (p.Thr145Ser) c.700A>T (p.Thr234Ser) n.1490A>T c.622A>T (p.Thr208Ser) | dbSNP |
| 22 | g.42128251T>C | CA411773327 | CYP2D6 | c.613A>G (p.Thr205Ala) c.766A>G (p.Thr256Ala) c.433A>G (p.Thr145Ala) c.700A>G (p.Thr234Ala) n.1490A>G c.622A>G (p.Thr208Ala) | |
| 22 | g.42128251T>G | CA411773329 | CYP2D6 | c.613A>C (p.Thr205Pro) c.766A>C (p.Thr256Pro) c.433A>C (p.Thr145Pro) c.700A>C (p.Thr234Pro) n.1490A>C c.622A>C (p.Thr208Pro) | |
| 22 | g.42128252T>A | CA514800301 | CYP2D6 | c.612A>T (p.Leu204=) c.765A>T (p.Leu255=) c.432A>T (p.Leu144=) c.699A>T (p.Leu233=) n.1489A>T c.621A>T (p.Leu207=) | |
| 22 | g.42128252T>C | CA10264886 | CYP2D6 | c.612A>G (p.Leu204=) c.765A>G (p.Leu255=) c.432A>G (p.Leu144=) c.699A>G (p.Leu233=) n.1489A>G c.621A>G (p.Leu207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128252T>G | CA514800302 | CYP2D6 | c.612A>C (p.Leu204=) c.765A>C (p.Leu255=) c.432A>C (p.Leu144=) c.699A>C (p.Leu233=) n.1489A>C c.621A>C (p.Leu207=) | gnomAD v2 gnomAD v4 |
| 22 | g.42128252T= | CA2406579045 | CYP2D6 | c.612A= (p.Leu204=) c.765A= (p.Leu255=) c.432A= (p.Leu144=) c.699A= (p.Leu233=) n.1489A= c.621A= (p.Leu207=) | |
| 22 | g.42128252_42128255delinsTAGC | CA2406579046 | CYP2D6 | c.609_612delinsGCTA (p.Leu203=) c.762_765delinsGCTA (p.Leu254=) c.429_432delinsGCTA (p.Leu143=) c.696_699delinsGCTA (p.Leu232=) n.1486_1489delinsGCTA c.618_621delinsGCTA (p.Leu206=) | |
| 22 | g.42128253A= | CA2406579047 | CYP2D6 | c.611T= (p.Leu204=) c.764T= (p.Leu255=) c.431T= (p.Leu144=) c.698T= (p.Leu233=) n.1488T= c.620T= (p.Leu207=) | |
| 22 | g.42128253A>C | CA411773332 | CYP2D6 | c.611T>G (p.Leu204Arg) c.764T>G (p.Leu255Arg) c.431T>G (p.Leu144Arg) c.698T>G (p.Leu233Arg) n.1488T>G c.620T>G (p.Leu207Arg) | |
| 22 | g.42128253A>G | CA411773334 | CYP2D6 | c.611T>C (p.Leu204Pro) c.764T>C (p.Leu255Pro) c.431T>C (p.Leu144Pro) c.698T>C (p.Leu233Pro) n.1488T>C c.620T>C (p.Leu207Pro) | |
| 22 | g.42128253A>T | CA411773336 | CYP2D6 | c.611T>A (p.Leu204Gln) c.764T>A (p.Leu255Gln) c.431T>A (p.Leu144Gln) c.698T>A (p.Leu233Gln) n.1488T>A c.620T>A (p.Leu207Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128256_42128258dup | CA639827953 | CYP2D6 | c.609_611dup (p.Leu204_Thr205insLeu) c.762_764dup (p.Leu255_Thr256insLeu) c.429_431dup (p.Leu144_Thr145insLeu) c.696_698dup (p.Leu233_Thr234insLeu) n.1486_1488dup c.618_620dup (p.Leu207_Thr208insLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128256_42128258del | CA639827954 | CYP2D6 | c.609_611del (p.Leu204del) c.762_764del (p.Leu255del) c.429_431del (p.Leu144del) c.696_698del (p.Leu233del) n.1486_1488del c.618_620del (p.Leu207del) | dbSNP gnomAD v2 |
| 22 | g.42128254G>A | CA10264887 | CYP2D6 | c.610C>T (p.Leu204=) c.763C>T (p.Leu255=) c.430C>T (p.Leu144=) c.697C>T (p.Leu233=) n.1487C>T c.619C>T (p.Leu207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128254G>C | CA411773340 | CYP2D6 | c.610C>G (p.Leu204Val) c.763C>G (p.Leu255Val) c.430C>G (p.Leu144Val) c.697C>G (p.Leu233Val) n.1487C>G c.619C>G (p.Leu207Val) | |
| 22 | g.42128254G= | CA2406579048 | CYP2D6 | c.610C= (p.Leu204=) c.763C= (p.Leu255=) c.430C= (p.Leu144=) c.697C= (p.Leu233=) n.1487C= c.619C= (p.Leu207=) | |
| 22 | g.42128254G>T | CA411773341 | CYP2D6 | c.610C>A (p.Leu204Ile) c.763C>A (p.Leu255Ile) c.430C>A (p.Leu144Ile) c.697C>A (p.Leu233Ile) n.1487C>A c.619C>A (p.Leu207Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128255C>A | CA514800303 | CYP2D6 | c.609G>T (p.Leu203=) c.762G>T (p.Leu254=) c.429G>T (p.Leu143=) c.696G>T (p.Leu232=) n.1486G>T c.618G>T (p.Leu206=) | |
| 22 | g.42128255C>G | CA514800304 | CYP2D6 | c.609G>C (p.Leu203=) c.762G>C (p.Leu254=) c.429G>C (p.Leu143=) c.696G>C (p.Leu232=) n.1486G>C c.618G>C (p.Leu206=) | |
| 22 | g.42128255C>T | CA514800305 | CYP2D6 | c.609G>A (p.Leu203=) c.762G>A (p.Leu254=) c.429G>A (p.Leu143=) c.696G>A (p.Leu232=) n.1486G>A c.618G>A (p.Leu206=) | dbSNP gnomAD v4 |
| 22 | g.42128256A= | CA2406579049 | CYP2D6 | c.608T= (p.Leu203=) c.761T= (p.Leu254=) c.428T= (p.Leu143=) c.695T= (p.Leu232=) n.1485T= c.617T= (p.Leu206=) | |
| 22 | g.42128256A>C | CA411773348 | CYP2D6 | c.608T>G (p.Leu203Arg) c.761T>G (p.Leu254Arg) c.428T>G (p.Leu143Arg) c.695T>G (p.Leu232Arg) n.1485T>G c.617T>G (p.Leu206Arg) | |
| 22 | g.42128256A>G | CA411773344 | CYP2D6 | c.608T>C (p.Leu203Pro) c.761T>C (p.Leu254Pro) c.428T>C (p.Leu143Pro) c.695T>C (p.Leu232Pro) n.1485T>C c.617T>C (p.Leu206Pro) | ClinVar dbSNP |
| 22 | g.42128256A>T | CA411773346 | CYP2D6 | c.608T>A (p.Leu203Gln) c.761T>A (p.Leu254Gln) c.428T>A (p.Leu143Gln) c.695T>A (p.Leu232Gln) n.1485T>A c.617T>A (p.Leu206Gln) | |
| 22 | g.42128256_42128257delinsAG | CA2406579050 | CYP2D6 | c.607_608delinsCT (p.Leu203=) c.760_761delinsCT (p.Leu254=) c.427_428delinsCT (p.Leu143=) c.694_695delinsCT (p.Leu232=) n.1484_1485delinsCT c.616_617delinsCT (p.Leu206=) | |
| 22 | g.42128257del | CA639827955 | CYP2D6 | c.607del (p.Leu203CysfsTer2) c.760del (p.Leu254CysfsTer2) c.427del (p.Leu143CysfsTer2) c.694del (p.Leu232CysfsTer2) n.1484del c.616del (p.Leu206CysfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128257G>A | CA514800306 | CYP2D6 | c.607C>T (p.Leu203=) c.760C>T (p.Leu254=) c.427C>T (p.Leu143=) c.694C>T (p.Leu232=) n.1484C>T c.616C>T (p.Leu206=) | dbSNP |
| 22 | g.42128257G>C | CA411773350 | CYP2D6 | c.607C>G (p.Leu203Val) c.760C>G (p.Leu254Val) c.427C>G (p.Leu143Val) c.694C>G (p.Leu232Val) n.1484C>G c.616C>G (p.Leu206Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128257G= | CA2406579051 | CYP2D6 | c.607C= (p.Leu203=) c.760C= (p.Leu254=) c.427C= (p.Leu143=) c.694C= (p.Leu232=) n.1484C= c.616C= (p.Leu206=) | |
| 22 | g.42128257G>T | CA411773352 | CYP2D6 | c.607C>A (p.Leu203Met) c.760C>A (p.Leu254Met) c.427C>A (p.Leu143Met) c.694C>A (p.Leu232Met) n.1484C>A c.616C>A (p.Leu206Met) | |
| 22 | g.42128258C>A | CA411773354 | CYP2D6 | c.606G>T (p.Glu202Asp) c.759G>T (p.Glu253Asp) c.426G>T (p.Glu142Asp) c.693G>T (p.Glu231Asp) n.1483G>T c.615G>T (p.Glu205Asp) | |
| 22 | g.42128258C= | CA2406579052 | CYP2D6 | c.606G= (p.Glu202=) c.759G= (p.Glu253=) c.426G= (p.Glu142=) c.693G= (p.Glu231=) n.1483G= c.615G= (p.Glu205=) |