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 |