Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189050640C>ACA349867120COL5A2c.2968G>T (p.Gly990Trp)
c.1807G>T (p.Gly603Trp)
c.2830G>T (p.Gly944Trp)
 gnomAD v4
2g.189050640C=CA1315425043COL5A2c.2968G= (p.Gly990=)
c.1807G= (p.Gly603=)
c.2830G= (p.Gly944=)
2g.189050640C>GCA349867118COL5A2c.2968G>C (p.Gly990Arg)
c.1807G>C (p.Gly603Arg)
c.2830G>C (p.Gly944Arg)
2g.189050640C>TCA16617397COL5A2c.2968G>A (p.Gly990Arg)
c.1807G>A (p.Gly603Arg)
c.2830G>A (p.Gly944Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189050641G>ACA2022142COL5A2c.2967C>T (p.Thr989=)
c.1806C>T (p.Thr602=)
c.2829C>T (p.Thr943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050641G>CCA430322177COL5A2c.2967C>G (p.Thr989=)
c.1806C>G (p.Thr602=)
c.2829C>G (p.Thr943=)
2g.189050641G=CA1315425044COL5A2c.2967C= (p.Thr989=)
c.1806C= (p.Thr602=)
c.2829C= (p.Thr943=)
2g.189050641G>TCA430322178COL5A2c.2967C>A (p.Thr989=)
c.1806C>A (p.Thr602=)
c.2829C>A (p.Thr943=)
 gnomAD v4
2g.189050642G>ACA349867122COL5A2c.2966C>T (p.Thr989Ile)
c.1805C>T (p.Thr602Ile)
c.2828C>T (p.Thr943Ile)
 gnomAD v4
2g.189050642G>CCA349867124COL5A2c.2966C>G (p.Thr989Ser)
c.1805C>G (p.Thr602Ser)
c.2828C>G (p.Thr943Ser)
2g.189050642G>TCA349867126COL5A2c.2966C>A (p.Thr989Asn)
c.1805C>A (p.Thr602Asn)
c.2828C>A (p.Thr943Asn)
 gnomAD v4
2g.189050643T>ACA349867128COL5A2c.2965A>T (p.Thr989Ser)
c.1804A>T (p.Thr602Ser)
c.2827A>T (p.Thr943Ser)
 gnomAD v4
2g.189050643T>CCA349867130COL5A2c.2965A>G (p.Thr989Ala)
c.1804A>G (p.Thr602Ala)
c.2827A>G (p.Thr943Ala)
2g.189050643T>GCA349867132COL5A2c.2965A>C (p.Thr989Pro)
c.1804A>C (p.Thr602Pro)
c.2827A>C (p.Thr943Pro)
2g.189050644C>ACA430322185COL5A2c.2964G>T (p.Thr988=)
c.1803G>T (p.Thr601=)
c.2826G>T (p.Thr942=)
 gnomAD v4
2g.189050644C=CA1315425045COL5A2c.2964G= (p.Thr988=)
c.1803G= (p.Thr601=)
c.2826G= (p.Thr942=)
2g.189050644C>GCA430322186COL5A2c.2964G>C (p.Thr988=)
c.1803G>C (p.Thr601=)
c.2826G>C (p.Thr942=)
2g.189050644C>TCA16610653COL5A2c.2964G>A (p.Thr988=)
c.1803G>A (p.Thr601=)
c.2826G>A (p.Thr942=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050645G>ACA324402COL5A2c.2963C>T (p.Thr988Met)
c.1802C>T (p.Thr601Met)
c.2825C>T (p.Thr942Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050645G>CCA349867134COL5A2c.2963C>G (p.Thr988Arg)
c.1802C>G (p.Thr601Arg)
c.2825C>G (p.Thr942Arg)
2g.189050645G=CA1315425046COL5A2c.2963C= (p.Thr988=)
c.1802C= (p.Thr601=)
c.2825C= (p.Thr942=)
2g.189050645G>TCA349867136COL5A2c.2963C>A (p.Thr988Lys)
c.1802C>A (p.Thr601Lys)
c.2825C>A (p.Thr942Lys)
 dbSNP COSMIC
2g.189050646T>ACA349867138COL5A2c.2962A>T (p.Thr988Ser)
c.1801A>T (p.Thr601Ser)
c.2824A>T (p.Thr942Ser)
2g.189050646T>CCA349867140COL5A2c.2962A>G (p.Thr988Ala)
c.1801A>G (p.Thr601Ala)
c.2824A>G (p.Thr942Ala)
 gnomAD v4
2g.189050646T>GCA349867141COL5A2c.2962A>C (p.Thr988Pro)
c.1801A>C (p.Thr601Pro)
c.2824A>C (p.Thr942Pro)
2g.189050647T>ACA430322195COL5A2c.2961A>T (p.Gly987=)
c.1800A>T (p.Gly600=)
c.2823A>T (p.Gly941=)
2g.189050647T>CCA430322197COL5A2c.2961A>G (p.Gly987=)
c.1800A>G (p.Gly600=)
c.2823A>G (p.Gly941=)
 gnomAD v4
2g.189050647T>GCA430322199COL5A2c.2961A>C (p.Gly987=)
c.1800A>C (p.Gly600=)
c.2823A>C (p.Gly941=)
2g.189050648C>ACA349867146COL5A2c.2960G>T (p.Gly987Val)
c.1799G>T (p.Gly600Val)
c.2822G>T (p.Gly941Val)
 gnomAD v4
2g.189050648C=CA1315425047COL5A2c.2960G= (p.Gly987=)
c.1799G= (p.Gly600=)
c.2822G= (p.Gly941=)
2g.189050648C>GCA349867147COL5A2c.2960G>C (p.Gly987Ala)
c.1799G>C (p.Gly600Ala)
c.2822G>C (p.Gly941Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189050648C>TCA349867144COL5A2c.2960G>A (p.Gly987Glu)
c.1799G>A (p.Gly600Glu)
c.2822G>A (p.Gly941Glu)
 gnomAD v4
2g.189050649C>ACA349867150COL5A2c.2959G>T (p.Gly987Ter)
c.1798G>T (p.Gly600Ter)
c.2821G>T (p.Gly941Ter)
 gnomAD v4
2g.189050649C>GCA349867151COL5A2c.2959G>C (p.Gly987Arg)
c.1798G>C (p.Gly600Arg)
c.2821G>C (p.Gly941Arg)
 gnomAD v4
2g.189050649C>TCA349867152COL5A2c.2959G>A (p.Gly987Arg)
c.1798G>A (p.Gly600Arg)
c.2821G>A (p.Gly941Arg)
 gnomAD v4
2g.189050650A>CCA430322209COL5A2c.2958T>G (p.Ala986=)
c.1797T>G (p.Ala599=)
c.2820T>G (p.Ala940=)
2g.189050650A>GCA430322207COL5A2c.2958T>C (p.Ala986=)
c.1797T>C (p.Ala599=)
c.2820T>C (p.Ala940=)
 gnomAD v4
2g.189050650A>TCA430322206COL5A2c.2958T>A (p.Ala986=)
c.1797T>A (p.Ala599=)
c.2820T>A (p.Ala940=)
 gnomAD v4
2g.189050651G>ACA349867154COL5A2c.2957C>T (p.Ala986Val)
c.1796C>T (p.Ala599Val)
c.2819C>T (p.Ala940Val)
 gnomAD v4
2g.189050651G>CCA349867156COL5A2c.2957C>G (p.Ala986Gly)
c.1796C>G (p.Ala599Gly)
c.2819C>G (p.Ala940Gly)
2g.189050651G>TCA349867157COL5A2c.2957C>A (p.Ala986Asp)
c.1796C>A (p.Ala599Asp)
c.2819C>A (p.Ala940Asp)
 gnomAD v4
2g.189050652C>ACA349867161COL5A2c.2956G>T (p.Ala986Ser)
c.1795G>T (p.Ala599Ser)
c.2818G>T (p.Ala940Ser)
 gnomAD v4
2g.189050652C>GCA349867158COL5A2c.2956G>C (p.Ala986Pro)
c.1795G>C (p.Ala599Pro)
c.2818G>C (p.Ala940Pro)
2g.189050652C>TCA349867159COL5A2c.2956G>A (p.Ala986Thr)
c.1795G>A (p.Ala599Thr)
c.2818G>A (p.Ala940Thr)
 gnomAD v4
2g.189050653T>ACA430322220COL5A2c.2955A>T (p.Pro985=)
c.1794A>T (p.Pro598=)
c.2817A>T (p.Pro939=)
 gnomAD v4
2g.189050653T>CCA430322218COL5A2c.2955A>G (p.Pro985=)
c.1794A>G (p.Pro598=)
c.2817A>G (p.Pro939=)
 ClinVar dbSNP gnomAD v4
2g.189050653T>GCA430322216COL5A2c.2955A>C (p.Pro985=)
c.1794A>C (p.Pro598=)
c.2817A>C (p.Pro939=)
2g.189050653T=CA1315425048COL5A2c.2955A= (p.Pro985=)
c.1794A= (p.Pro598=)
c.2817A= (p.Pro939=)
2g.189050654G>ACA349867162COL5A2c.2954C>T (p.Pro985Leu)
c.1793C>T (p.Pro598Leu)
c.2816C>T (p.Pro939Leu)
 gnomAD v4
2g.189050654G>CCA349867165COL5A2c.2954C>G (p.Pro985Arg)
c.1793C>G (p.Pro598Arg)
c.2816C>G (p.Pro939Arg)

Number of alleles fetched