Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |