| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) | |
| 22 | g.42128258C>G | CA411773357 | CYP2D6 | c.606G>C (p.Glu202Asp) c.759G>C (p.Glu253Asp) c.426G>C (p.Glu142Asp) c.693G>C (p.Glu231Asp) n.1483G>C c.615G>C (p.Glu205Asp) | |
| 22 | g.42128258C>T | CA10264888 | CYP2D6 | c.606G>A (p.Glu202=) c.759G>A (p.Glu253=) c.426G>A (p.Glu142=) c.693G>A (p.Glu231=) n.1483G>A c.615G>A (p.Glu205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128259del | CA2657032109 | CYP2D6 | c.605del (p.Glu202GlyfsTer3) c.758del (p.Glu253GlyfsTer3) c.425del (p.Glu142GlyfsTer3) c.692del (p.Glu231GlyfsTer3) n.1482del c.614del (p.Glu205GlyfsTer3) | gnomAD v4 |
| 22 | g.42128259T>A | CA411773360 | CYP2D6 | c.605A>T (p.Glu202Val) c.758A>T (p.Glu253Val) c.425A>T (p.Glu142Val) c.692A>T (p.Glu231Val) n.1482A>T c.614A>T (p.Glu205Val) | |
| 22 | g.42128259T>C | CA411773362 | CYP2D6 | c.605A>G (p.Glu202Gly) c.758A>G (p.Glu253Gly) c.425A>G (p.Glu142Gly) c.692A>G (p.Glu231Gly) n.1482A>G c.614A>G (p.Glu205Gly) | |
| 22 | g.42128259T>G | CA411773364 | CYP2D6 | c.605A>C (p.Glu202Ala) c.758A>C (p.Glu253Ala) c.425A>C (p.Glu142Ala) c.692A>C (p.Glu231Ala) n.1482A>C c.614A>C (p.Glu205Ala) | |
| 22 | g.42128259_42128261delinsTCA | CA2406579053 | CYP2D6 | c.603_605delinsTGA (p.Asp201=) c.756_758delinsTGA (p.Asp252=) c.423_425delinsTGA (p.Asp141=) c.690_692delinsTGA (p.Asp230=) n.1480_1482delinsTGA c.612_614delinsTGA (p.Asp204=) | |
| 22 | g.42128260C>A | CA411773367 | CYP2D6 | c.604G>T (p.Glu202Ter) c.757G>T (p.Glu253Ter) c.424G>T (p.Glu142Ter) c.691G>T (p.Glu231Ter) n.1481G>T c.613G>T (p.Glu205Ter) | dbSNP |
| 22 | g.42128260C>G | CA411773369 | CYP2D6 | c.604G>C (p.Glu202Gln) c.757G>C (p.Glu253Gln) c.424G>C (p.Glu142Gln) c.691G>C (p.Glu231Gln) n.1481G>C c.613G>C (p.Glu205Gln) | |
| 22 | g.42128260C>T | CA411773370 | CYP2D6 | c.604G>A (p.Glu202Lys) c.757G>A (p.Glu253Lys) c.424G>A (p.Glu142Lys) c.691G>A (p.Glu231Lys) n.1481G>A c.613G>A (p.Glu205Lys) | gnomAD v4 |
| 22 | g.42128260_42128261del | CA639827956 | CYP2D6 | c.603_604del (p.Asp201GlufsTer5) c.756_757del (p.Asp252GlufsTer5) c.423_424del (p.Asp141GlufsTer5) c.690_691del (p.Asp230GlufsTer5) n.1480_1481del c.612_613del (p.Asp204GlufsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128261A= | CA2406579054 | CYP2D6 | c.603T= (p.Asp201=) c.756T= (p.Asp252=) c.423T= (p.Asp141=) c.690T= (p.Asp230=) n.1480T= c.612T= (p.Asp204=) | |
| 22 | g.42128261A>C | CA411773371 | CYP2D6 | c.603T>G (p.Asp201Glu) c.756T>G (p.Asp252Glu) c.423T>G (p.Asp141Glu) c.690T>G (p.Asp230Glu) n.1480T>G c.612T>G (p.Asp204Glu) | gnomAD v4 |
| 22 | g.42128261A>G | CA514800307 | CYP2D6 | c.603T>C (p.Asp201=) c.756T>C (p.Asp252=) c.423T>C (p.Asp141=) c.690T>C (p.Asp230=) n.1480T>C c.612T>C (p.Asp204=) | |
| 22 | g.42128261A>T | CA10264889 | CYP2D6 | c.603T>A (p.Asp201Glu) c.756T>A (p.Asp252Glu) c.423T>A (p.Asp141Glu) c.690T>A (p.Asp230Glu) n.1480T>A c.612T>A (p.Asp204Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |