Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991458_188991477del | CA2662287808 | COL3A1 | c.853-29_853-10del (n.853-29_853-10del) | gnomAD v4 |
2 | g.188991477A= | CA1315396587 | COL3A1 | c.853-10A= (n.853-10A=) | |
2 | g.188991477A>C | CA913187969 | COL3A1 | c.853-10A>C (n.853-10A>C) | ClinVar dbSNP |
2 | g.188991477A>G | CA2662287827 | COL3A1 | c.853-10A>G (n.853-10A>G) | gnomAD v4 |
2 | g.188991477A>T | CA2662287828 | COL3A1 | c.853-10A>T (n.853-10A>T) | gnomAD v4 |
2 | g.188991478T>C | CA2662287829 | COL3A1 | c.853-9T>C (n.853-9T>C) | gnomAD v4 |
2 | g.188991479G>A | CA077011 | COL3A1 | c.853-8G>A (n.853-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991479G= | CA1315396589 | COL3A1 | c.853-8G= (n.853-8G=) | |
2 | g.188991480T>C | CA077009 | COL3A1 | c.853-7T>C (n.853-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991480T= | CA1315396593 | COL3A1 | c.853-7T= (n.853-7T=) | |
2 | g.188991481A>G | CA2662287830 | COL3A1 | c.853-6A>G (n.853-6A>G) | gnomAD v4 |
2 | g.188991482T>C | CA2577185234 | COL3A1 | c.853-5T>C (n.853-5T>C) | |
2 | g.188991482T>G | CA2662287831 | COL3A1 | c.853-5T>G (n.853-5T>G) | gnomAD v4 |
2 | g.188991483C>A | CA2662287832 | COL3A1 | c.853-4C>A (n.853-4C>A) | gnomAD v4 |
2 | g.188991483C= | CA1315396600 | COL3A1 | c.853-4C= (n.853-4C=) | |
2 | g.188991483C>G | CA913187970 | COL3A1 | c.853-4C>G (n.853-4C>G) | ClinVar dbSNP |
2 | g.188991483C>T | CA913187971 | COL3A1 | c.853-4C>T (n.853-4C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.188991484T>C | CA2662287833 | COL3A1 | c.853-3T>C (n.853-3T>C) | gnomAD v4 |
2 | g.188991485A>C | CA349849856 | COL3A1 | c.853-2A>C (n.853-2A>C) | |
2 | g.188991485A>G | CA349849857 | COL3A1 | c.853-2A>G (n.853-2A>G) | gnomAD v4 |
2 | g.188991485A>T | CA349849858 | COL3A1 | c.853-2A>T (n.853-2A>T) | |
2 | g.188991486G>A | CA349849861 | COL3A1 | c.853-1G>A (n.853-1G>A) | |
2 | g.188991486G>C | CA349849860 | COL3A1 | c.853-1G>C (n.853-1G>C) | |
2 | g.188991486G>T | CA349849859 | COL3A1 | c.853-1G>T (n.853-1G>T) | |
2 | g.188991487G>A | CA349849862 | COL3A1 | c.853G>A (p.Gly285Ser) | |
2 | g.188991487G>C | CA349849863 | COL3A1 | c.853G>C (p.Gly285Arg) | |
2 | g.188991487G>T | CA349849864 | COL3A1 | c.853G>T (p.Gly285Cys) | |
2 | g.188991488G>A | CA349849865 | COL3A1 | c.854G>A (p.Gly285Asp) | |
2 | g.188991488G>C | CA349849866 | COL3A1 | c.854G>C (p.Gly285Ala) | |
2 | g.188991488G>T | CA349849867 | COL3A1 | c.854G>T (p.Gly285Val) | |
2 | g.188991489T>A | CA430309156 | COL3A1 | c.855T>A (p.Gly285=) | |
2 | g.188991489T>C | CA430309157 | COL3A1 | c.855T>C (p.Gly285=) | |
2 | g.188991489T>G | CA430309158 | COL3A1 | c.855T>G (p.Gly285=) | gnomAD v4 |
2 | g.188991490G>A | CA349849868 | COL3A1 | c.856G>A (p.Glu286Lys) | gnomAD v4 |
2 | g.188991490G>C | CA349849870 | COL3A1 | c.856G>C (p.Glu286Gln) | |
2 | g.188991490G>T | CA349849869 | COL3A1 | c.856G>T (p.Glu286Ter) | |
2 | g.188991491A>C | CA349849871 | COL3A1 | c.857A>C (p.Glu286Ala) | |
2 | g.188991491A>G | CA349849872 | COL3A1 | c.857A>G (p.Glu286Gly) | |
2 | g.188991491A>T | CA349849873 | COL3A1 | c.857A>T (p.Glu286Val) | |
2 | g.188991494del | CA2662287834 | COL3A1 | c.860del (p.Asn287MetfsTer?) | gnomAD v4 |
2 | g.188991492A= | CA1315396605 | COL3A1 | c.858A= (p.Glu286=) | |
2 | g.188991492A>C | CA077013 | COL3A1 | c.858A>C (p.Glu286Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991492A>G | CA430309159 | COL3A1 | c.858A>G (p.Glu286=) | |
2 | g.188991492A>T | CA349849874 | COL3A1 | c.858A>T (p.Glu286Asp) | |
2 | g.188991493A>C | CA349849875 | COL3A1 | c.859A>C (p.Asn287His) | |
2 | g.188991493A>G | CA349849876 | COL3A1 | c.859A>G (p.Asn287Asp) | gnomAD v4 |
2 | g.188991493A>T | CA349849877 | COL3A1 | c.859A>T (p.Asn287Tyr) | |
2 | g.188991494A>C | CA349849878 | COL3A1 | c.860A>C (p.Asn287Thr) | |
2 | g.188991494A>G | CA349849879 | COL3A1 | c.860A>G (p.Asn287Ser) | |
2 | g.188991494A>T | CA349849880 | COL3A1 | c.860A>T (p.Asn287Ile) | |
2 | g.188991495T>A | CA349849881 | COL3A1 | c.861T>A (p.Asn287Lys) | |
2 | g.188991495T>C | CA430309160 | COL3A1 | c.861T>C (p.Asn287=) | |
2 | g.188991495T>G | CA349849882 | COL3A1 | c.861T>G (p.Asn287Lys) | |
2 | g.188991496G>A | CA349849883 | COL3A1 | c.862G>A (p.Gly288Ser) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188991496G>C | CA349849885 | COL3A1 | c.862G>C (p.Gly288Arg) | |
2 | g.188991496G= | CA1315396610 | COL3A1 | c.862G= (p.Gly288=) | |
2 | g.188991496G>T | CA349849884 | COL3A1 | c.862G>T (p.Gly288Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991497G>A | CA349849886 | COL3A1 | c.863G>A (p.Gly288Asp) | |
2 | g.188991497G>C | CA349849887 | COL3A1 | c.863G>C (p.Gly288Ala) | |
2 | g.188991497G>T | CA349849888 | COL3A1 | c.863G>T (p.Gly288Val) | |
2 | g.188991498T>A | CA430309162 | COL3A1 | c.864T>A (p.Gly288=) | |
2 | g.188991498T>C | CA430309163 | COL3A1 | c.864T>C (p.Gly288=) | |
2 | g.188991498T>G | CA430309161 | COL3A1 | c.864T>G (p.Gly288=) | |
2 | g.188991499C>A | CA349849889 | COL3A1 | c.865C>A (p.Leu289Ile) | COSMIC |
2 | g.188991499C>G | CA349849890 | COL3A1 | c.865C>G (p.Leu289Val) | |
2 | g.188991499C>T | CA349849891 | COL3A1 | c.865C>T (p.Leu289Phe) | |
2 | g.188991500T>A | CA349849892 | COL3A1 | c.866T>A (p.Leu289His) | |
2 | g.188991500T>C | CA349849893 | COL3A1 | c.866T>C (p.Leu289Pro) | |
2 | g.188991500T>G | CA349849894 | COL3A1 | c.866T>G (p.Leu289Arg) | |
2 | g.188991501T>A | CA430309164 | COL3A1 | c.867T>A (p.Leu289=) | |
2 | g.188991501T>C | CA430309166 | COL3A1 | c.867T>C (p.Leu289=) | |
2 | g.188991501T>G | CA430309165 | COL3A1 | c.867T>G (p.Leu289=) | |
2 | g.188991502C>A | CA349849895 | COL3A1 | c.868C>A (p.Pro290Thr) | |
2 | g.188991502C= | CA1315396614 | COL3A1 | c.868C= (p.Pro290=) | |
2 | g.188991502C>G | CA349849896 | COL3A1 | c.868C>G (p.Pro290Ala) | |
2 | g.188991502C>T | CA349849897 | COL3A1 | c.868C>T (p.Pro290Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991503C>A | CA349849900 | COL3A1 | c.869C>A (p.Pro290Gln) | gnomAD v4 |
2 | g.188991503C= | CA1315396615 | COL3A1 | c.869C= (p.Pro290=) | |
2 | g.188991503C>G | CA349849898 | COL3A1 | c.869C>G (p.Pro290Arg) | |
2 | g.188991503C>T | CA349849899 | COL3A1 | c.869C>T (p.Pro290Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.188991504A>C | CA430309167 | COL3A1 | c.870A>C (p.Pro290=) | |
2 | g.188991504A>G | CA430309168 | COL3A1 | c.870A>G (p.Pro290=) | gnomAD v4 |
2 | g.188991504A>T | CA430309169 | COL3A1 | c.870A>T (p.Pro290=) | |
2 | g.188991505G>A | CA349849901 | COL3A1 | c.871G>A (p.Gly291Ser) | |
2 | g.188991505G>C | CA349849902 | COL3A1 | c.871G>C (p.Gly291Arg) | |
2 | g.188991505G>T | CA349849903 | COL3A1 | c.871G>T (p.Gly291Cys) | |
2 | g.188991506G>A | CA349849904 | COL3A1 | c.872G>A (p.Gly291Asp) | |
2 | g.188991506G>C | CA349849905 | COL3A1 | c.872G>C (p.Gly291Ala) | |
2 | g.188991506G>T | CA349849906 | COL3A1 | c.872G>T (p.Gly291Val) | |
2 | g.188991507C>A | CA430309170 | COL3A1 | c.873C>A (p.Gly291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.188991507C= | CA1315396621 | COL3A1 | c.873C= (p.Gly291=) | |
2 | g.188991507C>G | CA077015 | COL3A1 | c.873C>G (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991507C>T | CA077017 | COL3A1 | c.873C>T (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>A | CA077019 | COL3A1 | c.874G>A (p.Glu292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>C | CA349849907 | COL3A1 | c.874G>C (p.Glu292Gln) | dbSNP gnomAD v2 |
2 | g.188991508G= | CA1315396629 | COL3A1 | c.874G= (p.Glu292=) | |
2 | g.188991508G>T | CA349849908 | COL3A1 | c.874G>T (p.Glu292Ter) | |
2 | g.188991509A>C | CA349849911 | COL3A1 | c.875A>C (p.Glu292Ala) | |
2 | g.188991509A>G | CA349849910 | COL3A1 | c.875A>G (p.Glu292Gly) | |
2 | g.188991509A>T | CA349849909 | COL3A1 | c.875A>T (p.Glu292Val) | |
2 | g.188991510A= | CA1315396630 | COL3A1 | c.876A= (p.Glu292=) | |
2 | g.188991510A>C | CA349849912 | COL3A1 | c.876A>C (p.Glu292Asp) | |
2 | g.188991510A>G | CA430309171 | COL3A1 | c.876A>G (p.Glu292=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991510A>T | CA349849913 | COL3A1 | c.876A>T (p.Glu292Asp) | |
2 | g.188991511A= | CA1315396631 | COL3A1 | c.877A= (p.Asn293=) | |
2 | g.188991511A>C | CA349849914 | COL3A1 | c.877A>C (p.Asn293His) | |
2 | g.188991511A>G | CA349849915 | COL3A1 | c.877A>G (p.Asn293Asp) | ClinVar dbSNP |
2 | g.188991511A>T | CA349849916 | COL3A1 | c.877A>T (p.Asn293Tyr) | |
2 | g.188991512A= | CA1315396633 | COL3A1 | c.878A= (p.Asn293=) | |
2 | g.188991512A>C | CA349849917 | COL3A1 | c.878A>C (p.Asn293Thr) | |
2 | g.188991512A>G | CA349849918 | COL3A1 | c.878A>G (p.Asn293Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991512A>T | CA349849919 | COL3A1 | c.878A>T (p.Asn293Ile) | |
2 | g.188991513T>A | CA349849920 | COL3A1 | c.879T>A (p.Asn293Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.188991513T>C | CA430309172 | COL3A1 | c.879T>C (p.Asn293=) | |
2 | g.188991513T>G | CA349849921 | COL3A1 | c.879T>G (p.Asn293Lys) | |
2 | g.188991513T= | CA1315396635 | COL3A1 | c.879T= (p.Asn293=) | |
2 | g.188991514G>A | CA349849922 | COL3A1 | c.880G>A (p.Gly294Arg) | ClinVar dbSNP |
2 | g.188991514G>C | CA349849923 | COL3A1 | c.880G>C (p.Gly294Arg) | |
2 | g.188991514G>T | CA349849924 | COL3A1 | c.880G>T (p.Gly294Ter) | |
2 | g.188991515G>A | CA349849927 | COL3A1 | c.881G>A (p.Gly294Glu) | gnomAD v4 COSMIC |
2 | g.188991515G>C | CA349849925 | COL3A1 | c.881G>C (p.Gly294Ala) | |
2 | g.188991515G>T | CA349849926 | COL3A1 | c.881G>T (p.Gly294Val) | |
2 | g.188991516A>C | CA430309173 | COL3A1 | c.882A>C (p.Gly294=) | |
2 | g.188991516A>G | CA430309174 | COL3A1 | c.882A>G (p.Gly294=) | |
2 | g.188991516A>T | CA430309175 | COL3A1 | c.882A>T (p.Gly294=) | |
2 | g.188991517G>A | CA349849928 | COL3A1 | c.883G>A (p.Ala295Thr) | |
2 | g.188991517G>C | CA349849929 | COL3A1 | c.883G>C (p.Ala295Pro) | dbSNP gnomAD v4 |
2 | g.188991517G= | CA1315396636 | COL3A1 | c.883G= (p.Ala295=) | |
2 | g.188991517G>T | CA349849930 | COL3A1 | c.883G>T (p.Ala295Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991518C>A | CA349849931 | COL3A1 | c.884C>A (p.Ala295Asp) | |
2 | g.188991518C= | CA1315396638 | COL3A1 | c.884C= (p.Ala295=) | |
2 | g.188991518C>G | CA349849932 | COL3A1 | c.884C>G (p.Ala295Gly) | |
2 | g.188991518C>T | CA62592729 | COL3A1 | c.884C>T (p.Ala295Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188991519T>A | CA430309176 | COL3A1 | c.885T>A (p.Ala295=) | |
2 | g.188991519T>C | CA430309177 | COL3A1 | c.885T>C (p.Ala295=) | ClinVar dbSNP |
2 | g.188991519T>G | CA430309178 | COL3A1 | c.885T>G (p.Ala295=) | |
2 | g.188991519T= | CA1315396640 | COL3A1 | c.885T= (p.Ala295=) | |
2 | g.188991520C>A | CA349849933 | COL3A1 | c.886C>A (p.Pro296Thr) | |
2 | g.188991520C>G | CA349849934 | COL3A1 | c.886C>G (p.Pro296Ala) | |
2 | g.188991520C>T | CA349849935 | COL3A1 | c.886C>T (p.Pro296Ser) | gnomAD v4 |
2 | g.188991521C>A | CA349849936 | COL3A1 | c.887C>A (p.Pro296His) | |
2 | g.188991521C>G | CA349849937 | COL3A1 | c.887C>G (p.Pro296Arg) | |
2 | g.188991521C>T | CA349849938 | COL3A1 | c.887C>T (p.Pro296Leu) | |
2 | g.188991522T>A | CA430309180 | COL3A1 | c.888T>A (p.Pro296=) | |
2 | g.188991522T>C | CA430309181 | COL3A1 | c.888T>C (p.Pro296=) | |
2 | g.188991522T>G | CA430309179 | COL3A1 | c.888T>G (p.Pro296=) | ClinVar |
2 | g.188991523G>A | CA349849940 | COL3A1 | c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
2 | g.188991523G>C | CA349849941 | COL3A1 | c.889G>C (p.Gly297Arg) | |
2 | g.188991523G= | CA1315396643 | COL3A1 | c.889G= (p.Gly297=) | |
2 | g.188991523G>T | CA349849939 | COL3A1 | c.889G>T (p.Gly297Ter) | |
2 | g.188991524G>A | CA349849943 | COL3A1 | c.890G>A (p.Gly297Glu) | |
2 | g.188991524G>C | CA349849942 | COL3A1 | c.890G>C (p.Gly297Ala) | gnomAD v4 |
2 | g.188991524G>T | CA349849944 | COL3A1 | c.890G>T (p.Gly297Val) | |
2 | g.188991525A= | CA1315396645 | COL3A1 | c.891A= (p.Gly297=) | |
2 | g.188991525A>C | CA077025 | COL3A1 | c.891A>C (p.Gly297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991525A>G | CA430309183 | COL3A1 | c.891A>G (p.Gly297=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991525A>T | CA430309182 | COL3A1 | c.891A>T (p.Gly297=) | |
2 | g.188991526C>A | CA349849945 | COL3A1 | c.892C>A (p.Pro298Thr) | dbSNP |
2 | g.188991526C= | CA1315396647 | COL3A1 | c.892C= (p.Pro298=) | |
2 | g.188991526C>G | CA349849946 | COL3A1 | c.892C>G (p.Pro298Ala) | |
2 | g.188991526C>T | CA349849947 | COL3A1 | c.892C>T (p.Pro298Ser) | gnomAD v4 COSMIC |
2 | g.188991527C>A | CA349849948 | COL3A1 | c.893C>A (p.Pro298His) | |
2 | g.188991527C>G | CA349849949 | COL3A1 | c.893C>G (p.Pro298Arg) | |
2 | g.188991527C>T | CA349849950 | COL3A1 | c.893C>T (p.Pro298Leu) | |
2 | g.188991528C>A | CA430309184 | COL3A1 | c.894C>A (p.Pro298=) | |
2 | g.188991528C>G | CA430309186 | COL3A1 | c.894C>G (p.Pro298=) | |
2 | g.188991528C>T | CA430309185 | COL3A1 | c.894C>T (p.Pro298=) | gnomAD v4 |
2 | g.188991528_188991529delinsAT | CA645527367 | COL3A1 | c.894_895delinsAT (p.Met299Leu) | COSMIC COSMIC |
2 | g.188991529A= | CA1315396648 | COL3A1 | c.895A= (p.Met299=) | |
2 | g.188991529A>C | CA349849951 | COL3A1 | c.895A>C (p.Met299Leu) | |
2 | g.188991529A>G | CA349849952 | COL3A1 | c.895A>G (p.Met299Val) | ClinVar gnomAD v4 COSMIC |
2 | g.188991529A>T | CA349849953 | COL3A1 | c.895A>T (p.Met299Leu) | dbSNP gnomAD v4 |
2 | g.188991530T>A | CA349849954 | COL3A1 | c.896T>A (p.Met299Lys) | |
2 | g.188991530T>C | CA349849955 | COL3A1 | c.896T>C (p.Met299Thr) | gnomAD v4 |
2 | g.188991530T>G | CA349849956 | COL3A1 | c.896T>G (p.Met299Arg) | |
2 | g.188991531G>A | CA349849957 | COL3A1 | c.897G>A (p.Met299Ile) | |
2 | g.188991531G>C | CA349849959 | COL3A1 | c.897G>C (p.Met299Ile) | |
2 | g.188991531G>T | CA349849958 | COL3A1 | c.897G>T (p.Met299Ile) | |
2 | g.188991533_188991669del | CA2753572047 | COL3A1 | c.897+2_898del | |
2 | g.188991532G>A | CA16042456 | COL3A1 | c.897+1G>A (n.897+1G>A) | ClinVar dbSNP |
2 | g.188991532G>C | CA349849960 | COL3A1 | c.897+1G>C (n.897+1G>C) | |
2 | g.188991532G= | CA1315396650 | COL3A1 | c.897+1G= (n.897+1G=) | |
2 | g.188991532G>T | CA349849961 | COL3A1 | c.897+1G>T (n.897+1G>T) | |
2 | g.188991533T>A | CA349849962 | COL3A1 | c.897+2T>A (n.897+2T>A) | |
2 | g.188991533T>C | CA349849963 | COL3A1 | c.897+2T>C (n.897+2T>C) | |
2 | g.188991533T>G | CA349849964 | COL3A1 | c.897+2T>G (n.897+2T>G) | |
2 | g.188991534A>G | CA2662287838 | COL3A1 | c.897+3A>G (n.897+3A>G) | gnomAD v4 |
2 | g.188991535A= | CA1315396652 | COL3A1 | c.897+4A= (n.897+4A=) | |
2 | g.188991535A>G | CA10587527 | COL3A1 | c.897+4A>G (n.897+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991537T>G | CA2662287840 | COL3A1 | c.897+6T>G (n.897+6T>G) | gnomAD v4 |
2 | g.188991538A>C | CA2662287841 | COL3A1 | c.897+7A>C (n.897+7A>C) | gnomAD v4 |
2 | g.188991539T>C | CA2662287842 | COL3A1 | c.897+8T>C (n.897+8T>C) | gnomAD v4 |
2 | g.188991541T>C | CA077027 | COL3A1 | c.897+10T>C (n.897+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991541T= | CA1315396654 | COL3A1 | c.897+10T= (n.897+10T=) | |
2 | g.188991543T>A | CA2739278526 | COL3A1 | c.897+12T>A (n.897+12T>A) | ClinVar |
2 | g.188991546T>G | CA077029 | COL3A1 | c.897+15T>G (n.897+15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991546T= | CA1315396655 | COL3A1 | c.897+15T= (n.897+15T=) | |
2 | g.188991547dup | CA2021741 | COL3A1 | c.897+16dup (n.897+16dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991548T>A | CA1315396658 | COL3A1 | c.897+17T>A (n.897+17T>A) | dbSNP |
2 | g.188991548T>C | CA077031 | COL3A1 | c.897+17T>C (n.897+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991548T>G | CA2662287845 | COL3A1 | c.897+17T>G (n.897+17T>G) | gnomAD v4 |
2 | g.188991548T= | CA1315396657 | COL3A1 | c.897+17T= (n.897+17T=) | |
2 | g.188991550T>C | CA538441143 | COL3A1 | c.897+19T>C (n.897+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991550T= | CA1315396660 | COL3A1 | c.897+19T= (n.897+19T=) | |
2 | g.188991551del | CA2739278527 | COL3A1 | c.897+20del (n.897+20del) | ClinVar |
2 | g.188991551A>G | CA2740096378 | COL3A1 | c.897+20A>G (n.897+20A>G) | ClinVar |
2 | g.188991552T>A | CA077032 | COL3A1 | c.897+21T>A (n.897+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991552T>C | CA913089601 | COL3A1 | c.897+21T>C (n.897+21T>C) | gnomAD v4 |
2 | g.188991552T= | CA1315396661 | COL3A1 | c.897+21T= (n.897+21T=) | |
2 | g.188991554A>C | CA647380765 | COL3A1 | c.897+23A>C (n.897+23A>C) | COSMIC |
2 | g.188991554_188991555delinsAT | CA1315396662 | COL3A1 | c.897+23_897+24delinsAT (n.897+23_897+24delinsAT) | |
2 | g.188991555T>G | CA1315396665 | COL3A1 | c.897+24T>G (n.897+24T>G) | dbSNP |
2 | g.188991555T= | CA1315396664 | COL3A1 | c.897+24T= (n.897+24T=) | |
2 | g.188991558del | CA1315396663 | COL3A1 | c.897+27del (n.897+27del) | dbSNP |
2 | g.188991559C>T | CA2662287846 | COL3A1 | c.897+28C>T (n.897+28C>T) | gnomAD v4 |
2 | g.188991560A= | CA1315396667 | COL3A1 | c.897+29A= (n.897+29A=) | |
2 | g.188991560A>G | CA2662287847 | COL3A1 | c.897+29A>G (n.897+29A>G) | gnomAD v4 |
2 | g.188991560A>T | CA62592789 | COL3A1 | c.897+29A>T (n.897+29A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991561G>A | CA62592823 | COL3A1 | c.897+30G>A (n.897+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991561G= | CA1315396669 | COL3A1 | c.897+30G= (n.897+30G=) | |
2 | g.188991563T>G | CA077034 | COL3A1 | c.897+32T>G (n.897+32T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991563T= | CA1315396670 | COL3A1 | c.897+32T= (n.897+32T=) | |
2 | g.188991570_188991572del | CA2577185235 | COL3A1 | c.897+39_897+41del (n.897+39_897+41del) | |
2 | g.188991565T>G | CA2577185236 | COL3A1 | c.897+34T>G (n.897+34T>G) | |
2 | g.188991566_188991567del | CA077037 | COL3A1 | c.897+35_897+36del (n.897+35_897+36del) | |
2 | g.188991566A= | CA1315396671 | COL3A1 | c.897+35A= (n.897+35A=) | |
2 | g.188991566A>G | CA2021742 | COL3A1 | c.897+35A>G (n.897+35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991566A>T | CA2577185237 | COL3A1 | c.897+35A>T (n.897+35A>T) | |
2 | g.188991566_188991567delinsAT | CA1315396673 | COL3A1 | c.897+35_897+36delinsAT (n.897+35_897+36delinsAT) | |
2 | g.188991568del | CA2021743 | COL3A1 | c.897+37del (n.897+37del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991570T>A | CA1040405440 | COL3A1 | c.897+39T>A (n.897+39T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991570T>C | CA2577185238 | COL3A1 | c.897+39T>C (n.897+39T>C) | gnomAD v4 |
2 | g.188991570T= | CA1315396674 | COL3A1 | c.897+39T= (n.897+39T=) | |
2 | g.188991571T>A | CA1040405445 | COL3A1 | c.897+40T>A (n.897+40T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991571T= | CA1315396675 | COL3A1 | c.897+40T= (n.897+40T=) | |
2 | g.188991573A= | CA1315396678 | COL3A1 | c.897+42A= (n.897+42A=) | |
2 | g.188991573A>T | CA1315396676 | COL3A1 | c.897+42A>T (n.897+42A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991574C>A | CA077041 | COL3A1 | c.897+43C>A (n.897+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991574C= | CA1315396679 | COL3A1 | c.897+43C= (n.897+43C=) | |
2 | g.188991575C= | CA1315396680 | COL3A1 | c.897+44C= (n.897+44C=) | |
2 | g.188991575C>G | CA077043 | COL3A1 | c.897+44C>G (n.897+44C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991575C>T | CA2662287848 | COL3A1 | c.897+44C>T (n.897+44C>T) | gnomAD v4 |
2 | g.188991576T>A | CA2662287849 | COL3A1 | c.897+45T>A (n.897+45T>A) | gnomAD v4 |
2 | g.188991576T>G | CA2753572048 | COL3A1 | c.897+45T>G (n.897+45T>G) |