SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |