Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.18400718C>T | CA370636471 | NAT2 | c.715C>T (p.Leu239Phe) c.325C>T (p.Leu109Phe) | |
8 | g.18400719T>A | CA370636473 | NAT2 | c.716T>A (p.Leu239His) c.326T>A (p.Leu109His) | |
8 | g.18400719T>C | CA370636474 | NAT2 | c.716T>C (p.Leu239Pro) c.326T>C (p.Leu109Pro) | |
8 | g.18400719T>G | CA370636475 | NAT2 | c.716T>G (p.Leu239Arg) c.326T>G (p.Leu109Arg) | |
8 | g.18400720C>A | CA459699394 | NAT2 | c.717C>A (p.Leu239=) c.327C>A (p.Leu109=) | |
8 | g.18400720C= | CA1768219117 | NAT2 | c.717C= (p.Leu239=) c.327C= (p.Leu109=) | |
8 | g.18400720C>G | CA459699392 | NAT2 | c.717C>G (p.Leu239=) c.327C>G (p.Leu109=) | |
8 | g.18400720C>T | CA4651684 | NAT2 | c.717C>T (p.Leu239=) c.327C>T (p.Leu109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400721A>C | CA370636476 | NAT2 | c.718A>C (p.Thr240Pro) c.328A>C (p.Thr110Pro) | |
8 | g.18400721A>G | CA370636477 | NAT2 | c.718A>G (p.Thr240Ala) c.328A>G (p.Thr110Ala) | gnomAD v4 |
8 | g.18400721A>T | CA370636478 | NAT2 | c.718A>T (p.Thr240Ser) c.328A>T (p.Thr110Ser) | |
8 | g.18400722C>A | CA173519938 | NAT2 | c.719C>A (p.Thr240Asn) c.329C>A (p.Thr110Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400722C= | CA1768219118 | NAT2 | c.719C= (p.Thr240=) c.329C= (p.Thr110=) | |
8 | g.18400722C>G | CA370636479 | NAT2 | c.719C>G (p.Thr240Ser) c.329C>G (p.Thr110Ser) | |
8 | g.18400722C>T | CA370636480 | NAT2 | c.719C>T (p.Thr240Ile) c.329C>T (p.Thr110Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400723C>A | CA459699405 | NAT2 | c.720C>A (p.Thr240=) c.330C>A (p.Thr110=) | |
8 | g.18400723C>G | CA459699410 | NAT2 | c.720C>G (p.Thr240=) c.330C>G (p.Thr110=) | |
8 | g.18400723C>T | CA459699411 | NAT2 | c.720C>T (p.Thr240=) c.330C>T (p.Thr110=) | |
8 | g.18400724T>A | CA370636482 | NAT2 | c.721T>A (p.Tyr241Asn) c.331T>A (p.Tyr111Asn) | |
8 | g.18400724T>C | CA370636483 | NAT2 | c.721T>C (p.Tyr241His) c.331T>C (p.Tyr111His) | |
8 | g.18400724T>G | CA370636481 | NAT2 | c.721T>G (p.Tyr241Asp) c.331T>G (p.Tyr111Asp) | |
8 | g.18400725A>C | CA370636484 | NAT2 | c.722A>C (p.Tyr241Ser) c.332A>C (p.Tyr111Ser) | |
8 | g.18400725A>G | CA370636485 | NAT2 | c.722A>G (p.Tyr241Cys) c.332A>G (p.Tyr111Cys) | gnomAD v4 |
8 | g.18400725A>T | CA370636486 | NAT2 | c.722A>T (p.Tyr241Phe) c.332A>T (p.Tyr111Phe) | |
8 | g.18400726T>A | CA370636487 | NAT2 | c.723T>A (p.Tyr241Ter) c.333T>A (p.Tyr111Ter) | |
8 | g.18400726T>C | CA459699428 | NAT2 | c.723T>C (p.Tyr241=) c.333T>C (p.Tyr111=) | dbSNP gnomAD v3 gnomAD v4 |