Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18222544_18222546delinsCCC | CA173180403 | NAT1 | c.497_499delinsCCC (p.Arg166_Glu167delinsThrGln) c.683_685delinsCCC (p.Arg228_Glu229delinsThrGln) n.849_851delinsCCC | dbSNP |
8 | g.18222544_18222546delinsGGG | CA1768101206 | NAT1 | c.497_499delinsGGG (p.Arg166=) c.683_685delinsGGG (p.Arg228=) n.849_851delinsGGG | |
8 | g.18222545G>A | CA4651425 | NAT1 | c.498G>A (p.Arg166=) c.684G>A (p.Arg228=) n.850G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222545G>C | CA370445431 | NAT1 | c.498G>C (p.Arg166Ser) c.684G>C (p.Arg228Ser) n.850G>C | |
8 | g.18222545G= | CA1768101207 | NAT1 | c.498G= (p.Arg166=) c.684G= (p.Arg228=) n.850G= | |
8 | g.18222545G>T | CA370445432 | NAT1 | c.498G>T (p.Arg166Ser) c.684G>T (p.Arg228Ser) n.850G>T | |
8 | g.18222546G>A | CA370445433 | NAT1 | c.499G>A (p.Glu167Lys) c.685G>A (p.Glu229Lys) n.851G>A | dbSNP gnomAD v4 |
8 | g.18222546G>C | CA370445434 | NAT1 | c.499G>C (p.Glu167Gln) c.685G>C (p.Glu229Gln) n.851G>C | |
8 | g.18222546G= | CA1768101208 | NAT1 | c.499G= (p.Glu167=) c.685G= (p.Glu229=) n.851G= | |
8 | g.18222546G>T | CA370445435 | NAT1 | c.499G>T (p.Glu167Ter) c.685G>T (p.Glu229Ter) n.851G>T | |
8 | g.18222547A>C | CA370445436 | NAT1 | c.500A>C (p.Glu167Ala) c.686A>C (p.Glu229Ala) n.852A>C | |
8 | g.18222547A>G | CA370445438 | NAT1 | c.500A>G (p.Glu167Gly) c.686A>G (p.Glu229Gly) n.852A>G | |
8 | g.18222547A>T | CA370445437 | NAT1 | c.500A>T (p.Glu167Val) c.686A>T (p.Glu229Val) n.852A>T | |
8 | g.18222548A= | CA1768101209 | NAT1 | c.501A= (p.Glu167=) c.687A= (p.Glu229=) n.853A= | |
8 | g.18222548A>C | CA370445439 | NAT1 | c.501A>C (p.Glu167Asp) c.687A>C (p.Glu229Asp) n.853A>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222548A>G | CA459877620 | NAT1 | c.501A>G (p.Glu167=) c.687A>G (p.Glu229=) n.853A>G | |
8 | g.18222548A>T | CA370445440 | NAT1 | c.501A>T (p.Glu167Asp) c.687A>T (p.Glu229Asp) n.853A>T | |
8 | g.18222549C>A | CA370445441 | NAT1 | c.502C>A (p.Gln168Lys) c.688C>A (p.Gln230Lys) n.854C>A | |
8 | g.18222549C>G | CA370445442 | NAT1 | c.502C>G (p.Gln168Glu) c.688C>G (p.Gln230Glu) n.854C>G | |
8 | g.18222549C>T | CA370445443 | NAT1 | c.502C>T (p.Gln168Ter) c.688C>T (p.Gln230Ter) n.854C>T | gnomAD v4 |
8 | g.18222550A>C | CA370445444 | NAT1 | c.503A>C (p.Gln168Pro) c.689A>C (p.Gln230Pro) n.855A>C | COSMIC COSMIC |
8 | g.18222550A>G | CA370445445 | NAT1 | c.503A>G (p.Gln168Arg) c.689A>G (p.Gln230Arg) n.855A>G | |
8 | g.18222550A>T | CA370445446 | NAT1 | c.503A>T (p.Gln168Leu) c.689A>T (p.Gln230Leu) n.855A>T | |
8 | g.18222551G>A | CA459877622 | NAT1 | c.504G>A (p.Gln168=) c.690G>A (p.Gln230=) n.856G>A | gnomAD v4 |
8 | g.18222551G>C | CA370445447 | NAT1 | c.504G>C (p.Gln168His) c.690G>C (p.Gln230His) n.856G>C | gnomAD v4 |
8 | g.18222551G= | CA1768101210 | NAT1 | c.504G= (p.Gln168=) c.690G= (p.Gln230=) n.856G= | |
8 | g.18222551G>T | CA4651426 | NAT1 | c.504G>T (p.Gln168His) c.690G>T (p.Gln230His) n.856G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222552T>A | CA370445450 | NAT1 | c.505T>A (p.Tyr169Asn) c.691T>A (p.Tyr231Asn) n.857T>A | ClinVar |
8 | g.18222552T>C | CA370445449 | NAT1 | c.505T>C (p.Tyr169His) c.691T>C (p.Tyr231His) n.857T>C | |
8 | g.18222552T>G | CA370445448 | NAT1 | c.505T>G (p.Tyr169Asp) c.691T>G (p.Tyr231Asp) n.857T>G | |
8 | g.18222553A= | CA1768101211 | NAT1 | c.506A= (p.Tyr169=) c.692A= (p.Tyr231=) n.858A= | |
8 | g.18222553A>C | CA370445451 | NAT1 | c.506A>C (p.Tyr169Ser) c.692A>C (p.Tyr231Ser) n.858A>C | |
8 | g.18222553A>G | CA4651427 | NAT1 | c.506A>G (p.Tyr169Cys) c.692A>G (p.Tyr231Cys) n.858A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222553A>T | CA370445452 | NAT1 | c.506A>T (p.Tyr169Phe) c.692A>T (p.Tyr231Phe) n.858A>T | |
8 | g.18222554C>A | CA370445453 | NAT1 | c.507C>A (p.Tyr169Ter) c.693C>A (p.Tyr231Ter) n.859C>A | gnomAD v4 |
8 | g.18222554C= | CA1768101212 | NAT1 | c.507C= (p.Tyr169=) c.693C= (p.Tyr231=) n.859C= | |
8 | g.18222554C>G | CA370445454 | NAT1 | c.507C>G (p.Tyr169Ter) c.693C>G (p.Tyr231Ter) n.859C>G | |
8 | g.18222554C>T | CA4651428 | NAT1 | c.507C>T (p.Tyr169=) c.693C>T (p.Tyr231=) n.859C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222555A>C | CA370445455 | NAT1 | c.508A>C (p.Ile170Leu) c.694A>C (p.Ile232Leu) n.860A>C | gnomAD v4 |
8 | g.18222555A>G | CA370445456 | NAT1 | c.508A>G (p.Ile170Val) c.694A>G (p.Ile232Val) n.860A>G | |
8 | g.18222555A>T | CA370445457 | NAT1 | c.508A>T (p.Ile170Phe) c.694A>T (p.Ile232Phe) n.860A>T | |
8 | g.18222556T>A | CA370445458 | NAT1 | c.509T>A (p.Ile170Asn) c.695T>A (p.Ile232Asn) n.861T>A | gnomAD v4 |
8 | g.18222556T>C | CA370445459 | NAT1 | c.509T>C (p.Ile170Thr) c.695T>C (p.Ile232Thr) n.861T>C | |
8 | g.18222556T>G | CA370445460 | NAT1 | c.509T>G (p.Ile170Ser) c.695T>G (p.Ile232Ser) n.861T>G | |
8 | g.18222557T>A | CA459877625 | NAT1 | c.510T>A (p.Ile170=) c.696T>A (p.Ile232=) n.862T>A | |
8 | g.18222557T>C | CA459877626 | NAT1 | c.510T>C (p.Ile170=) c.696T>C (p.Ile232=) n.862T>C | |
8 | g.18222557T>G | CA370445461 | NAT1 | c.510T>G (p.Ile170Met) c.696T>G (p.Ile232Met) n.862T>G | |
8 | g.18222558C>A | CA370445464 | NAT1 | c.511C>A (p.Pro171Thr) c.697C>A (p.Pro233Thr) n.863C>A | |
8 | g.18222558C>G | CA370445462 | NAT1 | c.511C>G (p.Pro171Ala) c.697C>G (p.Pro233Ala) n.863C>G | |
8 | g.18222558C>T | CA370445463 | NAT1 | c.511C>T (p.Pro171Ser) c.697C>T (p.Pro233Ser) n.863C>T | |
8 | g.18222559C>A | CA370445465 | NAT1 | c.512C>A (p.Pro171Gln) c.698C>A (p.Pro233Gln) n.864C>A | |
8 | g.18222559C= | CA1768101213 | NAT1 | c.512C= (p.Pro171=) c.698C= (p.Pro233=) n.864C= | |
8 | g.18222559C>G | CA370445466 | NAT1 | c.512C>G (p.Pro171Arg) c.698C>G (p.Pro233Arg) n.864C>G | |
8 | g.18222559C>T | CA370445467 | NAT1 | c.512C>T (p.Pro171Leu) c.698C>T (p.Pro233Leu) n.864C>T | dbSNP gnomAD v4 |
8 | g.18222560A>C | CA459877628 | NAT1 | c.513A>C (p.Pro171=) c.699A>C (p.Pro233=) n.865A>C | |
8 | g.18222560A>G | CA459877630 | NAT1 | c.513A>G (p.Pro171=) c.699A>G (p.Pro233=) n.865A>G | |
8 | g.18222560A>T | CA459877629 | NAT1 | c.513A>T (p.Pro171=) c.699A>T (p.Pro233=) n.865A>T | |
8 | g.18222561A>C | CA370445468 | NAT1 | c.514A>C (p.Asn172His) c.700A>C (p.Asn234His) n.866A>C | |
8 | g.18222561A>G | CA370445469 | NAT1 | c.514A>G (p.Asn172Asp) c.700A>G (p.Asn234Asp) n.866A>G | |
8 | g.18222561A>T | CA370445470 | NAT1 | c.514A>T (p.Asn172Tyr) c.700A>T (p.Asn234Tyr) n.866A>T | |
8 | g.18222562A>C | CA370445471 | NAT1 | c.515A>C (p.Asn172Thr) c.701A>C (p.Asn234Thr) n.867A>C | |
8 | g.18222562A>G | CA370445472 | NAT1 | c.515A>G (p.Asn172Ser) c.701A>G (p.Asn234Ser) n.867A>G | |
8 | g.18222562A>T | CA370445473 | NAT1 | c.515A>T (p.Asn172Ile) c.701A>T (p.Asn234Ile) n.867A>T | |
8 | g.18222563T>A | CA370445474 | NAT1 | c.516T>A (p.Asn172Lys) c.702T>A (p.Asn234Lys) n.868T>A | |
8 | g.18222563T>C | CA459877632 | NAT1 | c.516T>C (p.Asn172=) c.702T>C (p.Asn234=) n.868T>C | |
8 | g.18222563T>G | CA370445475 | NAT1 | c.516T>G (p.Asn172Lys) c.702T>G (p.Asn234Lys) n.868T>G | |
8 | g.18222564G>A | CA370445478 | NAT1 | c.517G>A (p.Glu173Lys) c.703G>A (p.Glu235Lys) n.869G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222564G>C | CA370445477 | NAT1 | c.517G>C (p.Glu173Gln) c.703G>C (p.Glu235Gln) n.869G>C | |
8 | g.18222564G= | CA1768101214 | NAT1 | c.517G= (p.Glu173=) c.703G= (p.Glu235=) n.869G= | |
8 | g.18222564G>T | CA370445476 | NAT1 | c.517G>T (p.Glu173Ter) c.703G>T (p.Glu235Ter) n.869G>T | |
8 | g.18222567_18222569del | CA2686324951 | NAT1 | c.520_522del (p.Glu174del) c.706_708del (p.Glu236del) n.872_874del | gnomAD v4 |
8 | g.18222565A>C | CA370445479 | NAT1 | c.518A>C (p.Glu173Ala) c.704A>C (p.Glu235Ala) n.870A>C | |
8 | g.18222565A>G | CA370445481 | NAT1 | c.518A>G (p.Glu173Gly) c.704A>G (p.Glu235Gly) n.870A>G | gnomAD v4 |
8 | g.18222565A>T | CA370445480 | NAT1 | c.518A>T (p.Glu173Val) c.704A>T (p.Glu235Val) n.870A>T | |
8 | g.18222566A>C | CA370445482 | NAT1 | c.519A>C (p.Glu173Asp) c.705A>C (p.Glu235Asp) n.871A>C | |
8 | g.18222566A>G | CA459877634 | NAT1 | c.519A>G (p.Glu173=) c.705A>G (p.Glu235=) n.871A>G | |
8 | g.18222566A>T | CA370445483 | NAT1 | c.519A>T (p.Glu173Asp) c.705A>T (p.Glu235Asp) n.871A>T | |
8 | g.18222567G>A | CA4651430 | NAT1 | c.520G>A (p.Glu174Lys) c.706G>A (p.Glu236Lys) n.872G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222567G>C | CA370445484 | NAT1 | c.520G>C (p.Glu174Gln) c.706G>C (p.Glu236Gln) n.872G>C | |
8 | g.18222567G= | CA1768101215 | NAT1 | c.520G= (p.Glu174=) c.706G= (p.Glu236=) n.872G= | |
8 | g.18222567G>T | CA4651429 | NAT1 | c.520G>T (p.Glu174Ter) c.706G>T (p.Glu236Ter) n.872G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222568A= | CA1768101216 | NAT1 | c.521A= (p.Glu174=) c.707A= (p.Glu236=) n.873A= | |
8 | g.18222568A>C | CA370445485 | NAT1 | c.521A>C (p.Glu174Ala) c.707A>C (p.Glu236Ala) n.873A>C | |
8 | g.18222568A>G | CA370445486 | NAT1 | c.521A>G (p.Glu174Gly) c.707A>G (p.Glu236Gly) n.873A>G | dbSNP gnomAD v4 |
8 | g.18222568A>T | CA370445487 | NAT1 | c.521A>T (p.Glu174Val) c.707A>T (p.Glu236Val) n.873A>T | |
8 | g.18222569A>C | CA370445488 | NAT1 | c.522A>C (p.Glu174Asp) c.708A>C (p.Glu236Asp) n.874A>C | |
8 | g.18222569A>G | CA459877637 | NAT1 | c.522A>G (p.Glu174=) c.708A>G (p.Glu236=) n.874A>G | |
8 | g.18222569A>T | CA370445489 | NAT1 | c.522A>T (p.Glu174Asp) c.708A>T (p.Glu236Asp) n.874A>T | |
8 | g.18222570T>A | CA370445490 | NAT1 | c.523T>A (p.Phe175Ile) c.709T>A (p.Phe237Ile) n.875T>A | |
8 | g.18222570T>C | CA4651431 | NAT1 | c.523T>C (p.Phe175Leu) c.709T>C (p.Phe237Leu) n.875T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222570T>G | CA370445491 | NAT1 | c.523T>G (p.Phe175Val) c.709T>G (p.Phe237Val) n.875T>G | |
8 | g.18222570T= | CA1768101217 | NAT1 | c.523T= (p.Phe175=) c.709T= (p.Phe237=) n.875T= | |
8 | g.18222571T>A | CA370445494 | NAT1 | c.524T>A (p.Phe175Tyr) c.710T>A (p.Phe237Tyr) n.876T>A | |
8 | g.18222571T>C | CA370445492 | NAT1 | c.524T>C (p.Phe175Ser) c.710T>C (p.Phe237Ser) n.876T>C | |
8 | g.18222571T>G | CA370445493 | NAT1 | c.524T>G (p.Phe175Cys) c.710T>G (p.Phe237Cys) n.876T>G | |
8 | g.18222572T>A | CA370445495 | NAT1 | c.525T>A (p.Phe175Leu) c.711T>A (p.Phe237Leu) n.877T>A | |
8 | g.18222572T>C | CA459877639 | NAT1 | c.525T>C (p.Phe175=) c.711T>C (p.Phe237=) n.877T>C | |
8 | g.18222572T>G | CA370445496 | NAT1 | c.525T>G (p.Phe175Leu) c.711T>G (p.Phe237Leu) n.877T>G | |
8 | g.18222573C>A | CA370445497 | NAT1 | c.526C>A (p.Leu176Ile) c.712C>A (p.Leu238Ile) n.878C>A | dbSNP gnomAD v4 |
8 | g.18222573C= | CA1768101218 | NAT1 | c.526C= (p.Leu176=) c.712C= (p.Leu238=) n.878C= | |
8 | g.18222573C>G | CA370445498 | NAT1 | c.526C>G (p.Leu176Val) c.712C>G (p.Leu238Val) n.878C>G | |
8 | g.18222573C>T | CA4651432 | NAT1 | c.526C>T (p.Leu176Phe) c.712C>T (p.Leu238Phe) n.878C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222574T>A | CA370445499 | NAT1 | c.527T>A (p.Leu176His) c.713T>A (p.Leu238His) n.879T>A | |
8 | g.18222574T>C | CA370445500 | NAT1 | c.527T>C (p.Leu176Pro) c.713T>C (p.Leu238Pro) n.879T>C | |
8 | g.18222574T>G | CA370445501 | NAT1 | c.527T>G (p.Leu176Arg) c.713T>G (p.Leu238Arg) n.879T>G | |
8 | g.18222575T>A | CA459877641 | NAT1 | c.528T>A (p.Leu176=) c.714T>A (p.Leu238=) n.880T>A | |
8 | g.18222575T>C | CA459877642 | NAT1 | c.528T>C (p.Leu176=) c.714T>C (p.Leu238=) n.880T>C | |
8 | g.18222575T>G | CA459877643 | NAT1 | c.528T>G (p.Leu176=) c.714T>G (p.Leu238=) n.880T>G | |
8 | g.18222576C>A | CA370445502 | NAT1 | c.529C>A (p.His177Asn) c.715C>A (p.His239Asn) n.881C>A | |
8 | g.18222576C>G | CA370445503 | NAT1 | c.529C>G (p.His177Asp) c.715C>G (p.His239Asp) n.881C>G | |
8 | g.18222576C>T | CA370445504 | NAT1 | c.529C>T (p.His177Tyr) c.715C>T (p.His239Tyr) n.881C>T | |
8 | g.18222577A= | CA1768101219 | NAT1 | c.530A= (p.His177=) c.716A= (p.His239=) n.882A= | |
8 | g.18222577A>C | CA370445505 | NAT1 | c.530A>C (p.His177Pro) c.716A>C (p.His239Pro) n.882A>C | gnomAD v4 |
8 | g.18222577A>G | CA370445506 | NAT1 | c.530A>G (p.His177Arg) c.716A>G (p.His239Arg) n.882A>G | |
8 | g.18222577A>T | CA4651433 | NAT1 | c.530A>T (p.His177Leu) c.716A>T (p.His239Leu) n.882A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222578T>A | CA370445507 | NAT1 | c.531T>A (p.His177Gln) c.717T>A (p.His239Gln) n.883T>A | |
8 | g.18222578T>C | CA459877648 | NAT1 | c.531T>C (p.His177=) c.717T>C (p.His239=) n.883T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222578T>G | CA370445508 | NAT1 | c.531T>G (p.His177Gln) c.717T>G (p.His239Gln) n.883T>G | |
8 | g.18222578T= | CA1768101220 | NAT1 | c.531T= (p.His177=) c.717T= (p.His239=) n.883T= | |
8 | g.18222579T>A | CA370445509 | NAT1 | c.532T>A (p.Ser178Thr) c.718T>A (p.Ser240Thr) n.884T>A | dbSNP |
8 | g.18222579T>C | CA370445510 | NAT1 | c.532T>C (p.Ser178Pro) c.718T>C (p.Ser240Pro) n.884T>C | |
8 | g.18222579T>G | CA370445511 | NAT1 | c.532T>G (p.Ser178Ala) c.718T>G (p.Ser240Ala) n.884T>G | |
8 | g.18222579T= | CA1768101221 | NAT1 | c.532T= (p.Ser178=) c.718T= (p.Ser240=) n.884T= | |
8 | g.18222580del | CA2779248142 | NAT1 | c.533del (p.Ser178LeufsTer4) c.719del (p.Ser240LeufsTer4) n.885del | |
8 | g.18222580C>A | CA370445512 | NAT1 | c.533C>A (p.Ser178Tyr) c.719C>A (p.Ser240Tyr) n.885C>A | |
8 | g.18222580C>G | CA370445513 | NAT1 | c.533C>G (p.Ser178Cys) c.719C>G (p.Ser240Cys) n.885C>G | |
8 | g.18222580C>T | CA370445514 | NAT1 | c.533C>T (p.Ser178Phe) c.719C>T (p.Ser240Phe) n.885C>T | gnomAD v4 |
8 | g.18222581T>A | CA459877652 | NAT1 | c.534T>A (p.Ser178=) c.720T>A (p.Ser240=) n.886T>A | |
8 | g.18222581T>C | CA173180419 | NAT1 | c.534T>C (p.Ser178=) c.720T>C (p.Ser240=) n.886T>C | dbSNP |
8 | g.18222581T>G | CA459877653 | NAT1 | c.534T>G (p.Ser178=) c.720T>G (p.Ser240=) n.886T>G | |
8 | g.18222581T= | CA1768101222 | NAT1 | c.534T= (p.Ser178=) c.720T= (p.Ser240=) n.886T= | |
8 | g.18222582G>A | CA173180421 | NAT1 | c.535G>A (p.Asp179Asn) c.721G>A (p.Asp241Asn) n.887G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222582G>C | CA370445515 | NAT1 | c.535G>C (p.Asp179His) c.721G>C (p.Asp241His) n.887G>C | gnomAD v4 |
8 | g.18222582G= | CA1768101223 | NAT1 | c.535G= (p.Asp179=) c.721G= (p.Asp241=) n.887G= | |
8 | g.18222582G>T | CA370445516 | NAT1 | c.535G>T (p.Asp179Tyr) c.721G>T (p.Asp241Tyr) n.887G>T | |
8 | g.18222583A= | CA1768101224 | NAT1 | c.536A= (p.Asp179=) c.722A= (p.Asp241=) n.888A= | |
8 | g.18222583A>C | CA370445517 | NAT1 | c.536A>C (p.Asp179Ala) c.722A>C (p.Asp241Ala) n.888A>C | COSMIC COSMIC |
8 | g.18222583A>G | CA370445518 | NAT1 | c.536A>G (p.Asp179Gly) c.722A>G (p.Asp241Gly) n.888A>G | |
8 | g.18222583A>T | CA173180423 | NAT1 | c.536A>T (p.Asp179Val) c.722A>T (p.Asp241Val) n.888A>T | dbSNP gnomAD v4 |
8 | g.18222584T>A | CA173180425 | NAT1 | c.537T>A (p.Asp179Glu) c.723T>A (p.Asp241Glu) n.889T>A | dbSNP gnomAD v4 |
8 | g.18222584T>C | CA459877655 | NAT1 | c.537T>C (p.Asp179=) c.723T>C (p.Asp241=) n.889T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222584T>G | CA370445519 | NAT1 | c.537T>G (p.Asp179Glu) c.723T>G (p.Asp241Glu) n.889T>G | |
8 | g.18222584T= | CA1768101225 | NAT1 | c.537T= (p.Asp179=) c.723T= (p.Asp241=) n.889T= | |
8 | g.18222584_18222587delinsTCTC | CA1768101226 | NAT1 | c.537_540delinsTCTC (p.Asp179=) c.723_726delinsTCTC (p.Asp241=) n.889_892delinsTCTC | |
8 | g.18222585C>A | CA370445520 | NAT1 | c.538C>A (p.Leu180Ile) c.724C>A (p.Leu242Ile) n.890C>A | |
8 | g.18222585C>G | CA370445521 | NAT1 | c.538C>G (p.Leu180Val) c.724C>G (p.Leu242Val) n.890C>G | |
8 | g.18222585C>T | CA370445522 | NAT1 | c.538C>T (p.Leu180Phe) c.724C>T (p.Leu242Phe) n.890C>T | |
8 | g.18222587_18222589del | CA1768101227 | NAT1 | c.540_542del (p.Leu181del) c.726_728del (p.Leu243del) n.892_894del | dbSNP gnomAD v4 |
8 | g.18222586T>A | CA370445525 | NAT1 | c.539T>A (p.Leu180His) c.725T>A (p.Leu242His) n.891T>A | |
8 | g.18222586T>C | CA370445523 | NAT1 | c.539T>C (p.Leu180Pro) c.725T>C (p.Leu242Pro) n.891T>C | gnomAD v4 |
8 | g.18222586T>G | CA370445524 | NAT1 | c.539T>G (p.Leu180Arg) c.725T>G (p.Leu242Arg) n.891T>G | |
8 | g.18222587C>A | CA459877656 | NAT1 | c.540C>A (p.Leu180=) c.726C>A (p.Leu242=) n.892C>A | |
8 | g.18222587C>G | CA459877657 | NAT1 | c.540C>G (p.Leu180=) c.726C>G (p.Leu242=) n.892C>G | |
8 | g.18222587C>T | CA459877658 | NAT1 | c.540C>T (p.Leu180=) c.726C>T (p.Leu242=) n.892C>T | gnomAD v4 |
8 | g.18222588C>A | CA370445526 | NAT1 | c.541C>A (p.Leu181Ile) c.727C>A (p.Leu243Ile) n.893C>A | |
8 | g.18222588C= | CA1768101228 | NAT1 | c.541C= (p.Leu181=) c.727C= (p.Leu243=) n.893C= | |
8 | g.18222588C>G | CA370445527 | NAT1 | c.541C>G (p.Leu181Val) c.727C>G (p.Leu243Val) n.893C>G | dbSNP |
8 | g.18222588C>T | CA459877659 | NAT1 | c.541C>T (p.Leu181=) c.727C>T (p.Leu243=) n.893C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222589T>A | CA370445528 | NAT1 | c.542T>A (p.Leu181Gln) c.728T>A (p.Leu243Gln) n.894T>A | |
8 | g.18222589T>C | CA370445529 | NAT1 | c.542T>C (p.Leu181Pro) c.728T>C (p.Leu243Pro) n.894T>C | dbSNP |
8 | g.18222589T>G | CA370445530 | NAT1 | c.542T>G (p.Leu181Arg) c.728T>G (p.Leu243Arg) n.894T>G | |
8 | g.18222589T= | CA1768101229 | NAT1 | c.542T= (p.Leu181=) c.728T= (p.Leu243=) n.894T= | |
8 | g.18222590A>C | CA459877663 | NAT1 | c.543A>C (p.Leu181=) c.729A>C (p.Leu243=) n.895A>C | |
8 | g.18222590A>G | CA459877664 | NAT1 | c.543A>G (p.Leu181=) c.729A>G (p.Leu243=) n.895A>G | dbSNP gnomAD v4 |
8 | g.18222590A>T | CA459877662 | NAT1 | c.543A>T (p.Leu181=) c.729A>T (p.Leu243=) n.895A>T | |
8 | g.18222591G>A | CA370445533 | NAT1 | c.544G>A (p.Glu182Lys) c.730G>A (p.Glu244Lys) n.896G>A | |
8 | g.18222591G>C | CA370445532 | NAT1 | c.544G>C (p.Glu182Gln) c.730G>C (p.Glu244Gln) n.896G>C | dbSNP |
8 | g.18222591G= | CA1768101230 | NAT1 | c.544G= (p.Glu182=) c.730G= (p.Glu244=) n.896G= | |
8 | g.18222591G>T | CA370445531 | NAT1 | c.544G>T (p.Glu182Ter) c.730G>T (p.Glu244Ter) n.896G>T | |
8 | g.18222592A>C | CA370445535 | NAT1 | c.545A>C (p.Glu182Ala) c.731A>C (p.Glu244Ala) n.897A>C | |
8 | g.18222592A>G | CA370445536 | NAT1 | c.545A>G (p.Glu182Gly) c.731A>G (p.Glu244Gly) n.897A>G | gnomAD v4 |
8 | g.18222592A>T | CA370445534 | NAT1 | c.545A>T (p.Glu182Val) c.731A>T (p.Glu244Val) n.897A>T | |
8 | g.18222593dup | CA4651434 | NAT1 | c.546dup (p.Asp183ArgfsTer13) c.732dup (p.Asp245ArgfsTer13) n.898dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222593A>C | CA370445537 | NAT1 | c.546A>C (p.Glu182Asp) c.732A>C (p.Glu244Asp) n.898A>C | |
8 | g.18222593A>G | CA459877666 | NAT1 | c.546A>G (p.Glu182=) c.732A>G (p.Glu244=) n.898A>G | |
8 | g.18222593A>T | CA370445538 | NAT1 | c.546A>T (p.Glu182Asp) c.732A>T (p.Glu244Asp) n.898A>T | |
8 | g.18222594G>A | CA370445539 | NAT1 | c.547G>A (p.Asp183Asn) c.733G>A (p.Asp245Asn) n.899G>A | gnomAD v4 |
8 | g.18222594G>C | CA370445540 | NAT1 | c.547G>C (p.Asp183His) c.733G>C (p.Asp245His) n.899G>C | dbSNP |
8 | g.18222594G= | CA1768101231 | NAT1 | c.547G= (p.Asp183=) c.733G= (p.Asp245=) n.899G= | |
8 | g.18222594G>T | CA370445541 | NAT1 | c.547G>T (p.Asp183Tyr) c.733G>T (p.Asp245Tyr) n.899G>T | |
8 | g.18222595A>C | CA370445542 | NAT1 | c.548A>C (p.Asp183Ala) c.734A>C (p.Asp245Ala) n.900A>C | |
8 | g.18222595A>G | CA370445543 | NAT1 | c.548A>G (p.Asp183Gly) c.734A>G (p.Asp245Gly) n.900A>G | |
8 | g.18222595A>T | CA370445544 | NAT1 | c.548A>T (p.Asp183Val) c.734A>T (p.Asp245Val) n.900A>T | |
8 | g.18222596C>A | CA370445545 | NAT1 | c.549C>A (p.Asp183Glu) c.735C>A (p.Asp245Glu) n.901C>A | |
8 | g.18222596C= | CA1768101232 | NAT1 | c.549C= (p.Asp183=) c.735C= (p.Asp245=) n.901C= | |
8 | g.18222596C>G | CA370445546 | NAT1 | c.549C>G (p.Asp183Glu) c.735C>G (p.Asp245Glu) n.901C>G | |
8 | g.18222596C>T | CA4651435 | NAT1 | c.549C>T (p.Asp183=) c.735C>T (p.Asp245=) n.901C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222597A= | CA1768101233 | NAT1 | c.550A= (p.Ser184=) c.736A= (p.Ser246=) n.902A= | |
8 | g.18222597A>C | CA370445549 | NAT1 | c.550A>C (p.Ser184Arg) c.736A>C (p.Ser246Arg) n.902A>C | |
8 | g.18222597A>G | CA370445547 | NAT1 | c.550A>G (p.Ser184Gly) c.736A>G (p.Ser246Gly) n.902A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222597A>T | CA370445548 | NAT1 | c.550A>T (p.Ser184Cys) c.736A>T (p.Ser246Cys) n.902A>T | |
8 | g.18222598G>A | CA370445550 | NAT1 | c.551G>A (p.Ser184Asn) c.737G>A (p.Ser246Asn) n.903G>A | gnomAD v4 |
8 | g.18222598G>C | CA370445551 | NAT1 | c.551G>C (p.Ser184Thr) c.737G>C (p.Ser246Thr) n.903G>C | |
8 | g.18222598G>T | CA370445552 | NAT1 | c.551G>T (p.Ser184Ile) c.737G>T (p.Ser246Ile) n.903G>T | |
8 | g.18222599C>A | CA370445553 | NAT1 | c.552C>A (p.Ser184Arg) c.738C>A (p.Ser246Arg) n.904C>A | |
8 | g.18222599C= | CA1768101234 | NAT1 | c.552C= (p.Ser184=) c.738C= (p.Ser246=) n.904C= | |
8 | g.18222599C>G | CA370445554 | NAT1 | c.552C>G (p.Ser184Arg) c.738C>G (p.Ser246Arg) n.904C>G | |
8 | g.18222599C>T | CA4651436 | NAT1 | c.552C>T (p.Ser184=) c.738C>T (p.Ser246=) n.904C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222600A>C | CA370445555 | NAT1 | c.553A>C (p.Lys185Gln) c.739A>C (p.Lys247Gln) n.905A>C | |
8 | g.18222600A>G | CA370445556 | NAT1 | c.553A>G (p.Lys185Glu) c.739A>G (p.Lys247Glu) n.905A>G | gnomAD v4 |
8 | g.18222600A>T | CA370445557 | NAT1 | c.553A>T (p.Lys185Ter) c.739A>T (p.Lys247Ter) n.905A>T | |
8 | g.18222601A>C | CA370445558 | NAT1 | c.554A>C (p.Lys185Thr) c.740A>C (p.Lys247Thr) n.906A>C | |
8 | g.18222601A>G | CA370445559 | NAT1 | c.554A>G (p.Lys185Arg) c.740A>G (p.Lys247Arg) n.906A>G | gnomAD v4 |
8 | g.18222601A>T | CA370445560 | NAT1 | c.554A>T (p.Lys185Ile) c.740A>T (p.Lys247Ile) n.906A>T | |
8 | g.18222602A>C | CA370445561 | NAT1 | c.555A>C (p.Lys185Asn) c.741A>C (p.Lys247Asn) n.907A>C | |
8 | g.18222602A>G | CA459877672 | NAT1 | c.555A>G (p.Lys185=) c.741A>G (p.Lys247=) n.907A>G | |
8 | g.18222602A>T | CA370445562 | NAT1 | c.555A>T (p.Lys185Asn) c.741A>T (p.Lys247Asn) n.907A>T | |
8 | g.18222603T>A | CA370445563 | NAT1 | c.556T>A (p.Tyr186Asn) c.742T>A (p.Tyr248Asn) n.908T>A | |
8 | g.18222603T>C | CA370445564 | NAT1 | c.556T>C (p.Tyr186His) c.742T>C (p.Tyr248His) n.908T>C | gnomAD v4 |
8 | g.18222603T>G | CA370445565 | NAT1 | c.556T>G (p.Tyr186Asp) c.742T>G (p.Tyr248Asp) n.908T>G | |
8 | g.18222604A= | CA1768101236 | NAT1 | c.557A= (p.Tyr186=) c.743A= (p.Tyr248=) n.909A= | |
8 | g.18222604A>C | CA370445566 | NAT1 | c.557A>C (p.Tyr186Ser) c.743A>C (p.Tyr248Ser) n.909A>C | dbSNP |
8 | g.18222604A>G | CA370445567 | NAT1 | c.557A>G (p.Tyr186Cys) c.743A>G (p.Tyr248Cys) n.909A>G | |
8 | g.18222604A>T | CA370445568 | NAT1 | c.557A>T (p.Tyr186Phe) c.743A>T (p.Tyr248Phe) n.909A>T | COSMIC COSMIC |
8 | g.18222604_18222605delinsAC | CA1768101235 | NAT1 | c.557_558delinsAC (p.Tyr186=) c.743_744delinsAC (p.Tyr248=) n.909_910delinsAC | |
8 | g.18222605C>A | CA370445569 | NAT1 | c.558C>A (p.Tyr186Ter) c.744C>A (p.Tyr248Ter) n.910C>A | |
8 | g.18222605C>G | CA370445570 | NAT1 | c.558C>G (p.Tyr186Ter) c.744C>G (p.Tyr248Ter) n.910C>G | |
8 | g.18222605C>T | CA459877675 | NAT1 | c.558C>T (p.Tyr186=) c.744C>T (p.Tyr248=) n.910C>T | |
8 | g.18222606del | CA173180431 | NAT1 | c.559del (p.Arg187GlufsTer19) c.745del (p.Arg249GlufsTer19) n.911del | dbSNP |
8 | g.18222605_18222607delinsCCG | CA1768101237 | NAT1 | c.558_560delinsCCG (p.Tyr186=) c.744_746delinsCCG (p.Tyr248=) n.910_912delinsCCG | |
8 | g.18222606C>A | CA459877676 | NAT1 | c.559C>A (p.Arg187=) c.745C>A (p.Arg249=) n.911C>A | |
8 | g.18222606C= | CA1768101238 | NAT1 | c.559C= (p.Arg187=) c.745C= (p.Arg249=) n.911C= | |
8 | g.18222606C>G | CA370445571 | NAT1 | c.559C>G (p.Arg187Gly) c.745C>G (p.Arg249Gly) n.911C>G | |
8 | g.18222606C>T | CA4651437 | NAT1 | c.559C>T (p.Arg187Ter) c.745C>T (p.Arg249Ter) n.911C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222606_18222607delinsA | CA173180434 | NAT1 | c.559_560delinsA (p.Arg187LysfsTer19) c.745_746delinsA (p.Arg249LysfsTer19) n.911_912delinsA | dbSNP |
8 | g.18222606_18222607delinsT | CA173180433 | NAT1 | c.559_560delinsT (p.Arg187Ter) c.745_746delinsT (p.Arg249Ter) n.911_912delinsT | dbSNP |
8 | g.18222606_18222607delinsCG | CA1768101239 | NAT1 | c.559_560delinsCG (p.Arg187=) c.745_746delinsCG (p.Arg249=) n.911_912delinsCG | |
8 | g.18222607del | CA173180436 | NAT1 | c.560del (p.Arg187GlnfsTer19) c.746del (p.Arg249GlnfsTer19) n.912del | dbSNP |
8 | g.18222607G>A | CA4651438 | NAT1 | c.560G>A (p.Arg187Gln) c.746G>A (p.Arg249Gln) n.912G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222607G>C | CA370445572 | NAT1 | c.560G>C (p.Arg187Pro) c.746G>C (p.Arg249Pro) n.912G>C | |
8 | g.18222607G= | CA1768101240 | NAT1 | c.560G= (p.Arg187=) c.746G= (p.Arg249=) n.912G= | |
8 | g.18222607G>T | CA370445573 | NAT1 | c.560G>T (p.Arg187Leu) c.746G>T (p.Arg249Leu) n.912G>T | gnomAD v4 |
8 | g.18222608A>C | CA459877678 | NAT1 | c.561A>C (p.Arg187=) c.747A>C (p.Arg249=) n.913A>C | |
8 | g.18222608A>G | CA459877679 | NAT1 | c.561A>G (p.Arg187=) c.747A>G (p.Arg249=) n.913A>G | |
8 | g.18222608A>T | CA459877681 | NAT1 | c.561A>T (p.Arg187=) c.747A>T (p.Arg249=) n.913A>T | |
8 | g.18222609A>C | CA370445576 | NAT1 | c.562A>C (p.Lys188Gln) c.748A>C (p.Lys250Gln) n.914A>C | |
8 | g.18222609A>G | CA370445574 | NAT1 | c.562A>G (p.Lys188Glu) c.748A>G (p.Lys250Glu) n.914A>G | |
8 | g.18222609A>T | CA370445575 | NAT1 | c.562A>T (p.Lys188Ter) c.748A>T (p.Lys250Ter) n.914A>T | |
8 | g.18222610A>C | CA370445577 | NAT1 | c.563A>C (p.Lys188Thr) c.749A>C (p.Lys250Thr) n.915A>C | |
8 | g.18222610A>G | CA370445578 | NAT1 | c.563A>G (p.Lys188Arg) c.749A>G (p.Lys250Arg) n.915A>G | |
8 | g.18222610A>T | CA370445579 | NAT1 | c.563A>T (p.Lys188Ile) c.749A>T (p.Lys250Ile) n.915A>T | |
8 | g.18222611A>C | CA370445580 | NAT1 | c.564A>C (p.Lys188Asn) c.750A>C (p.Lys250Asn) n.916A>C | |
8 | g.18222611A>G | CA459877683 | NAT1 | c.564A>G (p.Lys188=) c.750A>G (p.Lys250=) n.916A>G | |
8 | g.18222611A>T | CA370445581 | NAT1 | c.564A>T (p.Lys188Asn) c.750A>T (p.Lys250Asn) n.916A>T | |
8 | g.18222612A>C | CA370445582 | NAT1 | c.565A>C (p.Ile189Leu) c.751A>C (p.Ile251Leu) n.917A>C | |
8 | g.18222612A>G | CA370445583 | NAT1 | c.565A>G (p.Ile189Val) c.751A>G (p.Ile251Val) n.917A>G | |
8 | g.18222612A>T | CA370445584 | NAT1 | c.565A>T (p.Ile189Phe) c.751A>T (p.Ile251Phe) n.917A>T | |
8 | g.18222613T>A | CA370445585 | NAT1 | c.566T>A (p.Ile189Asn) c.752T>A (p.Ile251Asn) n.918T>A | |
8 | g.18222613T>C | CA370445586 | NAT1 | c.566T>C (p.Ile189Thr) c.752T>C (p.Ile251Thr) n.918T>C | gnomAD v4 |
8 | g.18222613T>G | CA370445587 | NAT1 | c.566T>G (p.Ile189Ser) c.752T>G (p.Ile251Ser) n.918T>G | |
8 | g.18222614C>A | CA459877686 | NAT1 | c.567C>A (p.Ile189=) c.753C>A (p.Ile251=) n.919C>A | COSMIC COSMIC |
8 | g.18222614C>G | CA370445588 | NAT1 | c.567C>G (p.Ile189Met) c.753C>G (p.Ile251Met) n.919C>G | |
8 | g.18222614C>T | CA459877684 | NAT1 | c.567C>T (p.Ile189=) c.753C>T (p.Ile251=) n.919C>T | gnomAD v4 |
8 | g.18222615T>A | CA173180438 | NAT1 | c.568T>A (p.Tyr190Asn) c.754T>A (p.Tyr252Asn) n.920T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222615T>C | CA370445590 | NAT1 | c.568T>C (p.Tyr190His) c.754T>C (p.Tyr252His) n.920T>C | COSMIC COSMIC |
8 | g.18222615T>G | CA370445589 | NAT1 | c.568T>G (p.Tyr190Asp) c.754T>G (p.Tyr252Asp) n.920T>G | |
8 | g.18222615T= | CA1768101241 | NAT1 | c.568T= (p.Tyr190=) c.754T= (p.Tyr252=) n.920T= | |
8 | g.18222616A>C | CA370445592 | NAT1 | c.569A>C (p.Tyr190Ser) c.755A>C (p.Tyr252Ser) n.921A>C | |
8 | g.18222616A>G | CA370445591 | NAT1 | c.569A>G (p.Tyr190Cys) c.755A>G (p.Tyr252Cys) n.921A>G | |
8 | g.18222616A>T | CA370445593 | NAT1 | c.569A>T (p.Tyr190Phe) c.755A>T (p.Tyr252Phe) n.921A>T | |
8 | g.18222617C>A | CA370445594 | NAT1 | c.570C>A (p.Tyr190Ter) c.756C>A (p.Tyr252Ter) n.922C>A | |
8 | g.18222617C= | CA1768101242 | NAT1 | c.570C= (p.Tyr190=) c.756C= (p.Tyr252=) n.922C= | |
8 | g.18222617C>G | CA370445595 | NAT1 | c.570C>G (p.Tyr190Ter) c.756C>G (p.Tyr252Ter) n.922C>G | |
8 | g.18222617C>T | CA459877688 | NAT1 | c.570C>T (p.Tyr190=) c.756C>T (p.Tyr252=) n.922C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222618T>A | CA370445596 | NAT1 | c.571T>A (p.Ser191Thr) c.757T>A (p.Ser253Thr) n.923T>A | |
8 | g.18222618T>C | CA370445597 | NAT1 | c.571T>C (p.Ser191Pro) c.757T>C (p.Ser253Pro) n.923T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222618T>G | CA370445598 | NAT1 | c.571T>G (p.Ser191Ala) c.757T>G (p.Ser253Ala) n.923T>G | |
8 | g.18222618T= | CA1768101243 | NAT1 | c.571T= (p.Ser191=) c.757T= (p.Ser253=) n.923T= | |
8 | g.18222619C>A | CA370445599 | NAT1 | c.572C>A (p.Ser191Tyr) c.758C>A (p.Ser253Tyr) n.924C>A | gnomAD v4 |
8 | g.18222619C= | CA1768101244 | NAT1 | c.572C= (p.Ser191=) c.758C= (p.Ser253=) n.924C= | |
8 | g.18222619C>G | CA370445600 | NAT1 | c.572C>G (p.Ser191Cys) c.758C>G (p.Ser253Cys) n.924C>G | |
8 | g.18222619C>T | CA4651439 | NAT1 | c.572C>T (p.Ser191Phe) c.758C>T (p.Ser253Phe) n.924C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222620C>A | CA459877690 | NAT1 | c.573C>A (p.Ser191=) c.759C>A (p.Ser253=) n.925C>A | |
8 | g.18222620C= | CA1768101245 | NAT1 | c.573C= (p.Ser191=) c.759C= (p.Ser253=) n.925C= | |
8 | g.18222620C>G | CA459877691 | NAT1 | c.573C>G (p.Ser191=) c.759C>G (p.Ser253=) n.925C>G | |
8 | g.18222620C>T | CA173180442 | NAT1 | c.573C>T (p.Ser191=) c.759C>T (p.Ser253=) n.925C>T | dbSNP |
8 | g.18222621T>A | CA370445601 | NAT1 | c.574T>A (p.Phe192Ile) c.760T>A (p.Phe254Ile) n.926T>A | |
8 | g.18222621T>C | CA370445602 | NAT1 | c.574T>C (p.Phe192Leu) c.760T>C (p.Phe254Leu) n.926T>C | |
8 | g.18222621T>G | CA370445603 | NAT1 | c.574T>G (p.Phe192Val) c.760T>G (p.Phe254Val) n.926T>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222621T= | CA1768101246 | NAT1 | c.574T= (p.Phe192=) c.760T= (p.Phe254=) n.926T= | |
8 | g.18222622T>A | CA370445604 | NAT1 | c.575T>A (p.Phe192Tyr) c.761T>A (p.Phe254Tyr) n.927T>A | |
8 | g.18222622T>C | CA370445605 | NAT1 | c.575T>C (p.Phe192Ser) c.761T>C (p.Phe254Ser) n.927T>C | |
8 | g.18222622T>G | CA370445606 | NAT1 | c.575T>G (p.Phe192Cys) c.761T>G (p.Phe254Cys) n.927T>G | |
8 | g.18222623T>A | CA370445608 | NAT1 | c.576T>A (p.Phe192Leu) c.762T>A (p.Phe254Leu) n.928T>A | |
8 | g.18222623T>C | CA459877693 | NAT1 | c.576T>C (p.Phe192=) c.762T>C (p.Phe254=) n.928T>C | gnomAD v4 |
8 | g.18222623T>G | CA370445607 | NAT1 | c.576T>G (p.Phe192Leu) c.762T>G (p.Phe254Leu) n.928T>G | |
8 | g.18222624A>C | CA370445609 | NAT1 | c.577A>C (p.Thr193Pro) c.763A>C (p.Thr255Pro) n.929A>C | |
8 | g.18222624A>G | CA370445610 | NAT1 | c.577A>G (p.Thr193Ala) c.763A>G (p.Thr255Ala) n.929A>G | |
8 | g.18222624A>T | CA370445611 | NAT1 | c.577A>T (p.Thr193Ser) c.763A>T (p.Thr255Ser) n.929A>T | |
8 | g.18222624_18222633delinsACTCTTAAGC | CA1768101247 | NAT1 | c.577_586delinsACTCTTAAGC (p.Thr193=) c.763_772delinsACTCTTAAGC (p.Thr255=) n.929_938delinsACTCTTAAGC | |
8 | g.18222625C>A | CA370445612 | NAT1 | c.578C>A (p.Thr193Asn) c.764C>A (p.Thr255Asn) n.930C>A | |
8 | g.18222625C>G | CA370445613 | NAT1 | c.578C>G (p.Thr193Ser) c.764C>G (p.Thr255Ser) n.930C>G | |
8 | g.18222625C>T | CA370445614 | NAT1 | c.578C>T (p.Thr193Ile) c.764C>T (p.Thr255Ile) n.930C>T | |
8 | g.18222628_18222636del | CA580501895 | NAT1 | c.581_589del (p.Leu194_Pro196del) c.767_775del (p.Leu256_Pro258del) n.933_941del | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222626T>A | CA459877698 | NAT1 | c.579T>A (p.Thr193=) c.765T>A (p.Thr255=) n.931T>A | |
8 | g.18222626T>C | CA459877699 | NAT1 | c.579T>C (p.Thr193=) c.765T>C (p.Thr255=) n.931T>C | |
8 | g.18222626T>G | CA459877700 | NAT1 | c.579T>G (p.Thr193=) c.765T>G (p.Thr255=) n.931T>G | |
8 | g.18222627C>A | CA370445615 | NAT1 | c.580C>A (p.Leu194Ile) c.766C>A (p.Leu256Ile) n.932C>A | |
8 | g.18222627C>G | CA370445616 | NAT1 | c.580C>G (p.Leu194Val) c.766C>G (p.Leu256Val) n.932C>G | |
8 | g.18222627C>T | CA370445617 | NAT1 | c.580C>T (p.Leu194Phe) c.766C>T (p.Leu256Phe) n.932C>T | |
8 | g.18222628T>A | CA370445618 | NAT1 | c.581T>A (p.Leu194His) c.767T>A (p.Leu256His) n.933T>A | |
8 | g.18222628T>C | CA370445619 | NAT1 | c.581T>C (p.Leu194Pro) c.767T>C (p.Leu256Pro) n.933T>C | |
8 | g.18222628T>G | CA370445620 | NAT1 | c.581T>G (p.Leu194Arg) c.767T>G (p.Leu256Arg) n.933T>G | |
8 | g.18222629T>A | CA4651440 | NAT1 | c.582T>A (p.Leu194=) c.768T>A (p.Leu256=) n.934T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222629T>C | CA459877703 | NAT1 | c.582T>C (p.Leu194=) c.768T>C (p.Leu256=) n.934T>C | |
8 | g.18222629T>G | CA459877704 | NAT1 | c.582T>G (p.Leu194=) c.768T>G (p.Leu256=) n.934T>G | dbSNP gnomAD v4 |
8 | g.18222629T= | CA1768101248 | NAT1 | c.582T= (p.Leu194=) c.768T= (p.Leu256=) n.934T= | |
8 | g.18222630A= | CA1768101249 | NAT1 | c.583A= (p.Lys195=) c.769A= (p.Lys257=) n.935A= | |
8 | g.18222630A>C | CA370445623 | NAT1 | c.583A>C (p.Lys195Gln) c.769A>C (p.Lys257Gln) n.935A>C | gnomAD v4 |
8 | g.18222630A>G | CA370445622 | NAT1 | c.583A>G (p.Lys195Glu) c.769A>G (p.Lys257Glu) n.935A>G | gnomAD v4 |
8 | g.18222630A>T | CA370445621 | NAT1 | c.583A>T (p.Lys195Ter) c.769A>T (p.Lys257Ter) n.935A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222631A= | CA1768101250 | NAT1 | c.584A= (p.Lys195=) c.770A= (p.Lys257=) n.936A= | |
8 | g.18222631A>C | CA370445626 | NAT1 | c.584A>C (p.Lys195Thr) c.770A>C (p.Lys257Thr) n.936A>C | |
8 | g.18222631A>G | CA370445624 | NAT1 | c.584A>G (p.Lys195Arg) c.770A>G (p.Lys257Arg) n.936A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222631A>T | CA370445625 | NAT1 | c.584A>T (p.Lys195Met) c.770A>T (p.Lys257Met) n.936A>T | |
8 | g.18222632G>A | CA173180445 | NAT1 | c.585G>A (p.Lys195=) c.771G>A (p.Lys257=) n.937G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222632G>C | CA370445627 | NAT1 | c.585G>C (p.Lys195Asn) c.771G>C (p.Lys257Asn) n.937G>C | |
8 | g.18222632G= | CA1768101251 | NAT1 | c.585G= (p.Lys195=) c.771G= (p.Lys257=) n.937G= | |
8 | g.18222632G>T | CA370445628 | NAT1 | c.585G>T (p.Lys195Asn) c.771G>T (p.Lys257Asn) n.937G>T | |
8 | g.18222633C>A | CA370445629 | NAT1 | c.586C>A (p.Pro196Thr) c.772C>A (p.Pro258Thr) n.938C>A | dbSNP |
8 | g.18222633C= | CA1768101252 | NAT1 | c.586C= (p.Pro196=) c.772C= (p.Pro258=) n.938C= | |
8 | g.18222633C>G | CA370445630 | NAT1 | c.586C>G (p.Pro196Ala) c.772C>G (p.Pro258Ala) n.938C>G | |
8 | g.18222633C>T | CA4651441 | NAT1 | c.586C>T (p.Pro196Ser) c.772C>T (p.Pro258Ser) n.938C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222634C>A | CA370445631 | NAT1 | c.587C>A (p.Pro196His) c.773C>A (p.Pro258His) n.939C>A | |
8 | g.18222634C>G | CA370445632 | NAT1 | c.587C>G (p.Pro196Arg) c.773C>G (p.Pro258Arg) n.939C>G | |
8 | g.18222634C>T | CA370445633 | NAT1 | c.587C>T (p.Pro196Leu) c.773C>T (p.Pro258Leu) n.939C>T | |
8 | g.18222635T>A | CA4651442 | NAT1 | c.588T>A (p.Pro196=) c.774T>A (p.Pro258=) n.940T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222635T>C | CA459877711 | NAT1 | c.588T>C (p.Pro196=) c.774T>C (p.Pro258=) n.940T>C | |
8 | g.18222635T>G | CA459877712 | NAT1 | c.588T>G (p.Pro196=) c.774T>G (p.Pro258=) n.940T>G | |
8 | g.18222635T= | CA1768101253 | NAT1 | c.588T= (p.Pro196=) c.774T= (p.Pro258=) n.940T= | |
8 | g.18222636C>A | CA459877714 | NAT1 | c.589C>A (p.Arg197=) c.775C>A (p.Arg259=) n.941C>A | gnomAD v4 |
8 | g.18222636C= | CA1768101254 | NAT1 | c.589C= (p.Arg197=) c.775C= (p.Arg259=) n.941C= | |
8 | g.18222636C>G | CA4651443 | NAT1 | c.589C>G (p.Arg197Gly) c.775C>G (p.Arg259Gly) n.941C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222636C>T | CA4651444 | NAT1 | c.589C>T (p.Arg197Ter) c.775C>T (p.Arg259Ter) n.941C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.18222637G>A | CA173180451 | NAT1 | c.590G>A (p.Arg197Gln) c.776G>A (p.Arg259Gln) n.942G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222637G>C | CA370445634 | NAT1 | c.590G>C (p.Arg197Pro) c.776G>C (p.Arg259Pro) n.942G>C | gnomAD v4 |
8 | g.18222637G= | CA1768101255 | NAT1 | c.590G= (p.Arg197=) c.776G= (p.Arg259=) n.942G= | |
8 | g.18222637G>T | CA370445635 | NAT1 | c.590G>T (p.Arg197Leu) c.776G>T (p.Arg259Leu) n.942G>T | |
8 | g.18222638A= | CA1768101256 | NAT1 | c.591A= (p.Arg197=) c.777A= (p.Arg259=) n.943A= | |
8 | g.18222638A>C | CA459877718 | NAT1 | c.591A>C (p.Arg197=) c.777A>C (p.Arg259=) n.943A>C | dbSNP |
8 | g.18222638A>G | CA459877719 | NAT1 | c.591A>G (p.Arg197=) c.777A>G (p.Arg259=) n.943A>G | gnomAD v4 |
8 | g.18222638A>T | CA459877721 | NAT1 | c.591A>T (p.Arg197=) c.777A>T (p.Arg259=) n.943A>T | |
8 | g.18222639A= | CA1768101257 | NAT1 | c.592A= (p.Thr198=) c.778A= (p.Thr260=) n.944A= | |
8 | g.18222639A>C | CA370445636 | NAT1 | c.592A>C (p.Thr198Pro) c.778A>C (p.Thr260Pro) n.944A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222639A>G | CA370445637 | NAT1 | c.592A>G (p.Thr198Ala) c.778A>G (p.Thr260Ala) n.944A>G | gnomAD v4 |
8 | g.18222639A>T | CA370445638 | NAT1 | c.592A>T (p.Thr198Ser) c.778A>T (p.Thr260Ser) n.944A>T | |
8 | g.18222640C>A | CA370445639 | NAT1 | c.593C>A (p.Thr198Lys) c.779C>A (p.Thr260Lys) n.945C>A | |
8 | g.18222640C>G | CA370445640 | NAT1 | c.593C>G (p.Thr198Arg) c.779C>G (p.Thr260Arg) n.945C>G | |
8 | g.18222640C>T | CA370445641 | NAT1 | c.593C>T (p.Thr198Ile) c.779C>T (p.Thr260Ile) n.945C>T | |
8 | g.18222641A>C | CA459877724 | NAT1 | c.594A>C (p.Thr198=) c.780A>C (p.Thr260=) n.946A>C | |
8 | g.18222641A>G | CA459877725 | NAT1 | c.594A>G (p.Thr198=) c.780A>G (p.Thr260=) n.946A>G | |
8 | g.18222641A>T | CA459877726 | NAT1 | c.594A>T (p.Thr198=) c.780A>T (p.Thr260=) n.946A>T | |
8 | g.18222642A= | CA1768101258 | NAT1 | c.595A= (p.Ile199=) c.781A= (p.Ile261=) n.947A= | |
8 | g.18222642A>C | CA370445642 | NAT1 | c.595A>C (p.Ile199Leu) c.781A>C (p.Ile261Leu) n.947A>C | |
8 | g.18222642A>G | CA4651445 | NAT1 | c.595A>G (p.Ile199Val) c.781A>G (p.Ile261Val) n.947A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222642A>T | CA370445643 | NAT1 | c.595A>T (p.Ile199Phe) c.781A>T (p.Ile261Phe) n.947A>T | |
8 | g.18222643T>A | CA370445644 | NAT1 | c.596T>A (p.Ile199Asn) c.782T>A (p.Ile261Asn) n.948T>A | |
8 | g.18222643T>C | CA4651446 | NAT1 | c.596T>C (p.Ile199Thr) c.782T>C (p.Ile261Thr) n.948T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222643T>G | CA370445645 | NAT1 | c.596T>G (p.Ile199Ser) c.782T>G (p.Ile261Ser) n.948T>G | |
8 | g.18222643T= | CA1768101259 | NAT1 | c.596T= (p.Ile199=) c.782T= (p.Ile261=) n.948T= | |
8 | g.18222644T>A | CA459877729 | NAT1 | c.597T>A (p.Ile199=) c.783T>A (p.Ile261=) n.949T>A | |
8 | g.18222644T>C | CA459877730 | NAT1 | c.597T>C (p.Ile199=) c.783T>C (p.Ile261=) n.949T>C | |
8 | g.18222644T>G | CA370445646 | NAT1 | c.597T>G (p.Ile199Met) c.783T>G (p.Ile261Met) n.949T>G | |
8 | g.18222645G>A | CA370445648 | NAT1 | c.598G>A (p.Glu200Lys) c.784G>A (p.Glu262Lys) n.950G>A | |
8 | g.18222645G>C | CA173180455 | NAT1 | c.598G>C (p.Glu200Gln) c.784G>C (p.Glu262Gln) n.950G>C | dbSNP |
8 | g.18222645G= | CA1768101260 | NAT1 | c.598G= (p.Glu200=) c.784G= (p.Glu262=) n.950G= | |
8 | g.18222645G>T | CA370445647 | NAT1 | c.598G>T (p.Glu200Ter) c.784G>T (p.Glu262Ter) n.950G>T |