Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.13135760C>A | CA404325615 | NACC1 | c.553C>A (p.Leu185Met) | gnomAD v4 |
19 | g.13135760C>G | CA404325616 | NACC1 | c.553C>G (p.Leu185Val) | gnomAD v4 |
19 | g.13135760C>T | CA505782561 | NACC1 | c.553C>T (p.Leu185=) | gnomAD v4 |
19 | g.13135761T>A | CA404325617 | NACC1 | c.554T>A (p.Leu185Gln) | gnomAD v4 |
19 | g.13135761T>C | CA404325618 | NACC1 | c.554T>C (p.Leu185Pro) | gnomAD v4 |
19 | g.13135761T>G | CA404325619 | NACC1 | c.554T>G (p.Leu185Arg) | |
19 | g.13135762G>A | CA505782562 | NACC1 | c.555G>A (p.Leu185=) | |
19 | g.13135762G>C | CA505782563 | NACC1 | c.555G>C (p.Leu185=) | |
19 | g.13135762G>T | CA505782565 | NACC1 | c.555G>T (p.Leu185=) | gnomAD v4 |
19 | g.13135763T>A | CA404325620 | NACC1 | c.556T>A (p.Trp186Arg) | |
19 | g.13135763T>C | CA305553033 | NACC1 | c.556T>C (p.Trp186Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135763T>G | CA404325621 | NACC1 | c.556T>G (p.Trp186Gly) | |
19 | g.13135763T= | CA2323741600 | NACC1 | c.556T= (p.Trp186=) | |
19 | g.13135764G>A | CA404325622 | NACC1 | c.557G>A (p.Trp186Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135764G>C | CA404325623 | NACC1 | c.557G>C (p.Trp186Ser) | |
19 | g.13135764G= | CA2323741601 | NACC1 | c.557G= (p.Trp186=) | |
19 | g.13135764G>T | CA305553039 | NACC1 | c.557G>T (p.Trp186Leu) | dbSNP gnomAD v4 |
19 | g.13135766del | CA2582801216 | NACC1 | c.559del (p.Asp187ThrfsTer?) | gnomAD v4 |
19 | g.13135765G>A | CA404325624 | NACC1 | c.558G>A (p.Trp186Ter) | gnomAD v4 |
19 | g.13135765G>C | CA404325626 | NACC1 | c.558G>C (p.Trp186Cys) | |
19 | g.13135765G>T | CA404325625 | NACC1 | c.558G>T (p.Trp186Cys) | gnomAD v4 |
19 | g.13135766G>A | CA404325627 | NACC1 | c.559G>A (p.Asp187Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135766G>C | CA404325628 | NACC1 | c.559G>C (p.Asp187His) | |
19 | g.13135766G= | CA2323741602 | NACC1 | c.559G= (p.Asp187=) | |
19 | g.13135766G>T | CA404325629 | NACC1 | c.559G>T (p.Asp187Tyr) | gnomAD v4 |
19 | g.13135767A>C | CA404325630 | NACC1 | c.560A>C (p.Asp187Ala) | |
19 | g.13135767A>G | CA404325631 | NACC1 | c.560A>G (p.Asp187Gly) | gnomAD v4 |
19 | g.13135767A>T | CA404325632 | NACC1 | c.560A>T (p.Asp187Val) | |
19 | g.13135768C>A | CA404325633 | NACC1 | c.561C>A (p.Asp187Glu) | ClinVar gnomAD v4 |
19 | g.13135768C= | CA2323741603 | NACC1 | c.561C= (p.Asp187=) | |
19 | g.13135768C>G | CA404325634 | NACC1 | c.561C>G (p.Asp187Glu) | |
19 | g.13135768C>T | CA9238293 | NACC1 | c.561C>T (p.Asp187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135769A= | CA2323741604 | NACC1 | c.562A= (p.Ser188=) | |
19 | g.13135769A>C | CA404325635 | NACC1 | c.562A>C (p.Ser188Arg) | |
19 | g.13135769A>G | CA404325636 | NACC1 | c.562A>G (p.Ser188Gly) | dbSNP gnomAD v4 |
19 | g.13135769A>T | CA404325637 | NACC1 | c.562A>T (p.Ser188Cys) | |
19 | g.13135770G>A | CA404325640 | NACC1 | c.563G>A (p.Ser188Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135770G>C | CA404325638 | NACC1 | c.563G>C (p.Ser188Thr) | dbSNP gnomAD v4 |
19 | g.13135770G= | CA2323741605 | NACC1 | c.563G= (p.Ser188=) | |
19 | g.13135770G>T | CA404325639 | NACC1 | c.563G>T (p.Ser188Ile) | gnomAD v4 |
19 | g.13135771T>A | CA404325641 | NACC1 | c.564T>A (p.Ser188Arg) | gnomAD v4 |
19 | g.13135771T>C | CA505782572 | NACC1 | c.564T>C (p.Ser188=) | |
19 | g.13135771T>G | CA404325642 | NACC1 | c.564T>G (p.Ser188Arg) | |
19 | g.13135772G>A | CA404325643 | NACC1 | c.565G>A (p.Gly189Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135772G>C | CA404325644 | NACC1 | c.565G>C (p.Gly189Arg) | |
19 | g.13135772G= | CA2323741606 | NACC1 | c.565G= (p.Gly189=) | |
19 | g.13135772G>T | CA404325645 | NACC1 | c.565G>T (p.Gly189Cys) | gnomAD v4 |
19 | g.13135773G>A | CA404325646 | NACC1 | c.566G>A (p.Gly189Asp) | gnomAD v4 |
19 | g.13135773G>C | CA404325647 | NACC1 | c.566G>C (p.Gly189Ala) | |
19 | g.13135773G>T | CA404325648 | NACC1 | c.566G>T (p.Gly189Val) | gnomAD v4 |
19 | g.13135774C>A | CA505782580 | NACC1 | c.567C>A (p.Gly189=) | gnomAD v4 |
19 | g.13135774C>G | CA505782583 | NACC1 | c.567C>G (p.Gly189=) | |
19 | g.13135774C>T | CA505782582 | NACC1 | c.567C>T (p.Gly189=) | gnomAD v4 |
19 | g.13135775C>A | CA404325649 | NACC1 | c.568C>A (p.Gln190Lys) | gnomAD v4 |
19 | g.13135775C>G | CA404325650 | NACC1 | c.568C>G (p.Gln190Glu) | |
19 | g.13135775C>T | CA404325651 | NACC1 | c.568C>T (p.Gln190Ter) | gnomAD v4 |
19 | g.13135776A= | CA2323741607 | NACC1 | c.569A= (p.Gln190=) | |
19 | g.13135776A>C | CA305553045 | NACC1 | c.569A>C (p.Gln190Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135776A>G | CA404325653 | NACC1 | c.569A>G (p.Gln190Arg) | |
19 | g.13135776A>T | CA404325652 | NACC1 | c.569A>T (p.Gln190Leu) | |
19 | g.13135778_13135780del | CA2576641112 | NACC1 | c.571_573del (p.Lys191del) | gnomAD v4 |
19 | g.13135777G>A | CA505782587 | NACC1 | c.570G>A (p.Gln190=) | |
19 | g.13135777G>C | CA404325654 | NACC1 | c.570G>C (p.Gln190His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135777G= | CA2323741608 | NACC1 | c.570G= (p.Gln190=) | |
19 | g.13135777G>T | CA404325655 | NACC1 | c.570G>T (p.Gln190His) | gnomAD v4 |
19 | g.13135778A= | CA2323741609 | NACC1 | c.571A= (p.Lys191=) | |
19 | g.13135778A>C | CA404325656 | NACC1 | c.571A>C (p.Lys191Gln) | |
19 | g.13135778A>G | CA404325657 | NACC1 | c.571A>G (p.Lys191Glu) | dbSNP |
19 | g.13135778A>T | CA404325658 | NACC1 | c.571A>T (p.Lys191Ter) | |
19 | g.13135779A>C | CA404325659 | NACC1 | c.572A>C (p.Lys191Thr) | |
19 | g.13135779A>G | CA404325660 | NACC1 | c.572A>G (p.Lys191Arg) | |
19 | g.13135779A>T | CA404325661 | NACC1 | c.572A>T (p.Lys191Met) | |
19 | g.13135780G>A | CA505782590 | NACC1 | c.573G>A (p.Lys191=) | gnomAD v4 |
19 | g.13135780G>C | CA404325662 | NACC1 | c.573G>C (p.Lys191Asn) | |
19 | g.13135780G>T | CA404325663 | NACC1 | c.573G>T (p.Lys191Asn) | gnomAD v4 |
19 | g.13135781G>A | CA404325664 | NACC1 | c.574G>A (p.Glu192Lys) | gnomAD v4 |
19 | g.13135781G>C | CA404325665 | NACC1 | c.574G>C (p.Glu192Gln) | |
19 | g.13135781G>T | CA404325666 | NACC1 | c.574G>T (p.Glu192Ter) | |
19 | g.13135782A>C | CA404325669 | NACC1 | c.575A>C (p.Glu192Ala) | |
19 | g.13135782A>G | CA404325668 | NACC1 | c.575A>G (p.Glu192Gly) | |
19 | g.13135782A>T | CA404325667 | NACC1 | c.575A>T (p.Glu192Val) | |
19 | g.13135783G>A | CA505782594 | NACC1 | c.576G>A (p.Glu192=) | gnomAD v4 |
19 | g.13135783G>C | CA404325670 | NACC1 | c.576G>C (p.Glu192Asp) | dbSNP gnomAD v4 |
19 | g.13135783G= | CA2323741610 | NACC1 | c.576G= (p.Glu192=) | |
19 | g.13135783G>T | CA404325671 | NACC1 | c.576G>T (p.Glu192Asp) | gnomAD v4 |
19 | g.13135784G>A | CA404325672 | NACC1 | c.577G>A (p.Ala193Thr) | gnomAD v4 |
19 | g.13135784G>C | CA404325673 | NACC1 | c.577G>C (p.Ala193Pro) | |
19 | g.13135784G= | CA2323741611 | NACC1 | c.577G= (p.Ala193=) | |
19 | g.13135784G>T | CA404325674 | NACC1 | c.577G>T (p.Ala193Ser) | dbSNP gnomAD v4 |
19 | g.13135785C>A | CA404325675 | NACC1 | c.578C>A (p.Ala193Asp) | gnomAD v4 |
19 | g.13135785C= | CA2323741612 | NACC1 | c.578C= (p.Ala193=) | |
19 | g.13135785C>G | CA404325676 | NACC1 | c.578C>G (p.Ala193Gly) | |
19 | g.13135785C>T | CA404325677 | NACC1 | c.578C>T (p.Ala193Val) | dbSNP gnomAD v2 |
19 | g.13135786T>A | CA505782600 | NACC1 | c.579T>A (p.Ala193=) | |
19 | g.13135786T>C | CA505782601 | NACC1 | c.579T>C (p.Ala193=) | dbSNP |
19 | g.13135786T>G | CA505782603 | NACC1 | c.579T>G (p.Ala193=) | |
19 | g.13135787G>A | CA404325678 | NACC1 | c.580G>A (p.Gly194Arg) | |
19 | g.13135787G>C | CA404325679 | NACC1 | c.580G>C (p.Gly194Arg) | |
19 | g.13135787G>T | CA404325680 | NACC1 | c.580G>T (p.Gly194Trp) | gnomAD v4 |
19 | g.13135791del | CA2582801217 | NACC1 | c.584del (p.Gly195AlafsTer?) | gnomAD v4 |
19 | g.13135788G>A | CA404325681 | NACC1 | c.581G>A (p.Gly194Glu) | |
19 | g.13135788G>C | CA404325682 | NACC1 | c.581G>C (p.Gly194Ala) | |
19 | g.13135788G>T | CA404325683 | NACC1 | c.581G>T (p.Gly194Val) | gnomAD v4 |
19 | g.13135789G>A | CA505782605 | NACC1 | c.582G>A (p.Gly194=) | gnomAD v4 |
19 | g.13135789G>C | CA505782606 | NACC1 | c.582G>C (p.Gly194=) | |
19 | g.13135789G>T | CA505782609 | NACC1 | c.582G>T (p.Gly194=) | gnomAD v4 |
19 | g.13135790G>A | CA404325685 | NACC1 | c.583G>A (p.Gly195Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13135790G>C | CA404325686 | NACC1 | c.583G>C (p.Gly195Arg) | |
19 | g.13135790G= | CA2323741613 | NACC1 | c.583G= (p.Gly195=) | |
19 | g.13135790G>T | CA404325684 | NACC1 | c.583G>T (p.Gly195Cys) | gnomAD v4 |
19 | g.13135791G>A | CA404325687 | NACC1 | c.584G>A (p.Gly195Asp) | |
19 | g.13135791G>C | CA404325688 | NACC1 | c.584G>C (p.Gly195Ala) | |
19 | g.13135791G>T | CA404325689 | NACC1 | c.584G>T (p.Gly195Val) | gnomAD v4 |
19 | g.13135792C>A | CA505782616 | NACC1 | c.585C>A (p.Gly195=) | gnomAD v4 |
19 | g.13135792C= | CA2323741614 | NACC1 | c.585C= (p.Gly195=) | |
19 | g.13135792C>G | CA505782618 | NACC1 | c.585C>G (p.Gly195=) | |
19 | g.13135792C>T | CA9238294 | NACC1 | c.585C>T (p.Gly195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135793G>A | CA305553050 | NACC1 | c.586G>A (p.Gly196Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135793G>C | CA404325690 | NACC1 | c.586G>C (p.Gly196Arg) | |
19 | g.13135793G= | CA2323741615 | NACC1 | c.586G= (p.Gly196=) | |
19 | g.13135793G>T | CA404325691 | NACC1 | c.586G>T (p.Gly196Cys) | gnomAD v4 |
19 | g.13135794G>A | CA9238295 | NACC1 | c.587G>A (p.Gly196Asp) | dbSNP ExAC gnomAD v4 |
19 | g.13135794G>C | CA404325693 | NACC1 | c.587G>C (p.Gly196Ala) | |
19 | g.13135794G= | CA2323741616 | NACC1 | c.587G= (p.Gly196=) | |
19 | g.13135794G>T | CA404325692 | NACC1 | c.587G>T (p.Gly196Val) | gnomAD v4 |
19 | g.13135795C>A | CA505782623 | NACC1 | c.588C>A (p.Gly196=) | gnomAD v4 |
19 | g.13135795C= | CA2323741617 | NACC1 | c.588C= (p.Gly196=) | |
19 | g.13135795C>G | CA505782622 | NACC1 | c.588C>G (p.Gly196=) | |
19 | g.13135795C>T | CA9238296 | NACC1 | c.588C>T (p.Gly196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13135795_13135796insAGCAGT | CA2323741618 | NACC1 | c.588_589insAGCAGT (p.Gly196_Gly197insSerSer) | dbSNP |
19 | g.13135796G>A | CA9238297 | NACC1 | c.589G>A (p.Gly197Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13135796G>C | CA404325694 | NACC1 | c.589G>C (p.Gly197Arg) | |
19 | g.13135796G= | CA2323741619 | NACC1 | c.589G= (p.Gly197=) | |
19 | g.13135796G>T | CA404325695 | NACC1 | c.589G>T (p.Gly197Cys) | gnomAD v4 |
19 | g.13135797G>A | CA404325696 | NACC1 | c.590G>A (p.Gly197Asp) | gnomAD v4 |
19 | g.13135797G>C | CA404325698 | NACC1 | c.590G>C (p.Gly197Ala) | |
19 | g.13135797G>T | CA404325697 | NACC1 | c.590G>T (p.Gly197Val) | gnomAD v4 |
19 | g.13135798C>A | CA505782627 | NACC1 | c.591C>A (p.Gly197=) | |
19 | g.13135798C= | CA2323741620 | NACC1 | c.591C= (p.Gly197=) | |
19 | g.13135798C>G | CA505782626 | NACC1 | c.591C>G (p.Gly197=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13135798C>T | CA505782625 | NACC1 | c.591C>T (p.Gly197=) | gnomAD v4 |
19 | g.13135799A>C | CA404325699 | NACC1 | c.592A>C (p.Asn198His) | gnomAD v4 |
19 | g.13135799A>G | CA404325700 | NACC1 | c.592A>G (p.Asn198Asp) | |
19 | g.13135799A>T | CA404325701 | NACC1 | c.592A>T (p.Asn198Tyr) | |
19 | g.13135800A= | CA2323741621 | NACC1 | c.593A= (p.Asn198=) | |
19 | g.13135800A>C | CA404325702 | NACC1 | c.593A>C (p.Asn198Thr) | |
19 | g.13135800A>G | CA305553061 | NACC1 | c.593A>G (p.Asn198Ser) | dbSNP gnomAD v2 |
19 | g.13135800A>T | CA404325703 | NACC1 | c.593A>T (p.Asn198Ile) | |
19 | g.13135801T>A | CA404325704 | NACC1 | c.594T>A (p.Asn198Lys) | |
19 | g.13135801T>C | CA305553065 | NACC1 | c.594T>C (p.Asn198=) | dbSNP gnomAD v4 |
19 | g.13135801T>G | CA404325705 | NACC1 | c.594T>G (p.Asn198Lys) | |
19 | g.13135801T= | CA2323741622 | NACC1 | c.594T= (p.Asn198=) | |
19 | g.13135802G>A | CA404325706 | NACC1 | c.595G>A (p.Gly199Ser) | |
19 | g.13135802G>C | CA404325707 | NACC1 | c.595G>C (p.Gly199Arg) | |
19 | g.13135802G>T | CA404325708 | NACC1 | c.595G>T (p.Gly199Cys) | gnomAD v4 |
19 | g.13135803G>A | CA404325709 | NACC1 | c.596G>A (p.Gly199Asp) | gnomAD v4 |
19 | g.13135803G>C | CA404325710 | NACC1 | c.596G>C (p.Gly199Ala) | |
19 | g.13135803G= | CA2323741623 | NACC1 | c.596G= (p.Gly199=) | |
19 | g.13135803G>T | CA305553066 | NACC1 | c.596G>T (p.Gly199Val) | ClinVar dbSNP gnomAD v4 |