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 |
|---|---|---|---|---|---|
| 8 | g.18400679C>A | CA370636391 | NAT2 | c.676C>A (p.Gln226Lys) c.286C>A (p.Gln96Lys) | |
| 8 | g.18400679C>G | CA370636392 | NAT2 | c.676C>G (p.Gln226Glu) c.286C>G (p.Gln96Glu) | |
| 8 | g.18400679C>T | CA370636393 | NAT2 | c.676C>T (p.Gln226Ter) c.286C>T (p.Gln96Ter) | gnomAD v4 |
| 8 | g.18400680A>C | CA370636394 | NAT2 | c.677A>C (p.Gln226Pro) c.287A>C (p.Gln96Pro) | |
| 8 | g.18400680A>G | CA370636395 | NAT2 | c.677A>G (p.Gln226Arg) c.287A>G (p.Gln96Arg) | |
| 8 | g.18400680A>T | CA370636396 | NAT2 | c.677A>T (p.Gln226Leu) c.287A>T (p.Gln96Leu) | gnomAD v4 |
| 8 | g.18400681G>A | CA459881332 | NAT2 | c.678G>A (p.Gln226=) c.288G>A (p.Gln96=) | gnomAD v4 |
| 8 | g.18400681G>C | CA370636397 | NAT2 | c.678G>C (p.Gln226His) c.288G>C (p.Gln96His) | |
| 8 | g.18400681G>T | CA370636398 | NAT2 | c.678G>T (p.Gln226His) c.288G>T (p.Gln96His) | |
| 8 | g.18400682A>C | CA370636400 | NAT2 | c.679A>C (p.Thr227Pro) c.289A>C (p.Thr97Pro) | |
| 8 | g.18400682A>G | CA370636401 | NAT2 | c.679A>G (p.Thr227Ala) c.289A>G (p.Thr97Ala) | |
| 8 | g.18400682A>T | CA370636399 | NAT2 | c.679A>T (p.Thr227Ser) c.289A>T (p.Thr97Ser) | |
| 8 | g.18400683C>A | CA370636402 | NAT2 | c.680C>A (p.Thr227Asn) c.290C>A (p.Thr97Asn) | |
| 8 | g.18400683C>G | CA370636403 | NAT2 | c.680C>G (p.Thr227Ser) c.290C>G (p.Thr97Ser) | gnomAD v4 |
| 8 | g.18400683C>T | CA370636404 | NAT2 | c.680C>T (p.Thr227Ile) c.290C>T (p.Thr97Ile) | |
| 8 | g.18400686del | CA2686326440 | NAT2 | c.683del (p.Pro228GlnfsTer?) c.293del (p.Pro98GlnfsTer?) | gnomAD v4 |
| 8 | g.18400684C>A | CA459881334 | NAT2 | c.681C>A (p.Thr227=) c.291C>A (p.Thr97=) | |
| 8 | g.18400684C= | CA1768219096 | NAT2 | c.681C= (p.Thr227=) c.291C= (p.Thr97=) | |
| 8 | g.18400684C>G | CA459881333 | NAT2 | c.681C>G (p.Thr227=) c.291C>G (p.Thr97=) | |
| 8 | g.18400684C>T | CA173519934 | NAT2 | c.681C>T (p.Thr227=) c.291C>T (p.Thr97=) | dbSNP gnomAD v4 |
| 8 | g.18400685C>A | CA370636405 | NAT2 | c.682C>A (p.Pro228Thr) c.292C>A (p.Pro98Thr) | |
| 8 | g.18400685C= | CA1768219097 | NAT2 | c.682C= (p.Pro228=) c.292C= (p.Pro98=) | |
| 8 | g.18400685C>G | CA370636406 | NAT2 | c.682C>G (p.Pro228Ala) c.292C>G (p.Pro98Ala) | dbSNP gnomAD v4 |
| 8 | g.18400685C>T | CA4651675 | NAT2 | c.682C>T (p.Pro228Ser) c.292C>T (p.Pro98Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400686C>A | CA370636407 | NAT2 | c.683C>A (p.Pro228Gln) c.293C>A (p.Pro98Gln) | |
| 8 | g.18400686C= | CA1768219098 | NAT2 | c.683C= (p.Pro228=) c.293C= (p.Pro98=) | |
| 8 | g.18400686C>G | CA370636408 | NAT2 | c.683C>G (p.Pro228Arg) c.293C>G (p.Pro98Arg) | |
| 8 | g.18400686C>T | CA4651676 | NAT2 | c.683C>T (p.Pro228Leu) c.293C>T (p.Pro98Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400687A>C | CA459881335 | NAT2 | c.684A>C (p.Pro228=) c.294A>C (p.Pro98=) | |
| 8 | g.18400687A>G | CA459881336 | NAT2 | c.684A>G (p.Pro228=) c.294A>G (p.Pro98=) | gnomAD v4 |
| 8 | g.18400687A>T | CA459881337 | NAT2 | c.684A>T (p.Pro228=) c.294A>T (p.Pro98=) | |
| 8 | g.18400688G>A | CA370636409 | NAT2 | c.685G>A (p.Glu229Lys) c.295G>A (p.Glu99Lys) | |
| 8 | g.18400688G>C | CA370636410 | NAT2 | c.685G>C (p.Glu229Gln) c.295G>C (p.Glu99Gln) | |
| 8 | g.18400688G= | CA1768219099 | NAT2 | c.685G= (p.Glu229=) c.295G= (p.Glu99=) | |
| 8 | g.18400688G>T | CA370636411 | NAT2 | c.685G>T (p.Glu229Ter) c.295G>T (p.Glu99Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400689A= | CA1768219100 | NAT2 | c.686A= (p.Glu229=) c.296A= (p.Glu99=) | |
| 8 | g.18400689A>C | CA370636413 | NAT2 | c.686A>C (p.Glu229Ala) c.296A>C (p.Glu99Ala) | |
| 8 | g.18400689A>G | CA4651677 | NAT2 | c.686A>G (p.Glu229Gly) c.296A>G (p.Glu99Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400689A>T | CA370636412 | NAT2 | c.686A>T (p.Glu229Val) c.296A>T (p.Glu99Val) | |
| 8 | g.18400690A>C | CA370636414 | NAT2 | c.687A>C (p.Glu229Asp) c.297A>C (p.Glu99Asp) | |
| 8 | g.18400690A>G | CA459881338 | NAT2 | c.687A>G (p.Glu229=) c.297A>G (p.Glu99=) | |
| 8 | g.18400690A>T | CA370636415 | NAT2 | c.687A>T (p.Glu229Asp) c.297A>T (p.Glu99Asp) | COSMIC |
| 8 | g.18400691G>A | CA370636416 | NAT2 | c.688G>A (p.Gly230Arg) c.298G>A (p.Gly100Arg) | gnomAD v4 COSMIC |
| 8 | g.18400691G>C | CA370636417 | NAT2 | c.688G>C (p.Gly230Arg) c.298G>C (p.Gly100Arg) | |
| 8 | g.18400691G= | CA1768219101 | NAT2 | c.688G= (p.Gly230=) c.298G= (p.Gly100=) | |
| 8 | g.18400691G>T | CA173519935 | NAT2 | c.688G>T (p.Gly230Trp) c.298G>T (p.Gly100Trp) | dbSNP |
| 8 | g.18400692G>A | CA370636418 | NAT2 | c.689G>A (p.Gly230Glu) c.299G>A (p.Gly100Glu) | |
| 8 | g.18400692G>C | CA370636419 | NAT2 | c.689G>C (p.Gly230Ala) c.299G>C (p.Gly100Ala) | |
| 8 | g.18400692G= | CA1768219102 | NAT2 | c.689G= (p.Gly230=) c.299G= (p.Gly100=) | |
| 8 | g.18400692G>T | CA4651678 | NAT2 | c.689G>T (p.Gly230Val) c.299G>T (p.Gly100Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400693G>A | CA459881339 | NAT2 | c.690G>A (p.Gly230=) c.300G>A (p.Gly100=) | |
| 8 | g.18400693G>C | CA459881340 | NAT2 | c.690G>C (p.Gly230=) c.300G>C (p.Gly100=) | |
| 8 | g.18400693G>T | CA459881341 | NAT2 | c.690G>T (p.Gly230=) c.300G>T (p.Gly100=) | |
| 8 | g.18400694G>A | CA4651679 | NAT2 | c.691G>A (p.Val231Ile) c.301G>A (p.Val101Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400694G>C | CA370636420 | NAT2 | c.691G>C (p.Val231Leu) c.301G>C (p.Val101Leu) | |
| 8 | g.18400694G= | CA1768219103 | NAT2 | c.691G= (p.Val231=) c.301G= (p.Val101=) | |
| 8 | g.18400694G>T | CA370636421 | NAT2 | c.691G>T (p.Val231Phe) c.301G>T (p.Val101Phe) | gnomAD v4 |
| 8 | g.18400695T>A | CA370636422 | NAT2 | c.692T>A (p.Val231Asp) c.302T>A (p.Val101Asp) | |
| 8 | g.18400695T>C | CA370636423 | NAT2 | c.692T>C (p.Val231Ala) c.302T>C (p.Val101Ala) | |
| 8 | g.18400695T>G | CA370636424 | NAT2 | c.692T>G (p.Val231Gly) c.302T>G (p.Val101Gly) | |
| 8 | g.18400696T>A | CA459881342 | NAT2 | c.693T>A (p.Val231=) c.303T>A (p.Val101=) | |
| 8 | g.18400696T>C | CA459881343 | NAT2 | c.693T>C (p.Val231=) c.303T>C (p.Val101=) | |
| 8 | g.18400696T>G | CA459881344 | NAT2 | c.693T>G (p.Val231=) c.303T>G (p.Val101=) | |
| 8 | g.18400697T>A | CA370636427 | NAT2 | c.694T>A (p.Tyr232Asn) c.304T>A (p.Tyr102Asn) | |
| 8 | g.18400697T>C | CA370636426 | NAT2 | c.694T>C (p.Tyr232His) c.304T>C (p.Tyr102His) | |
| 8 | g.18400697T>G | CA370636425 | NAT2 | c.694T>G (p.Tyr232Asp) c.304T>G (p.Tyr102Asp) | |
| 8 | g.18400698A>C | CA370636428 | NAT2 | c.695A>C (p.Tyr232Ser) c.305A>C (p.Tyr102Ser) | |
| 8 | g.18400698A>G | CA370636429 | NAT2 | c.695A>G (p.Tyr232Cys) c.305A>G (p.Tyr102Cys) | |
| 8 | g.18400698A>T | CA370636430 | NAT2 | c.695A>T (p.Tyr232Phe) c.305A>T (p.Tyr102Phe) | |
| 8 | g.18400699C>A | CA370636431 | NAT2 | c.696C>A (p.Tyr232Ter) c.306C>A (p.Tyr102Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400699C= | CA1768219104 | NAT2 | c.696C= (p.Tyr232=) c.306C= (p.Tyr102=) | |
| 8 | g.18400699C>G | CA370636432 | NAT2 | c.696C>G (p.Tyr232Ter) c.306C>G (p.Tyr102Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400699C>T | CA459881345 | NAT2 | c.696C>T (p.Tyr232=) c.306C>T (p.Tyr102=) | |
| 8 | g.18400700T>A | CA370636434 | NAT2 | c.697T>A (p.Cys233Ser) c.307T>A (p.Cys103Ser) | |
| 8 | g.18400700T>C | CA370636435 | NAT2 | c.697T>C (p.Cys233Arg) c.307T>C (p.Cys103Arg) | |
| 8 | g.18400700T>G | CA370636436 | NAT2 | c.697T>G (p.Cys233Gly) c.307T>G (p.Cys103Gly) | |
| 8 | g.18400701G>A | CA370636437 | NAT2 | c.698G>A (p.Cys233Tyr) c.308G>A (p.Cys103Tyr) | gnomAD v4 |
| 8 | g.18400701G>C | CA370636439 | NAT2 | c.698G>C (p.Cys233Ser) c.308G>C (p.Cys103Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400701G= | CA1768219105 | NAT2 | c.698G= (p.Cys233=) c.308G= (p.Cys103=) | |
| 8 | g.18400701G>T | CA370636438 | NAT2 | c.698G>T (p.Cys233Phe) c.308G>T (p.Cys103Phe) | |
| 8 | g.18400702T>A | CA370636440 | NAT2 | c.699T>A (p.Cys233Ter) c.309T>A (p.Cys103Ter) | |
| 8 | g.18400702T>C | CA459699299 | NAT2 | c.699T>C (p.Cys233=) c.309T>C (p.Cys103=) | |
| 8 | g.18400702T>G | CA370636441 | NAT2 | c.699T>G (p.Cys233Trp) c.309T>G (p.Cys103Trp) | |
| 8 | g.18400703T>A | CA370636442 | NAT2 | c.700T>A (p.Leu234Met) c.310T>A (p.Leu104Met) | |
| 8 | g.18400703T>C | CA459699306 | NAT2 | c.700T>C (p.Leu234=) c.310T>C (p.Leu104=) | |
| 8 | g.18400703T>G | CA370636443 | NAT2 | c.700T>G (p.Leu234Val) c.310T>G (p.Leu104Val) | |
| 8 | g.18400704T>A | CA370636444 | NAT2 | c.701T>A (p.Leu234Ter) c.311T>A (p.Leu104Ter) | |
| 8 | g.18400704T>C | CA370636446 | NAT2 | c.701T>C (p.Leu234Ser) c.311T>C (p.Leu104Ser) | |
| 8 | g.18400704T>G | CA370636445 | NAT2 | c.701T>G (p.Leu234Trp) c.311T>G (p.Leu104Trp) | |
| 8 | g.18400705G>A | CA459699315 | NAT2 | c.702G>A (p.Leu234=) c.312G>A (p.Leu104=) | |
| 8 | g.18400705G>C | CA370636447 | NAT2 | c.702G>C (p.Leu234Phe) c.312G>C (p.Leu104Phe) | gnomAD v4 |
| 8 | g.18400705G>T | CA370636448 | NAT2 | c.702G>T (p.Leu234Phe) c.312G>T (p.Leu104Phe) | |
| 8 | g.18400706G>A | CA370636449 | NAT2 | c.703G>A (p.Val235Met) c.313G>A (p.Val105Met) | |
| 8 | g.18400706G>C | CA370636450 | NAT2 | c.703G>C (p.Val235Leu) c.313G>C (p.Val105Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400706G= | CA1768219106 | NAT2 | c.703G= (p.Val235=) c.313G= (p.Val105=) | |
| 8 | g.18400706G>T | CA370636451 | NAT2 | c.703G>T (p.Val235Leu) c.313G>T (p.Val105Leu) | |
| 8 | g.18400707_18400708del | CA2686326441 | NAT2 | c.704_705del (p.Val235GlyfsTer7) c.314_315del (p.Val105GlyfsTer7) | gnomAD v4 |
| 8 | g.18400706_18400707insCAGGAGA | CA1768219107 | NAT2 | c.703_704insCAGGAGA (p.Val235AlafsTer10) c.313_314insCAGGAGA (p.Val105AlafsTer10) | dbSNP |
| 8 | g.18400707T>A | CA370636452 | NAT2 | c.704T>A (p.Val235Glu) c.314T>A (p.Val105Glu) | |
| 8 | g.18400707T>C | CA370636453 | NAT2 | c.704T>C (p.Val235Ala) c.314T>C (p.Val105Ala) | |
| 8 | g.18400707T>G | CA4651680 | NAT2 | c.704T>G (p.Val235Gly) c.314T>G (p.Val105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400707T= | CA1768219108 | NAT2 | c.704T= (p.Val235=) c.314T= (p.Val105=) | |
| 8 | g.18400708G>A | CA459699332 | NAT2 | c.705G>A (p.Val235=) c.315G>A (p.Val105=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400708G>C | CA459699334 | NAT2 | c.705G>C (p.Val235=) c.315G>C (p.Val105=) | |
| 8 | g.18400708G= | CA1768219109 | NAT2 | c.705G= (p.Val235=) c.315G= (p.Val105=) | |
| 8 | g.18400708G>T | CA459699336 | NAT2 | c.705G>T (p.Val235=) c.315G>T (p.Val105=) | |
| 8 | g.18400709G>A | CA4651681 | NAT2 | c.706G>A (p.Gly236Ser) c.316G>A (p.Gly106Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400709G>C | CA173519936 | NAT2 | c.706G>C (p.Gly236Arg) c.316G>C (p.Gly106Arg) | ClinVar dbSNP |
| 8 | g.18400709G= | CA1768219110 | NAT2 | c.706G= (p.Gly236=) c.316G= (p.Gly106=) | |
| 8 | g.18400709G>T | CA370636454 | NAT2 | c.706G>T (p.Gly236Cys) c.316G>T (p.Gly106Cys) | |
| 8 | g.18400710G>A | CA4651682 | NAT2 | c.707G>A (p.Gly236Asp) c.317G>A (p.Gly106Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400710G>C | CA370636456 | NAT2 | c.707G>C (p.Gly236Ala) c.317G>C (p.Gly106Ala) | dbSNP |
| 8 | g.18400710G= | CA1768219111 | NAT2 | c.707G= (p.Gly236=) c.317G= (p.Gly106=) | |
| 8 | g.18400710G>T | CA370636455 | NAT2 | c.707G>T (p.Gly236Val) c.317G>T (p.Gly106Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400710_18400711insAATTAAGAAATTCTTTGTTTGTAATATA | CA1768219112 | NAT2 | c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA (p.Phe237IlefsTer15) c.317_318insAATTAAGAAATTCTTTGTTTGTAATATA (p.Phe107IlefsTer15) | dbSNP |
| 8 | g.18400711C>A | CA459699349 | NAT2 | c.708C>A (p.Gly236=) c.318C>A (p.Gly106=) | |
| 8 | g.18400711C>G | CA459699351 | NAT2 | c.708C>G (p.Gly236=) c.318C>G (p.Gly106=) | |
| 8 | g.18400711C>T | CA459699352 | NAT2 | c.708C>T (p.Gly236=) c.318C>T (p.Gly106=) | |
| 8 | g.18400712T>A | CA370636457 | NAT2 | c.709T>A (p.Phe237Ile) c.319T>A (p.Phe107Ile) | |
| 8 | g.18400712T>C | CA173519937 | NAT2 | c.709T>C (p.Phe237Leu) c.319T>C (p.Phe107Leu) | dbSNP |
| 8 | g.18400712T>G | CA370636458 | NAT2 | c.709T>G (p.Phe237Val) c.319T>G (p.Phe107Val) | |
| 8 | g.18400712T= | CA1768219113 | NAT2 | c.709T= (p.Phe237=) c.319T= (p.Phe107=) | |
| 8 | g.18400713T>A | CA370636459 | NAT2 | c.710T>A (p.Phe237Tyr) c.320T>A (p.Phe107Tyr) | |
| 8 | g.18400713T>C | CA370636460 | NAT2 | c.710T>C (p.Phe237Ser) c.320T>C (p.Phe107Ser) | |
| 8 | g.18400713T>G | CA370636461 | NAT2 | c.710T>G (p.Phe237Cys) c.320T>G (p.Phe107Cys) | gnomAD v4 |
| 8 | g.18400713_18400714delinsTC | CA1768219114 | NAT2 | c.710_711delinsTC (p.Phe237=) c.320_321delinsTC (p.Phe107=) | |
| 8 | g.18400714del | CA1768219115 | NAT2 | c.711del (p.Phe237LeufsTer?) c.321del (p.Phe107LeufsTer?) | dbSNP |
| 8 | g.18400714C>A | CA370636462 | NAT2 | c.711C>A (p.Phe237Leu) c.321C>A (p.Phe107Leu) | |
| 8 | g.18400714C>G | CA370636463 | NAT2 | c.711C>G (p.Phe237Leu) c.321C>G (p.Phe107Leu) | |
| 8 | g.18400714C>T | CA459699365 | NAT2 | c.711C>T (p.Phe237=) c.321C>T (p.Phe107=) | |
| 8 | g.18400715A= | CA1768219116 | NAT2 | c.712A= (p.Ile238=) c.322A= (p.Ile108=) | |
| 8 | g.18400715A>C | CA4651683 | NAT2 | c.712A>C (p.Ile238Leu) c.322A>C (p.Ile108Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400715A>G | CA370636464 | NAT2 | c.712A>G (p.Ile238Val) c.322A>G (p.Ile108Val) | gnomAD v4 |
| 8 | g.18400715A>T | CA370636465 | NAT2 | c.712A>T (p.Ile238Phe) c.322A>T (p.Ile108Phe) | gnomAD v4 |
| 8 | g.18400716T>A | CA370636466 | NAT2 | c.713T>A (p.Ile238Asn) c.323T>A (p.Ile108Asn) | |
| 8 | g.18400716T>C | CA370636467 | NAT2 | c.713T>C (p.Ile238Thr) c.323T>C (p.Ile108Thr) | |
| 8 | g.18400716T>G | CA370636468 | NAT2 | c.713T>G (p.Ile238Ser) c.323T>G (p.Ile108Ser) | |
| 8 | g.18400717C>A | CA459699375 | NAT2 | c.714C>A (p.Ile238=) c.324C>A (p.Ile108=) | |
| 8 | g.18400717C>G | CA370636469 | NAT2 | c.714C>G (p.Ile238Met) c.324C>G (p.Ile108Met) | |
| 8 | g.18400717C>T | CA459699378 | NAT2 | c.714C>T (p.Ile238=) c.324C>T (p.Ile108=) | COSMIC |
| 8 | g.18400718C>A | CA370636470 | NAT2 | c.715C>A (p.Leu239Ile) c.325C>A (p.Leu109Ile) | |
| 8 | g.18400718C>G | CA370636472 | NAT2 | c.715C>G (p.Leu239Val) c.325C>G (p.Leu109Val) | |
| 8 | g.18400718C>T | CA370636471 | NAT2 | c.715C>T (p.Leu239Phe) c.325C>T (p.Leu109Phe) | |
| 8 | g.18400719T>A | CA370636473 | NAT2 | c.716T>A (p.Leu239His) c.326T>A (p.Leu109His) | |
| 8 | g.18400719T>C | CA370636474 | NAT2 | c.716T>C (p.Leu239Pro) c.326T>C (p.Leu109Pro) | |
| 8 | g.18400719T>G | CA370636475 | NAT2 | c.716T>G (p.Leu239Arg) c.326T>G (p.Leu109Arg) | |
| 8 | g.18400720C>A | CA459699394 | NAT2 | c.717C>A (p.Leu239=) c.327C>A (p.Leu109=) | |
| 8 | g.18400720C= | CA1768219117 | NAT2 | c.717C= (p.Leu239=) c.327C= (p.Leu109=) | |
| 8 | g.18400720C>G | CA459699392 | NAT2 | c.717C>G (p.Leu239=) c.327C>G (p.Leu109=) | |
| 8 | g.18400720C>T | CA4651684 | NAT2 | c.717C>T (p.Leu239=) c.327C>T (p.Leu109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400721A>C | CA370636476 | NAT2 | c.718A>C (p.Thr240Pro) c.328A>C (p.Thr110Pro) | |
| 8 | g.18400721A>G | CA370636477 | NAT2 | c.718A>G (p.Thr240Ala) c.328A>G (p.Thr110Ala) | gnomAD v4 |
| 8 | g.18400721A>T | CA370636478 | NAT2 | c.718A>T (p.Thr240Ser) c.328A>T (p.Thr110Ser) | |
| 8 | g.18400722C>A | CA173519938 | NAT2 | c.719C>A (p.Thr240Asn) c.329C>A (p.Thr110Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400722C= | CA1768219118 | NAT2 | c.719C= (p.Thr240=) c.329C= (p.Thr110=) | |
| 8 | g.18400722C>G | CA370636479 | NAT2 | c.719C>G (p.Thr240Ser) c.329C>G (p.Thr110Ser) | |
| 8 | g.18400722C>T | CA370636480 | NAT2 | c.719C>T (p.Thr240Ile) c.329C>T (p.Thr110Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400723C>A | CA459699405 | NAT2 | c.720C>A (p.Thr240=) c.330C>A (p.Thr110=) | |
| 8 | g.18400723C>G | CA459699410 | NAT2 | c.720C>G (p.Thr240=) c.330C>G (p.Thr110=) | |
| 8 | g.18400723C>T | CA459699411 | NAT2 | c.720C>T (p.Thr240=) c.330C>T (p.Thr110=) | |
| 8 | g.18400724T>A | CA370636482 | NAT2 | c.721T>A (p.Tyr241Asn) c.331T>A (p.Tyr111Asn) | |
| 8 | g.18400724T>C | CA370636483 | NAT2 | c.721T>C (p.Tyr241His) c.331T>C (p.Tyr111His) | |
| 8 | g.18400724T>G | CA370636481 | NAT2 | c.721T>G (p.Tyr241Asp) c.331T>G (p.Tyr111Asp) | |
| 8 | g.18400725A>C | CA370636484 | NAT2 | c.722A>C (p.Tyr241Ser) c.332A>C (p.Tyr111Ser) | |
| 8 | g.18400725A>G | CA370636485 | NAT2 | c.722A>G (p.Tyr241Cys) c.332A>G (p.Tyr111Cys) | gnomAD v4 |
| 8 | g.18400725A>T | CA370636486 | NAT2 | c.722A>T (p.Tyr241Phe) c.332A>T (p.Tyr111Phe) | |
| 8 | g.18400726T>A | CA370636487 | NAT2 | c.723T>A (p.Tyr241Ter) c.333T>A (p.Tyr111Ter) | |
| 8 | g.18400726T>C | CA459699428 | NAT2 | c.723T>C (p.Tyr241=) c.333T>C (p.Tyr111=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400726T>G | CA370636488 | NAT2 | c.723T>G (p.Tyr241Ter) c.333T>G (p.Tyr111Ter) | |
| 8 | g.18400726T= | CA1768219119 | NAT2 | c.723T= (p.Tyr241=) c.333T= (p.Tyr111=) | |
| 8 | g.18400727A>C | CA459699431 | NAT2 | c.724A>C (p.Arg242=) c.334A>C (p.Arg112=) | |
| 8 | g.18400727A>G | CA370636489 | NAT2 | c.724A>G (p.Arg242Gly) c.334A>G (p.Arg112Gly) | |
| 8 | g.18400727A>T | CA370636490 | NAT2 | c.724A>T (p.Arg242Ter) c.334A>T (p.Arg112Ter) | |
| 8 | g.18400728G>A | CA370636491 | NAT2 | c.725G>A (p.Arg242Lys) c.335G>A (p.Arg112Lys) | |
| 8 | g.18400728G>C | CA370636492 | NAT2 | c.725G>C (p.Arg242Thr) c.335G>C (p.Arg112Thr) | gnomAD v4 |
| 8 | g.18400728G>T | CA370636493 | NAT2 | c.725G>T (p.Arg242Ile) c.335G>T (p.Arg112Ile) | COSMIC |
| 8 | g.18400729A>C | CA370636494 | NAT2 | c.726A>C (p.Arg242Ser) c.336A>C (p.Arg112Ser) | |
| 8 | g.18400729A>G | CA459699440 | NAT2 | c.726A>G (p.Arg242=) c.336A>G (p.Arg112=) | |
| 8 | g.18400729A>T | CA370636495 | NAT2 | c.726A>T (p.Arg242Ser) c.336A>T (p.Arg112Ser) | |
| 8 | g.18400730A>C | CA370636497 | NAT2 | c.727A>C (p.Lys243Gln) c.337A>C (p.Lys113Gln) | |
| 8 | g.18400730A>G | CA370636498 | NAT2 | c.727A>G (p.Lys243Glu) c.337A>G (p.Lys113Glu) | |
| 8 | g.18400730A>T | CA370636496 | NAT2 | c.727A>T (p.Lys243Ter) c.337A>T (p.Lys113Ter) | |
| 8 | g.18400731A>C | CA370636499 | NAT2 | c.728A>C (p.Lys243Thr) c.338A>C (p.Lys113Thr) | |
| 8 | g.18400731A>G | CA370636500 | NAT2 | c.728A>G (p.Lys243Arg) c.338A>G (p.Lys113Arg) | |
| 8 | g.18400731A>T | CA370636501 | NAT2 | c.728A>T (p.Lys243Ile) c.338A>T (p.Lys113Ile) | |
| 8 | g.18400732A= | CA1768219120 | NAT2 | c.729A= (p.Lys243=) c.339A= (p.Lys113=) | |
| 8 | g.18400732A>C | CA370636502 | NAT2 | c.729A>C (p.Lys243Asn) c.339A>C (p.Lys113Asn) | |
| 8 | g.18400732A>G | CA459699448 | NAT2 | c.729A>G (p.Lys243=) c.339A>G (p.Lys113=) | |
| 8 | g.18400732A>T | CA370636503 | NAT2 | c.729A>T (p.Lys243Asn) c.339A>T (p.Lys113Asn) | dbSNP |
| 8 | g.18400733T>A | CA370636506 | NAT2 | c.730T>A (p.Phe244Ile) c.340T>A (p.Phe114Ile) | |
| 8 | g.18400733T>C | CA370636504 | NAT2 | c.730T>C (p.Phe244Leu) c.340T>C (p.Phe114Leu) | COSMIC |
| 8 | g.18400733T>G | CA370636505 | NAT2 | c.730T>G (p.Phe244Val) c.340T>G (p.Phe114Val) | |
| 8 | g.18400734T>A | CA173519939 | NAT2 | c.731T>A (p.Phe244Tyr) c.341T>A (p.Phe114Tyr) | dbSNP |
| 8 | g.18400734T>C | CA370636507 | NAT2 | c.731T>C (p.Phe244Ser) c.341T>C (p.Phe114Ser) | |
| 8 | g.18400734T>G | CA370636508 | NAT2 | c.731T>G (p.Phe244Cys) c.341T>G (p.Phe114Cys) | |
| 8 | g.18400734T= | CA1768219121 | NAT2 | c.731T= (p.Phe244=) c.341T= (p.Phe114=) | |
| 8 | g.18400735C>A | CA370636509 | NAT2 | c.732C>A (p.Phe244Leu) c.342C>A (p.Phe114Leu) | |
| 8 | g.18400735C>G | CA370636510 | NAT2 | c.732C>G (p.Phe244Leu) c.342C>G (p.Phe114Leu) | COSMIC |
| 8 | g.18400735C>T | CA459699467 | NAT2 | c.732C>T (p.Phe244=) c.342C>T (p.Phe114=) | COSMIC |
| 8 | g.18400736A>C | CA370636511 | NAT2 | c.733A>C (p.Asn245His) c.343A>C (p.Asn115His) | |
| 8 | g.18400736A>G | CA370636513 | NAT2 | c.733A>G (p.Asn245Asp) c.343A>G (p.Asn115Asp) | |
| 8 | g.18400736A>T | CA370636512 | NAT2 | c.733A>T (p.Asn245Tyr) c.343A>T (p.Asn115Tyr) | |
| 8 | g.18400736_18400741delinsAATTAT | CA1768219122 | NAT2 | c.733_738delinsAATTAT (p.Asn245=) c.343_348delinsAATTAT (p.Asn115=) | |
| 8 | g.18400737A= | CA1768219123 | NAT2 | c.734A= (p.Asn245=) c.344A= (p.Asn115=) | |
| 8 | g.18400737A>C | CA370636514 | NAT2 | c.734A>C (p.Asn245Thr) c.344A>C (p.Asn115Thr) | |
| 8 | g.18400737A>G | CA4651685 | NAT2 | c.734A>G (p.Asn245Ser) c.344A>G (p.Asn115Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400737A>T | CA370636515 | NAT2 | c.734A>T (p.Asn245Ile) c.344A>T (p.Asn115Ile) | |
| 8 | g.18400738_18400742del | CA580502474 | NAT2 | c.735_739del (p.Asn245LysfsTer10) c.345_349del (p.Asn115LysfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400738T>A | CA370636516 | NAT2 | c.735T>A (p.Asn245Lys) c.345T>A (p.Asn115Lys) | |
| 8 | g.18400738T>C | CA4651686 | NAT2 | c.735T>C (p.Asn245=) c.345T>C (p.Asn115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400738T>G | CA370636517 | NAT2 | c.735T>G (p.Asn245Lys) c.345T>G (p.Asn115Lys) | |
| 8 | g.18400738T= | CA1768219124 | NAT2 | c.735T= (p.Asn245=) c.345T= (p.Asn115=) | |
| 8 | g.18400739T>A | CA370636518 | NAT2 | c.736T>A (p.Tyr246Asn) c.346T>A (p.Tyr116Asn) | dbSNP |
| 8 | g.18400739T>C | CA370636519 | NAT2 | c.736T>C (p.Tyr246His) c.346T>C (p.Tyr116His) | |
| 8 | g.18400739T>G | CA370636520 | NAT2 | c.736T>G (p.Tyr246Asp) c.346T>G (p.Tyr116Asp) | |
| 8 | g.18400739T= | CA1768219125 | NAT2 | c.736T= (p.Tyr246=) c.346T= (p.Tyr116=) | |
| 8 | g.18400740A= | CA1768219126 | NAT2 | c.737A= (p.Tyr246=) c.347A= (p.Tyr116=) | |
| 8 | g.18400740A>C | CA370636521 | NAT2 | c.737A>C (p.Tyr246Ser) c.347A>C (p.Tyr116Ser) | |
| 8 | g.18400740A>G | CA4651687 | NAT2 | c.737A>G (p.Tyr246Cys) c.347A>G (p.Tyr116Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400740A>T | CA370636522 | NAT2 | c.737A>T (p.Tyr246Phe) c.347A>T (p.Tyr116Phe) | |
| 8 | g.18400741T>A | CA370636523 | NAT2 | c.738T>A (p.Tyr246Ter) c.348T>A (p.Tyr116Ter) | |
| 8 | g.18400741T>C | CA459699496 | NAT2 | c.738T>C (p.Tyr246=) c.348T>C (p.Tyr116=) | |
| 8 | g.18400741T>G | CA370636524 | NAT2 | c.738T>G (p.Tyr246Ter) c.348T>G (p.Tyr116Ter) | |
| 8 | g.18400742A= | CA1768219127 | NAT2 | c.739A= (p.Lys247=) c.349A= (p.Lys117=) | |
| 8 | g.18400742A>C | CA370636527 | NAT2 | c.739A>C (p.Lys247Gln) c.349A>C (p.Lys117Gln) | |
| 8 | g.18400742A>G | CA370636526 | NAT2 | c.739A>G (p.Lys247Glu) c.349A>G (p.Lys117Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400742A>T | CA370636525 | NAT2 | c.739A>T (p.Lys247Ter) c.349A>T (p.Lys117Ter) | |
| 8 | g.18400743A>C | CA370636528 | NAT2 | c.740A>C (p.Lys247Thr) c.350A>C (p.Lys117Thr) | |
| 8 | g.18400743A>G | CA370636529 | NAT2 | c.740A>G (p.Lys247Arg) c.350A>G (p.Lys117Arg) | gnomAD v4 |
| 8 | g.18400743A>T | CA370636530 | NAT2 | c.740A>T (p.Lys247Ile) c.350A>T (p.Lys117Ile) | |
| 8 | g.18400744A>C | CA370636531 | NAT2 | c.741A>C (p.Lys247Asn) c.351A>C (p.Lys117Asn) | |
| 8 | g.18400744A>G | CA459699513 | NAT2 | c.741A>G (p.Lys247=) c.351A>G (p.Lys117=) | |
| 8 | g.18400744A>T | CA370636532 | NAT2 | c.741A>T (p.Lys247Asn) c.351A>T (p.Lys117Asn) | |
| 8 | g.18400745G>A | CA4651688 | NAT2 | c.742G>A (p.Asp248Asn) c.352G>A (p.Asp118Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400745G>C | CA370636533 | NAT2 | c.742G>C (p.Asp248His) c.352G>C (p.Asp118His) | |
| 8 | g.18400745G= | CA1768219128 | NAT2 | c.742G= (p.Asp248=) c.352G= (p.Asp118=) | |
| 8 | g.18400745G>T | CA370636534 | NAT2 | c.742G>T (p.Asp248Tyr) c.352G>T (p.Asp118Tyr) | |
| 8 | g.18400746A>C | CA370636535 | NAT2 | c.743A>C (p.Asp248Ala) c.353A>C (p.Asp118Ala) | |
| 8 | g.18400746A>G | CA370636536 | NAT2 | c.743A>G (p.Asp248Gly) c.353A>G (p.Asp118Gly) | gnomAD v4 |
| 8 | g.18400746A>T | CA370636537 | NAT2 | c.743A>T (p.Asp248Val) c.353A>T (p.Asp118Val) | |
| 8 | g.18400747C>A | CA370636538 | NAT2 | c.744C>A (p.Asp248Glu) c.354C>A (p.Asp118Glu) | |
| 8 | g.18400747C>G | CA370636539 | NAT2 | c.744C>G (p.Asp248Glu) c.354C>G (p.Asp118Glu) | |
| 8 | g.18400747C>T | CA459699529 | NAT2 | c.744C>T (p.Asp248=) c.354C>T (p.Asp118=) | |
| 8 | g.18400748A= | CA1768219129 | NAT2 | c.745A= (p.Asn249=) c.355A= (p.Asn119=) | |
| 8 | g.18400748A>C | CA4651689 | NAT2 | c.745A>C (p.Asn249His) c.355A>C (p.Asn119His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400748A>G | CA370636541 | NAT2 | c.745A>G (p.Asn249Asp) c.355A>G (p.Asn119Asp) | |
| 8 | g.18400748A>T | CA370636540 | NAT2 | c.745A>T (p.Asn249Tyr) c.355A>T (p.Asn119Tyr) | gnomAD v4 |
| 8 | g.18400749A= | CA1768219130 | NAT2 | c.746A= (p.Asn249=) c.356A= (p.Asn119=) | |
| 8 | g.18400749A>C | CA370636543 | NAT2 | c.746A>C (p.Asn249Thr) c.356A>C (p.Asn119Thr) | |
| 8 | g.18400749A>G | CA173519940 | NAT2 | c.746A>G (p.Asn249Ser) c.356A>G (p.Asn119Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400749A>T | CA370636542 | NAT2 | c.746A>T (p.Asn249Ile) c.356A>T (p.Asn119Ile) | |
| 8 | g.18400750T>A | CA370636544 | NAT2 | c.747T>A (p.Asn249Lys) c.357T>A (p.Asn119Lys) | |
| 8 | g.18400750T>C | CA459699544 | NAT2 | c.747T>C (p.Asn249=) c.357T>C (p.Asn119=) | |
| 8 | g.18400750T>G | CA370636545 | NAT2 | c.747T>G (p.Asn249Lys) c.357T>G (p.Asn119Lys) | |
| 8 | g.18400751A= | CA1768219131 | NAT2 | c.748A= (p.Thr250=) c.358A= (p.Thr120=) | |
| 8 | g.18400751A>C | CA370636546 | NAT2 | c.748A>C (p.Thr250Pro) c.358A>C (p.Thr120Pro) | |
| 8 | g.18400751A>G | CA370636547 | NAT2 | c.748A>G (p.Thr250Ala) c.358A>G (p.Thr120Ala) | gnomAD v4 |
| 8 | g.18400751A>T | CA370636548 | NAT2 | c.748A>T (p.Thr250Ser) c.358A>T (p.Thr120Ser) | dbSNP |
| 8 | g.18400752C>A | CA173519941 | NAT2 | c.749C>A (p.Thr250Lys) c.359C>A (p.Thr120Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400752C= | CA1768219132 | NAT2 | c.749C= (p.Thr250=) c.359C= (p.Thr120=) | |
| 8 | g.18400752C>G | CA370636549 | NAT2 | c.749C>G (p.Thr250Arg) c.359C>G (p.Thr120Arg) | |
| 8 | g.18400752C>T | CA370636550 | NAT2 | c.749C>T (p.Thr250Ile) c.359C>T (p.Thr120Ile) | |
| 8 | g.18400753A>C | CA459699559 | NAT2 | c.750A>C (p.Thr250=) c.360A>C (p.Thr120=) | |
| 8 | g.18400753A>G | CA459699563 | NAT2 | c.750A>G (p.Thr250=) c.360A>G (p.Thr120=) | gnomAD v4 |
| 8 | g.18400753A>T | CA459699560 | NAT2 | c.750A>T (p.Thr250=) c.360A>T (p.Thr120=) | |
| 8 | g.18400754G>A | CA4651690 | NAT2 | c.751G>A (p.Asp251Asn) c.361G>A (p.Asp121Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400754G>C | CA370636551 | NAT2 | c.751G>C (p.Asp251His) c.361G>C (p.Asp121His) | |
| 8 | g.18400754G= | CA1768219133 | NAT2 | c.751G= (p.Asp251=) c.361G= (p.Asp121=) | |
| 8 | g.18400754G>T | CA370636552 | NAT2 | c.751G>T (p.Asp251Tyr) c.361G>T (p.Asp121Tyr) | gnomAD v4 |
| 8 | g.18400755A>C | CA370636554 | NAT2 | c.752A>C (p.Asp251Ala) c.362A>C (p.Asp121Ala) | |
| 8 | g.18400755A>G | CA370636555 | NAT2 | c.752A>G (p.Asp251Gly) c.362A>G (p.Asp121Gly) | gnomAD v4 |
| 8 | g.18400755A>T | CA370636553 | NAT2 | c.752A>T (p.Asp251Val) c.362A>T (p.Asp121Val) | |
| 8 | g.18400756T>A | CA370636556 | NAT2 | c.753T>A (p.Asp251Glu) c.363T>A (p.Asp121Glu) | |
| 8 | g.18400756T>C | CA459699578 | NAT2 | c.753T>C (p.Asp251=) c.363T>C (p.Asp121=) | |
| 8 | g.18400756T>G | CA370636557 | NAT2 | c.753T>G (p.Asp251Glu) c.363T>G (p.Asp121Glu) | gnomAD v4 |
| 8 | g.18400757C>A | CA370636558 | NAT2 | c.754C>A (p.Leu252Met) c.364C>A (p.Leu122Met) | |
| 8 | g.18400757C>G | CA370636559 | NAT2 | c.754C>G (p.Leu252Val) c.364C>G (p.Leu122Val) | |
| 8 | g.18400757C>T | CA459699584 | NAT2 | c.754C>T (p.Leu252=) c.364C>T (p.Leu122=) | |
| 8 | g.18400758T>A | CA370636562 | NAT2 | c.755T>A (p.Leu252Gln) c.365T>A (p.Leu122Gln) | |
| 8 | g.18400758T>C | CA370636561 | NAT2 | c.755T>C (p.Leu252Pro) c.365T>C (p.Leu122Pro) | |
| 8 | g.18400758T>G | CA370636560 | NAT2 | c.755T>G (p.Leu252Arg) c.365T>G (p.Leu122Arg) | |
| 8 | g.18400759G>A | CA459699594 | NAT2 | c.756G>A (p.Leu252=) c.366G>A (p.Leu122=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400759G>C | CA459699596 | NAT2 | c.756G>C (p.Leu252=) c.366G>C (p.Leu122=) | |
| 8 | g.18400759G= | CA1768219134 | NAT2 | c.756G= (p.Leu252=) c.366G= (p.Leu122=) | |
| 8 | g.18400759G>T | CA459699598 | NAT2 | c.756G>T (p.Leu252=) c.366G>T (p.Leu122=) | gnomAD v4 |
| 8 | g.18400760G>A | CA370636563 | NAT2 | c.757G>A (p.Val253Ile) c.367G>A (p.Val123Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400760G>C | CA370636564 | NAT2 | c.757G>C (p.Val253Leu) c.367G>C (p.Val123Leu) | |
| 8 | g.18400760G= | CA1768219135 | NAT2 | c.757G= (p.Val253=) c.367G= (p.Val123=) | |
| 8 | g.18400760G>T | CA370636565 | NAT2 | c.757G>T (p.Val253Phe) c.367G>T (p.Val123Phe) | dbSNP gnomAD v4 |
| 8 | g.18400761T>A | CA370636566 | NAT2 | c.758T>A (p.Val253Asp) c.368T>A (p.Val123Asp) | |
| 8 | g.18400761T>C | CA4651691 | NAT2 | c.758T>C (p.Val253Ala) c.368T>C (p.Val123Ala) | dbSNP ExAC gnomAD v2 |
| 8 | g.18400761T>G | CA370636567 | NAT2 | c.758T>G (p.Val253Gly) c.368T>G (p.Val123Gly) | |
| 8 | g.18400761T= | CA1768219136 | NAT2 | c.758T= (p.Val253=) c.368T= (p.Val123=) | |
| 8 | g.18400762C>A | CA459699616 | NAT2 | c.759C>A (p.Val253=) c.369C>A (p.Val123=) | |
| 8 | g.18400762C= | CA1768219137 | NAT2 | c.759C= (p.Val253=) c.369C= (p.Val123=) | |
| 8 | g.18400762C>G | CA459699612 | NAT2 | c.759C>G (p.Val253=) c.369C>G (p.Val123=) | |
| 8 | g.18400762C>T | CA4651692 | NAT2 | c.759C>T (p.Val253=) c.369C>T (p.Val123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400763G>A | CA4651693 | NAT2 | c.760G>A (p.Glu254Lys) c.370G>A (p.Glu124Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.18400763G>C | CA370636569 | NAT2 | c.760G>C (p.Glu254Gln) c.370G>C (p.Glu124Gln) | dbSNP |
| 8 | g.18400763G= | CA1768219138 | NAT2 | c.760G= (p.Glu254=) c.370G= (p.Glu124=) | |
| 8 | g.18400763G>T | CA370636568 | NAT2 | c.760G>T (p.Glu254Ter) c.370G>T (p.Glu124Ter) | gnomAD v4 COSMIC |
| 8 | g.18400764A>C | CA370636570 | NAT2 | c.761A>C (p.Glu254Ala) c.371A>C (p.Glu124Ala) | |
| 8 | g.18400764A>G | CA370636572 | NAT2 | c.761A>G (p.Glu254Gly) c.371A>G (p.Glu124Gly) | gnomAD v4 |
| 8 | g.18400764A>T | CA370636571 | NAT2 | c.761A>T (p.Glu254Val) c.371A>T (p.Glu124Val) | |
| 8 | g.18400765G>A | CA173519942 | NAT2 | c.762G>A (p.Glu254=) c.372G>A (p.Glu124=) | dbSNP |
| 8 | g.18400765G>C | CA370636573 | NAT2 | c.762G>C (p.Glu254Asp) c.372G>C (p.Glu124Asp) | |
| 8 | g.18400765G= | CA1768219139 | NAT2 | c.762G= (p.Glu254=) c.372G= (p.Glu124=) | |
| 8 | g.18400765G>T | CA370636574 | NAT2 | c.762G>T (p.Glu254Asp) c.372G>T (p.Glu124Asp) | |
| 8 | g.18400765dup | CA2539107248 | NAT2 | c.762dup (p.Phe255ValfsTer2) c.372dup (p.Phe125ValfsTer2) | |
| 8 | g.18400766T>A | CA370636575 | NAT2 | c.763T>A (p.Phe255Ile) c.373T>A (p.Phe125Ile) | |
| 8 | g.18400766T>C | CA370636576 | NAT2 | c.763T>C (p.Phe255Leu) c.373T>C (p.Phe125Leu) | |
| 8 | g.18400766T>G | CA370636577 | NAT2 | c.763T>G (p.Phe255Val) c.373T>G (p.Phe125Val) | |
| 8 | g.18400767T>A | CA370636578 | NAT2 | c.764T>A (p.Phe255Tyr) c.374T>A (p.Phe125Tyr) | |
| 8 | g.18400767T>C | CA370636579 | NAT2 | c.764T>C (p.Phe255Ser) c.374T>C (p.Phe125Ser) | |
| 8 | g.18400767T>G | CA370636580 | NAT2 | c.764T>G (p.Phe255Cys) c.374T>G (p.Phe125Cys) | |
| 8 | g.18400767_18400768insCAAGCGTAAA | CA2550720478 | NAT2 | c.764_765insCAAGCGTAAA (p.Thr257ArgfsTer3) c.374_375insCAAGCGTAAA (p.Thr127ArgfsTer3) | |
| 8 | g.18400768T>A | CA370636581 | NAT2 | c.765T>A (p.Phe255Leu) c.375T>A (p.Phe125Leu) | |
| 8 | g.18400768T>C | CA459699646 | NAT2 | c.765T>C (p.Phe255=) c.375T>C (p.Phe125=) | |
| 8 | g.18400768T>G | CA370636582 | NAT2 | c.765T>G (p.Phe255Leu) c.375T>G (p.Phe125Leu) | gnomAD v3 gnomAD v4 |
| 8 | g.18400769A= | CA1768219140 | NAT2 | c.766A= (p.Lys256=) c.376A= (p.Lys126=) | |
| 8 | g.18400769A>C | CA370636584 | NAT2 | c.766A>C (p.Lys256Gln) c.376A>C (p.Lys126Gln) | |
| 8 | g.18400769A>G | CA4651694 | NAT2 | c.766A>G (p.Lys256Glu) c.376A>G (p.Lys126Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400769A>T | CA370636583 | NAT2 | c.766A>T (p.Lys256Ter) c.376A>T (p.Lys126Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400770A>C | CA370636585 | NAT2 | c.767A>C (p.Lys256Thr) c.377A>C (p.Lys126Thr) | |
| 8 | g.18400770A>G | CA370636586 | NAT2 | c.767A>G (p.Lys256Arg) c.377A>G (p.Lys126Arg) | gnomAD v4 |
| 8 | g.18400770A>T | CA370636587 | NAT2 | c.767A>T (p.Lys256Ile) c.377A>T (p.Lys126Ile) | |
| 8 | g.18400771A>C | CA370636588 | NAT2 | c.768A>C (p.Lys256Asn) c.378A>C (p.Lys126Asn) | gnomAD v4 |
| 8 | g.18400771A>G | CA459699661 | NAT2 | c.768A>G (p.Lys256=) c.378A>G (p.Lys126=) | |
| 8 | g.18400771A>T | CA370636589 | NAT2 | c.768A>T (p.Lys256Asn) c.378A>T (p.Lys126Asn) | |
| 8 | g.18400772A= | CA1768219141 | NAT2 | c.769A= (p.Thr257=) c.379A= (p.Thr127=) | |
| 8 | g.18400772A>C | CA370636590 | NAT2 | c.769A>C (p.Thr257Pro) c.379A>C (p.Thr127Pro) | |
| 8 | g.18400772A>G | CA4651696 | NAT2 | c.769A>G (p.Thr257Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400772A>T | CA4651695 | NAT2 | c.769A>T (p.Thr257Ser) c.379A>T (p.Thr127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400772_18400774delinsACT | CA1768219142 | NAT2 | c.769_771delinsACT (p.Thr257=) c.379_381delinsACT (p.Thr127=) | |
| 8 | g.18400773C>A | CA370636591 | NAT2 | c.770C>A (p.Thr257Asn) c.380C>A (p.Thr127Asn) | |
| 8 | g.18400773C= | CA1768219143 | NAT2 | c.770C= (p.Thr257=) c.380C= (p.Thr127=) | |
| 8 | g.18400773C>G | CA4651697 | NAT2 | c.770C>G (p.Thr257Ser) c.380C>G (p.Thr127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400773C>T | CA370636592 | NAT2 | c.770C>T (p.Thr257Ile) c.380C>T (p.Thr127Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400776_18400777del | CA580502475 | NAT2 | c.773_774del (p.Leu258HisfsTer2) c.383_384del (p.Leu128HisfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400774T>A | CA459699679 | NAT2 | c.771T>A (p.Thr257=) c.381T>A (p.Thr127=) | |
| 8 | g.18400774T>C | CA459699680 | NAT2 | c.771T>C (p.Thr257=) c.381T>C (p.Thr127=) | |
| 8 | g.18400774T>G | CA459699683 | NAT2 | c.771T>G (p.Thr257=) c.381T>G (p.Thr127=) | |
| 8 | g.18400775C>A | CA370636594 | NAT2 | c.772C>A (p.Leu258Ile) c.382C>A (p.Leu128Ile) | |
| 8 | g.18400775C= | CA1768219144 | NAT2 | c.772C= (p.Leu258=) c.382C= (p.Leu128=) | |
| 8 | g.18400775C>G | CA4651698 | NAT2 | c.772C>G (p.Leu258Val) c.382C>G (p.Leu128Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.18400775C>T | CA370636593 | NAT2 | c.772C>T (p.Leu258Phe) c.382C>T (p.Leu128Phe) | |
| 8 | g.18400776T>A | CA370636595 | NAT2 | c.773T>A (p.Leu258His) c.383T>A (p.Leu128His) | |
| 8 | g.18400776T>C | CA370636596 | NAT2 | c.773T>C (p.Leu258Pro) c.383T>C (p.Leu128Pro) | gnomAD v4 |
| 8 | g.18400776T>G | CA370636597 | NAT2 | c.773T>G (p.Leu258Arg) c.383T>G (p.Leu128Arg) | |
| 8 | g.18400777C>A | CA173519943 | NAT2 | c.774C>A (p.Leu258=) c.384C>A (p.Leu128=) | dbSNP gnomAD v4 |
| 8 | g.18400777C= | CA1768219145 | NAT2 | c.774C= (p.Leu258=) c.384C= (p.Leu128=) | |
| 8 | g.18400777C>G | CA459699695 | NAT2 | c.774C>G (p.Leu258=) c.384C>G (p.Leu128=) | dbSNP |
| 8 | g.18400777C>T | CA459699698 | NAT2 | c.774C>T (p.Leu258=) c.384C>T (p.Leu128=) | |
| 8 | g.18400778A= | CA1768219146 | NAT2 | c.775A= (p.Thr259=) c.385A= (p.Thr129=) | |
| 8 | g.18400778A>C | CA370636598 | NAT2 | c.775A>C (p.Thr259Pro) c.385A>C (p.Thr129Pro) | gnomAD v4 |
| 8 | g.18400778A>G | CA370636599 | NAT2 | c.775A>G (p.Thr259Ala) c.385A>G (p.Thr129Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.18400778A>T | CA370636600 | NAT2 | c.775A>T (p.Thr259Ser) c.385A>T (p.Thr129Ser) | |
| 8 | g.18400779C>A | CA370636601 | NAT2 | c.776C>A (p.Thr259Asn) c.386C>A (p.Thr129Asn) | dbSNP |
| 8 | g.18400779C= | CA1768219147 | NAT2 | c.776C= (p.Thr259=) c.386C= (p.Thr129=) | |
| 8 | g.18400779C>G | CA370636602 | NAT2 | c.776C>G (p.Thr259Ser) c.386C>G (p.Thr129Ser) | |
| 8 | g.18400779C>T | CA370636603 | NAT2 | c.776C>T (p.Thr259Ile) c.386C>T (p.Thr129Ile) | dbSNP gnomAD v4 |