Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13136053_13136055del | CA2576641113 | NACC1 | c.846_848del (p.Glu282del) | ClinVar gnomAD v4 |
19 | g.13136051G>A | CA404326584 | NACC1 | c.844G>A (p.Glu282Lys) | |
19 | g.13136051G>C | CA404326585 | NACC1 | c.844G>C (p.Glu282Gln) | |
19 | g.13136051G>T | CA404326587 | NACC1 | c.844G>T (p.Glu282Ter) | |
19 | g.13136052A>C | CA404326589 | NACC1 | c.845A>C (p.Glu282Ala) | |
19 | g.13136052A>G | CA404326591 | NACC1 | c.845A>G (p.Glu282Gly) | |
19 | g.13136052A>T | CA404326592 | NACC1 | c.845A>T (p.Glu282Val) | |
19 | g.13136053G>A | CA9238331 | NACC1 | c.846G>A (p.Glu282=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136053G>C | CA404326595 | NACC1 | c.846G>C (p.Glu282Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.13136053G= | CA2323741729 | NACC1 | c.846G= (p.Glu282=) | |
19 | g.13136053G>T | CA404326597 | NACC1 | c.846G>T (p.Glu282Asp) | |
19 | g.13136054G>A | CA404326599 | NACC1 | c.847G>A (p.Asp283Asn) | gnomAD v4 |
19 | g.13136054G>C | CA404326601 | NACC1 | c.847G>C (p.Asp283His) | |
19 | g.13136054G>T | CA404326602 | NACC1 | c.847G>T (p.Asp283Tyr) | |
19 | g.13136055A>C | CA404326608 | NACC1 | c.848A>C (p.Asp283Ala) | ClinVar |
19 | g.13136055A>G | CA404326607 | NACC1 | c.848A>G (p.Asp283Gly) | |
19 | g.13136055A>T | CA404326605 | NACC1 | c.848A>T (p.Asp283Val) | |
19 | g.13136056C>A | CA404326610 | NACC1 | c.849C>A (p.Asp283Glu) | dbSNP |
19 | g.13136056C= | CA2323741730 | NACC1 | c.849C= (p.Asp283=) | |
19 | g.13136056C>G | CA404326611 | NACC1 | c.849C>G (p.Asp283Glu) | dbSNP gnomAD v4 |
19 | g.13136056C>T | CA9238332 | NACC1 | c.849C>T (p.Asp283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136057G>A | CA404326613 | NACC1 | c.850G>A (p.Glu284Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136057G>C | CA404326617 | NACC1 | c.850G>C (p.Glu284Gln) | |
19 | g.13136057G= | CA2323741731 | NACC1 | c.850G= (p.Glu284=) | |
19 | g.13136057G>T | CA404326615 | NACC1 | c.850G>T (p.Glu284Ter) | gnomAD v4 |
19 | g.13136065_13136067dup | CA505782998 | NACC1 | c.858_860dup (p.Glu286_Asp287insGlu) | |
19 | g.13136058A= | CA2323741732 | NACC1 | c.851A= (p.Glu284=) | |
19 | g.13136058A>C | CA404326618 | NACC1 | c.851A>C (p.Glu284Ala) | |
19 | g.13136058A>G | CA9238333 | NACC1 | c.851A>G (p.Glu284Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136058A>T | CA404326620 | NACC1 | c.851A>T (p.Glu284Val) | |
19 | g.13136059G>A | CA505783003 | NACC1 | c.852G>A (p.Glu284=) | gnomAD v4 |
19 | g.13136059G>C | CA404326622 | NACC1 | c.852G>C (p.Glu284Asp) | gnomAD v4 |
19 | g.13136059G>T | CA404326624 | NACC1 | c.852G>T (p.Glu284Asp) | |
19 | g.13136060G>A | CA404326625 | NACC1 | c.853G>A (p.Glu285Lys) | |
19 | g.13136060G>C | CA404326626 | NACC1 | c.853G>C (p.Glu285Gln) | |
19 | g.13136060G>T | CA404326627 | NACC1 | c.853G>T (p.Glu285Ter) | |
19 | g.13136061A>C | CA404326630 | NACC1 | c.854A>C (p.Glu285Ala) | |
19 | g.13136061A>G | CA404326632 | NACC1 | c.854A>G (p.Glu285Gly) | |
19 | g.13136061A>T | CA404326633 | NACC1 | c.854A>T (p.Glu285Val) | |
19 | g.13136062G>A | CA505783013 | NACC1 | c.855G>A (p.Glu285=) | dbSNP |
19 | g.13136062G>C | CA404326635 | NACC1 | c.855G>C (p.Glu285Asp) | |
19 | g.13136062G= | CA2323741733 | NACC1 | c.855G= (p.Glu285=) | |
19 | g.13136062G>T | CA404326637 | NACC1 | c.855G>T (p.Glu285Asp) | |
19 | g.13136063G>A | CA404326639 | NACC1 | c.856G>A (p.Glu286Lys) | |
19 | g.13136063G>C | CA404326643 | NACC1 | c.856G>C (p.Glu286Gln) | |
19 | g.13136063G>T | CA404326641 | NACC1 | c.856G>T (p.Glu286Ter) | |
19 | g.13136064A>C | CA404326645 | NACC1 | c.857A>C (p.Glu286Ala) | |
19 | g.13136064A>G | CA404326646 | NACC1 | c.857A>G (p.Glu286Gly) | |
19 | g.13136064A>T | CA404326647 | NACC1 | c.857A>T (p.Glu286Val) | |
19 | g.13136065G>A | CA505783027 | NACC1 | c.858G>A (p.Glu286=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136065G>C | CA404326648 | NACC1 | c.858G>C (p.Glu286Asp) | |
19 | g.13136065G= | CA2323741734 | NACC1 | c.858G= (p.Glu286=) | |
19 | g.13136065G>T | CA404326649 | NACC1 | c.858G>T (p.Glu286Asp) | gnomAD v4 |
19 | g.13136066G>A | CA404326652 | NACC1 | c.859G>A (p.Asp287Asn) | |
19 | g.13136066G>C | CA404326653 | NACC1 | c.859G>C (p.Asp287His) | |
19 | g.13136066G>T | CA404326654 | NACC1 | c.859G>T (p.Asp287Tyr) | |
19 | g.13136067A>C | CA404326655 | NACC1 | c.860A>C (p.Asp287Ala) | |
19 | g.13136067A>G | CA404326657 | NACC1 | c.860A>G (p.Asp287Gly) | gnomAD v4 |
19 | g.13136067A>T | CA404326659 | NACC1 | c.860A>T (p.Asp287Val) | |
19 | g.13136068T>A | CA404326662 | NACC1 | c.861T>A (p.Asp287Glu) | |
19 | g.13136068T>C | CA505783041 | NACC1 | c.861T>C (p.Asp287=) | |
19 | g.13136068T>G | CA404326661 | NACC1 | c.861T>G (p.Asp287Glu) | |
19 | g.13136069G>A | CA404326664 | NACC1 | c.862G>A (p.Gly288Ser) | |
19 | g.13136069G>C | CA404326666 | NACC1 | c.862G>C (p.Gly288Arg) | |
19 | g.13136069G>T | CA404326668 | NACC1 | c.862G>T (p.Gly288Cys) | |
19 | g.13136070G>A | CA404326670 | NACC1 | c.863G>A (p.Gly288Asp) | |
19 | g.13136070G>C | CA404326671 | NACC1 | c.863G>C (p.Gly288Ala) | |
19 | g.13136070G>T | CA404326673 | NACC1 | c.863G>T (p.Gly288Val) | |
19 | g.13136071T>A | CA505783047 | NACC1 | c.864T>A (p.Gly288=) | |
19 | g.13136071T>C | CA505783048 | NACC1 | c.864T>C (p.Gly288=) | |
19 | g.13136071T>G | CA505783049 | NACC1 | c.864T>G (p.Gly288=) | |
19 | g.13136072G>A | CA404326674 | NACC1 | c.865G>A (p.Gly289Ser) | |
19 | g.13136072G>C | CA404326675 | NACC1 | c.865G>C (p.Gly289Arg) | |
19 | g.13136072G>T | CA404326676 | NACC1 | c.865G>T (p.Gly289Cys) | |
19 | g.13136073G>A | CA404326678 | NACC1 | c.866G>A (p.Gly289Asp) | |
19 | g.13136073G>C | CA404326679 | NACC1 | c.866G>C (p.Gly289Ala) | gnomAD v4 |
19 | g.13136073G>T | CA404326681 | NACC1 | c.866G>T (p.Gly289Val) | |
19 | g.13136074C>A | CA505783052 | NACC1 | c.867C>A (p.Gly289=) | ClinVar gnomAD v4 |
19 | g.13136074C= | CA2323741735 | NACC1 | c.867C= (p.Gly289=) | |
19 | g.13136074C>G | CA505783053 | NACC1 | c.867C>G (p.Gly289=) | |
19 | g.13136074C>T | CA9238334 | NACC1 | c.867C>T (p.Gly289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.13136075G>A | CA404326686 | NACC1 | c.868G>A (p.Glu290Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136075G>C | CA404326685 | NACC1 | c.868G>C (p.Glu290Gln) | |
19 | g.13136075G= | CA2323741736 | NACC1 | c.868G= (p.Glu290=) | |
19 | g.13136075G>T | CA404326683 | NACC1 | c.868G>T (p.Glu290Ter) | |
19 | g.13136076A>C | CA404326689 | NACC1 | c.869A>C (p.Glu290Ala) | |
19 | g.13136076A>G | CA404326691 | NACC1 | c.869A>G (p.Glu290Gly) | |
19 | g.13136076A>T | CA404326692 | NACC1 | c.869A>T (p.Glu290Val) | |
19 | g.13136077G>A | CA505783062 | NACC1 | c.870G>A (p.Glu290=) | |
19 | g.13136077G>C | CA404326694 | NACC1 | c.870G>C (p.Glu290Asp) | |
19 | g.13136077G>T | CA404326696 | NACC1 | c.870G>T (p.Glu290Asp) | |
19 | g.13136078G>A | CA404326698 | NACC1 | c.871G>A (p.Glu291Lys) | |
19 | g.13136078G>C | CA404326699 | NACC1 | c.871G>C (p.Glu291Gln) | |
19 | g.13136078G>T | CA404326700 | NACC1 | c.871G>T (p.Glu291Ter) | |
19 | g.13136079A= | CA2323741737 | NACC1 | c.872A= (p.Glu291=) | |
19 | g.13136079A>C | CA404326702 | NACC1 | c.872A>C (p.Glu291Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136079A>G | CA404326703 | NACC1 | c.872A>G (p.Glu291Gly) | |
19 | g.13136079A>T | CA404326704 | NACC1 | c.872A>T (p.Glu291Val) | |
19 | g.13136080G>A | CA505783067 | NACC1 | c.873G>A (p.Glu291=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.13136080G>C | CA9238335 | NACC1 | c.873G>C (p.Glu291Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136080G= | CA2323741738 | NACC1 | c.873G= (p.Glu291=) | |
19 | g.13136080G>T | CA404326706 | NACC1 | c.873G>T (p.Glu291Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136081G>A | CA404326710 | NACC1 | c.874G>A (p.Gly292Ser) | ClinVar gnomAD v4 |
19 | g.13136081G>C | CA404326712 | NACC1 | c.874G>C (p.Gly292Arg) | |
19 | g.13136081G>T | CA404326708 | NACC1 | c.874G>T (p.Gly292Cys) | |
19 | g.13136082G>A | CA404326713 | NACC1 | c.875G>A (p.Gly292Asp) | gnomAD v4 |
19 | g.13136082G>C | CA404326715 | NACC1 | c.875G>C (p.Gly292Ala) | gnomAD v4 |
19 | g.13136082G>T | CA404326717 | NACC1 | c.875G>T (p.Gly292Val) | |
19 | g.13136083C>A | CA505783079 | NACC1 | c.876C>A (p.Gly292=) | |
19 | g.13136083C>G | CA505783083 | NACC1 | c.876C>G (p.Gly292=) | |
19 | g.13136083C>T | CA505783077 | NACC1 | c.876C>T (p.Gly292=) | |
19 | g.13136084A>C | CA404326718 | NACC1 | c.877A>C (p.Met293Leu) | |
19 | g.13136084A>G | CA404326719 | NACC1 | c.877A>G (p.Met293Val) | gnomAD v4 |
19 | g.13136084A>T | CA404326722 | NACC1 | c.877A>T (p.Met293Leu) | |
19 | g.13136085T>A | CA404326726 | NACC1 | c.878T>A (p.Met293Lys) | |
19 | g.13136085T>C | CA404326725 | NACC1 | c.878T>C (p.Met293Thr) | gnomAD v4 |
19 | g.13136085T>G | CA404326724 | NACC1 | c.878T>G (p.Met293Arg) | gnomAD v4 |
19 | g.13136086G>A | CA9238336 | NACC1 | c.879G>A (p.Met293Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136086G>C | CA404326730 | NACC1 | c.879G>C (p.Met293Ile) | gnomAD v4 |
19 | g.13136086G= | CA2323741739 | NACC1 | c.879G= (p.Met293=) | |
19 | g.13136086G>T | CA404326731 | NACC1 | c.879G>T (p.Met293Ile) | |
19 | g.13136087G>A | CA404326733 | NACC1 | c.880G>A (p.Asp294Asn) | dbSNP |
19 | g.13136087G>C | CA404326734 | NACC1 | c.880G>C (p.Asp294His) | |
19 | g.13136087G= | CA2323741740 | NACC1 | c.880G= (p.Asp294=) | |
19 | g.13136087G>T | CA404326736 | NACC1 | c.880G>T (p.Asp294Tyr) | |
19 | g.13136088A= | CA2323741741 | NACC1 | c.881A= (p.Asp294=) | |
19 | g.13136088A>C | CA404326738 | NACC1 | c.881A>C (p.Asp294Ala) | |
19 | g.13136088A>G | CA404326741 | NACC1 | c.881A>G (p.Asp294Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136088A>T | CA404326739 | NACC1 | c.881A>T (p.Asp294Val) | gnomAD v4 |
19 | g.13136089T>A | CA404326742 | NACC1 | c.882T>A (p.Asp294Glu) | |
19 | g.13136089T>C | CA505783090 | NACC1 | c.882T>C (p.Asp294=) | |
19 | g.13136089T>G | CA404326744 | NACC1 | c.882T>G (p.Asp294Glu) | |
19 | g.13136090G>A | CA404326746 | NACC1 | c.883G>A (p.Glu295Lys) | |
19 | g.13136090G>C | CA404326748 | NACC1 | c.883G>C (p.Glu295Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136090G= | CA2323741742 | NACC1 | c.883G= (p.Glu295=) | |
19 | g.13136090G>T | CA404326749 | NACC1 | c.883G>T (p.Glu295Ter) | |
19 | g.13136091A>C | CA404326750 | NACC1 | c.884A>C (p.Glu295Ala) | |
19 | g.13136091A>G | CA404326751 | NACC1 | c.884A>G (p.Glu295Gly) | |
19 | g.13136091A>T | CA404326752 | NACC1 | c.884A>T (p.Glu295Val) | |
19 | g.13136092G>A | CA9238337 | NACC1 | c.885G>A (p.Glu295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136092G>C | CA404326754 | NACC1 | c.885G>C (p.Glu295Asp) | |
19 | g.13136092G= | CA2323741743 | NACC1 | c.885G= (p.Glu295=) | |
19 | g.13136092G>T | CA404326756 | NACC1 | c.885G>T (p.Glu295Asp) | |
19 | g.13136093C>A | CA404326758 | NACC1 | c.886C>A (p.Gln296Lys) | |
19 | g.13136093C>G | CA404326760 | NACC1 | c.886C>G (p.Gln296Glu) | |
19 | g.13136093C>T | CA404326759 | NACC1 | c.886C>T (p.Gln296Ter) | |
19 | g.13136094A>C | CA404326762 | NACC1 | c.887A>C (p.Gln296Pro) | |
19 | g.13136094A>G | CA404326764 | NACC1 | c.887A>G (p.Gln296Arg) | |
19 | g.13136094A>T | CA404326765 | NACC1 | c.887A>T (p.Gln296Leu) | |
19 | g.13136095G>A | CA505783102 | NACC1 | c.888G>A (p.Gln296=) | |
19 | g.13136095G>C | CA404326766 | NACC1 | c.888G>C (p.Gln296His) | |
19 | g.13136095G>T | CA404326767 | NACC1 | c.888G>T (p.Gln296His) | |
19 | g.13136096T>A | CA404326769 | NACC1 | c.889T>A (p.Tyr297Asn) | gnomAD v4 |
19 | g.13136096T>C | CA404326771 | NACC1 | c.889T>C (p.Tyr297His) | |
19 | g.13136096T>G | CA404326772 | NACC1 | c.889T>G (p.Tyr297Asp) | |
19 | g.13136097A>C | CA404326774 | NACC1 | c.890A>C (p.Tyr297Ser) | |
19 | g.13136097A>G | CA404326776 | NACC1 | c.890A>G (p.Tyr297Cys) | |
19 | g.13136097A>T | CA404326778 | NACC1 | c.890A>T (p.Tyr297Phe) | |
19 | g.13136098C>A | CA404326779 | NACC1 | c.891C>A (p.Tyr297Ter) | |
19 | g.13136098C>G | CA404326780 | NACC1 | c.891C>G (p.Tyr297Ter) | |
19 | g.13136098C>T | CA505783109 | NACC1 | c.891C>T (p.Tyr297=) | |
19 | g.13136099C>A | CA505783111 | NACC1 | c.892C>A (p.Arg298=) | dbSNP gnomAD v2 |
19 | g.13136099C= | CA2323741744 | NACC1 | c.892C= (p.Arg298=) | |
19 | g.13136099C>G | CA404326782 | NACC1 | c.892C>G (p.Arg298Gly) | |
19 | g.13136099C>T | CA16616876 | NACC1 | c.892C>T (p.Arg298Trp) | ClinVar dbSNP COSMIC |
19 | g.13136100G>A | CA404326785 | NACC1 | c.893G>A (p.Arg298Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.13136100G>C | CA404326787 | NACC1 | c.893G>C (p.Arg298Pro) | |
19 | g.13136100G= | CA2323741745 | NACC1 | c.893G= (p.Arg298=) | |
19 | g.13136100G>T | CA9238338 | NACC1 | c.893G>T (p.Arg298Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136101G>A | CA505783116 | NACC1 | c.894G>A (p.Arg298=) | |
19 | g.13136101G>C | CA505783117 | NACC1 | c.894G>C (p.Arg298=) | |
19 | g.13136101G= | CA2323741746 | NACC1 | c.894G= (p.Arg298=) | |
19 | g.13136101G>T | CA505783118 | NACC1 | c.894G>T (p.Arg298=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136102C>A | CA404326789 | NACC1 | c.895C>A (p.Gln299Lys) | gnomAD v4 |
19 | g.13136102C>G | CA404326790 | NACC1 | c.895C>G (p.Gln299Glu) | |
19 | g.13136102C>T | CA404326792 | NACC1 | c.895C>T (p.Gln299Ter) | |
19 | g.13136103A>C | CA404326793 | NACC1 | c.896A>C (p.Gln299Pro) | |
19 | g.13136103A>G | CA404326795 | NACC1 | c.896A>G (p.Gln299Arg) | |
19 | g.13136103A>T | CA404326797 | NACC1 | c.896A>T (p.Gln299Leu) | |
19 | g.13136104G>A | CA505783122 | NACC1 | c.897G>A (p.Gln299=) | |
19 | g.13136104G>C | CA404326799 | NACC1 | c.897G>C (p.Gln299His) | |
19 | g.13136104G>T | CA404326800 | NACC1 | c.897G>T (p.Gln299His) | |
19 | g.13136105A>C | CA404326806 | NACC1 | c.898A>C (p.Ile300Leu) | |
19 | g.13136105A>G | CA404326804 | NACC1 | c.898A>G (p.Ile300Val) | |
19 | g.13136105A>T | CA404326803 | NACC1 | c.898A>T (p.Ile300Phe) | |
19 | g.13136106T>A | CA404326808 | NACC1 | c.899T>A (p.Ile300Asn) | |
19 | g.13136106T>C | CA404326811 | NACC1 | c.899T>C (p.Ile300Thr) | |
19 | g.13136106T>G | CA404326810 | NACC1 | c.899T>G (p.Ile300Ser) | |
19 | g.13136107C>A | CA505783129 | NACC1 | c.900C>A (p.Ile300=) | |
19 | g.13136107C>G | CA404326813 | NACC1 | c.900C>G (p.Ile300Met) | |
19 | g.13136107C>T | CA505783132 | NACC1 | c.900C>T (p.Ile300=) | |
19 | g.13136108T>A | CA404326814 | NACC1 | c.901T>A (p.Cys301Ser) | |
19 | g.13136108T>C | CA404326816 | NACC1 | c.901T>C (p.Cys301Arg) | |
19 | g.13136108T>G | CA404326818 | NACC1 | c.901T>G (p.Cys301Gly) | |
19 | g.13136109G>A | CA404326819 | NACC1 | c.902G>A (p.Cys301Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136109G>C | CA404326820 | NACC1 | c.902G>C (p.Cys301Ser) | |
19 | g.13136109G= | CA2323741747 | NACC1 | c.902G= (p.Cys301=) | |
19 | g.13136109G>T | CA404326821 | NACC1 | c.902G>T (p.Cys301Phe) | |
19 | g.13136110C>A | CA404326823 | NACC1 | c.903C>A (p.Cys301Ter) | |
19 | g.13136110C>G | CA404326825 | NACC1 | c.903C>G (p.Cys301Trp) | |
19 | g.13136110C>T | CA505783137 | NACC1 | c.903C>T (p.Cys301=) | gnomAD v4 |
19 | g.13136111A>C | CA404326827 | NACC1 | c.904A>C (p.Asn302His) | |
19 | g.13136111A>G | CA404326828 | NACC1 | c.904A>G (p.Asn302Asp) | |
19 | g.13136111A>T | CA404326830 | NACC1 | c.904A>T (p.Asn302Tyr) | |
19 | g.13136112A= | CA2323741748 | NACC1 | c.905A= (p.Asn302=) | |
19 | g.13136112A>C | CA404326832 | NACC1 | c.905A>C (p.Asn302Thr) | |
19 | g.13136112A>G | CA9238339 | NACC1 | c.905A>G (p.Asn302Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136112A>T | CA404326834 | NACC1 | c.905A>T (p.Asn302Ile) | |
19 | g.13136113C>A | CA404326836 | NACC1 | c.906C>A (p.Asn302Lys) | |
19 | g.13136113C>G | CA404326838 | NACC1 | c.906C>G (p.Asn302Lys) | |
19 | g.13136113C>T | CA505783142 | NACC1 | c.906C>T (p.Asn302=) | |
19 | g.13136121_13136129del | CA2576641114 | NACC1 | c.914_922del (p.Thr305_Tyr307del) | |
19 | g.13136114A>C | CA404326840 | NACC1 | c.907A>C (p.Met303Leu) | |
19 | g.13136114A>G | CA404326842 | NACC1 | c.907A>G (p.Met303Val) | |
19 | g.13136114A>T | CA404326843 | NACC1 | c.907A>T (p.Met303Leu) | |
19 | g.13136115T>A | CA404326845 | NACC1 | c.908T>A (p.Met303Lys) | |
19 | g.13136115T>C | CA404326847 | NACC1 | c.908T>C (p.Met303Thr) | gnomAD v4 |
19 | g.13136115T>G | CA404326849 | NACC1 | c.908T>G (p.Met303Arg) | gnomAD v4 |
19 | g.13136116G>A | CA305553372 | NACC1 | c.909G>A (p.Met303Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136116G>C | CA404326851 | NACC1 | c.909G>C (p.Met303Ile) | |
19 | g.13136116G= | CA2323741749 | NACC1 | c.909G= (p.Met303=) | |
19 | g.13136116G>T | CA404326853 | NACC1 | c.909G>T (p.Met303Ile) | |
19 | g.13136117T>A | CA404326855 | NACC1 | c.910T>A (p.Tyr304Asn) | |
19 | g.13136117T>C | CA404326857 | NACC1 | c.910T>C (p.Tyr304His) | |
19 | g.13136117T>G | CA404326858 | NACC1 | c.910T>G (p.Tyr304Asp) | |
19 | g.13136118A>C | CA404326860 | NACC1 | c.911A>C (p.Tyr304Ser) | |
19 | g.13136118A>G | CA404326864 | NACC1 | c.911A>G (p.Tyr304Cys) | |
19 | g.13136118A>T | CA404326862 | NACC1 | c.911A>T (p.Tyr304Phe) | |
19 | g.13136119C>A | CA404326865 | NACC1 | c.912C>A (p.Tyr304Ter) | |
19 | g.13136119C= | CA2323741750 | NACC1 | c.912C= (p.Tyr304=) | |
19 | g.13136119C>G | CA404326867 | NACC1 | c.912C>G (p.Tyr304Ter) | |
19 | g.13136119C>T | CA9238340 | NACC1 | c.912C>T (p.Tyr304=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136120A>C | CA404326870 | NACC1 | c.913A>C (p.Thr305Pro) | |
19 | g.13136120A>G | CA404326871 | NACC1 | c.913A>G (p.Thr305Ala) | |
19 | g.13136120A>T | CA404326872 | NACC1 | c.913A>T (p.Thr305Ser) | ClinVar |
19 | g.13136121C>A | CA404326874 | NACC1 | c.914C>A (p.Thr305Asn) | |
19 | g.13136121C>G | CA404326876 | NACC1 | c.914C>G (p.Thr305Ser) | |
19 | g.13136121C>T | CA404326877 | NACC1 | c.914C>T (p.Thr305Ile) | gnomAD v4 |
19 | g.13136122C>A | CA505783151 | NACC1 | c.915C>A (p.Thr305=) | |
19 | g.13136122C>G | CA505783154 | NACC1 | c.915C>G (p.Thr305=) | |
19 | g.13136122C>T | CA505783157 | NACC1 | c.915C>T (p.Thr305=) | |
19 | g.13136123A>C | CA404326879 | NACC1 | c.916A>C (p.Met306Leu) | |
19 | g.13136123A>G | CA404326881 | NACC1 | c.916A>G (p.Met306Val) | gnomAD v4 |
19 | g.13136123A>T | CA404326882 | NACC1 | c.916A>T (p.Met306Leu) | |
19 | g.13136124T>A | CA404326887 | NACC1 | c.917T>A (p.Met306Lys) | ClinVar |
19 | g.13136124T>C | CA404326884 | NACC1 | c.917T>C (p.Met306Thr) | gnomAD v4 |
19 | g.13136124T>G | CA404326885 | NACC1 | c.917T>G (p.Met306Arg) | gnomAD v4 |
19 | g.13136125G>A | CA404326888 | NACC1 | c.918G>A (p.Met306Ile) | gnomAD v4 |
19 | g.13136125G>C | CA404326889 | NACC1 | c.918G>C (p.Met306Ile) | |
19 | g.13136125G>T | CA404326891 | NACC1 | c.918G>T (p.Met306Ile) | |
19 | g.13136126T>A | CA404326892 | NACC1 | c.919T>A (p.Tyr307Asn) | |
19 | g.13136126T>C | CA404326894 | NACC1 | c.919T>C (p.Tyr307His) | |
19 | g.13136126T>G | CA404326895 | NACC1 | c.919T>G (p.Tyr307Asp) | |
19 | g.13136127A>C | CA404326897 | NACC1 | c.920A>C (p.Tyr307Ser) | |
19 | g.13136127A>G | CA404326898 | NACC1 | c.920A>G (p.Tyr307Cys) | |
19 | g.13136127A>T | CA404326901 | NACC1 | c.920A>T (p.Tyr307Phe) | |
19 | g.13136128C>A | CA404326903 | NACC1 | c.921C>A (p.Tyr307Ter) | |
19 | g.13136128C= | CA2323741751 | NACC1 | c.921C= (p.Tyr307=) | |
19 | g.13136128C>G | CA404326905 | NACC1 | c.921C>G (p.Tyr307Ter) | |
19 | g.13136128C>T | CA505783167 | NACC1 | c.921C>T (p.Tyr307=) | dbSNP |
19 | g.13136129A>C | CA404326910 | NACC1 | c.922A>C (p.Ser308Arg) | |
19 | g.13136129A>G | CA404326908 | NACC1 | c.922A>G (p.Ser308Gly) | |
19 | g.13136129A>T | CA404326907 | NACC1 | c.922A>T (p.Ser308Cys) | |
19 | g.13136130G>A | CA404326912 | NACC1 | c.923G>A (p.Ser308Asn) | |
19 | g.13136130G>C | CA404326914 | NACC1 | c.923G>C (p.Ser308Thr) | |
19 | g.13136130G>T | CA404326913 | NACC1 | c.923G>T (p.Ser308Ile) | |
19 | g.13136131C>A | CA404326916 | NACC1 | c.924C>A (p.Ser308Arg) | |
19 | g.13136131C= | CA2323741752 | NACC1 | c.924C= (p.Ser308=) | |
19 | g.13136131C>G | CA404326917 | NACC1 | c.924C>G (p.Ser308Arg) | |
19 | g.13136131C>T | CA505783172 | NACC1 | c.924C>T (p.Ser308=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136132A= | CA2323741753 | NACC1 | c.925A= (p.Met309=) | |
19 | g.13136132A>C | CA404326920 | NACC1 | c.925A>C (p.Met309Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136132A>G | CA404326922 | NACC1 | c.925A>G (p.Met309Val) | gnomAD v4 |
19 | g.13136132A>T | CA404326923 | NACC1 | c.925A>T (p.Met309Leu) | |
19 | g.13136133T>A | CA404326925 | NACC1 | c.926T>A (p.Met309Lys) | |
19 | g.13136133T>C | CA404326927 | NACC1 | c.926T>C (p.Met309Thr) | |
19 | g.13136133T>G | CA404326929 | NACC1 | c.926T>G (p.Met309Arg) | |
19 | g.13136134G>A | CA404326930 | NACC1 | c.927G>A (p.Met309Ile) | |
19 | g.13136134G>C | CA404326932 | NACC1 | c.927G>C (p.Met309Ile) | |
19 | g.13136134G>T | CA404326934 | NACC1 | c.927G>T (p.Met309Ile) | |
19 | g.13136135A>C | CA404326940 | NACC1 | c.928A>C (p.Met310Leu) | |
19 | g.13136135A>G | CA404326938 | NACC1 | c.928A>G (p.Met310Val) | |
19 | g.13136135A>T | CA404326936 | NACC1 | c.928A>T (p.Met310Leu) | |
19 | g.13136136T>A | CA404326942 | NACC1 | c.929T>A (p.Met310Lys) | |
19 | g.13136136T>C | CA404326944 | NACC1 | c.929T>C (p.Met310Thr) | |
19 | g.13136136T>G | CA404326946 | NACC1 | c.929T>G (p.Met310Arg) | |
19 | g.13136137G>A | CA404326948 | NACC1 | c.930G>A (p.Met310Ile) | gnomAD v4 |
19 | g.13136137G>C | CA404326950 | NACC1 | c.930G>C (p.Met310Ile) | |
19 | g.13136137G>T | CA404326952 | NACC1 | c.930G>T (p.Met310Ile) | |
19 | g.13136138A>C | CA404326954 | NACC1 | c.931A>C (p.Asn311His) | |
19 | g.13136138A>G | CA404326955 | NACC1 | c.931A>G (p.Asn311Asp) | gnomAD v4 |
19 | g.13136138A>T | CA404326957 | NACC1 | c.931A>T (p.Asn311Tyr) | |
19 | g.13136139A>C | CA404326959 | NACC1 | c.932A>C (p.Asn311Thr) | |
19 | g.13136139A>G | CA404326960 | NACC1 | c.932A>G (p.Asn311Ser) | |
19 | g.13136139A>T | CA404326962 | NACC1 | c.932A>T (p.Asn311Ile) | COSMIC |
19 | g.13136140C>A | CA404326967 | NACC1 | c.933C>A (p.Asn311Lys) | |
19 | g.13136140C= | CA2323741754 | NACC1 | c.933C= (p.Asn311=) | |
19 | g.13136140C>G | CA404326965 | NACC1 | c.933C>G (p.Asn311Lys) | |
19 | g.13136140C>T | CA9238341 | NACC1 | c.933C>T (p.Asn311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136141G>A | CA404326969 | NACC1 | c.934G>A (p.Val312Ile) | gnomAD v4 |
19 | g.13136141G>C | CA404326971 | NACC1 | c.934G>C (p.Val312Leu) | gnomAD v4 |
19 | g.13136141G>T | CA404326972 | NACC1 | c.934G>T (p.Val312Phe) | |
19 | g.13136142T>A | CA404326974 | NACC1 | c.935T>A (p.Val312Asp) | |
19 | g.13136142T>C | CA404326976 | NACC1 | c.935T>C (p.Val312Ala) | |
19 | g.13136142T>G | CA404326977 | NACC1 | c.935T>G (p.Val312Gly) | |
19 | g.13136143C>A | CA505783198 | NACC1 | c.936C>A (p.Val312=) | |
19 | g.13136143C= | CA2323741755 | NACC1 | c.936C= (p.Val312=) | |
19 | g.13136143C>G | CA505783200 | NACC1 | c.936C>G (p.Val312=) | |
19 | g.13136143C>T | CA9238342 | NACC1 | c.936C>T (p.Val312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136144G>A | CA9238343 | NACC1 | c.937G>A (p.Gly313Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136144G>C | CA404326981 | NACC1 | c.937G>C (p.Gly313Arg) | gnomAD v4 |
19 | g.13136144G= | CA2323741756 | NACC1 | c.937G= (p.Gly313=) | |
19 | g.13136144G>T | CA404326982 | NACC1 | c.937G>T (p.Gly313Cys) | |
19 | g.13136145G>A | CA404326983 | NACC1 | c.938G>A (p.Gly313Asp) | gnomAD v4 |
19 | g.13136145G>C | CA404326984 | NACC1 | c.938G>C (p.Gly313Ala) | dbSNP |
19 | g.13136145G= | CA2323741757 | NACC1 | c.938G= (p.Gly313=) | |
19 | g.13136145G>T | CA404326986 | NACC1 | c.938G>T (p.Gly313Val) | |
19 | g.13136146C>A | CA505783204 | NACC1 | c.939C>A (p.Gly313=) | |
19 | g.13136146C>G | CA505783205 | NACC1 | c.939C>G (p.Gly313=) | |
19 | g.13136146C>T | CA505783206 | NACC1 | c.939C>T (p.Gly313=) | gnomAD v4 |
19 | g.13136147C>A | CA404326992 | NACC1 | c.940C>A (p.Gln314Lys) | |
19 | g.13136147C>G | CA404326988 | NACC1 | c.940C>G (p.Gln314Glu) | |
19 | g.13136147C>T | CA404326990 | NACC1 | c.940C>T (p.Gln314Ter) | |
19 | g.13136148A>C | CA404326994 | NACC1 | c.941A>C (p.Gln314Pro) | |
19 | g.13136148A>G | CA404326996 | NACC1 | c.941A>G (p.Gln314Arg) | gnomAD v4 |
19 | g.13136148A>T | CA404326998 | NACC1 | c.941A>T (p.Gln314Leu) | |
19 | g.13136149G>A | CA505783210 | NACC1 | c.942G>A (p.Gln314=) | |
19 | g.13136149G>C | CA404327000 | NACC1 | c.942G>C (p.Gln314His) | |
19 | g.13136149G>T | CA404327002 | NACC1 | c.942G>T (p.Gln314His) | |
19 | g.13136150A>C | CA404327004 | NACC1 | c.943A>C (p.Thr315Pro) | |
19 | g.13136150A>G | CA404327006 | NACC1 | c.943A>G (p.Thr315Ala) | |
19 | g.13136150A>T | CA404327007 | NACC1 | c.943A>T (p.Thr315Ser) | |
19 | g.13136150_13136228delinsACAGGTGAGGTGCCGTCCTGTCCCCCATCCCACCAGCCACCCCTGCTCCTCCTGCCACTCGCGTGCCACTCTCTCCCTG | CA2323741758 | NACC1 | c.943_947-4delinsACAGGTGAGGTGCCGTCCTGTCCCCCATCCCACCAGCCACCCCTGCTCCTCCTGCCACTCGCGTGCCACTCTCTCCCTG | |
19 | g.13136151C>A | CA404327010 | NACC1 | c.944C>A (p.Thr315Lys) | gnomAD v4 |
19 | g.13136151C>G | CA404327011 | NACC1 | c.944C>G (p.Thr315Arg) | |
19 | g.13136151C>T | CA404327013 | NACC1 | c.944C>T (p.Thr315Ile) | |
19 | g.13136154_13136231del | CA9238344 | NACC1 | c.946+1_947-1del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |