UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 22 | g.42128266G>T | CA411773393 | CYP2D6 | c.598C>A (p.Leu200Met) c.751C>A (p.Leu251Met) c.418C>A (p.Leu140Met) c.685C>A (p.Leu229Met) n.1475C>A c.607C>A (p.Leu203Met) | |
| 22 | g.42128267C>A | CA411773395 | CYP2D6 | c.597G>T (p.Gln199His) c.750G>T (p.Gln250His) c.417G>T (p.Gln139His) c.684G>T (p.Gln228His) n.1474G>T c.606G>T (p.Gln202His) | gnomAD v4 |
| 22 | g.42128267C>G | CA411773396 | CYP2D6 | c.597G>C (p.Gln199His) c.750G>C (p.Gln250His) c.417G>C (p.Gln139His) c.684G>C (p.Gln228His) n.1474G>C c.606G>C (p.Gln202His) | |
| 22 | g.42128267C>T | CA514800311 | CYP2D6 | c.597G>A (p.Gln199=) c.750G>A (p.Gln250=) c.417G>A (p.Gln139=) c.684G>A (p.Gln228=) n.1474G>A c.606G>A (p.Gln202=) | dbSNP |
| 22 | g.42128267_42128268del | CA2819054045 | CYP2D6 | c.596_597del (p.Gln199ProfsTer3) c.749_750del (p.Gln250ProfsTer3) c.416_417del (p.Gln139ProfsTer3) c.683_684del (p.Gln228ProfsTer3) n.1473_1474del c.605_606del (p.Gln202ProfsTer3) | |
| 22 | g.42128268T>A | CA411773399 | CYP2D6 | c.596A>T (p.Gln199Leu) c.749A>T (p.Gln250Leu) c.416A>T (p.Gln139Leu) c.683A>T (p.Gln228Leu) n.1473A>T c.605A>T (p.Gln202Leu) | |
| 22 | g.42128268T>C | CA411773400 | CYP2D6 | c.596A>G (p.Gln199Arg) c.749A>G (p.Gln250Arg) c.416A>G (p.Gln139Arg) c.683A>G (p.Gln228Arg) n.1473A>G c.605A>G (p.Gln202Arg) | |
| 22 | g.42128268T>G | CA411773403 | CYP2D6 | c.596A>C (p.Gln199Pro) c.749A>C (p.Gln250Pro) c.416A>C (p.Gln139Pro) c.683A>C (p.Gln228Pro) n.1473A>C c.605A>C (p.Gln202Pro) | COSMIC COSMIC |
| 22 | g.42128269G>A | CA411773405 | CYP2D6 | c.595C>T (p.Gln199Ter) c.748C>T (p.Gln250Ter) c.415C>T (p.Gln139Ter) c.682C>T (p.Gln228Ter) n.1472C>T c.604C>T (p.Gln202Ter) | gnomAD v4 |
| 22 | g.42128269G>C | CA411773407 | CYP2D6 | c.595C>G (p.Gln199Glu) c.748C>G (p.Gln250Glu) c.415C>G (p.Gln139Glu) c.682C>G (p.Gln228Glu) n.1472C>G c.604C>G (p.Gln202Glu) | |
| 22 | g.42128269G>T | CA411773406 | CYP2D6 | c.595C>A (p.Gln199Lys) c.748C>A (p.Gln250Lys) c.415C>A (p.Gln139Lys) c.682C>A (p.Gln228Lys) n.1472C>A c.604C>A (p.Gln202Lys) | |
| 22 | g.42128270G>A | CA514800312 | CYP2D6 | c.594C>T (p.Thr198=) c.747C>T (p.Thr249=) c.414C>T (p.Thr138=) c.681C>T (p.Thr227=) n.1471C>T c.603C>T (p.Thr201=) | |
| 22 | g.42128270G>C | CA514800313 | CYP2D6 | c.594C>G (p.Thr198=) c.747C>G (p.Thr249=) c.414C>G (p.Thr138=) c.681C>G (p.Thr227=) n.1471C>G c.603C>G (p.Thr201=) | |
| 22 | g.42128270G>T | CA514800314 | CYP2D6 | c.594C>A (p.Thr198=) c.747C>A (p.Thr249=) c.414C>A (p.Thr138=) c.681C>A (p.Thr227=) n.1471C>A c.603C>A (p.Thr201=) | |
| 22 | g.42128270_42128277delinsGGTCAGGA | CA2406579060 | CYP2D6 | c.587_594delinsTCCTGACC (p.Phe196=) c.740_747delinsTCCTGACC (p.Phe247=) c.407_414delinsTCCTGACC (p.Phe136=) c.674_681delinsTCCTGACC (p.Phe225=) n.1464_1471delinsTCCTGACC c.596_603delinsTCCTGACC (p.Phe199=) | |
| 22 | g.42128271G>A | CA411773409 | CYP2D6 | c.593C>T (p.Thr198Ile) c.746C>T (p.Thr249Ile) c.413C>T (p.Thr138Ile) c.680C>T (p.Thr227Ile) n.1470C>T c.602C>T (p.Thr201Ile) | |
| 22 | g.42128271G>C | CA10264891 | CYP2D6 | c.593C>G (p.Thr198Ser) c.746C>G (p.Thr249Ser) c.413C>G (p.Thr138Ser) c.680C>G (p.Thr227Ser) n.1470C>G c.602C>G (p.Thr201Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128271G= | CA2406579061 | CYP2D6 | c.593C= (p.Thr198=) c.746C= (p.Thr249=) c.413C= (p.Thr138=) c.680C= (p.Thr227=) n.1470C= c.602C= (p.Thr201=) | |
| 22 | g.42128271G>T | CA411773412 | CYP2D6 | c.593C>A (p.Thr198Asn) c.746C>A (p.Thr249Asn) c.413C>A (p.Thr138Asn) c.680C>A (p.Thr227Asn) n.1470C>A c.602C>A (p.Thr201Asn) | |
| 22 | g.42128271_42128277del | CA639827958 | CYP2D6 | c.587_593del (p.Phe196SerfsTer7) c.740_746del (p.Phe247SerfsTer7) c.407_413del (p.Phe136SerfsTer7) c.674_680del (p.Phe225SerfsTer7) n.1464_1470del c.596_602del (p.Phe199SerfsTer7) | dbSNP gnomAD v2 gnomAD v4 |