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