Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13135659C>A | CA404325405 | NACC1 | c.452C>A (p.Ser151Ter) | gnomAD v4 |
19 | g.13135659C= | CA2323741556 | NACC1 | c.452C= (p.Ser151=) | |
19 | g.13135659C>G | CA404325406 | NACC1 | c.452C>G (p.Ser151Trp) | |
19 | g.13135659C>T | CA9238274 | NACC1 | c.452C>T (p.Ser151Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135660G>A | CA9238275 | NACC1 | c.453G>A (p.Ser151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135660G>C | CA505783018 | NACC1 | c.453G>C (p.Ser151=) | |
19 | g.13135660G= | CA2323741557 | NACC1 | c.453G= (p.Ser151=) | |
19 | g.13135660G>T | CA505783019 | NACC1 | c.453G>T (p.Ser151=) | gnomAD v4 |
19 | g.13135661G>A | CA404325409 | NACC1 | c.454G>A (p.Gly152Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135661G>C | CA404325407 | NACC1 | c.454G>C (p.Gly152Arg) | ClinVar |
19 | g.13135661G= | CA2323741558 | NACC1 | c.454G= (p.Gly152=) | |
19 | g.13135661G>T | CA404325408 | NACC1 | c.454G>T (p.Gly152Cys) | gnomAD v4 |
19 | g.13135662G>A | CA404325410 | NACC1 | c.455G>A (p.Gly152Asp) | gnomAD v4 |
19 | g.13135662G>C | CA404325411 | NACC1 | c.455G>C (p.Gly152Ala) | gnomAD v4 |
19 | g.13135662G= | CA2323741559 | NACC1 | c.455G= (p.Gly152=) | |
19 | g.13135662G>T | CA9238276 | NACC1 | c.455G>T (p.Gly152Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135663C>A | CA505783025 | NACC1 | c.456C>A (p.Gly152=) | gnomAD v4 |
19 | g.13135663C>G | CA505783029 | NACC1 | c.456C>G (p.Gly152=) | |
19 | g.13135663C>T | CA505783034 | NACC1 | c.456C>T (p.Gly152=) | gnomAD v4 |
19 | g.13135664T>A | CA404325412 | NACC1 | c.457T>A (p.Trp153Arg) | |
19 | g.13135664T>C | CA404325413 | NACC1 | c.457T>C (p.Trp153Arg) | |
19 | g.13135664T>G | CA404325414 | NACC1 | c.457T>G (p.Trp153Gly) | |
19 | g.13135665G>A | CA404325415 | NACC1 | c.458G>A (p.Trp153Ter) | gnomAD v4 |
19 | g.13135665G>C | CA404325416 | NACC1 | c.458G>C (p.Trp153Ser) | |
19 | g.13135665G>T | CA404325417 | NACC1 | c.458G>T (p.Trp153Leu) | gnomAD v4 |
19 | g.13135666G>A | CA404325418 | NACC1 | c.459G>A (p.Trp153Ter) | gnomAD v4 |
19 | g.13135666G>C | CA404325419 | NACC1 | c.459G>C (p.Trp153Cys) | |
19 | g.13135666G>T | CA404325420 | NACC1 | c.459G>T (p.Trp153Cys) | gnomAD v4 |
19 | g.13135667C>A | CA404325422 | NACC1 | c.460C>A (p.Pro154Thr) | gnomAD v4 |
19 | g.13135667C= | CA2323741560 | NACC1 | c.460C= (p.Pro154=) | |
19 | g.13135667C>G | CA404325421 | NACC1 | c.460C>G (p.Pro154Ala) | gnomAD v4 |
19 | g.13135667C>T | CA305552938 | NACC1 | c.460C>T (p.Pro154Ser) | dbSNP gnomAD v4 |
19 | g.13135668del | CA2582801211 | NACC1 | c.461del (p.Pro154GlnfsTer13) c.461del (p.Pro154GlnfsTer?) | gnomAD v4 |
19 | g.13135668C>A | CA404325423 | NACC1 | c.461C>A (p.Pro154Gln) | gnomAD v4 |
19 | g.13135668C>G | CA404325425 | NACC1 | c.461C>G (p.Pro154Arg) | |
19 | g.13135668C>T | CA404325424 | NACC1 | c.461C>T (p.Pro154Leu) | gnomAD v4 |
19 | g.13135669A= | CA2323741561 | NACC1 | c.462A= (p.Pro154=) | |
19 | g.13135669A>C | CA505782414 | NACC1 | c.462A>C (p.Pro154=) | |
19 | g.13135669A>G | CA505782415 | NACC1 | c.462A>G (p.Pro154=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135669A>T | CA505782416 | NACC1 | c.462A>T (p.Pro154=) | |
19 | g.13135670G>A | CA404325426 | NACC1 | c.463G>A (p.Ala155Thr) | gnomAD v4 |
19 | g.13135670G>C | CA404325427 | NACC1 | c.463G>C (p.Ala155Pro) | |
19 | g.13135670G>T | CA404325428 | NACC1 | c.463G>T (p.Ala155Ser) | gnomAD v4 |
19 | g.13135671C>A | CA404325429 | NACC1 | c.464C>A (p.Ala155Asp) | gnomAD v4 |
19 | g.13135671C= | CA2323741562 | NACC1 | c.464C= (p.Ala155=) | |
19 | g.13135671C>G | CA404325430 | NACC1 | c.464C>G (p.Ala155Gly) | |
19 | g.13135671C>T | CA9238277 | NACC1 | c.464C>T (p.Ala155Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13135672C>A | CA505782420 | NACC1 | c.465C>A (p.Ala155=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135672C= | CA2323741563 | NACC1 | c.465C= (p.Ala155=) | |
19 | g.13135672C>G | CA505782421 | NACC1 | c.465C>G (p.Ala155=) | |
19 | g.13135672C>T | CA505782422 | NACC1 | c.465C>T (p.Ala155=) | |
19 | g.13135673T>A | CA404325431 | NACC1 | c.466T>A (p.Cys156Ser) | |
19 | g.13135673T>C | CA404325432 | NACC1 | c.466T>C (p.Cys156Arg) | |
19 | g.13135673T>G | CA404325433 | NACC1 | c.466T>G (p.Cys156Gly) | |
19 | g.13135674_13135675del | CA2582801212 | NACC1 | c.467_468del (p.Cys156Ter) | gnomAD v4 |
19 | g.13135674G>A | CA404325434 | NACC1 | c.467G>A (p.Cys156Tyr) | dbSNP gnomAD v2 |
19 | g.13135674G>C | CA404325435 | NACC1 | c.467G>C (p.Cys156Ser) | gnomAD v4 |
19 | g.13135674G= | CA2323741564 | NACC1 | c.467G= (p.Cys156=) | |
19 | g.13135674G>T | CA404325436 | NACC1 | c.467G>T (p.Cys156Phe) | |
19 | g.13135675T>A | CA404325438 | NACC1 | c.468T>A (p.Cys156Ter) | |
19 | g.13135675T>C | CA505782427 | NACC1 | c.468T>C (p.Cys156=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135675T>G | CA404325437 | NACC1 | c.468T>G (p.Cys156Trp) | |
19 | g.13135675T= | CA2323741565 | NACC1 | c.468T= (p.Cys156=) | |
19 | g.13135676A>C | CA404325439 | NACC1 | c.469A>C (p.Ser157Arg) | |
19 | g.13135676A>G | CA404325440 | NACC1 | c.469A>G (p.Ser157Gly) | gnomAD v4 |
19 | g.13135676A>T | CA404325441 | NACC1 | c.469A>T (p.Ser157Cys) | |
19 | g.13135677G>A | CA404325442 | NACC1 | c.470G>A (p.Ser157Asn) | |
19 | g.13135677G>C | CA404325443 | NACC1 | c.470G>C (p.Ser157Thr) | |
19 | g.13135677G>T | CA404325444 | NACC1 | c.470G>T (p.Ser157Ile) | gnomAD v4 |
19 | g.13135678C>A | CA404325446 | NACC1 | c.471C>A (p.Ser157Arg) | gnomAD v4 |
19 | g.13135678C>G | CA404325445 | NACC1 | c.471C>G (p.Ser157Arg) | |
19 | g.13135678C>T | CA505782432 | NACC1 | c.471C>T (p.Ser157=) | gnomAD v4 |
19 | g.13135679A>C | CA404325447 | NACC1 | c.472A>C (p.Thr158Pro) | |
19 | g.13135679A>G | CA404325448 | NACC1 | c.472A>G (p.Thr158Ala) | gnomAD v4 |
19 | g.13135679A>T | CA404325449 | NACC1 | c.472A>T (p.Thr158Ser) | |
19 | g.13135680C>A | CA404325450 | NACC1 | c.473C>A (p.Thr158Asn) | gnomAD v4 |
19 | g.13135680C>G | CA404325451 | NACC1 | c.473C>G (p.Thr158Ser) | |
19 | g.13135680C>T | CA404325452 | NACC1 | c.473C>T (p.Thr158Ile) | gnomAD v4 |
19 | g.13135681C>A | CA505782434 | NACC1 | c.474C>A (p.Thr158=) | ClinVar gnomAD v4 |
19 | g.13135681C>G | CA505782435 | NACC1 | c.474C>G (p.Thr158=) | |
19 | g.13135681C>T | CA505782436 | NACC1 | c.474C>T (p.Thr158=) | gnomAD v4 |
19 | g.13135682C>A | CA404325453 | NACC1 | c.475C>A (p.Pro159Thr) | gnomAD v4 |
19 | g.13135682C>G | CA404325455 | NACC1 | c.475C>G (p.Pro159Ala) | gnomAD v4 |
19 | g.13135682C>T | CA404325454 | NACC1 | c.475C>T (p.Pro159Ser) | gnomAD v4 |
19 | g.13135683C>A | CA404325456 | NACC1 | c.476C>A (p.Pro159Gln) | gnomAD v4 |
19 | g.13135683C= | CA2323741566 | NACC1 | c.476C= (p.Pro159=) | |
19 | g.13135683C>G | CA9238278 | NACC1 | c.476C>G (p.Pro159Arg) | dbSNP ExAC gnomAD v2 |
19 | g.13135683C>T | CA404325457 | NACC1 | c.476C>T (p.Pro159Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135684G>A | CA9238279 | NACC1 | c.477G>A (p.Pro159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135684G>C | CA505782439 | NACC1 | c.477G>C (p.Pro159=) | |
19 | g.13135684G= | CA2323741567 | NACC1 | c.477G= (p.Pro159=) | |
19 | g.13135684G>T | CA505782441 | NACC1 | c.477G>T (p.Pro159=) | gnomAD v4 |
19 | g.13135685C>A | CA404325458 | NACC1 | c.478C>A (p.Leu160Met) | |
19 | g.13135685C= | CA2323741568 | NACC1 | c.478C= (p.Leu160=) | |
19 | g.13135685C>G | CA404325459 | NACC1 | c.478C>G (p.Leu160Val) | |
19 | g.13135685C>T | CA305552949 | NACC1 | c.478C>T (p.Leu160=) | dbSNP |
19 | g.13135686T>A | CA404325460 | NACC1 | c.479T>A (p.Leu160Gln) | |
19 | g.13135686T>C | CA404325461 | NACC1 | c.479T>C (p.Leu160Pro) | gnomAD v4 |
19 | g.13135686T>G | CA404325462 | NACC1 | c.479T>G (p.Leu160Arg) | |
19 | g.13135687G>A | CA505782448 | NACC1 | c.480G>A (p.Leu160=) | gnomAD v4 |
19 | g.13135687G>C | CA505782449 | NACC1 | c.480G>C (p.Leu160=) | gnomAD v4 |
19 | g.13135687G>T | CA505782451 | NACC1 | c.480G>T (p.Leu160=) | gnomAD v4 |
19 | g.13135688C>A | CA404325463 | NACC1 | c.481C>A (p.Pro161Thr) | gnomAD v4 |
19 | g.13135688C= | CA2323741569 | NACC1 | c.481C= (p.Pro161=) | |
19 | g.13135688C>G | CA404325464 | NACC1 | c.481C>G (p.Pro161Ala) | |
19 | g.13135688C>T | CA9238280 | NACC1 | c.481C>T (p.Pro161Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135691del | CA2582801213 | NACC1 | c.484del (p.Leu162SerfsTer5) c.484del (p.Leu162SerfsTer?) | gnomAD v4 |
19 | g.13135689C>A | CA404325466 | NACC1 | c.482C>A (p.Pro161His) | gnomAD v4 |
19 | g.13135689C>G | CA404325467 | NACC1 | c.482C>G (p.Pro161Arg) | gnomAD v4 |
19 | g.13135689C>T | CA404325465 | NACC1 | c.482C>T (p.Pro161Leu) | gnomAD v4 |
19 | g.13135690C>A | CA505782452 | NACC1 | c.483C>A (p.Pro161=) | gnomAD v4 |
19 | g.13135690C>G | CA505782453 | NACC1 | c.483C>G (p.Pro161=) | |
19 | g.13135690C>T | CA505782455 | NACC1 | c.483C>T (p.Pro161=) | ClinVar dbSNP |
19 | g.13135691C>A | CA404325468 | NACC1 | c.484C>A (p.Leu162Ile) | gnomAD v4 |
19 | g.13135691C>G | CA404325469 | NACC1 | c.484C>G (p.Leu162Val) | |
19 | g.13135691C>T | CA404325470 | NACC1 | c.484C>T (p.Leu162Phe) | |
19 | g.13135692T>A | CA404325471 | NACC1 | c.485T>A (p.Leu162His) | |
19 | g.13135692T>C | CA404325472 | NACC1 | c.485T>C (p.Leu162Pro) | gnomAD v4 |
19 | g.13135692T>G | CA404325473 | NACC1 | c.485T>G (p.Leu162Arg) | |
19 | g.13135693C>A | CA505782457 | NACC1 | c.486C>A (p.Leu162=) | ClinVar gnomAD v4 |
19 | g.13135693C= | CA2323741570 | NACC1 | c.486C= (p.Leu162=) | |
19 | g.13135693C>G | CA505782458 | NACC1 | c.486C>G (p.Leu162=) | |
19 | g.13135693C>T | CA9238281 | NACC1 | c.486C>T (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135694G>A | CA9238282 | NACC1 | c.487G>A (p.Val163Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135694G>C | CA404325474 | NACC1 | c.487G>C (p.Val163Leu) | |
19 | g.13135694G= | CA2323741571 | NACC1 | c.487G= (p.Val163=) | |
19 | g.13135694G>T | CA404325475 | NACC1 | c.487G>T (p.Val163Leu) | gnomAD v4 COSMIC |
19 | g.13135695T>A | CA404325476 | NACC1 | c.488T>A (p.Val163Glu) | gnomAD v4 |
19 | g.13135695T>C | CA404325477 | NACC1 | c.488T>C (p.Val163Ala) | gnomAD v4 |
19 | g.13135695T>G | CA404325478 | NACC1 | c.488T>G (p.Val163Gly) | |
19 | g.13135696G>A | CA505782463 | NACC1 | c.489G>A (p.Val163=) | dbSNP gnomAD v2 |
19 | g.13135696G>C | CA505782464 | NACC1 | c.489G>C (p.Val163=) | |
19 | g.13135696G= | CA2323741572 | NACC1 | c.489G= (p.Val163=) | |
19 | g.13135696G>T | CA505782465 | NACC1 | c.489G>T (p.Val163=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135697T>A | CA404325479 | NACC1 | c.490T>A (p.Ser164Thr) | gnomAD v4 |
19 | g.13135697T>C | CA404325481 | NACC1 | c.490T>C (p.Ser164Pro) | |
19 | g.13135697T>G | CA404325480 | NACC1 | c.490T>G (p.Ser164Ala) | gnomAD v4 |
19 | g.13135698C>A | CA404325482 | NACC1 | c.491C>A (p.Ser164Ter) | gnomAD v4 |
19 | g.13135698C= | CA2323741573 | NACC1 | c.491C= (p.Ser164=) | |
19 | g.13135698C>G | CA404325483 | NACC1 | c.491C>G (p.Ser164Trp) | |
19 | g.13135698C>T | CA305552971 | NACC1 | c.491C>T (p.Ser164Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135699G>A | CA9238283 | NACC1 | c.492G>A (p.Ser164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135699G>C | CA505782466 | NACC1 | c.492G>C (p.Ser164=) | |
19 | g.13135699G= | CA2323741574 | NACC1 | c.492G= (p.Ser164=) | |
19 | g.13135699G>T | CA505782468 | NACC1 | c.492G>T (p.Ser164=) | |
19 | g.13135700C>A | CA505782470 | NACC1 | c.493C>A (p.Arg165=) | gnomAD v4 |
19 | g.13135700C= | CA2323741575 | NACC1 | c.493C= (p.Arg165=) | |
19 | g.13135700C>G | CA404325484 | NACC1 | c.493C>G (p.Arg165Gly) | |
19 | g.13135700C>T | CA9238284 | NACC1 | c.493C>T (p.Arg165Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.13135701G>A | CA404325485 | NACC1 | c.494G>A (p.Arg165Gln) | gnomAD v4 |
19 | g.13135701G>C | CA404325486 | NACC1 | c.494G>C (p.Arg165Pro) | gnomAD v4 |
19 | g.13135701G= | CA2323741576 | NACC1 | c.494G= (p.Arg165=) | |
19 | g.13135701G>T | CA305552981 | NACC1 | c.494G>T (p.Arg165Leu) | dbSNP gnomAD v4 |
19 | g.13135702G>A | CA9238285 | NACC1 | c.495G>A (p.Arg165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135702G>C | CA505782472 | NACC1 | c.495G>C (p.Arg165=) | |
19 | g.13135702G= | CA2323741577 | NACC1 | c.495G= (p.Arg165=) | |
19 | g.13135702G>T | CA505782471 | NACC1 | c.495G>T (p.Arg165=) | gnomAD v4 |
19 | g.13135703G>A | CA404325487 | NACC1 | c.496G>A (p.Val166Met) c.496G>A | gnomAD v4 |
19 | g.13135703G>C | CA404325488 | NACC1 | c.496G>C (p.Val166Leu) c.496G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135703G= | CA2323741578 | NACC1 | c.496G= (p.Val166=) c.496G= | |
19 | g.13135703G>T | CA404325489 | NACC1 | c.496G>T (p.Val166Leu) c.496G>T | |
19 | g.13135704T>A | CA404325492 | NACC1 | c.497T>A (p.Val166Glu) c.497T>A | |
19 | g.13135704T>C | CA404325491 | NACC1 | c.497T>C (p.Val166Ala) c.497T>C | |
19 | g.13135704T>G | CA404325490 | NACC1 | c.497T>G (p.Val166Gly) c.497T>G | dbSNP |
19 | g.13135704T= | CA2323741579 | NACC1 | c.497T= (p.Val166=) c.497T= | |
19 | g.13135705G>A | CA505782476 | NACC1 | c.498G>A (p.Val166=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135705G>C | CA505782478 | NACC1 | c.498G>C (p.Val166=) | |
19 | g.13135705G= | CA2323741580 | NACC1 | c.498G= (p.Val166=) | |
19 | g.13135705G>T | CA505782477 | NACC1 | c.498G>T (p.Val166=) | gnomAD v4 |
19 | g.13135706A>C | CA404325493 | NACC1 | c.499A>C (p.Lys167Gln) | |
19 | g.13135706A>G | CA404325494 | NACC1 | c.499A>G (p.Lys167Glu) | |
19 | g.13135706A>T | CA404325495 | NACC1 | c.499A>T (p.Lys167Ter) | gnomAD v4 |
19 | g.13135707A>C | CA404325496 | NACC1 | c.500A>C (p.Lys167Thr) | |
19 | g.13135707A>G | CA404325497 | NACC1 | c.500A>G (p.Lys167Arg) | gnomAD v4 |
19 | g.13135707A>T | CA404325498 | NACC1 | c.500A>T (p.Lys167Met) | gnomAD v4 |
19 | g.13135708G>A | CA505782482 | NACC1 | c.501G>A (p.Lys167=) | |
19 | g.13135708G>C | CA404325499 | NACC1 | c.501G>C (p.Lys167Asn) | |
19 | g.13135708G>T | CA404325500 | NACC1 | c.501G>T (p.Lys167Asn) | gnomAD v4 |
19 | g.13135709A>C | CA404325501 | NACC1 | c.502A>C (p.Thr168Pro) | |
19 | g.13135709A>G | CA404325502 | NACC1 | c.502A>G (p.Thr168Ala) | |
19 | g.13135709A>T | CA404325503 | NACC1 | c.502A>T (p.Thr168Ser) | |
19 | g.13135710C>A | CA404325504 | NACC1 | c.503C>A (p.Thr168Lys) | gnomAD v4 |
19 | g.13135710C= | CA2323741581 | NACC1 | c.503C= (p.Thr168=) | |
19 | g.13135710C>G | CA404325505 | NACC1 | c.503C>G (p.Thr168Arg) | |
19 | g.13135710C>T | CA9238286 | NACC1 | c.503C>T (p.Thr168Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135711G>A | CA9238287 | NACC1 | c.504G>A (p.Thr168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13135711G>C | CA505782489 | NACC1 | c.504G>C (p.Thr168=) | |
19 | g.13135711G= | CA2323741582 | NACC1 | c.504G= (p.Thr168=) | |
19 | g.13135711G>T | CA505782490 | NACC1 | c.504G>T (p.Thr168=) | gnomAD v4 |
19 | g.13135712G>A | CA404325506 | NACC1 | c.505G>A (p.Glu169Lys) | |
19 | g.13135712G>C | CA404325507 | NACC1 | c.505G>C (p.Glu169Gln) | |
19 | g.13135712G>T | CA404325508 | NACC1 | c.505G>T (p.Glu169Ter) | gnomAD v4 |
19 | g.13135713A>C | CA404325509 | NACC1 | c.506A>C (p.Glu169Ala) | |
19 | g.13135713A>G | CA404325510 | NACC1 | c.506A>G (p.Glu169Gly) | |
19 | g.13135713A>T | CA404325511 | NACC1 | c.506A>T (p.Glu169Val) | |
19 | g.13135714G>A | CA505782491 | NACC1 | c.507G>A (p.Glu169=) | gnomAD v4 |
19 | g.13135714G>C | CA404325512 | NACC1 | c.507G>C (p.Glu169Asp) | |
19 | g.13135714G>T | CA404325513 | NACC1 | c.507G>T (p.Glu169Asp) | gnomAD v4 |
19 | g.13135715C>A | CA404325514 | NACC1 | c.508C>A (p.Gln170Lys) | gnomAD v4 |
19 | g.13135715C>G | CA404325515 | NACC1 | c.508C>G (p.Gln170Glu) | |
19 | g.13135715C>T | CA404325516 | NACC1 | c.508C>T (p.Gln170Ter) | gnomAD v4 |
19 | g.13135716A>C | CA404325518 | NACC1 | c.509A>C (p.Gln170Pro) | |
19 | g.13135716A>G | CA404325519 | NACC1 | c.509A>G (p.Gln170Arg) | gnomAD v4 |
19 | g.13135716A>T | CA404325517 | NACC1 | c.509A>T (p.Gln170Leu) | |
19 | g.13135717G>A | CA505782496 | NACC1 | c.510G>A (p.Gln170=) | gnomAD v4 |
19 | g.13135717G>C | CA404325520 | NACC1 | c.510G>C (p.Gln170His) | |
19 | g.13135717G>T | CA404325521 | NACC1 | c.510G>T (p.Gln170His) | gnomAD v4 |
19 | g.13135718C>A | CA404325522 | NACC1 | c.511C>A (p.Gln171Lys) | gnomAD v4 |
19 | g.13135718C= | CA2323741583 | NACC1 | c.511C= (p.Gln171=) | |
19 | g.13135718C>G | CA404325523 | NACC1 | c.511C>G (p.Gln171Glu) | dbSNP |
19 | g.13135718C>T | CA404325524 | NACC1 | c.511C>T (p.Gln171Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135719A>C | CA404325527 | NACC1 | c.512A>C (p.Gln171Pro) | |
19 | g.13135719A>G | CA404325525 | NACC1 | c.512A>G (p.Gln171Arg) | |
19 | g.13135719A>T | CA404325526 | NACC1 | c.512A>T (p.Gln171Leu) | |
19 | g.13135720G>A | CA305553004 | NACC1 | c.513G>A (p.Gln171=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135720G>C | CA404325528 | NACC1 | c.513G>C (p.Gln171His) | |
19 | g.13135720G= | CA2323741584 | NACC1 | c.513G= (p.Gln171=) | |
19 | g.13135720G>T | CA404325529 | NACC1 | c.513G>T (p.Gln171His) | |
19 | g.13135721G>A | CA404325530 | NACC1 | c.514G>A (p.Glu172Lys) | |
19 | g.13135721G>C | CA404325531 | NACC1 | c.514G>C (p.Glu172Gln) | |
19 | g.13135721G>T | CA404325532 | NACC1 | c.514G>T (p.Glu172Ter) | gnomAD v4 |
19 | g.13135722A>C | CA404325535 | NACC1 | c.515A>C (p.Glu172Ala) | |
19 | g.13135722A>G | CA404325534 | NACC1 | c.515A>G (p.Glu172Gly) | |
19 | g.13135722A>T | CA404325533 | NACC1 | c.515A>T (p.Glu172Val) | |
19 | g.13135723G>A | CA505782502 | NACC1 | c.516G>A (p.Glu172=) | |
19 | g.13135723G>C | CA404325536 | NACC1 | c.516G>C (p.Glu172Asp) | gnomAD v4 |
19 | g.13135723G>T | CA404325537 | NACC1 | c.516G>T (p.Glu172Asp) | gnomAD v4 |
19 | g.13135724T>A | CA404325538 | NACC1 | c.517T>A (p.Ser173Thr) | |
19 | g.13135724T>C | CA404325540 | NACC1 | c.517T>C (p.Ser173Pro) | gnomAD v4 |
19 | g.13135724T>G | CA404325539 | NACC1 | c.517T>G (p.Ser173Ala) | |
19 | g.13135725C>A | CA404325541 | NACC1 | c.518C>A (p.Ser173Ter) | gnomAD v4 |
19 | g.13135725C= | CA2323741585 | NACC1 | c.518C= (p.Ser173=) | |
19 | g.13135725C>G | CA404325542 | NACC1 | c.518C>G (p.Ser173Trp) | |
19 | g.13135725C>T | CA9238288 | NACC1 | c.518C>T (p.Ser173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135726G>A | CA305553008 | NACC1 | c.519G>A (p.Ser173=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135726G>C | CA505782506 | NACC1 | c.519G>C (p.Ser173=) | |
19 | g.13135726G= | CA2323741586 | NACC1 | c.519G= (p.Ser173=) | |
19 | g.13135726G>T | CA505782505 | NACC1 | c.519G>T (p.Ser173=) | gnomAD v4 |
19 | g.13135727G>A | CA404325543 | NACC1 | c.520G>A (p.Asp174Asn) | |
19 | g.13135727G>C | CA404325544 | NACC1 | c.520G>C (p.Asp174His) | |
19 | g.13135727G>T | CA404325545 | NACC1 | c.520G>T (p.Asp174Tyr) | gnomAD v4 |
19 | g.13135728A>C | CA404325546 | NACC1 | c.521A>C (p.Asp174Ala) | |
19 | g.13135728A>G | CA404325547 | NACC1 | c.521A>G (p.Asp174Gly) | gnomAD v4 |
19 | g.13135728A>T | CA404325548 | NACC1 | c.521A>T (p.Asp174Val) | ClinVar |
19 | g.13135729C>A | CA404325549 | NACC1 | c.522C>A (p.Asp174Glu) | gnomAD v4 |
19 | g.13135729C>G | CA404325550 | NACC1 | c.522C>G (p.Asp174Glu) | gnomAD v4 |
19 | g.13135729C>T | CA505782509 | NACC1 | c.522C>T (p.Asp174=) | gnomAD v4 |
19 | g.13135730T>A | CA404325551 | NACC1 | c.523T>A (p.Ser175Thr) | |
19 | g.13135730T>C | CA404325553 | NACC1 | c.523T>C (p.Ser175Pro) | |
19 | g.13135730T>G | CA404325552 | NACC1 | c.523T>G (p.Ser175Ala) | |
19 | g.13135731C>A | CA404325554 | NACC1 | c.524C>A (p.Ser175Tyr) | gnomAD v4 |
19 | g.13135731C>G | CA404325555 | NACC1 | c.524C>G (p.Ser175Cys) | |
19 | g.13135731C>T | CA404325556 | NACC1 | c.524C>T (p.Ser175Phe) | gnomAD v4 |
19 | g.13135732C>A | CA505782510 | NACC1 | c.525C>A (p.Ser175=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135732C= | CA2323741587 | NACC1 | c.525C= (p.Ser175=) | |
19 | g.13135732C>G | CA505782511 | NACC1 | c.525C>G (p.Ser175=) | |
19 | g.13135732C>T | CA9238289 | NACC1 | c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135733del | CA2582801214 | NACC1 | c.526del (p.Val176CysfsTer?) | gnomAD v4 |
19 | g.13135733G>A | CA305553016 | NACC1 | c.526G>A (p.Val176Met) | dbSNP gnomAD v4 |
19 | g.13135733G>C | CA404325558 | NACC1 | c.526G>C (p.Val176Leu) | |
19 | g.13135733G= | CA2323741588 | NACC1 | c.526G= (p.Val176=) | |
19 | g.13135733G>T | CA404325557 | NACC1 | c.526G>T (p.Val176Leu) | gnomAD v4 |
19 | g.13135734T>A | CA404325559 | NACC1 | c.527T>A (p.Val176Glu) | |
19 | g.13135734T>C | CA404325560 | NACC1 | c.527T>C (p.Val176Ala) | |
19 | g.13135734T>G | CA404325561 | NACC1 | c.527T>G (p.Val176Gly) | |
19 | g.13135735G>A | CA505782514 | NACC1 | c.528G>A (p.Val176=) | gnomAD v4 |
19 | g.13135735G>C | CA505782515 | NACC1 | c.528G>C (p.Val176=) | |
19 | g.13135735G>T | CA505782516 | NACC1 | c.528G>T (p.Val176=) | gnomAD v4 |
19 | g.13135735_13135742del | CA2582801215 | NACC1 | c.528_535del (p.Gln177AlafsTer?) | gnomAD v4 |
19 | g.13135736C>A | CA404325562 | NACC1 | c.529C>A (p.Gln177Lys) | gnomAD v4 |
19 | g.13135736C>G | CA404325563 | NACC1 | c.529C>G (p.Gln177Glu) | gnomAD v4 |
19 | g.13135736C>T | CA404325564 | NACC1 | c.529C>T (p.Gln177Ter) | gnomAD v4 |
19 | g.13135737A>C | CA404325565 | NACC1 | c.530A>C (p.Gln177Pro) | |
19 | g.13135737A>G | CA404325566 | NACC1 | c.530A>G (p.Gln177Arg) | ClinVar dbSNP |
19 | g.13135737A>T | CA404325567 | NACC1 | c.530A>T (p.Gln177Leu) | |
19 | g.13135738G>A | CA505782518 | NACC1 | c.531G>A (p.Gln177=) | gnomAD v4 |
19 | g.13135738G>C | CA404325568 | NACC1 | c.531G>C (p.Gln177His) | |
19 | g.13135738G>T | CA404325569 | NACC1 | c.531G>T (p.Gln177His) | gnomAD v4 |
19 | g.13135739T>A | CA404325572 | NACC1 | c.532T>A (p.Cys178Ser) | gnomAD v4 |
19 | g.13135739T>C | CA404325570 | NACC1 | c.532T>C (p.Cys178Arg) | gnomAD v4 |
19 | g.13135739T>G | CA404325571 | NACC1 | c.532T>G (p.Cys178Gly) | |
19 | g.13135740G>A | CA404325573 | NACC1 | c.533G>A (p.Cys178Tyr) | dbSNP gnomAD v4 |
19 | g.13135740G>C | CA404325574 | NACC1 | c.533G>C (p.Cys178Ser) | gnomAD v4 |
19 | g.13135740G= | CA2323741589 | NACC1 | c.533G= (p.Cys178=) | |
19 | g.13135740G>T | CA404325575 | NACC1 | c.533G>T (p.Cys178Phe) | gnomAD v4 |
19 | g.13135741C>A | CA404325576 | NACC1 | c.534C>A (p.Cys178Ter) | gnomAD v4 |
19 | g.13135741C= | CA2323741590 | NACC1 | c.534C= (p.Cys178=) | |
19 | g.13135741C>G | CA404325577 | NACC1 | c.534C>G (p.Cys178Trp) | |
19 | g.13135741C>T | CA505782524 | NACC1 | c.534C>T (p.Cys178=) | ClinVar dbSNP gnomAD v4 |
19 | g.13135742A= | CA2323741591 | NACC1 | c.535A= (p.Met179=) | |
19 | g.13135742A>C | CA404325580 | NACC1 | c.535A>C (p.Met179Leu) | gnomAD v4 |
19 | g.13135742A>G | CA404325579 | NACC1 | c.535A>G (p.Met179Val) | gnomAD v4 |
19 | g.13135742A>T | CA404325578 | NACC1 | c.535A>T (p.Met179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135743T>A | CA404325581 | NACC1 | c.536T>A (p.Met179Lys) | |
19 | g.13135743T>C | CA404325582 | NACC1 | c.536T>C (p.Met179Thr) | |
19 | g.13135743T>G | CA404325583 | NACC1 | c.536T>G (p.Met179Arg) | |
19 | g.13135744G>A | CA404325584 | NACC1 | c.537G>A (p.Met179Ile) | gnomAD v4 |
19 | g.13135744G>C | CA404325585 | NACC1 | c.537G>C (p.Met179Ile) | gnomAD v4 |
19 | g.13135744G>T | CA404325586 | NACC1 | c.537G>T (p.Met179Ile) | gnomAD v4 |
19 | g.13135745C>A | CA404325587 | NACC1 | c.538C>A (p.Pro180Thr) | gnomAD v4 |
19 | g.13135745C= | CA2323741592 | NACC1 | c.538C= (p.Pro180=) | |
19 | g.13135745C>G | CA404325588 | NACC1 | c.538C>G (p.Pro180Ala) | gnomAD v4 |
19 | g.13135745C>T | CA305553020 | NACC1 | c.538C>T (p.Pro180Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135746C>A | CA404325589 | NACC1 | c.539C>A (p.Pro180His) | gnomAD v4 |
19 | g.13135746C>G | CA404325590 | NACC1 | c.539C>G (p.Pro180Arg) | |
19 | g.13135746C>T | CA404325591 | NACC1 | c.539C>T (p.Pro180Leu) | gnomAD v4 |
19 | g.13135747C>A | CA505782540 | NACC1 | c.540C>A (p.Pro180=) | gnomAD v4 |
19 | g.13135747C= | CA2323741593 | NACC1 | c.540C= (p.Pro180=) | |
19 | g.13135747C>G | CA505782539 | NACC1 | c.540C>G (p.Pro180=) | gnomAD v4 |
19 | g.13135747C>T | CA9238290 | NACC1 | c.540C>T (p.Pro180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13135748G>A | CA9238291 | NACC1 | c.541G>A (p.Val181Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135748G>C | CA404325592 | NACC1 | c.541G>C (p.Val181Leu) | |
19 | g.13135748G= | CA2323741594 | NACC1 | c.541G= (p.Val181=) | |
19 | g.13135748G>T | CA404325593 | NACC1 | c.541G>T (p.Val181Leu) | gnomAD v4 |
19 | g.13135749T>A | CA404325594 | NACC1 | c.542T>A (p.Val181Glu) | |
19 | g.13135749T>C | CA404325595 | NACC1 | c.542T>C (p.Val181Ala) | gnomAD v4 |
19 | g.13135749T>G | CA404325596 | NACC1 | c.542T>G (p.Val181Gly) | ClinVar gnomAD v4 |
19 | g.13135750G>A | CA505782543 | NACC1 | c.543G>A (p.Val181=) | dbSNP gnomAD v4 |
19 | g.13135750G>C | CA505782545 | NACC1 | c.543G>C (p.Val181=) | |
19 | g.13135750G= | CA2323741595 | NACC1 | c.543G= (p.Val181=) | |
19 | g.13135750G>T | CA505782547 | NACC1 | c.543G>T (p.Val181=) | gnomAD v4 |
19 | g.13135751G>A | CA305553029 | NACC1 | c.544G>A (p.Ala182Thr) | dbSNP gnomAD v4 |
19 | g.13135751G>C | CA404325598 | NACC1 | c.544G>C (p.Ala182Pro) | |
19 | g.13135751G= | CA2323741596 | NACC1 | c.544G= (p.Ala182=) | |
19 | g.13135751G>T | CA404325597 | NACC1 | c.544G>T (p.Ala182Ser) | gnomAD v4 |
19 | g.13135752C>A | CA404325599 | NACC1 | c.545C>A (p.Ala182Asp) | gnomAD v4 |
19 | g.13135752C>G | CA404325600 | NACC1 | c.545C>G (p.Ala182Gly) | |
19 | g.13135752C>T | CA404325601 | NACC1 | c.545C>T (p.Ala182Val) | gnomAD v4 |
19 | g.13135753C>A | CA505782549 | NACC1 | c.546C>A (p.Ala182=) | gnomAD v4 |
19 | g.13135753C= | CA2323741597 | NACC1 | c.546C= (p.Ala182=) | |
19 | g.13135753C>G | CA505782550 | NACC1 | c.546C>G (p.Ala182=) | gnomAD v4 |
19 | g.13135753C>T | CA9238292 | NACC1 | c.546C>T (p.Ala182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135754A>C | CA404325602 | NACC1 | c.547A>C (p.Lys183Gln) | |
19 | g.13135754A>G | CA404325603 | NACC1 | c.547A>G (p.Lys183Glu) | gnomAD v4 |
19 | g.13135754A>T | CA404325604 | NACC1 | c.547A>T (p.Lys183Ter) | |
19 | g.13135755A>C | CA404325605 | NACC1 | c.548A>C (p.Lys183Thr) | gnomAD v4 |
19 | g.13135755A>G | CA404325607 | NACC1 | c.548A>G (p.Lys183Arg) | |
19 | g.13135755A>T | CA404325606 | NACC1 | c.548A>T (p.Lys183Met) | gnomAD v4 |
19 | g.13135756G>A | CA505782551 | NACC1 | c.549G>A (p.Lys183=) | gnomAD v4 |
19 | g.13135756G>C | CA404325608 | NACC1 | c.549G>C (p.Lys183Asn) | |
19 | g.13135756G>T | CA404325609 | NACC1 | c.549G>T (p.Lys183Asn) | gnomAD v4 |
19 | g.13135757C>A | CA505782555 | NACC1 | c.550C>A (p.Arg184=) | gnomAD v4 |
19 | g.13135757C= | CA2323741598 | NACC1 | c.550C= (p.Arg184=) | |
19 | g.13135757C>G | CA404325610 | NACC1 | c.550C>G (p.Arg184Gly) | |
19 | g.13135757C>T | CA404325611 | NACC1 | c.550C>T (p.Arg184Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135758G>A | CA404325612 | NACC1 | c.551G>A (p.Arg184Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135758G>C | CA404325614 | NACC1 | c.551G>C (p.Arg184Pro) | |
19 | g.13135758G= | CA2323741599 | NACC1 | c.551G= (p.Arg184=) | |
19 | g.13135758G>T | CA404325613 | NACC1 | c.551G>T (p.Arg184Leu) | gnomAD v4 |
19 | g.13135759G>A | CA505782556 | NACC1 | c.552G>A (p.Arg184=) | gnomAD v4 |
19 | g.13135759G>C | CA505782557 | NACC1 | c.552G>C (p.Arg184=) | |
19 | g.13135759G>T | CA505782558 | NACC1 | c.552G>T (p.Arg184=) | gnomAD v4 |