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.42128173_42128176delinsCCTT | CA2406578974 | CYP2D6 | c.688_690+1delinsAAGG c.841_843+1delinsAAGG c.508_510+1delinsAAGG c.775_777+1delinsAAGG n.1565_1567+1delinsAAGG c.697_699+1delinsAAGG | |
| 22 | g.42128176_42128178dup | CA2738133250 | CYP2D6 | c.688_690dup (p.Lys230_Trp231insLys) c.841_843dup (p.Lys281_Ala282insLys) c.688_690dup (p.Lys230_Ala231insLys) c.508_510dup (p.Lys170_Trp171insLys) c.775_777dup (p.Lys259_Ala260insLys) n.1565_1567dup c.697_699dup (p.Lys233_Ala234insLys) | dbSNP |
| 22 | g.42128176_42128178del | CA10264848 | CYP2D6 | c.688_690del (p.Lys230del) c.841_843del (p.Lys281del) c.508_510del (p.Lys170del) c.775_777del (p.Lys259del) n.1565_1567del c.697_699del (p.Lys233del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.42128176del | CA324670810 | CYP2D6 | c.689del (p.Lys230SerfsTer4) c.842del (p.Lys281ArgfsTer17) c.689del (p.Lys230ArgfsTer17) c.509del (p.Lys170SerfsTer4) c.776del (p.Lys259ArgfsTer17) n.1566del c.698del (p.Lys233ArgfsTer17) c.842del (p.Lys281ArgfsTer21) | dbSNP |
| 22 | g.42128176T>A | CA411772994 | CYP2D6 | c.688A>T (p.Lys230Ter) c.841A>T (p.Lys281Ter) c.508A>T (p.Lys170Ter) c.775A>T (p.Lys259Ter) n.1565A>T c.697A>T (p.Lys233Ter) | |
| 22 | g.42128176T>C | CA411772992 | CYP2D6 | c.688A>G (p.Lys230Glu) c.841A>G (p.Lys281Glu) c.508A>G (p.Lys170Glu) c.775A>G (p.Lys259Glu) n.1565A>G c.697A>G (p.Lys233Glu) | dbSNP gnomAD v4 |
| 22 | g.42128176T>G | CA411772995 | CYP2D6 | c.688A>C (p.Lys230Gln) c.841A>C (p.Lys281Gln) c.508A>C (p.Lys170Gln) c.775A>C (p.Lys259Gln) n.1565A>C c.697A>C (p.Lys233Gln) | |
| 22 | g.42128176T= | CA2406578980 | CYP2D6 | c.688A= (p.Lys230=) c.841A= (p.Lys281=) c.508A= (p.Lys170=) c.775A= (p.Lys259=) n.1565A= c.697A= (p.Lys233=) | |
| 22 | g.42128176_42128179delinsTCTC | CA2406578979 | CYP2D6 | c.685_688delinsGAGA (p.Glu229=) c.838_841delinsGAGA (p.Glu280=) c.505_508delinsGAGA (p.Glu169=) c.772_775delinsGAGA (p.Glu258=) n.1562_1565delinsGAGA c.694_697delinsGAGA (p.Glu232=) | |
| 22 | g.42128177C>A | CA411772998 | CYP2D6 | c.687G>T (p.Glu229Asp) c.840G>T (p.Glu280Asp) c.507G>T (p.Glu169Asp) c.774G>T (p.Glu258Asp) n.1564G>T c.696G>T (p.Glu232Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128177C= | CA2406578981 | CYP2D6 | c.687G= (p.Glu229=) c.840G= (p.Glu280=) c.507G= (p.Glu169=) c.774G= (p.Glu258=) n.1564G= c.696G= (p.Glu232=) | |
| 22 | g.42128177C>G | CA411773001 | CYP2D6 | c.687G>C (p.Glu229Asp) c.840G>C (p.Glu280Asp) c.507G>C (p.Glu169Asp) c.774G>C (p.Glu258Asp) n.1564G>C c.696G>C (p.Glu232Asp) | |
| 22 | g.42128177C>T | CA514800261 | CYP2D6 | c.687G>A (p.Glu229=) c.840G>A (p.Glu280=) c.507G>A (p.Glu169=) c.774G>A (p.Glu258=) n.1564G>A c.696G>A (p.Glu232=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128178_42128180del | CA10264850 | CYP2D6 | c.685_687del (p.Glu229del) c.838_840del (p.Glu280del) c.505_507del (p.Glu169del) c.772_774del (p.Glu258del) n.1562_1564del c.694_696del (p.Glu232del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128178T>A | CA411773004 | CYP2D6 | c.686A>T (p.Glu229Val) c.839A>T (p.Glu280Val) c.506A>T (p.Glu169Val) c.773A>T (p.Glu258Val) n.1563A>T c.695A>T (p.Glu232Val) | |
| 22 | g.42128178T>C | CA411773005 | CYP2D6 | c.686A>G (p.Glu229Gly) c.839A>G (p.Glu280Gly) c.506A>G (p.Glu169Gly) c.773A>G (p.Glu258Gly) n.1563A>G c.695A>G (p.Glu232Gly) | |
| 22 | g.42128178T>G | CA411773006 | CYP2D6 | c.686A>C (p.Glu229Ala) c.839A>C (p.Glu280Ala) c.506A>C (p.Glu169Ala) c.773A>C (p.Glu258Ala) n.1563A>C c.695A>C (p.Glu232Ala) | |
| 22 | g.42128179C>A | CA411773008 | CYP2D6 | c.685G>T (p.Glu229Ter) c.838G>T (p.Glu280Ter) c.505G>T (p.Glu169Ter) c.772G>T (p.Glu258Ter) n.1562G>T c.694G>T (p.Glu232Ter) | |
| 22 | g.42128179C>G | CA411773009 | CYP2D6 | c.685G>C (p.Glu229Gln) c.838G>C (p.Glu280Gln) c.505G>C (p.Glu169Gln) c.772G>C (p.Glu258Gln) n.1562G>C c.694G>C (p.Glu232Gln) | |
| 22 | g.42128179C>T | CA411773011 | CYP2D6 | c.685G>A (p.Glu229Lys) c.838G>A (p.Glu280Lys) c.505G>A (p.Glu169Lys) c.772G>A (p.Glu258Lys) n.1562G>A c.694G>A (p.Glu232Lys) | |
| 22 | g.42128180C>A | CA411773012 | CYP2D6 | c.684G>T (p.Met228Ile) c.837G>T (p.Met279Ile) c.504G>T (p.Met168Ile) c.771G>T (p.Met257Ile) n.1561G>T c.693G>T (p.Met231Ile) | |
| 22 | g.42128180C= | CA2406578982 | CYP2D6 | c.684G= (p.Met228=) c.837G= (p.Met279=) c.504G= (p.Met168=) c.771G= (p.Met257=) n.1561G= c.693G= (p.Met231=) | |
| 22 | g.42128180C>G | CA411773014 | CYP2D6 | c.684G>C (p.Met228Ile) c.837G>C (p.Met279Ile) c.504G>C (p.Met168Ile) c.771G>C (p.Met257Ile) n.1561G>C c.693G>C (p.Met231Ile) | |
| 22 | g.42128180C>T | CA10264851 | CYP2D6 | c.684G>A (p.Met228Ile) c.837G>A (p.Met279Ile) c.504G>A (p.Met168Ile) c.771G>A (p.Met257Ile) n.1561G>A c.693G>A (p.Met231Ile) | dbSNP ExAC |
| 22 | g.42128181A= | CA2406578983 | CYP2D6 | c.683T= (p.Met228=) c.836T= (p.Met279=) c.503T= (p.Met168=) c.770T= (p.Met257=) n.1560T= c.692T= (p.Met231=) | |
| 22 | g.42128181A>C | CA411773017 | CYP2D6 | c.683T>G (p.Met228Arg) c.836T>G (p.Met279Arg) c.503T>G (p.Met168Arg) c.770T>G (p.Met257Arg) n.1560T>G c.692T>G (p.Met231Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128181A>G | CA411773020 | CYP2D6 | c.683T>C (p.Met228Thr) c.836T>C (p.Met279Thr) c.503T>C (p.Met168Thr) c.770T>C (p.Met257Thr) n.1560T>C c.692T>C (p.Met231Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128181A>T | CA10264852 | CYP2D6 | c.683T>A (p.Met228Lys) c.836T>A (p.Met279Lys) c.503T>A (p.Met168Lys) c.770T>A (p.Met257Lys) n.1560T>A c.692T>A (p.Met231Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128182T>A | CA411773023 | CYP2D6 | c.682A>T (p.Met228Leu) c.835A>T (p.Met279Leu) c.502A>T (p.Met168Leu) c.769A>T (p.Met257Leu) n.1559A>T c.691A>T (p.Met231Leu) | |
| 22 | g.42128182T>C | CA411773026 | CYP2D6 | c.682A>G (p.Met228Val) c.835A>G (p.Met279Val) c.502A>G (p.Met168Val) c.769A>G (p.Met257Val) n.1559A>G c.691A>G (p.Met231Val) | |
| 22 | g.42128182T>G | CA411773025 | CYP2D6 | c.682A>C (p.Met228Leu) c.835A>C (p.Met279Leu) c.502A>C (p.Met168Leu) c.769A>C (p.Met257Leu) n.1559A>C c.691A>C (p.Met231Leu) | |
| 22 | g.42128183C>A | CA10264853 | CYP2D6 | c.681G>T (p.Glu227Asp) c.834G>T (p.Glu278Asp) c.501G>T (p.Glu167Asp) c.768G>T (p.Glu256Asp) n.1558G>T c.690G>T (p.Glu230Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128183C= | CA2406578984 | CYP2D6 | c.681G= (p.Glu227=) c.834G= (p.Glu278=) c.501G= (p.Glu167=) c.768G= (p.Glu256=) n.1558G= c.690G= (p.Glu230=) | |
| 22 | g.42128183C>G | CA411773029 | CYP2D6 | c.681G>C (p.Glu227Asp) c.834G>C (p.Glu278Asp) c.501G>C (p.Glu167Asp) c.768G>C (p.Glu256Asp) n.1558G>C c.690G>C (p.Glu230Asp) | gnomAD v4 |
| 22 | g.42128183C>T | CA514800262 | CYP2D6 | c.681G>A (p.Glu227=) c.834G>A (p.Glu278=) c.501G>A (p.Glu167=) c.768G>A (p.Glu256=) n.1558G>A c.690G>A (p.Glu230=) | gnomAD v4 |
| 22 | g.42128184T>A | CA411773032 | CYP2D6 | c.680A>T (p.Glu227Val) c.833A>T (p.Glu278Val) c.500A>T (p.Glu167Val) c.767A>T (p.Glu256Val) n.1557A>T c.689A>T (p.Glu230Val) | |
| 22 | g.42128184T>C | CA411773034 | CYP2D6 | c.680A>G (p.Glu227Gly) c.833A>G (p.Glu278Gly) c.500A>G (p.Glu167Gly) c.767A>G (p.Glu256Gly) n.1557A>G c.689A>G (p.Glu230Gly) | gnomAD v4 |
| 22 | g.42128184T>G | CA411773035 | CYP2D6 | c.680A>C (p.Glu227Ala) c.833A>C (p.Glu278Ala) c.500A>C (p.Glu167Ala) c.767A>C (p.Glu256Ala) n.1557A>C c.689A>C (p.Glu230Ala) | gnomAD v4 |
| 22 | g.42128185C>A | CA411773038 | CYP2D6 | c.679G>T (p.Glu227Ter) c.832G>T (p.Glu278Ter) c.499G>T (p.Glu167Ter) c.766G>T (p.Glu256Ter) n.1556G>T c.688G>T (p.Glu230Ter) | |
| 22 | g.42128185C= | CA2406578985 | CYP2D6 | c.679G= (p.Glu227=) c.832G= (p.Glu278=) c.499G= (p.Glu167=) c.766G= (p.Glu256=) n.1556G= c.688G= (p.Glu230=) | |
| 22 | g.42128185C>G | CA411773040 | CYP2D6 | c.679G>C (p.Glu227Gln) c.832G>C (p.Glu278Gln) c.499G>C (p.Glu167Gln) c.766G>C (p.Glu256Gln) n.1556G>C c.688G>C (p.Glu230Gln) | |
| 22 | g.42128185C>T | CA10264854 | CYP2D6 | c.679G>A (p.Glu227Lys) c.832G>A (p.Glu278Lys) c.499G>A (p.Glu167Lys) c.766G>A (p.Glu256Lys) n.1556G>A c.688G>A (p.Glu230Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128186T>A | CA514800263 | CYP2D6 | c.678A>T (p.Ala226=) c.831A>T (p.Ala277=) c.498A>T (p.Ala166=) c.765A>T (p.Ala255=) n.1555A>T c.687A>T (p.Ala229=) | |
| 22 | g.42128186T>C | CA514800264 | CYP2D6 | c.678A>G (p.Ala226=) c.831A>G (p.Ala277=) c.498A>G (p.Ala166=) c.765A>G (p.Ala255=) n.1555A>G c.687A>G (p.Ala229=) | |
| 22 | g.42128186T>G | CA10264855 | CYP2D6 | c.678A>C (p.Ala226=) c.831A>C (p.Ala277=) c.498A>C (p.Ala166=) c.765A>C (p.Ala255=) n.1555A>C c.687A>C (p.Ala229=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42128186T= | CA2406578986 | CYP2D6 | c.678A= (p.Ala226=) c.831A= (p.Ala277=) c.498A= (p.Ala166=) c.765A= (p.Ala255=) n.1555A= c.687A= (p.Ala229=) | |
| 22 | g.42128187G>A | CA411773045 | CYP2D6 | c.677C>T (p.Ala226Val) c.830C>T (p.Ala277Val) c.497C>T (p.Ala166Val) c.764C>T (p.Ala255Val) n.1554C>T c.686C>T (p.Ala229Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128187G>C | CA411773047 | CYP2D6 | c.677C>G (p.Ala226Gly) c.830C>G (p.Ala277Gly) c.497C>G (p.Ala166Gly) c.764C>G (p.Ala255Gly) n.1554C>G c.686C>G (p.Ala229Gly) | gnomAD v4 |
| 22 | g.42128187G= | CA2406578987 | CYP2D6 | c.677C= (p.Ala226=) c.830C= (p.Ala277=) c.497C= (p.Ala166=) c.764C= (p.Ala255=) n.1554C= c.686C= (p.Ala229=) | |
| 22 | g.42128187G>T | CA411773043 | CYP2D6 | c.677C>A (p.Ala226Glu) c.830C>A (p.Ala277Glu) c.497C>A (p.Ala166Glu) c.764C>A (p.Ala255Glu) n.1554C>A c.686C>A (p.Ala229Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |