Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.19999538_20008463dup | CA2580611595 | MATN3 | c.224-2153_1168+903dup c.224-2153_1042+903dup | |
2 | g.20005953A= | CA2493007909 | MATN3 | c.581T= (p.Val194=) | |
2 | g.20005953A>C | CA345950801 | MATN3 | c.581T>G (p.Val194Gly) | |
2 | g.20005953A>G | CA345950802 | MATN3 | c.581T>C (p.Val194Ala) | |
2 | g.20005953A>T | CA254202 | MATN3 | c.581T>A (p.Val194Asp) | ClinVar dbSNP |
2 | g.20005954C>A | CA345950803 | MATN3 | c.580G>T (p.Val194Phe) | |
2 | g.20005954C>G | CA345950805 | MATN3 | c.580G>C (p.Val194Leu) | |
2 | g.20005954C>T | CA345950804 | MATN3 | c.580G>A (p.Val194Ile) | gnomAD v4 |
2 | g.20005955A= | CA2493007910 | MATN3 | c.579T= (p.Ile193=) | |
2 | g.20005955A>C | CA345950806 | MATN3 | c.579T>G (p.Ile193Met) | |
2 | g.20005955A>G | CA425341086 | MATN3 | c.579T>C (p.Ile193=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005955A>T | CA425341087 | MATN3 | c.579T>A (p.Ile193=) | |
2 | g.20005956A= | CA2493007911 | MATN3 | c.578T= (p.Ile193=) | |
2 | g.20005956A>C | CA345950807 | MATN3 | c.578T>G (p.Ile193Ser) | COSMIC |
2 | g.20005956A>G | CA1543947 | MATN3 | c.578T>C (p.Ile193Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005956A>T | CA1543948 | MATN3 | c.578T>A (p.Ile193Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005957T>A | CA345950808 | MATN3 | c.577A>T (p.Ile193Phe) | |
2 | g.20005957T>C | CA345950809 | MATN3 | c.577A>G (p.Ile193Val) | |
2 | g.20005957T>G | CA345950810 | MATN3 | c.577A>C (p.Ile193Leu) | |
2 | g.20005958G>A | CA425341088 | MATN3 | c.576C>T (p.Ile192=) | |
2 | g.20005958G>C | CA345950811 | MATN3 | c.576C>G (p.Ile192Met) | |
2 | g.20005958G>T | CA425341089 | MATN3 | c.576C>A (p.Ile192=) | |
2 | g.20005959A>C | CA345950812 | MATN3 | c.575T>G (p.Ile192Ser) | |
2 | g.20005959A>G | CA345950813 | MATN3 | c.575T>C (p.Ile192Thr) | |
2 | g.20005959A>T | CA345950814 | MATN3 | c.575T>A (p.Ile192Asn) | ClinVar dbSNP |
2 | g.20005960T>A | CA345950817 | MATN3 | c.574A>T (p.Ile192Phe) | |
2 | g.20005960T>C | CA345950816 | MATN3 | c.574A>G (p.Ile192Val) | gnomAD v4 |
2 | g.20005960T>G | CA345950815 | MATN3 | c.574A>C (p.Ile192Leu) | |
2 | g.20005961G>A | CA425341090 | MATN3 | c.573C>T (p.Ala191=) | |
2 | g.20005961G>C | CA425341091 | MATN3 | c.573C>G (p.Ala191=) | |
2 | g.20005961G>T | CA425341092 | MATN3 | c.573C>A (p.Ala191=) | |
2 | g.20005962G>A | CA345950818 | MATN3 | c.572C>T (p.Ala191Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005962G>C | CA345950819 | MATN3 | c.572C>G (p.Ala191Gly) | |
2 | g.20005962G= | CA2493007912 | MATN3 | c.572C= (p.Ala191=) | |
2 | g.20005962G>T | CA345950820 | MATN3 | c.572C>A (p.Ala191Asp) | ClinVar |
2 | g.20005963C>A | CA345950821 | MATN3 | c.571G>T (p.Ala191Ser) | |
2 | g.20005963C>G | CA345950822 | MATN3 | c.571G>C (p.Ala191Pro) | |
2 | g.20005963C>T | CA345950823 | MATN3 | c.571G>A (p.Ala191Thr) | |
2 | g.20005964C>A | CA425341093 | MATN3 | c.570G>T (p.Val190=) | |
2 | g.20005964C= | CA2493007913 | MATN3 | c.570G= (p.Val190=) | |
2 | g.20005964C>G | CA425341094 | MATN3 | c.570G>C (p.Val190=) | |
2 | g.20005964C>T | CA425341095 | MATN3 | c.570G>A (p.Val190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005965A>C | CA345950824 | MATN3 | c.569T>G (p.Val190Gly) | |
2 | g.20005965A>G | CA345950825 | MATN3 | c.569T>C (p.Val190Ala) | |
2 | g.20005965A>T | CA345950826 | MATN3 | c.569T>A (p.Val190Glu) | |
2 | g.20005966C>A | CA345950827 | MATN3 | c.568G>T (p.Val190Leu) | |
2 | g.20005966C>G | CA345950828 | MATN3 | c.568G>C (p.Val190Leu) | |
2 | g.20005966C>T | CA345950829 | MATN3 | c.568G>A (p.Val190Met) | |
2 | g.20005967C>A | CA345950830 | MATN3 | c.567G>T (p.Lys189Asn) | |
2 | g.20005967C= | CA2493007914 | MATN3 | c.567G= (p.Lys189=) | |
2 | g.20005967C>G | CA345950831 | MATN3 | c.567G>C (p.Lys189Asn) | |
2 | g.20005967C>T | CA425341096 | MATN3 | c.567G>A (p.Lys189=) | dbSNP |
2 | g.20005968T>A | CA345950832 | MATN3 | c.566A>T (p.Lys189Met) | |
2 | g.20005968T>C | CA345950833 | MATN3 | c.566A>G (p.Lys189Arg) | gnomAD v4 |
2 | g.20005968T>G | CA345950834 | MATN3 | c.566A>C (p.Lys189Thr) | |
2 | g.20005969T>A | CA345950835 | MATN3 | c.565A>T (p.Lys189Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005969T>C | CA345950836 | MATN3 | c.565A>G (p.Lys189Glu) | |
2 | g.20005969T>G | CA345950837 | MATN3 | c.565A>C (p.Lys189Gln) | |
2 | g.20005969T= | CA2493007915 | MATN3 | c.565A= (p.Lys189=) | |
2 | g.20005970A>C | CA425341097 | MATN3 | c.564T>G (p.Pro188=) | |
2 | g.20005970A>G | CA425341098 | MATN3 | c.564T>C (p.Pro188=) | gnomAD v4 |
2 | g.20005970A>T | CA425341099 | MATN3 | c.564T>A (p.Pro188=) | |
2 | g.20005971G>A | CA345950838 | MATN3 | c.563C>T (p.Pro188Leu) | |
2 | g.20005971G>C | CA345950839 | MATN3 | c.563C>G (p.Pro188Arg) | |
2 | g.20005971G>T | CA345950840 | MATN3 | c.563C>A (p.Pro188His) | |
2 | g.20005972G>A | CA345950841 | MATN3 | c.562C>T (p.Pro188Ser) | |
2 | g.20005972G>C | CA345950842 | MATN3 | c.562C>G (p.Pro188Ala) | |
2 | g.20005972G>T | CA345950843 | MATN3 | c.562C>A (p.Pro188Thr) | |
2 | g.20005973G>A | CA425341100 | MATN3 | c.561C>T (p.Ile187=) | |
2 | g.20005973G>C | CA345950844 | MATN3 | c.561C>G (p.Ile187Met) | |
2 | g.20005973G>T | CA425341101 | MATN3 | c.561C>A (p.Ile187=) | |
2 | g.20005974A>C | CA345950847 | MATN3 | c.560T>G (p.Ile187Ser) | |
2 | g.20005974A>G | CA345950845 | MATN3 | c.560T>C (p.Ile187Thr) | |
2 | g.20005974A>T | CA345950846 | MATN3 | c.560T>A (p.Ile187Asn) | |
2 | g.20005975T>A | CA345950848 | MATN3 | c.559A>T (p.Ile187Phe) | |
2 | g.20005975T>C | CA345950849 | MATN3 | c.559A>G (p.Ile187Val) | gnomAD v4 |
2 | g.20005975T>G | CA345950850 | MATN3 | c.559A>C (p.Ile187Leu) | |
2 | g.20005976G>A | CA43403780 | MATN3 | c.558C>T (p.Asn186=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005976G>C | CA345950851 | MATN3 | c.558C>G (p.Asn186Lys) | |
2 | g.20005976G= | CA2493007916 | MATN3 | c.558C= (p.Asn186=) | |
2 | g.20005976G>T | CA345950852 | MATN3 | c.558C>A (p.Asn186Lys) | |
2 | g.20005977T>A | CA345950853 | MATN3 | c.557A>T (p.Asn186Ile) | |
2 | g.20005977T>C | CA345950854 | MATN3 | c.557A>G (p.Asn186Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005977T>G | CA345950855 | MATN3 | c.557A>C (p.Asn186Thr) | |
2 | g.20005977T= | CA2493007917 | MATN3 | c.557A= (p.Asn186=) | |
2 | g.20005978T>A | CA345950856 | MATN3 | c.556A>T (p.Asn186Tyr) | |
2 | g.20005978T>C | CA345950857 | MATN3 | c.556A>G (p.Asn186Asp) | |
2 | g.20005978T>G | CA345950858 | MATN3 | c.556A>C (p.Asn186His) | |
2 | g.20005979A>C | CA425341104 | MATN3 | c.555T>G (p.Ser185=) | |
2 | g.20005979A>G | CA425341103 | MATN3 | c.555T>C (p.Ser185=) | |
2 | g.20005979A>T | CA425341102 | MATN3 | c.555T>A (p.Ser185=) | |
2 | g.20005980G>A | CA1543950 | MATN3 | c.554C>T (p.Ser185Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005980G>C | CA345950859 | MATN3 | c.554C>G (p.Ser185Cys) | |
2 | g.20005980G= | CA2493007918 | MATN3 | c.554C= (p.Ser185=) | |
2 | g.20005980G>T | CA1543949 | MATN3 | c.554C>A (p.Ser185Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005981A= | CA2493007919 | MATN3 | c.553T= (p.Ser185=) | |
2 | g.20005981A>C | CA345950860 | MATN3 | c.553T>G (p.Ser185Ala) | |
2 | g.20005981A>G | CA1543951 | MATN3 | c.553T>C (p.Ser185Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005981A>T | CA345950861 | MATN3 | c.553T>A (p.Ser185Thr) | |
2 | g.20005982A>C | CA425341105 | MATN3 | c.552T>G (p.Ser184=) | |
2 | g.20005982A>G | CA425341106 | MATN3 | c.552T>C (p.Ser184=) | |
2 | g.20005982A>T | CA425341107 | MATN3 | c.552T>A (p.Ser184=) | |
2 | g.20005983G>A | CA345950862 | MATN3 | c.551C>T (p.Ser184Phe) | |
2 | g.20005983G>C | CA345950864 | MATN3 | c.551C>G (p.Ser184Cys) | |
2 | g.20005983G= | CA2493007920 | MATN3 | c.551C= (p.Ser184=) | |
2 | g.20005983G>T | CA345950863 | MATN3 | c.551C>A (p.Ser184Tyr) | dbSNP |
2 | g.20005984del | CA2576684694 | MATN3 | c.550del (p.Ser184LeufsTer20) | |
2 | g.20005984A= | CA2493007921 | MATN3 | c.550T= (p.Ser184=) | |
2 | g.20005984A>C | CA345950865 | MATN3 | c.550T>G (p.Ser184Ala) | |
2 | g.20005984A>G | CA43403824 | MATN3 | c.550T>C (p.Ser184Pro) | dbSNP gnomAD v4 |
2 | g.20005984A>T | CA345950866 | MATN3 | c.550T>A (p.Ser184Thr) | |
2 | g.20005985G>A | CA425341108 | MATN3 | c.549C>T (p.Pro183=) | |
2 | g.20005985G>C | CA425341109 | MATN3 | c.549C>G (p.Pro183=) | |
2 | g.20005985G>T | CA425341110 | MATN3 | c.549C>A (p.Pro183=) | |
2 | g.20005986G>A | CA345950867 | MATN3 | c.548C>T (p.Pro183Leu) | dbSNP |
2 | g.20005986G>C | CA345950868 | MATN3 | c.548C>G (p.Pro183Arg) | |
2 | g.20005986G= | CA2493007922 | MATN3 | c.548C= (p.Pro183=) | |
2 | g.20005986G>T | CA345950869 | MATN3 | c.548C>A (p.Pro183His) | |
2 | g.20005986_20005987insT | CA2658010982 | MATN3 | c.547_548insA (p.Pro183HisfsTer4) | gnomAD v4 |
2 | g.20005987G>A | CA43403830 | MATN3 | c.547C>T (p.Pro183Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20005987G>C | CA345950870 | MATN3 | c.547C>G (p.Pro183Ala) | |
2 | g.20005987G= | CA2493007923 | MATN3 | c.547C= (p.Pro183=) | |
2 | g.20005987G>T | CA345950871 | MATN3 | c.547C>A (p.Pro183Thr) | |
2 | g.20005988C>A | CA345950872 | MATN3 | c.546G>T (p.Glu182Asp) | |
2 | g.20005988C= | CA2493007924 | MATN3 | c.546G= (p.Glu182=) | |
2 | g.20005988C>G | CA345950873 | MATN3 | c.546G>C (p.Glu182Asp) | gnomAD v4 |
2 | g.20005988C>T | CA425341111 | MATN3 | c.546G>A (p.Glu182=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005989T>A | CA345950874 | MATN3 | c.545A>T (p.Glu182Val) | |
2 | g.20005989T>C | CA345950875 | MATN3 | c.545A>G (p.Glu182Gly) | |
2 | g.20005989T>G | CA345950876 | MATN3 | c.545A>C (p.Glu182Ala) | |
2 | g.20005990C>A | CA345950879 | MATN3 | c.544G>T (p.Glu182Ter) | |
2 | g.20005990C= | CA2493007925 | MATN3 | c.544G= (p.Glu182=) | |
2 | g.20005990C>G | CA345950877 | MATN3 | c.544G>C (p.Glu182Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20005990C>T | CA345950878 | MATN3 | c.544G>A (p.Glu182Lys) | |
2 | g.20005991T>A | CA425341112 | MATN3 | c.543A>T (p.Arg181=) | |
2 | g.20005991T>C | CA425341113 | MATN3 | c.543A>G (p.Arg181=) | gnomAD v4 |
2 | g.20005991T>G | CA425341114 | MATN3 | c.543A>C (p.Arg181=) | |
2 | g.20005992C>A | CA345950880 | MATN3 | c.542G>T (p.Arg181Leu) | |
2 | g.20005992C= | CA2493007926 | MATN3 | c.542G= (p.Arg181=) | |
2 | g.20005992C>G | CA345950881 | MATN3 | c.542G>C (p.Arg181Pro) | |
2 | g.20005992C>T | CA1543952 | MATN3 | c.542G>A (p.Arg181Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005993G>A | CA1543954 | MATN3 | c.541C>T (p.Arg181Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005993G>C | CA1543953 | MATN3 | c.541C>G (p.Arg181Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20005993G= | CA2493007927 | MATN3 | c.541C= (p.Arg181=) | |
2 | g.20005993G>T | CA425341115 | MATN3 | c.541C>A (p.Arg181=) | |
2 | g.20005994A>C | CA425341116 | MATN3 | c.540T>G (p.Ala180=) | |
2 | g.20005994A>G | CA425341117 | MATN3 | c.540T>C (p.Ala180=) | |
2 | g.20005994A>T | CA425341118 | MATN3 | c.540T>A (p.Ala180=) | |
2 | g.20005995G>A | CA345950882 | MATN3 | c.539C>T (p.Ala180Val) | |
2 | g.20005995G>C | CA345950883 | MATN3 | c.539C>G (p.Ala180Gly) | |
2 | g.20005995G>T | CA345950884 | MATN3 | c.539C>A (p.Ala180Asp) | |
2 | g.20005996C>A | CA345950885 | MATN3 | c.538G>T (p.Ala180Ser) | gnomAD v4 |
2 | g.20005996C>G | CA345950886 | MATN3 | c.538G>C (p.Ala180Pro) | |
2 | g.20005996C>T | CA345950887 | MATN3 | c.538G>A (p.Ala180Thr) | |
2 | g.20005999del | CA2658010993 | MATN3 | c.538del (p.Ala180LeufsTer24) | gnomAD v4 |
2 | g.20005997C>A | CA425341119 | MATN3 | c.537G>T (p.Gly179=) | |
2 | g.20005997C= | CA2493007928 | MATN3 | c.537G= (p.Gly179=) | |
2 | g.20005997C>G | CA425341120 | MATN3 | c.537G>C (p.Gly179=) | |
2 | g.20005997C>T | CA1543955 | MATN3 | c.537G>A (p.Gly179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20005998C>A | CA345950888 | MATN3 | c.536G>T (p.Gly179Val) | |
2 | g.20005998C= | CA2493007929 | MATN3 | c.536G= (p.Gly179=) | |
2 | g.20005998C>G | CA345950890 | MATN3 | c.536G>C (p.Gly179Ala) | |
2 | g.20005998C>T | CA345950889 | MATN3 | c.536G>A (p.Gly179Glu) | dbSNP gnomAD v4 |
2 | g.20005999C>A | CA345950891 | MATN3 | c.535G>T (p.Gly179Trp) | |
2 | g.20005999C= | CA2493007930 | MATN3 | c.535G= (p.Gly179=) | |
2 | g.20005999C>G | CA345950892 | MATN3 | c.535G>C (p.Gly179Arg) | |
2 | g.20005999C>T | CA345950893 | MATN3 | c.535G>A (p.Gly179Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006000T>A | CA425341123 | MATN3 | c.534A>T (p.Ala178=) | |
2 | g.20006000T>C | CA425341122 | MATN3 | c.534A>G (p.Ala178=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006000T>G | CA425341121 | MATN3 | c.534A>C (p.Ala178=) | |
2 | g.20006000T= | CA2493007931 | MATN3 | c.534A= (p.Ala178=) | |
2 | g.20006001G>A | CA345950894 | MATN3 | c.533C>T (p.Ala178Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20006001G>C | CA345950895 | MATN3 | c.533C>G (p.Ala178Gly) | gnomAD v4 |
2 | g.20006001G= | CA2493007932 | MATN3 | c.533C= (p.Ala178=) | |
2 | g.20006001G>T | CA345950896 | MATN3 | c.533C>A (p.Ala178Glu) | |
2 | g.20006002C>A | CA345950897 | MATN3 | c.532G>T (p.Ala178Ser) | |
2 | g.20006002C>G | CA345950898 | MATN3 | c.532G>C (p.Ala178Pro) | |
2 | g.20006002C>T | CA345950899 | MATN3 | c.532G>A (p.Ala178Thr) | |
2 | g.20006003C>A | CA345950900 | MATN3 | c.531G>T (p.Glu177Asp) | |
2 | g.20006003C= | CA2493007933 | MATN3 | c.531G= (p.Glu177=) | |
2 | g.20006003C>G | CA345950901 | MATN3 | c.531G>C (p.Glu177Asp) | |
2 | g.20006003C>T | CA425341124 | MATN3 | c.531G>A (p.Glu177=) | dbSNP gnomAD v4 |
2 | g.20006004T>A | CA345950904 | MATN3 | c.530A>T (p.Glu177Val) | |
2 | g.20006004T>C | CA345950903 | MATN3 | c.530A>G (p.Glu177Gly) | gnomAD v4 |
2 | g.20006004T>G | CA345950902 | MATN3 | c.530A>C (p.Glu177Ala) | gnomAD v4 |
2 | g.20006008_20006025del | CA2573133139 | MATN3 | c.513_530del (p.Asp171_Val176del) | ClinVar dbSNP |
2 | g.20006005C>A | CA345950905 | MATN3 | c.529G>T (p.Glu177Ter) | |
2 | g.20006005C>G | CA345950906 | MATN3 | c.529G>C (p.Glu177Gln) | |
2 | g.20006005C>T | CA345950907 | MATN3 | c.529G>A (p.Glu177Lys) | |
2 | g.20006006C>A | CA425341125 | MATN3 | c.528G>T (p.Val176=) | |
2 | g.20006006C= | CA2493007934 | MATN3 | c.528G= (p.Val176=) | |
2 | g.20006006C>G | CA425341127 | MATN3 | c.528G>C (p.Val176=) | |
2 | g.20006006C>T | CA425341126 | MATN3 | c.528G>A (p.Val176=) | dbSNP |
2 | g.20006007A>C | CA345950908 | MATN3 | c.527T>G (p.Val176Gly) | |
2 | g.20006007A>G | CA345950909 | MATN3 | c.527T>C (p.Val176Ala) | |
2 | g.20006007A>T | CA345950910 | MATN3 | c.527T>A (p.Val176Glu) | |
2 | g.20006008C>A | CA1543956 | MATN3 | c.526G>T (p.Val176Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006008C= | CA2493007935 | MATN3 | c.526G= (p.Val176=) | |
2 | g.20006008C>G | CA43403846 | MATN3 | c.526G>C (p.Val176Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006008C>T | CA345950911 | MATN3 | c.526G>A (p.Val176Met) | dbSNP |
2 | g.20006009T>A | CA425341128 | MATN3 | c.525A>T (p.Thr175=) | |
2 | g.20006009T>C | CA425341129 | MATN3 | c.525A>G (p.Thr175=) | |
2 | g.20006009T>G | CA425341130 | MATN3 | c.525A>C (p.Thr175=) | |
2 | g.20006010G>A | CA345950912 | MATN3 | c.524C>T (p.Thr175Ile) | gnomAD v4 |
2 | g.20006010G>C | CA345950913 | MATN3 | c.524C>G (p.Thr175Arg) | |
2 | g.20006010G= | CA2493007936 | MATN3 | c.524C= (p.Thr175=) | |
2 | g.20006010G>T | CA345950914 | MATN3 | c.524C>A (p.Thr175Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006011T>A | CA345950916 | MATN3 | c.523A>T (p.Thr175Ser) | |
2 | g.20006011T>C | CA345950915 | MATN3 | c.523A>G (p.Thr175Ala) | gnomAD v4 |
2 | g.20006011T>G | CA1543957 | MATN3 | c.523A>C (p.Thr175Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006011T= | CA2493007937 | MATN3 | c.523A= (p.Thr175=) | |
2 | g.20006012G>A | CA425341131 | MATN3 | c.522C>T (p.Phe174=) | |
2 | g.20006012G>C | CA345950918 | MATN3 | c.522C>G (p.Phe174Leu) | |
2 | g.20006012G>T | CA345950917 | MATN3 | c.522C>A (p.Phe174Leu) | |
2 | g.20006013A>C | CA345950919 | MATN3 | c.521T>G (p.Phe174Cys) | |
2 | g.20006013A>G | CA345950920 | MATN3 | c.521T>C (p.Phe174Ser) | ClinVar |
2 | g.20006013A>T | CA345950921 | MATN3 | c.521T>A (p.Phe174Tyr) | |
2 | g.20006014A= | CA2493007938 | MATN3 | c.520T= (p.Phe174=) | |
2 | g.20006014A>C | CA345950922 | MATN3 | c.520T>G (p.Phe174Val) | ClinVar dbSNP |
2 | g.20006014A>G | CA345950923 | MATN3 | c.520T>C (p.Phe174Leu) | |
2 | g.20006014A>T | CA345950924 | MATN3 | c.520T>A (p.Phe174Ile) | |
2 | g.20006015G>A | CA425341132 | MATN3 | c.519C>T (p.Ala173=) | COSMIC |
2 | g.20006015G>C | CA425341133 | MATN3 | c.519C>G (p.Ala173=) | |
2 | g.20006015G>T | CA425341134 | MATN3 | c.519C>A (p.Ala173=) | |
2 | g.20006016G>A | CA1543958 | MATN3 | c.518C>T (p.Ala173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20006016G>C | CA345950925 | MATN3 | c.518C>G (p.Ala173Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006016G= | CA2493007939 | MATN3 | c.518C= (p.Ala173=) | |
2 | g.20006016G>T | CA241466 | MATN3 | c.518C>A (p.Ala173Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.20006017C>A | CA345950926 | MATN3 | c.517G>T (p.Ala173Ser) | |
2 | g.20006017C>G | CA345950927 | MATN3 | c.517G>C (p.Ala173Pro) | |
2 | g.20006017C>T | CA345950928 | MATN3 | c.517G>A (p.Ala173Thr) | |
2 | g.20006018T>A | CA345950929 | MATN3 | c.516A>T (p.Glu172Asp) | |
2 | g.20006018T>C | CA425341135 | MATN3 | c.516A>G (p.Glu172=) | |
2 | g.20006018T>G | CA345950930 | MATN3 | c.516A>C (p.Glu172Asp) | |
2 | g.20006019T>A | CA345950931 | MATN3 | c.515A>T (p.Glu172Val) | |
2 | g.20006019T>C | CA345950933 | MATN3 | c.515A>G (p.Glu172Gly) | dbSNP gnomAD v4 |
2 | g.20006019T>G | CA345950932 | MATN3 | c.515A>C (p.Glu172Ala) | |
2 | g.20006019T= | CA2493007940 | MATN3 | c.515A= (p.Glu172=) | |
2 | g.20006020C>A | CA345950934 | MATN3 | c.514G>T (p.Glu172Ter) | |
2 | g.20006020C= | CA2493007941 | MATN3 | c.514G= (p.Glu172=) | |
2 | g.20006020C>G | CA345950935 | MATN3 | c.514G>C (p.Glu172Gln) | |
2 | g.20006020C>T | CA43403860 | MATN3 | c.514G>A (p.Glu172Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006021G>A | CA1543959 | MATN3 | c.513C>T (p.Asp171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006021G>C | CA345950936 | MATN3 | c.513C>G (p.Asp171Glu) | |
2 | g.20006021G= | CA2493007942 | MATN3 | c.513C= (p.Asp171=) | |
2 | g.20006021G>T | CA345950937 | MATN3 | c.513C>A (p.Asp171Glu) | |
2 | g.20006022T>A | CA345950938 | MATN3 | c.512A>T (p.Asp171Val) | |
2 | g.20006022T>C | CA345950939 | MATN3 | c.512A>G (p.Asp171Gly) | |
2 | g.20006022T>G | CA345950940 | MATN3 | c.512A>C (p.Asp171Ala) | |
2 | g.20006023C>A | CA345950941 | MATN3 | c.511G>T (p.Asp171Tyr) | |
2 | g.20006023C= | CA2493007943 | MATN3 | c.511G= (p.Asp171=) | |
2 | g.20006023C>G | CA345950942 | MATN3 | c.511G>C (p.Asp171His) | |
2 | g.20006023C>T | CA1543960 | MATN3 | c.511G>A (p.Asp171Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006024C>A | CA345950943 | MATN3 | c.510G>T (p.Met170Ile) | |
2 | g.20006024C= | CA2493007944 | MATN3 | c.510G= (p.Met170=) | |
2 | g.20006024C>G | CA345950944 | MATN3 | c.510G>C (p.Met170Ile) | |
2 | g.20006024C>T | CA1543961 | MATN3 | c.510G>A (p.Met170Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006025A>C | CA345950945 | MATN3 | c.509T>G (p.Met170Arg) | |
2 | g.20006025A>G | CA345950946 | MATN3 | c.509T>C (p.Met170Thr) | gnomAD v4 COSMIC |
2 | g.20006025A>T | CA345950947 | MATN3 | c.509T>A (p.Met170Lys) | |
2 | g.20006026T>A | CA345950948 | MATN3 | c.508A>T (p.Met170Leu) | |
2 | g.20006026T>C | CA345950949 | MATN3 | c.508A>G (p.Met170Val) | |
2 | g.20006026T>G | CA345950950 | MATN3 | c.508A>C (p.Met170Leu) | |
2 | g.20006027T>A | CA425339807 | MATN3 | c.507A>T (p.Ala169=) | |
2 | g.20006027T>C | CA425339808 | MATN3 | c.507A>G (p.Ala169=) | |
2 | g.20006027T>G | CA425339809 | MATN3 | c.507A>C (p.Ala169=) | |
2 | g.20006028G>A | CA345950951 | MATN3 | c.506C>T (p.Ala169Val) | dbSNP |
2 | g.20006028G>C | CA345950952 | MATN3 | c.506C>G (p.Ala169Gly) | |
2 | g.20006028G= | CA2493007945 | MATN3 | c.506C= (p.Ala169=) | |
2 | g.20006028G>T | CA345950953 | MATN3 | c.506C>A (p.Ala169Glu) | |
2 | g.20006029C>A | CA345950954 | MATN3 | c.505G>T (p.Ala169Ser) | |
2 | g.20006029C= | CA2493007946 | MATN3 | c.505G= (p.Ala169=) | |
2 | g.20006029C>G | CA345950955 | MATN3 | c.505G>C (p.Ala169Pro) | |
2 | g.20006029C>T | CA345950956 | MATN3 | c.505G>A (p.Ala169Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20006030T>A | CA425339810 | MATN3 | c.504A>T (p.Thr168=) | |
2 | g.20006030T>C | CA425339811 | MATN3 | c.504A>G (p.Thr168=) | |
2 | g.20006030T>G | CA425339812 | MATN3 | c.504A>C (p.Thr168=) | |
2 | g.20006031G>A | CA345950959 | MATN3 | c.503C>T (p.Thr168Ile) | gnomAD v4 COSMIC |
2 | g.20006031G>C | CA345950957 | MATN3 | c.503C>G (p.Thr168Arg) | gnomAD v4 |
2 | g.20006031G= | CA2493007947 | MATN3 | c.503C= (p.Thr168=) | |
2 | g.20006031G>T | CA345950958 | MATN3 | c.503C>A (p.Thr168Lys) | dbSNP |
2 | g.20006032T>A | CA43403882 | MATN3 | c.502A>T (p.Thr168Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20006032T>C | CA345950960 | MATN3 | c.502A>G (p.Thr168Ala) | |
2 | g.20006032T>G | CA345950961 | MATN3 | c.502A>C (p.Thr168Pro) | |
2 | g.20006032T= | CA2493007948 | MATN3 | c.502A= (p.Thr168=) | |
2 | g.20006033C>A | CA345950962 | MATN3 | c.501G>T (p.Gln167His) | COSMIC |
2 | g.20006033C= | CA2493007949 | MATN3 | c.501G= (p.Gln167=) | |
2 | g.20006033C>G | CA345950963 | MATN3 | c.501G>C (p.Gln167His) | dbSNP gnomAD v4 |
2 | g.20006033C>T | CA425339813 | MATN3 | c.501G>A (p.Gln167=) | |
2 | g.20006034T>A | CA345950964 | MATN3 | c.500A>T (p.Gln167Leu) | |
2 | g.20006034T>C | CA345950965 | MATN3 | c.500A>G (p.Gln167Arg) | gnomAD v4 |
2 | g.20006034T>G | CA345950966 | MATN3 | c.500A>C (p.Gln167Pro) | |
2 | g.20006035G>A | CA345950967 | MATN3 | c.499C>T (p.Gln167Ter) | COSMIC |
2 | g.20006035G>C | CA345950968 | MATN3 | c.499C>G (p.Gln167Glu) | |
2 | g.20006035G>T | CA345950969 | MATN3 | c.499C>A (p.Gln167Lys) | |
2 | g.20006036G>A | CA425339814 | MATN3 | c.498C>T (p.Ile166=) | |
2 | g.20006036G>C | CA345950970 | MATN3 | c.498C>G (p.Ile166Met) | |
2 | g.20006036G>T | CA425339815 | MATN3 | c.498C>A (p.Ile166=) | |
2 | g.20006037A>C | CA345950972 | MATN3 | c.497T>G (p.Ile166Ser) | |
2 | g.20006037A>G | CA345950973 | MATN3 | c.497T>C (p.Ile166Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.20006037A>T | CA345950971 | MATN3 | c.497T>A (p.Ile166Asn) | |
2 | g.20006038T>A | CA1543962 | MATN3 | c.496A>T (p.Ile166Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20006038T>C | CA345950975 | MATN3 | c.496A>G (p.Ile166Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006038T>G | CA345950974 | MATN3 | c.496A>C (p.Ile166Leu) | |
2 | g.20006038T= | CA2493007950 | MATN3 | c.496A= (p.Ile166=) | |
2 | g.20006039G>A | CA425339816 | MATN3 | c.495C>T (p.Ala165=) | |
2 | g.20006039G>C | CA425339817 | MATN3 | c.495C>G (p.Ala165=) | |
2 | g.20006039G>T | CA425339818 | MATN3 | c.495C>A (p.Ala165=) | |
2 | g.20006040G>A | CA345950976 | MATN3 | c.494C>T (p.Ala165Val) | |
2 | g.20006040G>C | CA345950978 | MATN3 | c.494C>G (p.Ala165Gly) | |
2 | g.20006040G>T | CA345950977 | MATN3 | c.494C>A (p.Ala165Asp) | |
2 | g.20006041C>A | CA345950979 | MATN3 | c.493G>T (p.Ala165Ser) | |
2 | g.20006041C>G | CA345950980 | MATN3 | c.493G>C (p.Ala165Pro) | |
2 | g.20006041C>T | CA345950981 | MATN3 | c.493G>A (p.Ala165Thr) | |
2 | g.20006042T>A | CA425339819 | MATN3 | c.492A>T (p.Leu164=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20006042T>C | CA425339820 | MATN3 | c.492A>G (p.Leu164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006042T>G | CA425339821 | MATN3 | c.492A>C (p.Leu164=) | gnomAD v4 |
2 | g.20006042T= | CA2493007951 | MATN3 | c.492A= (p.Leu164=) | |
2 | g.20006043A>C | CA345950982 | MATN3 | c.491T>G (p.Leu164Arg) | |
2 | g.20006043A>G | CA345950983 | MATN3 | c.491T>C (p.Leu164Pro) | |
2 | g.20006043A>T | CA345950984 | MATN3 | c.491T>A (p.Leu164Gln) | |
2 | g.20006044G>A | CA425339822 | MATN3 | c.490C>T (p.Leu164=) | gnomAD v4 |
2 | g.20006044G>C | CA1543963 | MATN3 | c.490C>G (p.Leu164Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.20006044G= | CA2493007952 | MATN3 | c.490C= (p.Leu164=) | |
2 | g.20006044G>T | CA345950985 | MATN3 | c.490C>A (p.Leu164Ile) | |
2 | g.20006045G>A | CA425339823 | MATN3 | c.489C>T (p.Gly163=) | dbSNP |
2 | g.20006045G>C | CA425339824 | MATN3 | c.489C>G (p.Gly163=) | |
2 | g.20006045G= | CA2493007953 | MATN3 | c.489C= (p.Gly163=) | |
2 | g.20006045G>T | CA425339825 | MATN3 | c.489C>A (p.Gly163=) | |
2 | g.20006046C>A | CA345950986 | MATN3 | c.488G>T (p.Gly163Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006046C= | CA2493007954 | MATN3 | c.488G= (p.Gly163=) | |
2 | g.20006046C>G | CA345950987 | MATN3 | c.488G>C (p.Gly163Ala) | |
2 | g.20006046C>T | CA345950988 | MATN3 | c.488G>A (p.Gly163Asp) | gnomAD v4 |
2 | g.20006047C>A | CA345950989 | MATN3 | c.487G>T (p.Gly163Cys) | |
2 | g.20006047C= | CA2493007955 | MATN3 | c.487G= (p.Gly163=) | |
2 | g.20006047C>G | CA345950991 | MATN3 | c.487G>C (p.Gly163Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.20006047C>T | CA345950990 | MATN3 | c.487G>A (p.Gly163Ser) | |
2 | g.20006048T>A | CA425339826 | MATN3 | c.486A>T (p.Ser162=) | |
2 | g.20006048T>C | CA425339827 | MATN3 | c.486A>G (p.Ser162=) | |
2 | g.20006048T>G | CA425339828 | MATN3 | c.486A>C (p.Ser162=) | |
2 | g.20006049G>A | CA345950992 | MATN3 | c.485C>T (p.Ser162Leu) | |
2 | g.20006049G>C | CA345950993 | MATN3 | c.485C>G (p.Ser162Ter) | |
2 | g.20006049G>T | CA345950994 | MATN3 | c.485C>A (p.Ser162Ter) | |
2 | g.20006050A= | CA2493007956 | MATN3 | c.484T= (p.Ser162=) | |
2 | g.20006050A>C | CA345950995 | MATN3 | c.484T>G (p.Ser162Ala) | |
2 | g.20006050A>G | CA345950996 | MATN3 | c.484T>C (p.Ser162Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.20006050A>T | CA345950997 | MATN3 | c.484T>A (p.Ser162Thr) | |
2 | g.20006051C>A | CA345950998 | MATN3 | c.483G>T (p.Met161Ile) | |
2 | g.20006051C>G | CA345950999 | MATN3 | c.483G>C (p.Met161Ile) | |
2 | g.20006051C>T | CA345951000 | MATN3 | c.483G>A (p.Met161Ile) | |
2 | g.20006052A= | CA2493007957 | MATN3 | c.482T= (p.Met161=) | |
2 | g.20006052A>C | CA345951002 | MATN3 | c.482T>G (p.Met161Arg) | |
2 | g.20006052A>G | CA345951003 | MATN3 | c.482T>C (p.Met161Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.20006052A>T | CA345951001 | MATN3 | c.482T>A (p.Met161Lys) | |
2 | g.20006053T>A | CA345951004 | MATN3 | c.481A>T (p.Met161Leu) | |
2 | g.20006053T>C | CA1543964 | MATN3 | c.481A>G (p.Met161Val) | dbSNP ExAC gnomAD v2 |
2 | g.20006053T>G | CA345951005 | MATN3 | c.481A>C (p.Met161Leu) | |
2 | g.20006053T= | CA2493007958 | MATN3 | c.481A= (p.Met161=) |