| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.640997A>C | CA412231749 | SHOX | c.545-2A>C (n.545-2A>C) | |
| X | g.640997A>G | CA412231750 | SHOX | c.545-2A>G (n.545-2A>G) | |
| X | g.640997A>T | CA412231751 | SHOX | c.545-2A>T (n.545-2A>T) | |
| X | g.640998G>A | CA412231752 | SHOX | c.545-1G>A (n.545-1G>A) | gnomAD v4 |
| X | g.640998G>C | CA412231753 | SHOX | c.545-1G>C (n.545-1G>C) | |
| X | g.640998G>T | CA412231754 | SHOX | c.545-1G>T (n.545-1G>T) | gnomAD v4 |
| X | g.640999G>A | CA412231755 | SHOX | c.545G>A (p.Gly182Asp) | gnomAD v4 |
| X | g.640999G>C | CA412231756 | SHOX | c.545G>C (p.Gly182Ala) | |
| X | g.640999G>T | CA412231757 | SHOX | c.545G>T (p.Gly182Val) | gnomAD v4 |
| X | g.641000C>A | CA515290886 | SHOX | c.546C>A (p.Gly182=) | |
| X | g.641000C= | CA2411389833 | SHOX | c.546C= (p.Gly182=) | |
| X | g.641000C>G | CA10330057 | SHOX | c.546C>G (p.Gly182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641000C>T | CA10330056 | SHOX | c.546C>T (p.Gly182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.641001G>A | CA10330058 | SHOX | c.547G>A (p.Val183Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641001G>C | CA412231758 | SHOX | c.547G>C (p.Val183Leu) | ClinVar gnomAD v4 |
| X | g.641001G= | CA2411389834 | SHOX | c.547G= (p.Val183=) | |
| X | g.641001G>T | CA10330059 | SHOX | c.547G>T (p.Val183Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641002T>A | CA412231759 | SHOX | c.548T>A (p.Val183Asp) | gnomAD v4 |
| X | g.641002T>C | CA412231760 | SHOX | c.548T>C (p.Val183Ala) | |
| X | g.641002T>G | CA412231761 | SHOX | c.548T>G (p.Val183Gly) | |
| X | g.641003C>A | CA515290901 | SHOX | c.549C>A (p.Val183=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641003C= | CA2411389835 | SHOX | c.549C= (p.Val183=) | |
| X | g.641003C>G | CA515290903 | SHOX | c.549C>G (p.Val183=) | |
| X | g.641003C>T | CA515290905 | SHOX | c.549C>T (p.Val183=) | gnomAD v4 |
| X | g.641004A= | CA2411389836 | SHOX | c.550A= (p.Ile184=) | |
| X | g.641004A>C | CA412231762 | SHOX | c.550A>C (p.Ile184Leu) | |
| X | g.641004A>G | CA10330060 | SHOX | c.550A>G (p.Ile184Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641004A>T | CA412231763 | SHOX | c.550A>T (p.Ile184Phe) | |
| X | g.641005T>A | CA412231764 | SHOX | c.551T>A (p.Ile184Asn) | |
| X | g.641005T>C | CA412231765 | SHOX | c.551T>C (p.Ile184Thr) | |
| X | g.641005T>G | CA412231766 | SHOX | c.551T>G (p.Ile184Ser) | |
| X | g.641006C>A | CA515290916 | SHOX | c.552C>A (p.Ile184=) | |
| X | g.641006C>G | CA412231767 | SHOX | c.552C>G (p.Ile184Met) | |
| X | g.641006C>T | CA515290919 | SHOX | c.552C>T (p.Ile184=) | |
| X | g.641007T>A | CA412231768 | SHOX | c.553T>A (p.Leu185Met) | |
| X | g.641007T>C | CA10330061 | SHOX | c.553T>C (p.Leu185=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.641007T>G | CA412231769 | SHOX | c.553T>G (p.Leu185Val) | |
| X | g.641007T= | CA2411389837 | SHOX | c.553T= (p.Leu185=) | |
| X | g.641008T>A | CA412231772 | SHOX | c.554T>A (p.Leu185Ter) | |
| X | g.641008T>C | CA412231771 | SHOX | c.554T>C (p.Leu185Ser) | gnomAD v4 |
| X | g.641008T>G | CA412231770 | SHOX | c.554T>G (p.Leu185Trp) | gnomAD v4 |
| X | g.641009G>A | CA515290934 | SHOX | c.555G>A (p.Leu185=) | |
| X | g.641009G>C | CA412231773 | SHOX | c.555G>C (p.Leu185Phe) | |
| X | g.641009G>T | CA412231774 | SHOX | c.555G>T (p.Leu185Phe) | |
| X | g.641010G>A | CA412231775 | SHOX | c.556G>A (p.Gly186Ser) | |
| X | g.641010G>C | CA412231776 | SHOX | c.556G>C (p.Gly186Arg) | |
| X | g.641010G>T | CA412231777 | SHOX | c.556G>T (p.Gly186Cys) | |
| X | g.641011G>A | CA412231778 | SHOX | c.557G>A (p.Gly186Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641011G>C | CA412231779 | SHOX | c.557G>C (p.Gly186Ala) | |
| X | g.641011G= | CA2411389838 | SHOX | c.557G= (p.Gly186=) | |
| X | g.641011G>T | CA412231780 | SHOX | c.557G>T (p.Gly186Val) | |
| X | g.641012C>A | CA515290949 | SHOX | c.558C>A (p.Gly186=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641012C= | CA2411389839 | SHOX | c.558C= (p.Gly186=) | |
| X | g.641012C>G | CA515290951 | SHOX | c.558C>G (p.Gly186=) | |
| X | g.641012C>T | CA515290953 | SHOX | c.558C>T (p.Gly186=) | |
| X | g.641013A= | CA2411389840 | SHOX | c.559A= (p.Thr187=) | |
| X | g.641013A>C | CA412231781 | SHOX | c.559A>C (p.Thr187Pro) | |
| X | g.641013A>G | CA10330062 | SHOX | c.559A>G (p.Thr187Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641013A>T | CA412231782 | SHOX | c.559A>T (p.Thr187Ser) | |
| X | g.641014C>A | CA412231783 | SHOX | c.560C>A (p.Thr187Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641014C= | CA2411389841 | SHOX | c.560C= (p.Thr187=) | |
| X | g.641014C>G | CA412231784 | SHOX | c.560C>G (p.Thr187Arg) | |
| X | g.641014C>T | CA412231785 | SHOX | c.560C>T (p.Thr187Ile) | gnomAD v4 |
| X | g.641015A>C | CA515290969 | SHOX | c.561A>C (p.Thr187=) | |
| X | g.641015A>G | CA515290968 | SHOX | c.561A>G (p.Thr187=) | |
| X | g.641015A>T | CA515290971 | SHOX | c.561A>T (p.Thr187=) | |
| X | g.641016G>A | CA412231788 | SHOX | c.562G>A (p.Ala188Thr) | |
| X | g.641016G>C | CA412231787 | SHOX | c.562G>C (p.Ala188Pro) | |
| X | g.641016G>T | CA412231786 | SHOX | c.562G>T (p.Ala188Ser) | |
| X | g.641017C>A | CA412231789 | SHOX | c.563C>A (p.Ala188Asp) | |
| X | g.641017C= | CA2411389842 | SHOX | c.563C= (p.Ala188=) | |
| X | g.641017C>G | CA412231790 | SHOX | c.563C>G (p.Ala188Gly) | |
| X | g.641017C>T | CA412231791 | SHOX | c.563C>T (p.Ala188Val) | dbSNP gnomAD v4 |
| X | g.641018C>A | CA515290985 | SHOX | c.564C>A (p.Ala188=) | |
| X | g.641018C>G | CA515290987 | SHOX | c.564C>G (p.Ala188=) | |
| X | g.641018C>T | CA515290990 | SHOX | c.564C>T (p.Ala188=) | |
| X | g.641019A= | CA2411389843 | SHOX | c.565A= (p.Asn189=) | |
| X | g.641019A>C | CA412231792 | SHOX | c.565A>C (p.Asn189His) | |
| X | g.641019A>G | CA412231793 | SHOX | c.565A>G (p.Asn189Asp) | |
| X | g.641019A>T | CA412231794 | SHOX | c.565A>T (p.Asn189Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641020A= | CA2411389844 | SHOX | c.566A= (p.Asn189=) | |
| X | g.641020A>C | CA412231797 | SHOX | c.566A>C (p.Asn189Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641020A>G | CA412231795 | SHOX | c.566A>G (p.Asn189Ser) | gnomAD v4 |
| X | g.641020A>T | CA412231796 | SHOX | c.566A>T (p.Asn189Ile) | |
| X | g.641021C>A | CA412231798 | SHOX | c.567C>A (p.Asn189Lys) | COSMIC COSMIC |
| X | g.641021C= | CA2411389845 | SHOX | c.567C= (p.Asn189=) | |
| X | g.641021C>G | CA412231799 | SHOX | c.567C>G (p.Asn189Lys) | |
| X | g.641021C>T | CA515291005 | SHOX | c.567C>T (p.Asn189=) | dbSNP |
| X | g.641022C>A | CA412231800 | SHOX | c.568C>A (p.His190Asn) | |
| X | g.641022C>G | CA412231801 | SHOX | c.568C>G (p.His190Asp) | |
| X | g.641022C>T | CA412231802 | SHOX | c.568C>T (p.His190Tyr) | |
| X | g.641023A>C | CA412231805 | SHOX | c.569A>C (p.His190Pro) | gnomAD v4 |
| X | g.641023A>G | CA412231803 | SHOX | c.569A>G (p.His190Arg) | |
| X | g.641023A>T | CA412231804 | SHOX | c.569A>T (p.His190Leu) | gnomAD v4 |
| X | g.641024C>A | CA412231806 | SHOX | c.570C>A (p.His190Gln) | |
| X | g.641024C= | CA2411389846 | SHOX | c.570C= (p.His190=) | |
| X | g.641024C>G | CA412231807 | SHOX | c.570C>G (p.His190Gln) | |
| X | g.641024C>T | CA10330063 | SHOX | c.570C>T (p.His190=) | dbSNP ExAC gnomAD v4 |
| X | g.641025C>A | CA412231808 | SHOX | c.571C>A (p.Leu191Ile) | gnomAD v4 |
| X | g.641025C= | CA2411389847 | SHOX | c.571C= (p.Leu191=) | |
| X | g.641025C>G | CA412231809 | SHOX | c.571C>G (p.Leu191Val) | |
| X | g.641025C>T | CA10330064 | SHOX | c.571C>T (p.Leu191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641026T>A | CA412231810 | SHOX | c.572T>A (p.Leu191Gln) | |
| X | g.641026T>C | CA412231811 | SHOX | c.572T>C (p.Leu191Pro) | gnomAD v4 |
| X | g.641026T>G | CA412231812 | SHOX | c.572T>G (p.Leu191Arg) | |
| X | g.641027A>C | CA515291038 | SHOX | c.573A>C (p.Leu191=) | |
| X | g.641027A>G | CA515291040 | SHOX | c.573A>G (p.Leu191=) | gnomAD v4 |
| X | g.641027A>T | CA515291043 | SHOX | c.573A>T (p.Leu191=) | |
| X | g.641028G>A | CA412231813 | SHOX | c.574G>A (p.Asp192Asn) | |
| X | g.641028G>C | CA412231814 | SHOX | c.574G>C (p.Asp192His) | |
| X | g.641028G>T | CA412231815 | SHOX | c.574G>T (p.Asp192Tyr) | |
| X | g.641029A>C | CA412231816 | SHOX | c.575A>C (p.Asp192Ala) | |
| X | g.641029A>G | CA412231818 | SHOX | c.575A>G (p.Asp192Gly) | |
| X | g.641029A>T | CA412231817 | SHOX | c.575A>T (p.Asp192Val) | gnomAD v4 |
| X | g.641030C>A | CA412231819 | SHOX | c.576C>A (p.Asp192Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641030C= | CA2411389848 | SHOX | c.576C= (p.Asp192=) | |
| X | g.641030C>G | CA412231820 | SHOX | c.576C>G (p.Asp192Glu) | |
| X | g.641030C>T | CA10330065 | SHOX | c.576C>T (p.Asp192=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.641031G>A | CA10330066 | SHOX | c.577G>A (p.Ala193Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641031G>C | CA412231821 | SHOX | c.577G>C (p.Ala193Pro) | gnomAD v4 |
| X | g.641031G= | CA2411389849 | SHOX | c.577G= (p.Ala193=) | |
| X | g.641031G>T | CA412231822 | SHOX | c.577G>T (p.Ala193Ser) | |
| X | g.641032C>A | CA412231823 | SHOX | c.578C>A (p.Ala193Asp) | |
| X | g.641032C>G | CA412231824 | SHOX | c.578C>G (p.Ala193Gly) | |
| X | g.641032C>T | CA412231825 | SHOX | c.578C>T (p.Ala193Val) | gnomAD v4 |
| X | g.641033C>A | CA515291074 | SHOX | c.579C>A (p.Ala193=) | |
| X | g.641033C>G | CA515291077 | SHOX | c.579C>G (p.Ala193=) | |
| X | g.641033C>T | CA515291080 | SHOX | c.579C>T (p.Ala193=) | |
| X | g.641034T>A | CA412231826 | SHOX | c.580T>A (p.Cys194Ser) | |
| X | g.641034T>C | CA412231827 | SHOX | c.580T>C (p.Cys194Arg) | |
| X | g.641034T>G | CA412231828 | SHOX | c.580T>G (p.Cys194Gly) | |
| X | g.641035G>A | CA412231829 | SHOX | c.581G>A (p.Cys194Tyr) | COSMIC COSMIC |
| X | g.641035G>C | CA412231830 | SHOX | c.581G>C (p.Cys194Ser) | |
| X | g.641035G>T | CA412231831 | SHOX | c.581G>T (p.Cys194Phe) | |
| X | g.641036C>A | CA412231833 | SHOX | c.582C>A (p.Cys194Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.641036C= | CA2411389850 | SHOX | c.582C= (p.Cys194=) | |
| X | g.641036C>G | CA412231832 | SHOX | c.582C>G (p.Cys194Trp) | |
| X | g.641036C>T | CA515291092 | SHOX | c.582C>T (p.Cys194=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641037C>A | CA10330067 | SHOX | c.583C>A (p.Arg195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641037C= | CA2411389851 | SHOX | c.583C= (p.Arg195=) | |
| X | g.641037C>G | CA412231834 | SHOX | c.583C>G (p.Arg195Gly) | |
| X | g.641037C>T | CA213424 | SHOX | c.583C>T (p.Arg195Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641038G>A | CA10330068 | SHOX | c.584G>A (p.Arg195Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641038G>C | CA412231835 | SHOX | c.584G>C (p.Arg195Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641038G= | CA2411389852 | SHOX | c.584G= (p.Arg195=) | |
| X | g.641038G>T | CA412231836 | SHOX | c.584G>T (p.Arg195Leu) | |
| X | g.641039A= | CA2411389853 | SHOX | c.585A= (p.Arg195=) | |
| X | g.641039A>C | CA515291117 | SHOX | c.585A>C (p.Arg195=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641039A>G | CA515291112 | SHOX | c.585A>G (p.Arg195=) | gnomAD v4 |
| X | g.641039A>T | CA515291114 | SHOX | c.585A>T (p.Arg195=) | |
| X | g.641040G>A | CA412231837 | SHOX | c.586G>A (p.Val196Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641040G>C | CA412231838 | SHOX | c.586G>C (p.Val196Leu) | |
| X | g.641040G= | CA2411389854 | SHOX | c.586G= (p.Val196=) | |
| X | g.641040G>T | CA412231839 | SHOX | c.586G>T (p.Val196Leu) | |
| X | g.641041T>A | CA412231840 | SHOX | c.587T>A (p.Val196Glu) | dbSNP |
| X | g.641041T>C | CA412231841 | SHOX | c.587T>C (p.Val196Ala) | |
| X | g.641041T>G | CA412231842 | SHOX | c.587T>G (p.Val196Gly) | |
| X | g.641042G>A | CA515291131 | SHOX | c.588G>A (p.Val196=) | |
| X | g.641042G>C | CA515291136 | SHOX | c.588G>C (p.Val196=) | |
| X | g.641042G>T | CA515291134 | SHOX | c.588G>T (p.Val196=) | |
| X | g.641043G>A | CA412231845 | SHOX | c.589G>A (p.Ala197Thr) | gnomAD v4 |
| X | g.641043G>C | CA412231844 | SHOX | c.589G>C (p.Ala197Pro) | |
| X | g.641043G>T | CA412231843 | SHOX | c.589G>T (p.Ala197Ser) | gnomAD v4 |
| X | g.641044C>A | CA412231846 | SHOX | c.590C>A (p.Ala197Glu) | gnomAD v4 |
| X | g.641044C>G | CA412231847 | SHOX | c.590C>G (p.Ala197Gly) | |
| X | g.641044C>T | CA412231848 | SHOX | c.590C>T (p.Ala197Val) | gnomAD v4 |
| X | g.641045A>C | CA515291152 | SHOX | c.591A>C (p.Ala197=) | |
| X | g.641045A>G | CA515291156 | SHOX | c.591A>G (p.Ala197=) | |
| X | g.641045A>T | CA515291159 | SHOX | c.591A>T (p.Ala197=) | |
| X | g.641046C>A | CA412231849 | SHOX | c.592C>A (p.Pro198Thr) | |
| X | g.641046C= | CA2411389855 | SHOX | c.592C= (p.Pro198=) | |
| X | g.641046C>G | CA412231850 | SHOX | c.592C>G (p.Pro198Ala) | |
| X | g.641046C>T | CA412231851 | SHOX | c.592C>T (p.Pro198Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641047C>A | CA412231852 | SHOX | c.593C>A (p.Pro198His) | |
| X | g.641047C>G | CA412231853 | SHOX | c.593C>G (p.Pro198Arg) | |
| X | g.641047C>T | CA412231854 | SHOX | c.593C>T (p.Pro198Leu) | |
| X | g.641048C>A | CA515291172 | SHOX | c.594C>A (p.Pro198=) | |
| X | g.641048C= | CA2411389856 | SHOX | c.594C= (p.Pro198=) | |
| X | g.641048C>G | CA515291174 | SHOX | c.594C>G (p.Pro198=) | dbSNP |
| X | g.641048C>T | CA10330069 | SHOX | c.594C>T (p.Pro198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641049T>A | CA412231855 | SHOX | c.595T>A (p.Tyr199Asn) | |
| X | g.641049T>C | CA412231856 | SHOX | c.595T>C (p.Tyr199His) | |
| X | g.641049T>G | CA412231857 | SHOX | c.595T>G (p.Tyr199Asp) | |
| X | g.641050A= | CA2411389857 | SHOX | c.596A= (p.Tyr199=) | |
| X | g.641050A>C | CA412231860 | SHOX | c.596A>C (p.Tyr199Ser) | |
| X | g.641050A>G | CA412231858 | SHOX | c.596A>G (p.Tyr199Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641050A>T | CA412231859 | SHOX | c.596A>T (p.Tyr199Phe) | |
| X | g.641051C>A | CA412231861 | SHOX | c.597C>A (p.Tyr199Ter) | |
| X | g.641051C= | CA2411389858 | SHOX | c.597C= (p.Tyr199=) | |
| X | g.641051C>G | CA254909 | SHOX | c.597C>G (p.Tyr199Ter) | ClinVar dbSNP |
| X | g.641051C>T | CA10330070 | SHOX | c.597C>T (p.Tyr199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641052G>A | CA10330071 | SHOX | c.598G>A (p.Val200Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641052G>C | CA412231862 | SHOX | c.598G>C (p.Val200Leu) | |
| X | g.641052G= | CA2411389859 | SHOX | c.598G= (p.Val200=) | |
| X | g.641052G>T | CA412231863 | SHOX | c.598G>T (p.Val200Phe) | gnomAD v4 |
| X | g.641053T>A | CA412231864 | SHOX | c.599T>A (p.Val200Asp) | gnomAD v4 |
| X | g.641053T>C | CA412231865 | SHOX | c.599T>C (p.Val200Ala) | |
| X | g.641053T>G | CA412231866 | SHOX | c.599T>G (p.Val200Gly) | |
| X | g.641054C>A | CA515291204 | SHOX | c.600C>A (p.Val200=) | |
| X | g.641054C>G | CA515291206 | SHOX | c.600C>G (p.Val200=) | |
| X | g.641054C>T | CA515291208 | SHOX | c.600C>T (p.Val200=) | |
| X | g.641055A>C | CA412231867 | SHOX | c.601A>C (p.Asn201His) | |
| X | g.641055A>G | CA412231868 | SHOX | c.601A>G (p.Asn201Asp) | |
| X | g.641055A>T | CA412231869 | SHOX | c.601A>T (p.Asn201Tyr) | |
| X | g.641056A= | CA2411389860 | SHOX | c.602A= (p.Asn201=) | |
| X | g.641056A>C | CA412231871 | SHOX | c.602A>C (p.Asn201Thr) | |
| X | g.641056A>G | CA412231872 | SHOX | c.602A>G (p.Asn201Ser) | dbSNP |
| X | g.641056A>T | CA412231870 | SHOX | c.602A>T (p.Asn201Ile) | gnomAD v4 |
| X | g.641057C>A | CA412231874 | SHOX | c.603C>A (p.Asn201Lys) | |
| X | g.641057C>G | CA412231873 | SHOX | c.603C>G (p.Asn201Lys) | gnomAD v4 |
| X | g.641057C>T | CA515291222 | SHOX | c.603C>T (p.Asn201=) | gnomAD v4 |
| X | g.641058del | CA2695231054 | SHOX | c.604del (p.Met202TrpfsTer?) c.604del (p.Met202TrpfsTer22) | |
| X | g.641058A>C | CA412231876 | SHOX | c.604A>C (p.Met202Leu) | |
| X | g.641058A>G | CA412231875 | SHOX | c.604A>G (p.Met202Val) | gnomAD v4 |
| X | g.641058A>T | CA412231877 | SHOX | c.604A>T (p.Met202Leu) | |
| X | g.641058_641059delinsAT | CA2411389861 | SHOX | c.604_605delinsAT (p.Met202=) | |
| X | g.641059del | CA2411389862 | SHOX | c.605del (p.Met202ArgfsTer?) c.605del (p.Met202ArgfsTer22) | ClinVar dbSNP |
| X | g.641059T>A | CA412231878 | SHOX | c.605T>A (p.Met202Lys) | |
| X | g.641059T>C | CA412231879 | SHOX | c.605T>C (p.Met202Thr) | |
| X | g.641059T>G | CA10330072 | SHOX | c.605T>G (p.Met202Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641059T= | CA2411389863 | SHOX | c.605T= (p.Met202=) | |
| X | g.641060G>A | CA412231880 | SHOX | c.606G>A (p.Met202Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.641060G>C | CA412231882 | SHOX | c.606G>C (p.Met202Ile) | |
| X | g.641060G= | CA2411389864 | SHOX | c.606G= (p.Met202=) | |
| X | g.641060G>T | CA412231881 | SHOX | c.606G>T (p.Met202Ile) | COSMIC |
| X | g.641061G>A | CA412231883 | SHOX | c.607G>A (p.Gly203Arg) | gnomAD v4 |
| X | g.641061G>C | CA412231884 | SHOX | c.607G>C (p.Gly203Arg) | |
| X | g.641061G>T | CA412231885 | SHOX | c.607G>T (p.Gly203Ter) | |
| X | g.641062G>A | CA412231886 | SHOX | c.608G>A (p.Gly203Glu) | |
| X | g.641062G>C | CA412231887 | SHOX | c.608G>C (p.Gly203Ala) | dbSNP |
| X | g.641062G= | CA2411389865 | SHOX | c.608G= (p.Gly203=) | |
| X | g.641062G>T | CA412231888 | SHOX | c.608G>T (p.Gly203Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641063A>C | CA515291261 | SHOX | c.609A>C (p.Gly203=) | |
| X | g.641063A>G | CA515291263 | SHOX | c.609A>G (p.Gly203=) | |
| X | g.641063A>T | CA515291266 | SHOX | c.609A>T (p.Gly203=) | |
| X | g.641064G>A | CA412231891 | SHOX | c.610G>A (p.Ala204Thr) | |
| X | g.641064G>C | CA412231889 | SHOX | c.610G>C (p.Ala204Pro) | |
| X | g.641064G>T | CA412231890 | SHOX | c.610G>T (p.Ala204Ser) | gnomAD v4 |
| X | g.641065C>A | CA412231892 | SHOX | c.611C>A (p.Ala204Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.641065C= | CA2411389866 | SHOX | c.611C= (p.Ala204=) | |
| X | g.641065C>G | CA412231893 | SHOX | c.611C>G (p.Ala204Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641065C>T | CA10330073 | SHOX | c.611C>T (p.Ala204Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641066C>A | CA515291278 | SHOX | c.612C>A (p.Ala204=) | |
| X | g.641066C>G | CA515291280 | SHOX | c.612C>G (p.Ala204=) | |
| X | g.641066C>T | CA515291283 | SHOX | c.612C>T (p.Ala204=) | |
| X | g.641067T>A | CA412231894 | SHOX | c.613T>A (p.Leu205Ile) | |
| X | g.641067T>C | CA515291287 | SHOX | c.613T>C (p.Leu205=) | |
| X | g.641067T>G | CA412231895 | SHOX | c.613T>G (p.Leu205Val) | |
| X | g.641068T>A | CA412231896 | SHOX | c.614T>A (p.Leu205Ter) | |
| X | g.641068T>C | CA10330074 | SHOX | c.614T>C (p.Leu205Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641068T>G | CA412231897 | SHOX | c.614T>G (p.Leu205Ter) | |
| X | g.641068T= | CA2411389867 | SHOX | c.614T= (p.Leu205=) | |
| X | g.641069A= | CA2411389868 | SHOX | c.615A= (p.Leu205=) | |
| X | g.641069A>C | CA412231898 | SHOX | c.615A>C (p.Leu205Phe) | |
| X | g.641069A>G | CA515291300 | SHOX | c.615A>G (p.Leu205=) | dbSNP |
| X | g.641069A>T | CA412231899 | SHOX | c.615A>T (p.Leu205Phe) | |
| X | g.641069_641070insAA | CA2580615351 | SHOX | c.615_616insAA (p.Arg206AsnfsTer?) c.615_616insAA (p.Arg206AsnfsTer19) | ClinVar dbSNP |
| X | g.641070C>A | CA515291305 | SHOX | c.616C>A (p.Arg206=) | |
| X | g.641070C= | CA2411389869 | SHOX | c.616C= (p.Arg206=) | |
| X | g.641070C>G | CA412231900 | SHOX | c.616C>G (p.Arg206Gly) | |
| X | g.641070C>T | CA10330075 | SHOX | c.616C>T (p.Arg206Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641071G>A | CA10330076 | SHOX | c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.641071G>C | CA412231901 | SHOX | c.617G>C (p.Arg206Pro) | |
| X | g.641071G= | CA2411389870 | SHOX | c.617G= (p.Arg206=) | |
| X | g.641071G>T | CA412231902 | SHOX | c.617G>T (p.Arg206Leu) | COSMIC COSMIC |
| X | g.641072del | CA2692951861 | SHOX | c.618del (p.Met207CysfsTer?) c.618del (p.Met207CysfsTer17) | gnomAD v4 |
| X | g.641072G>A | CA515291318 | SHOX | c.618G>A (p.Arg206=) | COSMIC COSMIC |
| X | g.641072G>C | CA515291321 | SHOX | c.618G>C (p.Arg206=) | gnomAD v4 |
| X | g.641072G>T | CA515291323 | SHOX | c.618G>T (p.Arg206=) | |
| X | g.641073A>C | CA412231903 | SHOX | c.619A>C (p.Met207Leu) | |
| X | g.641073A>G | CA412231904 | SHOX | c.619A>G (p.Met207Val) | |
| X | g.641073A>T | CA412231905 | SHOX | c.619A>T (p.Met207Leu) | |
| X | g.641074T>A | CA412231906 | SHOX | c.620T>A (p.Met207Lys) | |
| X | g.641074T>C | CA412231908 | SHOX | c.620T>C (p.Met207Thr) | |
| X | g.641074T>G | CA412231907 | SHOX | c.620T>G (p.Met207Arg) | |
| X | g.641075G>A | CA412231909 | SHOX | c.621G>A (p.Met207Ile) | |
| X | g.641075G>C | CA412231910 | SHOX | c.621G>C (p.Met207Ile) | |
| X | g.641075G= | CA2411389871 | SHOX | c.621G= (p.Met207=) | |
| X | g.641075G>T | CA412231911 | SHOX | c.621G>T (p.Met207Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.641076C>A | CA412231912 | SHOX | c.622C>A (p.Pro208Thr) | gnomAD v4 |
| X | g.641076C= | CA2411389872 | SHOX | c.622C= (p.Pro208=) | |
| X | g.641076C>G | CA412231913 | SHOX | c.622C>G (p.Pro208Ala) | |
| X | g.641076C>T | CA412231914 | SHOX | c.622C>T (p.Pro208Ser) | dbSNP gnomAD v2 |
| X | g.641077C>A | CA412231915 | SHOX | c.623C>A (p.Pro208His) | |
| X | g.641077C= | CA2411389873 | SHOX | c.623C= (p.Pro208=) | |
| X | g.641077C>G | CA412231916 | SHOX | c.623C>G (p.Pro208Arg) | gnomAD v4 |
| X | g.641077C>T | CA412231917 | SHOX | c.623C>T (p.Pro208Leu) | dbSNP |
| X | g.641078T>A | CA515291349 | SHOX | c.624T>A (p.Pro208=) | |
| X | g.641078T>C | CA515291352 | SHOX | c.624T>C (p.Pro208=) | gnomAD v4 |
| X | g.641078T>G | CA515291347 | SHOX | c.624T>G (p.Pro208=) | |
| X | g.641079T>A | CA412231918 | SHOX | c.625T>A (p.Phe209Ile) | |
| X | g.641079T>C | CA412231919 | SHOX | c.625T>C (p.Phe209Leu) | COSMIC |
| X | g.641079T>G | CA412231920 | SHOX | c.625T>G (p.Phe209Val) | |
| X | g.641080T>A | CA412231921 | SHOX | c.626T>A (p.Phe209Tyr) | |
| X | g.641080T>C | CA412231923 | SHOX | c.626T>C (p.Phe209Ser) | |
| X | g.641080T>G | CA412231922 | SHOX | c.626T>G (p.Phe209Cys) | |
| X | g.641081C>A | CA412231924 | SHOX | c.627C>A (p.Phe209Leu) | |
| X | g.641081C= | CA2411389874 | SHOX | c.627C= (p.Phe209=) | |
| X | g.641081C>G | CA412231925 | SHOX | c.627C>G (p.Phe209Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641081C>T | CA515291370 | SHOX | c.627C>T (p.Phe209=) | |
| X | g.641082C>A | CA412231926 | SHOX | c.628C>A (p.Gln210Lys) | |
| X | g.641082C>G | CA412231927 | SHOX | c.628C>G (p.Gln210Glu) | |
| X | g.641082C>T | CA412231928 | SHOX | c.628C>T (p.Gln210Ter) | |
| X | g.641083A>C | CA412231929 | SHOX | c.629A>C (p.Gln210Pro) | |
| X | g.641083A>G | CA412231930 | SHOX | c.629A>G (p.Gln210Arg) | |
| X | g.641083A>T | CA412231931 | SHOX | c.629A>T (p.Gln210Leu) | |
| X | g.641084A>C | CA412231932 | SHOX | c.630A>C (p.Gln210His) | |
| X | g.641084A>G | CA515291391 | SHOX | c.630A>G (p.Gln210=) | |
| X | g.641084A>T | CA412231933 | SHOX | c.630A>T (p.Gln210His) | |
| X | g.641085C>A | CA412231935 | SHOX | c.631C>A (p.Gln211Lys) | |
| X | g.641085C>G | CA412231936 | SHOX | c.631C>G (p.Gln211Glu) | |
| X | g.641085C>T | CA412231934 | SHOX | c.631C>T (p.Gln211Ter) | |
| X | g.641086A>C | CA412231939 | SHOX | c.632A>C (p.Gln211Pro) | |
| X | g.641086A>G | CA412231937 | SHOX | c.632A>G (p.Gln211Arg) | gnomAD v4 |
| X | g.641086A>T | CA412231938 | SHOX | c.632A>T (p.Gln211Leu) | |
| X | g.641087G>A | CA515291405 | SHOX | c.633G>A (p.Gln211=) | |
| X | g.641087G>C | CA412231940 | SHOX | c.633G>C (p.Gln211His) | |
| X | g.641087G>T | CA412231941 | SHOX | c.633G>T (p.Gln211His) | |
| X | g.641088G>A | CA412231942 | SHOX | c.633+1G>A (n.633+1G>A) | |
| X | g.641088G>C | CA412231943 | SHOX | c.633+1G>C (n.633+1G>C) | |
| X | g.641088G>T | CA412231944 | SHOX | c.633+1G>T (n.633+1G>T) | |
| X | g.641089T>A | CA412231945 | SHOX | c.633+2T>A (n.633+2T>A) | |
| X | g.641089T>C | CA412231946 | SHOX | c.633+2T>C (n.633+2T>C) | |
| X | g.641089T>G | CA412231947 | SHOX | c.633+2T>G (n.633+2T>G) | |
| X | g.641090A= | CA2411389875 | SHOX | c.633+3A= (n.633+3A=) | |
| X | g.641090A>G | CA10330077 | SHOX | c.633+3A>G (n.633+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641091G>C | CA10330078 | SHOX | c.633+4G>C (n.633+4G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641091G= | CA2411389876 | SHOX | c.633+4G= (n.633+4G=) | |
| X | g.641092C>A | CA640121469 | SHOX | c.633+5C>A (n.633+5C>A) | dbSNP gnomAD v2 |
| X | g.641092C= | CA2411389877 | SHOX | c.633+5C= (n.633+5C=) | |
| X | g.641092C>G | CA10330079 | SHOX | c.633+5C>G (n.633+5C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641092C>T | CA640121464 | SHOX | c.633+5C>T (n.633+5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.641094C>T | CA2692951863 | SHOX | c.633+7C>T (n.633+7C>T) | gnomAD v4 |
| X | g.641095A= | CA2411389878 | SHOX | c.633+8A= (n.633+8A=) | |
| X | g.641095A>C | CA2692951864 | SHOX | c.633+8A>C (n.633+8A>C) | gnomAD v4 |
| X | g.641095A>G | CA877166591 | SHOX | c.633+8A>G (n.633+8A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641096C>A | CA2411389879 | SHOX | c.633+9C>A (n.633+9C>A) | dbSNP gnomAD v4 |
| X | g.641096C= | CA2411389881 | SHOX | c.633+9C= (n.633+9C=) | |
| X | g.641096C>G | CA325623541 | SHOX | c.633+9C>G (n.633+9C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.641096C>T | CA10330080 | SHOX | c.633+9C>T (n.633+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.641096_641097delinsCT | CA2411389880 | SHOX | c.633+9_633+10delinsCT (n.633+9_633+10delinsCT) | |
| X | g.641097T>G | CA2692951865 | SHOX | c.633+10T>G (n.633+10T>G) | gnomAD v4 |
| X | g.641101del | CA640121473 | SHOX | c.633+14del (n.633+14del) | dbSNP gnomAD v2 gnomAD v4 |