| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.42839200C>A | CA371107685 | THAP1 | c.253G>T (p.Glu85Ter) c.72-864G>T (n.72-864G>T) | |
| 8 | g.42839200C>G | CA371107683 | THAP1 | c.253G>C (p.Glu85Gln) c.72-864G>C (n.72-864G>C) | |
| 8 | g.42839200C>T | CA371107684 | THAP1 | c.253G>A (p.Glu85Lys) c.72-864G>A (n.72-864G>A) | COSMIC |
| 8 | g.42839201A= | CA1779608125 | THAP1 | c.252T= (p.Thr84=) c.72-865T= (n.72-865T=) | |
| 8 | g.42839201A>C | CA460569077 | THAP1 | c.252T>G (p.Thr84=) c.72-865T>G (n.72-865T>G) | |
| 8 | g.42839201A>G | CA4734580 | THAP1 | c.252T>C (p.Thr84=) c.72-865T>C (n.72-865T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839201A>T | CA460569078 | THAP1 | c.252T>A (p.Thr84=) c.72-865T>A (n.72-865T>A) | |
| 8 | g.42839202G>A | CA4734581 | THAP1 | c.251C>T (p.Thr84Ile) c.72-866C>T (n.72-866C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839202G>C | CA371107686 | THAP1 | c.251C>G (p.Thr84Ser) c.72-866C>G (n.72-866C>G) | dbSNP gnomAD v4 |
| 8 | g.42839202G= | CA1779608126 | THAP1 | c.251C= (p.Thr84=) c.72-866C= (n.72-866C=) | |
| 8 | g.42839202G>T | CA371107687 | THAP1 | c.251C>A (p.Thr84Asn) c.72-866C>A (n.72-866C>A) | |
| 8 | g.42839203T>A | CA371107690 | THAP1 | c.250A>T (p.Thr84Ser) c.72-867A>T (n.72-867A>T) | |
| 8 | g.42839203T>C | CA371107688 | THAP1 | c.250A>G (p.Thr84Ala) c.72-867A>G (n.72-867A>G) | |
| 8 | g.42839203T>G | CA371107689 | THAP1 | c.250A>C (p.Thr84Pro) c.72-867A>C (n.72-867A>C) | |
| 8 | g.42839204A>C | CA371107691 | THAP1 | c.249T>G (p.Cys83Trp) c.72-868T>G (n.72-868T>G) | |
| 8 | g.42839204A>G | CA460569079 | THAP1 | c.249T>C (p.Cys83=) c.72-868T>C (n.72-868T>C) | |
| 8 | g.42839204A>T | CA371107692 | THAP1 | c.249T>A (p.Cys83Ter) c.72-868T>A (n.72-868T>A) | |
| 8 | g.42839205C>A | CA371107693 | THAP1 | c.248G>T (p.Cys83Phe) c.72-869G>T (n.72-869G>T) | dbSNP gnomAD v4 |
| 8 | g.42839205C= | CA1779608127 | THAP1 | c.248G= (p.Cys83=) c.72-869G= (n.72-869G=) | |
| 8 | g.42839205C>G | CA371107694 | THAP1 | c.248G>C (p.Cys83Ser) c.72-869G>C (n.72-869G>C) | |
| 8 | g.42839205C>T | CA371107695 | THAP1 | c.248G>A (p.Cys83Tyr) c.72-869G>A (n.72-869G>A) | |
| 8 | g.42839206A= | CA1779608128 | THAP1 | c.247T= (p.Cys83=) c.72-870T= (n.72-870T=) | |
| 8 | g.42839206A>C | CA371107696 | THAP1 | c.247T>G (p.Cys83Gly) c.72-870T>G (n.72-870T>G) | |
| 8 | g.42839206A>G | CA4734582 | THAP1 | c.247T>C (p.Cys83Arg) c.72-870T>C (n.72-870T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839206A>T | CA371107697 | THAP1 | c.247T>A (p.Cys83Ser) c.72-870T>A (n.72-870T>A) | |
| 8 | g.42839207A>C | CA460569082 | THAP1 | c.246T>G (p.Leu82=) c.72-871T>G (n.72-871T>G) | |
| 8 | g.42839207A>G | CA460569081 | THAP1 | c.246T>C (p.Leu82=) c.72-871T>C (n.72-871T>C) | |
| 8 | g.42839207A>T | CA460569080 | THAP1 | c.246T>A (p.Leu82=) c.72-871T>A (n.72-871T>A) | |
| 8 | g.42839208A= | CA1779608129 | THAP1 | c.245T= (p.Leu82=) c.72-872T= (n.72-872T=) n.475T= | |
| 8 | g.42839208A>C | CA371107698 | THAP1 | c.245T>G (p.Leu82Arg) c.72-872T>G (n.72-872T>G) n.475T>G | |
| 8 | g.42839208A>G | CA4734583 | THAP1 | c.245T>C (p.Leu82Pro) c.72-872T>C (n.72-872T>C) n.475T>C | dbSNP ExAC |
| 8 | g.42839208A>T | CA371107699 | THAP1 | c.245T>A (p.Leu82His) c.72-872T>A (n.72-872T>A) n.475T>A | |
| 8 | g.42839209G>A | CA371107700 | THAP1 | c.244C>T (p.Leu82Phe) c.72-873C>T (n.72-873C>T) n.474C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.42839209G>C | CA371107701 | THAP1 | c.244C>G (p.Leu82Val) c.72-873C>G (n.72-873C>G) n.474C>G | |
| 8 | g.42839209G= | CA1779608130 | THAP1 | c.244C= (p.Leu82=) c.72-873C= (n.72-873C=) n.474C= | |
| 8 | g.42839209G>T | CA4734584 | THAP1 | c.244C>A (p.Leu82Ile) c.72-873C>A (n.72-873C>A) n.474C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.42839210A>C | CA371107702 | THAP1 | c.243T>G (p.Phe81Leu) c.72-874T>G (n.72-874T>G) n.473T>G | |
| 8 | g.42839210A>G | CA460569083 | THAP1 | c.243T>C (p.Phe81=) c.72-874T>C (n.72-874T>C) n.473T>C | gnomAD v4 |
| 8 | g.42839210A>T | CA371107703 | THAP1 | c.243T>A (p.Phe81Leu) c.72-874T>A (n.72-874T>A) n.473T>A | |
| 8 | g.42839211A= | CA1779608131 | THAP1 | c.242T= (p.Phe81=) c.72-875T= (n.72-875T=) n.472T= | |
| 8 | g.42839211A>C | CA371107704 | THAP1 | c.242T>G (p.Phe81Cys) c.72-875T>G (n.72-875T>G) n.472T>G | dbSNP |
| 8 | g.42839211A>G | CA371107705 | THAP1 | c.242T>C (p.Phe81Ser) c.72-875T>C (n.72-875T>C) n.472T>C | |
| 8 | g.42839211A>T | CA371107706 | THAP1 | c.242T>A (p.Phe81Tyr) c.72-875T>A (n.72-875T>A) n.472T>A | |
| 8 | g.42839212A= | CA1779608132 | THAP1 | c.241T= (p.Phe81=) c.72-876T= (n.72-876T=) n.471T= | |
| 8 | g.42839212A>C | CA371107708 | THAP1 | c.241T>G (p.Phe81Val) c.72-876T>G (n.72-876T>G) n.471T>G | ClinVar |
| 8 | g.42839212A>G | CA115121 | THAP1 | c.241T>C (p.Phe81Leu) c.72-876T>C (n.72-876T>C) n.471T>C | ClinVar dbSNP |
| 8 | g.42839212A>T | CA371107707 | THAP1 | c.241T>A (p.Phe81Ile) c.72-876T>A (n.72-876T>A) n.471T>A | |
| 8 | g.42839213T>A | CA460569084 | THAP1 | c.240A>T (p.Ile80=) c.72-877A>T (n.72-877A>T) n.470A>T | |
| 8 | g.42839213T>C | CA371107709 | THAP1 | c.240A>G (p.Ile80Met) c.72-877A>G (n.72-877A>G) n.470A>G | |
| 8 | g.42839213T>G | CA460569085 | THAP1 | c.240A>C (p.Ile80=) c.72-877A>C (n.72-877A>C) n.470A>C | |
| 8 | g.42839214A>C | CA371107710 | THAP1 | c.239T>G (p.Ile80Arg) c.72-878T>G (n.72-878T>G) n.469T>G | |
| 8 | g.42839214A>G | CA371107711 | THAP1 | c.239T>C (p.Ile80Thr) c.72-878T>C (n.72-878T>C) n.469T>C | |
| 8 | g.42839214A>T | CA371107712 | THAP1 | c.239T>A (p.Ile80Lys) c.72-878T>A (n.72-878T>A) n.469T>A | |
| 8 | g.42839215T>A | CA371107713 | THAP1 | c.238A>T (p.Ile80Leu) c.72-879A>T (n.72-879A>T) n.468A>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.42839215T>C | CA4734585 | THAP1 | c.238A>G (p.Ile80Val) c.72-879A>G (n.72-879A>G) n.468A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839215T>G | CA371107714 | THAP1 | c.238A>C (p.Ile80Leu) c.72-879A>C (n.72-879A>C) n.468A>C | |
| 8 | g.42839215T= | CA1779608133 | THAP1 | c.238A= (p.Ile80=) c.72-879A= (n.72-879A=) n.468A= | |
| 8 | g.42839216T>A | CA460569086 | THAP1 | c.237A>T (p.Thr79=) c.72-880A>T (n.72-880A>T) n.467A>T | |
| 8 | g.42839216T>C | CA460569087 | THAP1 | c.237A>G (p.Thr79=) c.72-880A>G (n.72-880A>G) n.467A>G | |
| 8 | g.42839216T>G | CA460569088 | THAP1 | c.237A>C (p.Thr79=) c.72-880A>C (n.72-880A>C) n.467A>C | |
| 8 | g.42839217del | CA2687126252 | THAP1 | c.236del (p.Thr79LysfsTer?) c.72-881del (n.72-881del) n.466del | gnomAD v4 |
| 8 | g.42839217G>A | CA371107715 | THAP1 | c.236C>T (p.Thr79Ile) c.72-881C>T (n.72-881C>T) n.466C>T | gnomAD v4 |
| 8 | g.42839217G>C | CA371107716 | THAP1 | c.236C>G (p.Thr79Arg) c.72-881C>G (n.72-881C>G) n.466C>G | |
| 8 | g.42839217G= | CA1779608134 | THAP1 | c.236C= (p.Thr79=) c.72-881C= (n.72-881C=) n.466C= | |
| 8 | g.42839217G>T | CA371107717 | THAP1 | c.236C>A (p.Thr79Lys) c.72-881C>A (n.72-881C>A) n.466C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.42839218T>A | CA371107718 | THAP1 | c.235A>T (p.Thr79Ser) c.72-882A>T (n.72-882A>T) n.465A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839218T>C | CA371107719 | THAP1 | c.235A>G (p.Thr79Ala) c.72-882A>G (n.72-882A>G) n.465A>G | COSMIC |
| 8 | g.42839218T>G | CA371107720 | THAP1 | c.235A>C (p.Thr79Pro) c.72-882A>C (n.72-882A>C) n.465A>C | |
| 8 | g.42839218T= | CA1779608135 | THAP1 | c.235A= (p.Thr79=) c.72-882A= (n.72-882A=) n.465A= | |
| 8 | g.42839219G>A | CA460569089 | THAP1 | c.234C>T (p.Pro78=) c.72-883C>T (n.72-883C>T) n.464C>T | |
| 8 | g.42839219G>C | CA460569090 | THAP1 | c.234C>G (p.Pro78=) c.72-883C>G (n.72-883C>G) n.464C>G | |
| 8 | g.42839219G>T | CA460569091 | THAP1 | c.234C>A (p.Pro78=) c.72-883C>A (n.72-883C>A) n.464C>A | |
| 8 | g.42839220G>A | CA371107723 | THAP1 | c.233C>T (p.Pro78Leu) c.72-884C>T (n.72-884C>T) n.463C>T | |
| 8 | g.42839220G>C | CA371107721 | THAP1 | c.233C>G (p.Pro78Arg) c.72-884C>G (n.72-884C>G) n.463C>G | |
| 8 | g.42839220G>T | CA371107722 | THAP1 | c.233C>A (p.Pro78His) c.72-884C>A (n.72-884C>A) n.463C>A | |
| 8 | g.42839221G>A | CA371107724 | THAP1 | c.232C>T (p.Pro78Ser) c.72-885C>T (n.72-885C>T) n.462C>T | |
| 8 | g.42839221G>C | CA371107725 | THAP1 | c.232C>G (p.Pro78Ala) c.72-885C>G (n.72-885C>G) n.462C>G | |
| 8 | g.42839221G>T | CA371107726 | THAP1 | c.232C>A (p.Pro78Thr) c.72-885C>A (n.72-885C>A) n.462C>A | |
| 8 | g.42839222C>A | CA460569092 | THAP1 | c.231G>T (p.Val77=) c.72-886G>T (n.72-886G>T) n.461G>T | |
| 8 | g.42839222C>G | CA460569093 | THAP1 | c.231G>C (p.Val77=) c.72-886G>C (n.72-886G>C) n.461G>C | |
| 8 | g.42839222C>T | CA460569094 | THAP1 | c.231G>A (p.Val77=) c.72-886G>A (n.72-886G>A) n.461G>A | |
| 8 | g.42839223A>C | CA371107727 | THAP1 | c.230T>G (p.Val77Gly) c.72-887T>G (n.72-887T>G) n.460T>G | |
| 8 | g.42839223A>G | CA371107728 | THAP1 | c.230T>C (p.Val77Ala) c.72-887T>C (n.72-887T>C) n.460T>C | |
| 8 | g.42839223A>T | CA371107729 | THAP1 | c.230T>A (p.Val77Glu) c.72-887T>A (n.72-887T>A) n.460T>A | |
| 8 | g.42839224C>A | CA371107730 | THAP1 | c.229G>T (p.Val77Leu) c.72-888G>T (n.72-888G>T) n.459G>T | |
| 8 | g.42839224C>G | CA371107731 | THAP1 | c.229G>C (p.Val77Leu) c.72-888G>C (n.72-888G>C) n.459G>C | dbSNP |
| 8 | g.42839224C>T | CA371107732 | THAP1 | c.229G>A (p.Val77Met) c.72-888G>A (n.72-888G>A) n.459G>A | |
| 8 | g.42839225A>C | CA460569097 | THAP1 | c.228T>G (p.Ala76=) c.72-889T>G (n.72-889T>G) n.458T>G | |
| 8 | g.42839225A>G | CA460569096 | THAP1 | c.228T>C (p.Ala76=) c.72-889T>C (n.72-889T>C) n.458T>C | |
| 8 | g.42839225A>T | CA460569095 | THAP1 | c.228T>A (p.Ala76=) c.72-889T>A (n.72-889T>A) n.458T>A | |
| 8 | g.42839226G>A | CA371107733 | THAP1 | c.227C>T (p.Ala76Val) c.72-890C>T (n.72-890C>T) n.457C>T | |
| 8 | g.42839226G>C | CA371107734 | THAP1 | c.227C>G (p.Ala76Gly) c.72-890C>G (n.72-890C>G) n.457C>G | dbSNP |
| 8 | g.42839226G= | CA1779608136 | THAP1 | c.227C= (p.Ala76=) c.72-890C= (n.72-890C=) n.457C= | |
| 8 | g.42839226G>T | CA371107735 | THAP1 | c.227C>A (p.Ala76Asp) c.72-890C>A (n.72-890C>A) n.457C>A | COSMIC |
| 8 | g.42839227C>A | CA371107738 | THAP1 | c.226G>T (p.Ala76Ser) c.72-891G>T (n.72-891G>T) n.456G>T | |
| 8 | g.42839227C>G | CA371107737 | THAP1 | c.226G>C (p.Ala76Pro) c.72-891G>C (n.72-891G>C) n.456G>C | |
| 8 | g.42839227C>T | CA371107736 | THAP1 | c.226G>A (p.Ala76Thr) c.72-891G>A (n.72-891G>A) n.456G>A | COSMIC |
| 8 | g.42839228A>C | CA371107739 | THAP1 | c.225T>G (p.Asn75Lys) c.72-892T>G (n.72-892T>G) n.455T>G | |
| 8 | g.42839228A>G | CA460569098 | THAP1 | c.225T>C (p.Asn75=) c.72-892T>C (n.72-892T>C) n.455T>C | gnomAD v4 |
| 8 | g.42839228A>T | CA371107740 | THAP1 | c.225T>A (p.Asn75Lys) c.72-892T>A (n.72-892T>A) n.455T>A | |
| 8 | g.42839229T>A | CA371107741 | THAP1 | c.224A>T (p.Asn75Ile) c.72-893A>T (n.72-893A>T) n.454A>T | |
| 8 | g.42839229T>C | CA4734586 | THAP1 | c.224A>G (p.Asn75Ser) c.72-893A>G (n.72-893A>G) n.454A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839229T>G | CA371107742 | THAP1 | c.224A>C (p.Asn75Thr) c.72-893A>C (n.72-893A>C) n.454A>C | |
| 8 | g.42839229T= | CA1779608137 | THAP1 | c.224A= (p.Asn75=) c.72-893A= (n.72-893A=) n.454A= | |
| 8 | g.42839230T>A | CA371107743 | THAP1 | c.223A>T (p.Asn75Tyr) c.72-894A>T (n.72-894A>T) n.453A>T | |
| 8 | g.42839230T>C | CA371107744 | THAP1 | c.223A>G (p.Asn75Asp) c.72-894A>G (n.72-894A>G) n.453A>G | |
| 8 | g.42839230T>G | CA371107745 | THAP1 | c.223A>C (p.Asn75His) c.72-894A>C (n.72-894A>C) n.453A>C | |
| 8 | g.42839231C>A | CA371107746 | THAP1 | c.222G>T (p.Glu74Asp) c.72-895G>T (n.72-895G>T) n.452G>T | |
| 8 | g.42839231C>G | CA371107747 | THAP1 | c.222G>C (p.Glu74Asp) c.72-895G>C (n.72-895G>C) n.452G>C | |
| 8 | g.42839231C>T | CA460569099 | THAP1 | c.222G>A (p.Glu74=) c.72-895G>A (n.72-895G>A) n.452G>A | |
| 8 | g.42839232T>A | CA371107748 | THAP1 | c.221A>T (p.Glu74Val) c.72-896A>T (n.72-896A>T) n.451A>T | |
| 8 | g.42839232T>C | CA371107749 | THAP1 | c.221A>G (p.Glu74Gly) c.72-896A>G (n.72-896A>G) n.451A>G | |
| 8 | g.42839232T>G | CA371107750 | THAP1 | c.221A>C (p.Glu74Ala) c.72-896A>C (n.72-896A>C) n.451A>C | |
| 8 | g.42839233C>A | CA371107751 | THAP1 | c.220G>T (p.Glu74Ter) c.72-897G>T (n.72-897G>T) n.450G>T | |
| 8 | g.42839233C>G | CA371107752 | THAP1 | c.220G>C (p.Glu74Gln) c.72-897G>C (n.72-897G>C) n.450G>C | |
| 8 | g.42839233C>T | CA371107753 | THAP1 | c.220G>A (p.Glu74Lys) c.72-897G>A (n.72-897G>A) n.450G>A | COSMIC |
| 8 | g.42839234T>A | CA371107755 | THAP1 | c.219A>T (p.Lys73Asn) c.72-898A>T (n.72-898A>T) n.449A>T | |
| 8 | g.42839234T>C | CA4734587 | THAP1 | c.219A>G (p.Lys73=) c.72-898A>G (n.72-898A>G) n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839234T>G | CA371107754 | THAP1 | c.219A>C (p.Lys73Asn) c.72-898A>C (n.72-898A>C) n.449A>C | |
| 8 | g.42839234T= | CA1779608138 | THAP1 | c.219A= (p.Lys73=) c.72-898A= (n.72-898A=) n.449A= | |
| 8 | g.42839235T>A | CA371107756 | THAP1 | c.218A>T (p.Lys73Ile) c.72-899A>T (n.72-899A>T) n.448A>T | |
| 8 | g.42839235T>C | CA371107757 | THAP1 | c.218A>G (p.Lys73Arg) c.72-899A>G (n.72-899A>G) n.448A>G | gnomAD v4 |
| 8 | g.42839235T>G | CA371107758 | THAP1 | c.218A>C (p.Lys73Thr) c.72-899A>C (n.72-899A>C) n.448A>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.42839235T= | CA1779608139 | THAP1 | c.218A= (p.Lys73=) c.72-899A= (n.72-899A=) n.448A= | |
| 8 | g.42839236T>A | CA371107759 | THAP1 | c.217A>T (p.Lys73Ter) c.72-900A>T (n.72-900A>T) n.447A>T | |
| 8 | g.42839236T>C | CA371107760 | THAP1 | c.217A>G (p.Lys73Glu) c.72-900A>G (n.72-900A>G) n.447A>G | |
| 8 | g.42839236T>G | CA371107761 | THAP1 | c.217A>C (p.Lys73Gln) c.72-900A>C (n.72-900A>C) n.447A>C | |
| 8 | g.42839237C>A | CA460569102 | THAP1 | c.216G>T (p.Leu72=) c.72-901G>T (n.72-901G>T) n.446G>T | |
| 8 | g.42839237C>G | CA460569100 | THAP1 | c.216G>C (p.Leu72=) c.72-901G>C (n.72-901G>C) n.446G>C | |
| 8 | g.42839237C>T | CA460569101 | THAP1 | c.216G>A (p.Leu72=) c.72-901G>A (n.72-901G>A) n.446G>A | gnomAD v4 |
| 8 | g.42839238A= | CA1779608140 | THAP1 | c.215T= (p.Leu72=) c.72-902T= (n.72-902T=) n.445T= | |
| 8 | g.42839238A>C | CA371107762 | THAP1 | c.215T>G (p.Leu72Arg) c.72-902T>G (n.72-902T>G) n.445T>G | |
| 8 | g.42839238A>G | CA371107763 | THAP1 | c.215T>C (p.Leu72Pro) c.72-902T>C (n.72-902T>C) n.445T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.42839238A>T | CA371107764 | THAP1 | c.215T>A (p.Leu72Gln) c.72-902T>A (n.72-902T>A) n.445T>A | COSMIC |
| 8 | g.42839238_42839239insT | CA2695209244 | THAP1 | c.214_215insA (p.Leu72HisfsTer14) c.72-903_72-902insA (n.72-903_72-902insA) n.444_445insA | |
| 8 | g.42839239G>A | CA460569103 | THAP1 | c.214C>T (p.Leu72=) c.72-903C>T (n.72-903C>T) n.444C>T | |
| 8 | g.42839239G>C | CA371107765 | THAP1 | c.214C>G (p.Leu72Val) c.72-903C>G (n.72-903C>G) n.444C>G | |
| 8 | g.42839239G= | CA1779608141 | THAP1 | c.214C= (p.Leu72=) c.72-903C= (n.72-903C=) n.444C= | |
| 8 | g.42839239G>T | CA371107766 | THAP1 | c.214C>A (p.Leu72Met) c.72-903C>A (n.72-903C>A) n.444C>A | |
| 8 | g.42839240T>A | CA371107768 | THAP1 | c.213A>T (p.Leu71Phe) c.72-904A>T (n.72-904A>T) n.443A>T | |
| 8 | g.42839240T>C | CA4734589 | THAP1 | c.213A>G (p.Leu71=) c.72-904A>G (n.72-904A>G) n.443A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839240T>G | CA371107767 | THAP1 | c.213A>C (p.Leu71Phe) c.72-904A>C (n.72-904A>C) n.443A>C | |
| 8 | g.42839240T= | CA1779608142 | THAP1 | c.213A= (p.Leu71=) c.72-904A= (n.72-904A=) n.443A= | |
| 8 | g.42839240dup | CA4734588 | THAP1 | c.213dup (p.Leu72ThrfsTer14) c.72-904dup (n.72-904dup) n.443dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839241A>C | CA371107769 | THAP1 | c.212T>G (p.Leu71Ter) c.72-905T>G (n.72-905T>G) n.442T>G | |
| 8 | g.42839241A>G | CA371107770 | THAP1 | c.212T>C (p.Leu71Ser) c.72-905T>C (n.72-905T>C) n.442T>C | gnomAD v4 |
| 8 | g.42839241A>T | CA371107771 | THAP1 | c.212T>A (p.Leu71Ter) c.72-905T>A (n.72-905T>A) n.442T>A | |
| 8 | g.42839242A>C | CA371107772 | THAP1 | c.211T>G (p.Leu71Val) c.72-906T>G (n.72-906T>G) n.441T>G | |
| 8 | g.42839242A>G | CA460569104 | THAP1 | c.211T>C (p.Leu71=) c.72-906T>C (n.72-906T>C) n.441T>C | |
| 8 | g.42839242A>T | CA371107773 | THAP1 | c.211T>A (p.Leu71Ile) c.72-906T>A (n.72-906T>A) n.441T>A | |
| 8 | g.42839243C>A | CA176034678 | THAP1 | c.210G>T (p.Lys70Asn) c.72-907G>T (n.72-907G>T) n.440G>T | dbSNP |
| 8 | g.42839243C= | CA1779608144 | THAP1 | c.210G= (p.Lys70=) c.72-907G= (n.72-907G=) n.440G= | |
| 8 | g.42839243C>G | CA371107774 | THAP1 | c.210G>C (p.Lys70Asn) c.72-907G>C (n.72-907G>C) n.440G>C | |
| 8 | g.42839243C>T | CA460569105 | THAP1 | c.210G>A (p.Lys70=) c.72-907G>A (n.72-907G>A) n.440G>A | |
| 8 | g.42839243_42839246delinsCTTG | CA1779608143 | THAP1 | c.207_210delinsCAAG (p.Asn69=) c.72-910_72-907delinsCAAG (n.72-910_72-907delinsCAAG) n.437_440delinsCAAG | |
| 8 | g.42839244T>A | CA371107775 | THAP1 | c.209A>T (p.Lys70Met) c.72-908A>T (n.72-908A>T) n.439A>T | |
| 8 | g.42839244T>C | CA371107776 | THAP1 | c.209A>G (p.Lys70Arg) c.72-908A>G (n.72-908A>G) n.439A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839244T>G | CA371107777 | THAP1 | c.209A>C (p.Lys70Thr) c.72-908A>C (n.72-908A>C) n.439A>C | |
| 8 | g.42839244T= | CA1779608145 | THAP1 | c.209A= (p.Lys70=) c.72-908A= (n.72-908A=) n.439A= | |
| 8 | g.42839244_42839245del | CA2695209245 | THAP1 | c.208_209del (p.Lys70ValfsTer15) c.72-909_72-908del (n.72-909_72-908del) n.438_439del | |
| 8 | g.42839250_42839252del | CA891842752 | THAP1 | c.207_209del (p.Asn69del) c.72-910_72-908del (n.72-910_72-908del) n.437_439del | ClinVar dbSNP |
| 8 | g.42839245T>A | CA371107778 | THAP1 | c.208A>T (p.Lys70Ter) c.72-909A>T (n.72-909A>T) n.438A>T | |
| 8 | g.42839245T>C | CA371107779 | THAP1 | c.208A>G (p.Lys70Glu) c.72-909A>G (n.72-909A>G) n.438A>G | |
| 8 | g.42839245T>G | CA371107780 | THAP1 | c.208A>C (p.Lys70Gln) c.72-909A>C (n.72-909A>C) n.438A>C | |
| 8 | g.42839246G>A | CA4734590 | THAP1 | c.207C>T (p.Asn69=) c.72-910C>T (n.72-910C>T) n.437C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839246G>C | CA371107782 | THAP1 | c.207C>G (p.Asn69Lys) c.72-910C>G (n.72-910C>G) n.437C>G | gnomAD v4 |
| 8 | g.42839246G= | CA1779608146 | THAP1 | c.207C= (p.Asn69=) c.72-910C= (n.72-910C=) n.437C= | |
| 8 | g.42839246G>T | CA371107781 | THAP1 | c.207C>A (p.Asn69Lys) c.72-910C>A (n.72-910C>A) n.437C>A | |
| 8 | g.42839247T>A | CA371107783 | THAP1 | c.206A>T (p.Asn69Ile) c.72-911A>T (n.72-911A>T) n.436A>T | |
| 8 | g.42839247T>C | CA371107784 | THAP1 | c.206A>G (p.Asn69Ser) c.72-911A>G (n.72-911A>G) n.436A>G | |
| 8 | g.42839247T>G | CA371107785 | THAP1 | c.206A>C (p.Asn69Thr) c.72-911A>C (n.72-911A>C) n.436A>C | |
| 8 | g.42839248T>A | CA371107786 | THAP1 | c.205A>T (p.Asn69Tyr) c.72-912A>T (n.72-912A>T) n.435A>T | |
| 8 | g.42839248T>C | CA371107787 | THAP1 | c.205A>G (p.Asn69Asp) c.72-912A>G (n.72-912A>G) n.435A>G | |
| 8 | g.42839248T>G | CA371107788 | THAP1 | c.205A>C (p.Asn69His) c.72-912A>C (n.72-912A>C) n.435A>C | |
| 8 | g.42839249G>A | CA460569106 | THAP1 | c.204C>T (p.Asn68=) c.72-913C>T (n.72-913C>T) n.434C>T | |
| 8 | g.42839249G>C | CA371107789 | THAP1 | c.204C>G (p.Asn68Lys) c.72-913C>G (n.72-913C>G) n.434C>G | |
| 8 | g.42839249G>T | CA371107790 | THAP1 | c.204C>A (p.Asn68Lys) c.72-913C>A (n.72-913C>A) n.434C>A | |
| 8 | g.42839250T>A | CA371107791 | THAP1 | c.203A>T (p.Asn68Ile) c.72-914A>T (n.72-914A>T) n.433A>T | |
| 8 | g.42839250T>C | CA371107792 | THAP1 | c.203A>G (p.Asn68Ser) c.72-914A>G (n.72-914A>G) n.433A>G | |
| 8 | g.42839250T>G | CA371107793 | THAP1 | c.203A>C (p.Asn68Thr) c.72-914A>C (n.72-914A>C) n.433A>C | |
| 8 | g.42839251T>A | CA371107796 | THAP1 | c.202A>T (p.Asn68Tyr) c.72-915A>T (n.72-915A>T) n.432A>T | |
| 8 | g.42839251T>C | CA371107795 | THAP1 | c.202A>G (p.Asn68Asp) c.72-915A>G (n.72-915A>G) n.432A>G | |
| 8 | g.42839251T>G | CA371107794 | THAP1 | c.202A>C (p.Asn68His) c.72-915A>C (n.72-915A>C) n.432A>C | |
| 8 | g.42839252G>A | CA460569107 | THAP1 | c.201C>T (p.Cys67=) c.72-916C>T (n.72-916C>T) n.431C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.42839252G>C | CA371107797 | THAP1 | c.201C>G (p.Cys67Trp) c.72-916C>G (n.72-916C>G) n.431C>G | |
| 8 | g.42839252G= | CA1779608147 | THAP1 | c.201C= (p.Cys67=) c.72-916C= (n.72-916C=) n.431C= | |
| 8 | g.42839252G>T | CA371107798 | THAP1 | c.201C>A (p.Cys67Ter) c.72-916C>A (n.72-916C>A) n.431C>A | |
| 8 | g.42839253C>A | CA4734591 | THAP1 | c.200G>T (p.Cys67Phe) c.72-917G>T (n.72-917G>T) n.430G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839253C= | CA1779608148 | THAP1 | c.200G= (p.Cys67=) c.72-917G= (n.72-917G=) n.430G= | |
| 8 | g.42839253C>G | CA371107799 | THAP1 | c.200G>C (p.Cys67Ser) c.72-917G>C (n.72-917G>C) n.430G>C | |
| 8 | g.42839253C>T | CA371107800 | THAP1 | c.200G>A (p.Cys67Tyr) c.72-917G>A (n.72-917G>A) n.430G>A | |
| 8 | g.42839254A>C | CA371107801 | THAP1 | c.199T>G (p.Cys67Gly) c.72-918T>G (n.72-918T>G) n.429T>G | |
| 8 | g.42839254A>G | CA371107802 | THAP1 | c.199T>C (p.Cys67Arg) c.72-918T>C (n.72-918T>C) n.429T>C | |
| 8 | g.42839254A>T | CA371107803 | THAP1 | c.199T>A (p.Cys67Ser) c.72-918T>A (n.72-918T>A) n.429T>A | |
| 8 | g.42839254_42839256delinsACT | CA1779608149 | THAP1 | c.197_199delinsAGT (p.Glu66=) c.72-920_72-918delinsAGT (n.72-920_72-918delinsAGT) n.427_429delinsAGT | |
| 8 | g.42839255C>A | CA371107804 | THAP1 | c.198G>T (p.Glu66Asp) c.72-919G>T (n.72-919G>T) n.428G>T | |
| 8 | g.42839255C>G | CA371107805 | THAP1 | c.198G>C (p.Glu66Asp) c.72-919G>C (n.72-919G>C) n.428G>C | |
| 8 | g.42839255C>T | CA460569108 | THAP1 | c.198G>A (p.Glu66=) c.72-919G>A (n.72-919G>A) n.428G>A | |
| 8 | g.42839261_42839262del | CA1139660495 | THAP1 | c.197_198del (p.Glu66ValfsTer19) c.72-920_72-919del (n.72-920_72-919del) n.427_428del | ClinVar dbSNP |
| 8 | g.42839256T>A | CA371107806 | THAP1 | c.197A>T (p.Glu66Val) c.72-920A>T (n.72-920A>T) n.427A>T | |
| 8 | g.42839256T>C | CA371107807 | THAP1 | c.197A>G (p.Glu66Gly) c.72-920A>G (n.72-920A>G) n.427A>G | |
| 8 | g.42839256T>G | CA371107808 | THAP1 | c.197A>C (p.Glu66Ala) c.72-920A>C (n.72-920A>C) n.427A>C | |
| 8 | g.42839257C>A | CA371107809 | THAP1 | c.196G>T (p.Glu66Ter) c.72-921G>T (n.72-921G>T) n.426G>T | |
| 8 | g.42839257C>G | CA371107810 | THAP1 | c.196G>C (p.Glu66Gln) c.72-921G>C (n.72-921G>C) n.426G>C | gnomAD v4 |
| 8 | g.42839257C>T | CA371107811 | THAP1 | c.196G>A (p.Glu66Lys) c.72-921G>A (n.72-921G>A) n.426G>A | |
| 8 | g.42839258T>A | CA371107812 | THAP1 | c.195A>T (p.Arg65Ser) c.72-922A>T (n.72-922A>T) n.425A>T | |
| 8 | g.42839258T>C | CA460569109 | THAP1 | c.195A>G (p.Arg65=) c.72-922A>G (n.72-922A>G) n.425A>G | |
| 8 | g.42839258T>G | CA371107813 | THAP1 | c.195A>C (p.Arg65Ser) c.72-922A>C (n.72-922A>C) n.425A>C | |
| 8 | g.42839259C>A | CA371107814 | THAP1 | c.194G>T (p.Arg65Ile) c.72-923G>T (n.72-923G>T) n.424G>T | |
| 8 | g.42839259C>G | CA371107815 | THAP1 | c.194G>C (p.Arg65Thr) c.72-923G>C (n.72-923G>C) n.424G>C | |
| 8 | g.42839259C>T | CA371107816 | THAP1 | c.194G>A (p.Arg65Lys) c.72-923G>A (n.72-923G>A) n.424G>A | |
| 8 | g.42839260T>A | CA371107818 | THAP1 | c.193A>T (p.Arg65Ter) c.72-924A>T (n.72-924A>T) n.423A>T | |
| 8 | g.42839260T>C | CA371107820 | THAP1 | c.193A>G (p.Arg65Gly) c.72-924A>G (n.72-924A>G) n.423A>G | gnomAD v4 |
| 8 | g.42839260T>G | CA460569110 | THAP1 | c.193A>C (p.Arg65=) c.72-924A>C (n.72-924A>C) n.423A>C | |
| 8 | g.42839261C>A | CA371107821 | THAP1 | c.192G>T (p.Lys64Asn) c.72-925G>T (n.72-925G>T) n.422G>T | |
| 8 | g.42839261C= | CA1779608150 | THAP1 | c.192G= (p.Lys64=) c.72-925G= (n.72-925G=) n.422G= | |
| 8 | g.42839261C>G | CA371107823 | THAP1 | c.192G>C (p.Lys64Asn) c.72-925G>C (n.72-925G>C) n.422G>C | |
| 8 | g.42839261C>T | CA4734592 | THAP1 | c.192G>A (p.Lys64=) c.72-925G>A (n.72-925G>A) n.422G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42839262T>A | CA371107826 | THAP1 | c.191A>T (p.Lys64Met) c.72-926A>T (n.72-926A>T) n.421A>T | |
| 8 | g.42839262T>C | CA371107828 | THAP1 | c.191A>G (p.Lys64Arg) c.72-926A>G (n.72-926A>G) n.421A>G | |
| 8 | g.42839262T>G | CA371107829 | THAP1 | c.191A>C (p.Lys64Thr) c.72-926A>C (n.72-926A>C) n.421A>C | |
| 8 | g.42839262_42839263del | CA2580078320 | THAP1 | c.190_191del (p.Lys64GlufsTer21) c.72-927_72-926del (n.72-927_72-926del) n.420_421del | ClinVar |
| 8 | g.42839263T>A | CA371107834 | THAP1 | c.190A>T (p.Lys64Ter) c.72-927A>T (n.72-927A>T) n.420A>T | |
| 8 | g.42839263T>C | CA371107832 | THAP1 | c.190A>G (p.Lys64Glu) c.72-927A>G (n.72-927A>G) n.420A>G | |
| 8 | g.42839263T>G | CA371107830 | THAP1 | c.190A>C (p.Lys64Gln) c.72-927A>C (n.72-927A>C) n.420A>C | |
| 8 | g.42839264A>C | CA371107836 | THAP1 | c.189T>G (p.Phe63Leu) c.72-928T>G (n.72-928T>G) n.419T>G | |
| 8 | g.42839264A>G | CA460569111 | THAP1 | c.189T>C (p.Phe63=) c.72-928T>C (n.72-928T>C) n.419T>C | |
| 8 | g.42839264A>T | CA371107838 | THAP1 | c.189T>A (p.Phe63Leu) c.72-928T>A (n.72-928T>A) n.419T>A | COSMIC |
| 8 | g.42839265A>C | CA371107840 | THAP1 | c.188T>G (p.Phe63Cys) c.72-929T>G (n.72-929T>G) n.418T>G | |
| 8 | g.42839265A>G | CA371107841 | THAP1 | c.188T>C (p.Phe63Ser) c.72-929T>C (n.72-929T>C) n.418T>C | |
| 8 | g.42839265A>T | CA371107843 | THAP1 | c.188T>A (p.Phe63Tyr) c.72-929T>A (n.72-929T>A) n.418T>A | |
| 8 | g.42839266A= | CA1779608151 | THAP1 | c.187T= (p.Phe63=) c.72-930T= (n.72-930T=) n.417T= | |
| 8 | g.42839266A>C | CA371107848 | THAP1 | c.187T>G (p.Phe63Val) c.72-930T>G (n.72-930T>G) n.417T>G | dbSNP |
| 8 | g.42839266A>G | CA371107846 | THAP1 | c.187T>C (p.Phe63Leu) c.72-930T>C (n.72-930T>C) n.417T>C | |
| 8 | g.42839266A>T | CA371107845 | THAP1 | c.187T>A (p.Phe63Ile) c.72-930T>A (n.72-930T>A) n.417T>A | |
| 8 | g.42839267G>A | CA4734593 | THAP1 | c.186C>T (p.Cys62=) c.72-931C>T (n.72-931C>T) n.416C>T | dbSNP ExAC gnomAD v2 |
| 8 | g.42839267G>C | CA371107850 | THAP1 | c.186C>G (p.Cys62Trp) c.72-931C>G (n.72-931C>G) n.416C>G | |
| 8 | g.42839267G= | CA1779608152 | THAP1 | c.186C= (p.Cys62=) c.72-931C= (n.72-931C=) n.416C= | |
| 8 | g.42839267G>T | CA371107851 | THAP1 | c.186C>A (p.Cys62Ter) c.72-931C>A (n.72-931C>A) n.416C>A | |
| 8 | g.42839268C>A | CA371107854 | THAP1 | c.185G>T (p.Cys62Phe) c.72-932G>T (n.72-932G>T) n.415G>T | |
| 8 | g.42839268C>G | CA371107856 | THAP1 | c.185G>C (p.Cys62Ser) c.72-932G>C (n.72-932G>C) n.415G>C | |
| 8 | g.42839268C>T | CA371107857 | THAP1 | c.185G>A (p.Cys62Tyr) c.72-932G>A (n.72-932G>A) n.415G>A | |
| 8 | g.42839269A>C | CA371107859 | THAP1 | c.184T>G (p.Cys62Gly) c.72-933T>G (n.72-933T>G) n.414T>G | |
| 8 | g.42839269A>G | CA371107863 | THAP1 | c.184T>C (p.Cys62Arg) c.72-933T>C (n.72-933T>C) n.414T>C | |
| 8 | g.42839269A>T | CA371107861 | THAP1 | c.184T>A (p.Cys62Ser) c.72-933T>A (n.72-933T>A) n.414T>A | |
| 8 | g.42839270G>A | CA460569112 | THAP1 | c.183C>T (p.Asp61=) c.72-934C>T (n.72-934C>T) n.413C>T | dbSNP |
| 8 | g.42839270G>C | CA371107864 | THAP1 | c.183C>G (p.Asp61Glu) c.72-934C>G (n.72-934C>G) n.413C>G | |
| 8 | g.42839270G= | CA1779608153 | THAP1 | c.183C= (p.Asp61=) c.72-934C= (n.72-934C=) n.413C= | |
| 8 | g.42839270G>T | CA371107866 | THAP1 | c.183C>A (p.Asp61Glu) c.72-934C>A (n.72-934C>A) n.413C>A | |
| 8 | g.42839271T>A | CA371107869 | THAP1 | c.182A>T (p.Asp61Val) c.72-935A>T (n.72-935A>T) n.412A>T | |
| 8 | g.42839271T>C | CA371107870 | THAP1 | c.182A>G (p.Asp61Gly) c.72-935A>G (n.72-935A>G) n.412A>G | |
| 8 | g.42839271T>G | CA371107871 | THAP1 | c.182A>C (p.Asp61Ala) c.72-935A>C (n.72-935A>C) n.412A>C | |
| 8 | g.42839272C>A | CA371107873 | THAP1 | c.181G>T (p.Asp61Tyr) c.72-936G>T (n.72-936G>T) n.411G>T | |
| 8 | g.42839272C= | CA1779608154 | THAP1 | c.181G= (p.Asp61=) c.72-936G= (n.72-936G=) n.411G= | |
| 8 | g.42839272C>G | CA371107875 | THAP1 | c.181G>C (p.Asp61His) c.72-936G>C (n.72-936G>C) n.411G>C | |
| 8 | g.42839272C>T | CA371107877 | THAP1 | c.181G>A (p.Asp61Asn) c.72-936G>A (n.72-936G>A) n.411G>A | dbSNP |
| 8 | g.42839273T>A | CA460569113 | THAP1 | c.180A>T (p.Pro60=) c.72-937A>T (n.72-937A>T) n.410A>T | |
| 8 | g.42839273T>C | CA460569114 | THAP1 | c.180A>G (p.Pro60=) c.72-937A>G (n.72-937A>G) n.410A>G | |
| 8 | g.42839273T>G | CA460569115 | THAP1 | c.180A>C (p.Pro60=) c.72-937A>C (n.72-937A>C) n.410A>C | |
| 8 | g.42839274G>A | CA371107878 | THAP1 | c.179C>T (p.Pro60Leu) c.72-938C>T (n.72-938C>T) n.409C>T | |
| 8 | g.42839274G>C | CA371107879 | THAP1 | c.179C>G (p.Pro60Arg) c.72-938C>G (n.72-938C>G) n.409C>G | |
| 8 | g.42839274G>T | CA371107881 | THAP1 | c.179C>A (p.Pro60Gln) c.72-938C>A (n.72-938C>A) n.409C>A | |
| 8 | g.42839275G>A | CA371107886 | THAP1 | c.178C>T (p.Pro60Ser) c.72-939C>T (n.72-939C>T) n.408C>T | |
| 8 | g.42839275G>C | CA4734594 | THAP1 | c.178C>G (p.Pro60Ala) c.72-939C>G (n.72-939C>G) n.408C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839275G= | CA1779608155 | THAP1 | c.178C= (p.Pro60=) c.72-939C= (n.72-939C=) n.408C= | |
| 8 | g.42839275G>T | CA371107883 | THAP1 | c.178C>A (p.Pro60Thr) c.72-939C>A (n.72-939C>A) n.408C>A | |
| 8 | g.42839276A>C | CA460569116 | THAP1 | c.177T>G (p.Thr59=) c.72-940T>G (n.72-940T>G) n.407T>G | |
| 8 | g.42839276A>G | CA460569117 | THAP1 | c.177T>C (p.Thr59=) c.72-940T>C (n.72-940T>C) n.407T>C | |
| 8 | g.42839276A>T | CA460569118 | THAP1 | c.177T>A (p.Thr59=) c.72-940T>A (n.72-940T>A) n.407T>A | |
| 8 | g.42839277del | CA2579157309 | THAP1 | c.176del (p.Thr59IlefsTer14) c.72-941del (n.72-941del) n.406del | |
| 8 | g.42839277G>A | CA371107887 | THAP1 | c.176C>T (p.Thr59Ile) c.72-941C>T (n.72-941C>T) n.406C>T | |
| 8 | g.42839277G>C | CA4734595 | THAP1 | c.176C>G (p.Thr59Ser) c.72-941C>G (n.72-941C>G) n.406C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42839277G= | CA1779608156 | THAP1 | c.176C= (p.Thr59=) c.72-941C= (n.72-941C=) n.406C= | |
| 8 | g.42839277G>T | CA371107888 | THAP1 | c.176C>A (p.Thr59Asn) c.72-941C>A (n.72-941C>A) n.406C>A | |
| 8 | g.42839278T>A | CA371107892 | THAP1 | c.175A>T (p.Thr59Ser) c.72-942A>T (n.72-942A>T) n.405A>T | gnomAD v4 |
| 8 | g.42839278T>C | CA371107895 | THAP1 | c.175A>G (p.Thr59Ala) c.72-942A>G (n.72-942A>G) n.405A>G | |
| 8 | g.42839278T>G | CA371107893 | THAP1 | c.175A>C (p.Thr59Pro) c.72-942A>C (n.72-942A>C) n.405A>C | |
| 8 | g.42839279A>C | CA371107897 | THAP1 | c.174T>G (p.Phe58Leu) c.72-943T>G (n.72-943T>G) n.404T>G | |
| 8 | g.42839279A>G | CA460569119 | THAP1 | c.174T>C (p.Phe58=) c.72-943T>C (n.72-943T>C) n.404T>C | |
| 8 | g.42839279A>T | CA371107898 | THAP1 | c.174T>A (p.Phe58Leu) c.72-943T>A (n.72-943T>A) n.404T>A | |
| 8 | g.42839281del | CA2695209246 | THAP1 | c.174del (p.Phe58LeufsTer15) c.72-943del (n.72-943del) n.404del | |
| 8 | g.42839280A>C | CA371107899 | THAP1 | c.173T>G (p.Phe58Cys) c.72-944T>G (n.72-944T>G) n.403T>G | |
| 8 | g.42839280A>G | CA371107902 | THAP1 | c.173T>C (p.Phe58Ser) c.72-944T>C (n.72-944T>C) n.403T>C | |
| 8 | g.42839280A>T | CA371107900 | THAP1 | c.173T>A (p.Phe58Tyr) c.72-944T>A (n.72-944T>A) n.403T>A | |
| 8 | g.42839281A>C | CA371107905 | THAP1 | c.172T>G (p.Phe58Val) c.72-945T>G (n.72-945T>G) n.402T>G | |
| 8 | g.42839281A>G | CA371107906 | THAP1 | c.172T>C (p.Phe58Leu) c.72-945T>C (n.72-945T>C) n.402T>C | |
| 8 | g.42839281A>T | CA371107908 | THAP1 | c.172T>A (p.Phe58Ile) c.72-945T>A (n.72-945T>A) n.402T>A | |
| 8 | g.42839282G>A | CA460569120 | THAP1 | c.171C>T (p.His57=) c.72-946C>T (n.72-946C>T) n.401C>T | |
| 8 | g.42839282G>C | CA371107910 | THAP1 | c.171C>G (p.His57Gln) c.72-946C>G (n.72-946C>G) n.401C>G | |
| 8 | g.42839282G>T | CA371107912 | THAP1 | c.171C>A (p.His57Gln) c.72-946C>A (n.72-946C>A) n.401C>A | |
| 8 | g.42839283T>A | CA371107914 | THAP1 | c.170A>T (p.His57Leu) c.72-947A>T (n.72-947A>T) n.400A>T | |
| 8 | g.42839283T>C | CA371107915 | THAP1 | c.170A>G (p.His57Arg) c.72-947A>G (n.72-947A>G) n.400A>G | |
| 8 | g.42839283T>G | CA371107917 | THAP1 | c.170A>C (p.His57Pro) c.72-947A>C (n.72-947A>C) n.400A>C | |
| 8 | g.42839284G>A | CA371107919 | THAP1 | c.169C>T (p.His57Tyr) c.72-948C>T (n.72-948C>T) n.399C>T | |
| 8 | g.42839284G>C | CA371107921 | THAP1 | c.169C>G (p.His57Asp) c.72-948C>G (n.72-948C>G) n.399C>G | |
| 8 | g.42839284G>T | CA371107922 | THAP1 | c.169C>A (p.His57Asn) c.72-948C>A (n.72-948C>A) n.399C>A | |
| 8 | g.42839285C>A | CA371107926 | THAP1 | c.168G>T (p.Glu56Asp) c.72-949G>T (n.72-949G>T) n.398G>T | |
| 8 | g.42839285C>G | CA371107925 | THAP1 | c.168G>C (p.Glu56Asp) c.72-949G>C (n.72-949G>C) n.398G>C | |
| 8 | g.42839285C>T | CA460569121 | THAP1 | c.168G>A (p.Glu56=) c.72-949G>A (n.72-949G>A) n.398G>A | |
| 8 | g.42839286T>A | CA371107927 | THAP1 | c.167A>T (p.Glu56Val) c.72-950A>T (n.72-950A>T) n.397A>T | |
| 8 | g.42839286T>C | CA371107928 | THAP1 | c.167A>G (p.Glu56Gly) c.72-950A>G (n.72-950A>G) n.397A>G | |
| 8 | g.42839286T>G | CA371107929 | THAP1 | c.167A>C (p.Glu56Ala) c.72-950A>C (n.72-950A>C) n.397A>C | |
| 8 | g.42839287C>A | CA371107931 | THAP1 | c.166G>T (p.Glu56Ter) c.72-951G>T (n.72-951G>T) n.396G>T | |
| 8 | g.42839287C>G | CA371107933 | THAP1 | c.166G>C (p.Glu56Gln) c.72-951G>C (n.72-951G>C) n.396G>C | |
| 8 | g.42839287C>T | CA371107934 | THAP1 | c.166G>A (p.Glu56Lys) c.72-951G>A (n.72-951G>A) n.396G>A | |
| 8 | g.42839288T>A | CA460569122 | THAP1 | c.165A>T (p.Ser55=) c.72-952A>T (n.72-952A>T) n.395A>T | gnomAD v4 |
| 8 | g.42839288T>C | CA460569123 | THAP1 | c.165A>G (p.Ser55=) c.72-952A>G (n.72-952A>G) n.395A>G | |
| 8 | g.42839288T>G | CA460569124 | THAP1 | c.165A>C (p.Ser55=) c.72-952A>C (n.72-952A>C) n.395A>C | |
| 8 | g.42839289G>A | CA371107937 | THAP1 | c.164C>T (p.Ser55Leu) c.72-953C>T (n.72-953C>T) n.394C>T | ClinVar dbSNP |
| 8 | g.42839289G>C | CA371107939 | THAP1 | c.164C>G (p.Ser55Ter) c.72-953C>G (n.72-953C>G) n.394C>G | |
| 8 | g.42839289G= | CA1779608157 | THAP1 | c.164C= (p.Ser55=) c.72-953C= (n.72-953C=) n.394C= | |
| 8 | g.42839289G>T | CA371107940 | THAP1 | c.164C>A (p.Ser55Ter) c.72-953C>A (n.72-953C>A) n.394C>A | dbSNP |
| 8 | g.42839290A>C | CA371107942 | THAP1 | c.163T>G (p.Ser55Ala) c.72-954T>G (n.72-954T>G) n.393T>G | |
| 8 | g.42839290A>G | CA371107943 | THAP1 | c.163T>C (p.Ser55Pro) c.72-954T>C (n.72-954T>C) n.393T>C | |
| 8 | g.42839290A>T | CA371107945 | THAP1 | c.163T>A (p.Ser55Thr) c.72-954T>A (n.72-954T>A) n.393T>A | |
| 8 | g.42839291A>C | CA371107946 | THAP1 | c.162T>G (p.Cys54Trp) c.72-955T>G (n.72-955T>G) n.392T>G | |
| 8 | g.42839291A>G | CA460569125 | THAP1 | c.162T>C (p.Cys54=) c.72-955T>C (n.72-955T>C) n.392T>C | |
| 8 | g.42839291A>T | CA371107948 | THAP1 | c.162T>A (p.Cys54Ter) c.72-955T>A (n.72-955T>A) n.392T>A | |
| 8 | g.42839292C>A | CA371107950 | THAP1 | c.161G>T (p.Cys54Phe) c.72-956G>T (n.72-956G>T) n.391G>T | |
| 8 | g.42839292C= | CA1779608158 | THAP1 | c.161G= (p.Cys54=) c.72-956G= (n.72-956G=) n.391G= | |
| 8 | g.42839292C>G | CA371107951 | THAP1 | c.161G>C (p.Cys54Ser) c.72-956G>C (n.72-956G>C) n.391G>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.42839292C>T | CA371107953 | THAP1 | c.161G>A (p.Cys54Tyr) c.72-956G>A (n.72-956G>A) n.391G>A | |
| 8 | g.42839293A>C | CA371107955 | THAP1 | c.160T>G (p.Cys54Gly) c.72-957T>G (n.72-957T>G) n.390T>G | |
| 8 | g.42839293A>G | CA371107956 | THAP1 | c.160T>C (p.Cys54Arg) c.72-957T>C (n.72-957T>C) n.390T>C | |
| 8 | g.42839293A>T | CA371107959 | THAP1 | c.160T>A (p.Cys54Ser) c.72-957T>A (n.72-957T>A) n.390T>A | |
| 8 | g.42839295del | CA2687126253 | THAP1 | c.160del (p.Cys54ValfsTer19) c.72-957del (n.72-957del) n.390del | gnomAD v4 |
| 8 | g.42839294A= | CA1779608159 | THAP1 | c.159T= (p.Ile53=) c.72-958T= (n.72-958T=) n.389T= | |
| 8 | g.42839294A>C | CA371107961 | THAP1 | c.159T>G (p.Ile53Met) c.72-958T>G (n.72-958T>G) n.389T>G | |
| 8 | g.42839294A>G | CA460569126 | THAP1 | c.159T>C (p.Ile53=) c.72-958T>C (n.72-958T>C) n.389T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.42839294A>T | CA460569127 | THAP1 | c.159T>A (p.Ile53=) c.72-958T>A (n.72-958T>A) n.389T>A | |
| 8 | g.42839295A>C | CA371107963 | THAP1 | c.158T>G (p.Ile53Ser) c.72-959T>G (n.72-959T>G) n.388T>G | |
| 8 | g.42839295A>G | CA371107965 | THAP1 | c.158T>C (p.Ile53Thr) c.72-959T>C (n.72-959T>C) n.388T>C | |
| 8 | g.42839295A>T | CA371107966 | THAP1 | c.158T>A (p.Ile53Asn) c.72-959T>A (n.72-959T>A) n.388T>A | |
| 8 | g.42839296T>A | CA371107968 | THAP1 | c.157A>T (p.Ile53Phe) c.72-960A>T (n.72-960A>T) n.387A>T | |
| 8 | g.42839296T>C | CA371107969 | THAP1 | c.157A>G (p.Ile53Val) c.72-960A>G (n.72-960A>G) n.387A>G | dbSNP |
| 8 | g.42839296T>G | CA371107972 | THAP1 | c.157A>C (p.Ile53Leu) c.72-960A>C (n.72-960A>C) n.387A>C | |
| 8 | g.42839296T= | CA1779608160 | THAP1 | c.157A= (p.Ile53=) c.72-960A= (n.72-960A=) n.387A= | |
| 8 | g.42839297A>C | CA371107974 | THAP1 | c.156T>G (p.Ser52Arg) c.72-961T>G (n.72-961T>G) n.386T>G | |
| 8 | g.42839297A>G | CA460569128 | THAP1 | c.156T>C (p.Ser52=) c.72-961T>C (n.72-961T>C) n.386T>C | |
| 8 | g.42839297A>T | CA371107976 | THAP1 | c.156T>A (p.Ser52Arg) c.72-961T>A (n.72-961T>A) n.386T>A | |
| 8 | g.42839298C>A | CA371107978 | THAP1 | c.155G>T (p.Ser52Ile) c.72-962G>T (n.72-962G>T) n.385G>T | |
| 8 | g.42839298C= | CA1779608161 | THAP1 | c.155G= (p.Ser52=) c.72-962G= (n.72-962G=) n.385G= | |
| 8 | g.42839298C>G | CA371107979 | THAP1 | c.155G>C (p.Ser52Thr) c.72-962G>C (n.72-962G>C) n.385G>C | |
| 8 | g.42839298C>T | CA371107981 | THAP1 | c.155G>A (p.Ser52Asn) c.72-962G>A (n.72-962G>A) n.385G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.42839299T>A | CA371107983 | THAP1 | c.154A>T (p.Ser52Cys) c.72-963A>T (n.72-963A>T) n.384A>T | |
| 8 | g.42839299T>C | CA371107985 | THAP1 | c.154A>G (p.Ser52Gly) c.72-963A>G (n.72-963A>G) n.384A>G | |
| 8 | g.42839299T>G | CA371107987 | THAP1 | c.154A>C (p.Ser52Arg) c.72-963A>C (n.72-963A>C) n.384A>C | |
| 8 | g.42839300G>A | CA460569129 | THAP1 | c.153C>T (p.Ser51=) c.72-964C>T (n.72-964C>T) n.383C>T | |
| 8 | g.42839300G>C | CA371107989 | THAP1 | c.153C>G (p.Ser51Arg) c.72-964C>G (n.72-964C>G) n.383C>G | ClinVar dbSNP |
| 8 | g.42839300G= | CA1779608162 | THAP1 | c.153C= (p.Ser51=) c.72-964C= (n.72-964C=) n.383C= | |
| 8 | g.42839300G>T | CA371107990 | THAP1 | c.153C>A (p.Ser51Arg) c.72-964C>A (n.72-964C>A) n.383C>A |