Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
22 | g.42128262T>A | CA411773374 | CYP2D6 | c.602A>T (p.Asp201Val) c.755A>T (p.Asp252Val) c.422A>T (p.Asp141Val) c.689A>T (p.Asp230Val) n.1479A>T c.611A>T (p.Asp204Val) | |
22 | g.42128262T>C | CA411773377 | CYP2D6 | c.602A>G (p.Asp201Gly) c.755A>G (p.Asp252Gly) c.422A>G (p.Asp141Gly) c.689A>G (p.Asp230Gly) n.1479A>G c.611A>G (p.Asp204Gly) | ClinVar dbSNP |
22 | g.42128262T>G | CA411773375 | CYP2D6 | c.602A>C (p.Asp201Ala) c.755A>C (p.Asp252Ala) c.422A>C (p.Asp141Ala) c.689A>C (p.Asp230Ala) n.1479A>C c.611A>C (p.Asp204Ala) | |
22 | g.42128262T= | CA2406579056 | CYP2D6 | c.602A= (p.Asp201=) c.755A= (p.Asp252=) c.422A= (p.Asp141=) c.689A= (p.Asp230=) n.1479A= c.611A= (p.Asp204=) | |
22 | g.42128262_42128267delinsTCCAGC | CA2406579055 | CYP2D6 | c.597_602delinsGCTGGA (p.Gln199=) c.750_755delinsGCTGGA (p.Gln250=) c.417_422delinsGCTGGA (p.Gln139=) c.684_689delinsGCTGGA (p.Gln228=) n.1474_1479delinsGCTGGA c.606_611delinsGCTGGA (p.Gln202=) | |
22 | g.42128263C>A | CA411773379 | CYP2D6 | c.601G>T (p.Asp201Tyr) c.754G>T (p.Asp252Tyr) c.421G>T (p.Asp141Tyr) c.688G>T (p.Asp230Tyr) n.1478G>T c.610G>T (p.Asp204Tyr) | |
22 | g.42128263C= | CA2406579057 | CYP2D6 | c.601G= (p.Asp201=) c.754G= (p.Asp252=) c.421G= (p.Asp141=) c.688G= (p.Asp230=) n.1478G= c.610G= (p.Asp204=) | |
22 | g.42128263C>G | CA411773380 | CYP2D6 | c.601G>C (p.Asp201His) c.754G>C (p.Asp252His) c.421G>C (p.Asp141His) c.688G>C (p.Asp230His) n.1478G>C c.610G>C (p.Asp204His) | gnomAD v4 |
22 | g.42128263C>T | CA411773381 | CYP2D6 | c.601G>A (p.Asp201Asn) c.754G>A (p.Asp252Asn) c.421G>A (p.Asp141Asn) c.688G>A (p.Asp230Asn) n.1478G>A c.610G>A (p.Asp204Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42128263_42128267del | CA639827957 | CYP2D6 | c.597_601del (p.Leu200Ter) c.750_754del (p.Leu251Ter) c.417_421del (p.Leu140Ter) c.684_688del (p.Leu229Ter) n.1474_1478del c.606_610del (p.Leu203Ter) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42128264C>A | CA514800308 | CYP2D6 | c.600G>T (p.Leu200=) c.753G>T (p.Leu251=) c.420G>T (p.Leu140=) c.687G>T (p.Leu229=) n.1477G>T c.609G>T (p.Leu203=) | |
22 | g.42128264C= | CA2406579058 | CYP2D6 | c.600G= (p.Leu200=) c.753G= (p.Leu251=) c.420G= (p.Leu140=) c.687G= (p.Leu229=) n.1477G= c.609G= (p.Leu203=) | |
22 | g.42128264C>G | CA514800309 | CYP2D6 | c.600G>C (p.Leu200=) c.753G>C (p.Leu251=) c.420G>C (p.Leu140=) c.687G>C (p.Leu229=) n.1477G>C c.609G>C (p.Leu203=) | |
22 | g.42128264C>T | CA10264890 | CYP2D6 | c.600G>A (p.Leu200=) c.753G>A (p.Leu251=) c.420G>A (p.Leu140=) c.687G>A (p.Leu229=) n.1477G>A c.609G>A (p.Leu203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42128264_42128265del | CA2657032130 | CYP2D6 | c.599_600del (p.Leu200ArgfsTer2) c.752_753del (p.Leu251ArgfsTer2) c.419_420del (p.Leu140ArgfsTer2) c.686_687del (p.Leu229ArgfsTer2) n.1476_1477del c.608_609del (p.Leu203ArgfsTer2) | gnomAD v4 |
22 | g.42128265A>C | CA411773385 | CYP2D6 | c.599T>G (p.Leu200Arg) c.752T>G (p.Leu251Arg) c.419T>G (p.Leu140Arg) c.686T>G (p.Leu229Arg) n.1476T>G c.608T>G (p.Leu203Arg) | gnomAD v4 |
22 | g.42128265A>G | CA411773387 | CYP2D6 | c.599T>C (p.Leu200Pro) c.752T>C (p.Leu251Pro) c.419T>C (p.Leu140Pro) c.686T>C (p.Leu229Pro) n.1476T>C c.608T>C (p.Leu203Pro) | |
22 | g.42128265A>T | CA411773388 | CYP2D6 | c.599T>A (p.Leu200Gln) c.752T>A (p.Leu251Gln) c.419T>A (p.Leu140Gln) c.686T>A (p.Leu229Gln) n.1476T>A c.608T>A (p.Leu203Gln) | |
22 | g.42128266G>A | CA514800310 | CYP2D6 | c.598C>T (p.Leu200=) c.751C>T (p.Leu251=) c.418C>T (p.Leu140=) c.685C>T (p.Leu229=) n.1475C>T c.607C>T (p.Leu203=) | dbSNP gnomAD v4 |
22 | g.42128266G>C | CA411773391 | CYP2D6 | c.598C>G (p.Leu200Val) c.751C>G (p.Leu251Val) c.418C>G (p.Leu140Val) c.685C>G (p.Leu229Val) n.1475C>G c.607C>G (p.Leu203Val) | dbSNP gnomAD v4 |
22 | g.42128266G= | CA2406579059 | CYP2D6 | c.598C= (p.Leu200=) c.751C= (p.Leu251=) c.418C= (p.Leu140=) c.685C= (p.Leu229=) n.1475C= c.607C= (p.Leu203=) |