Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189004293G>ACA005755COL3A1c.2761G>A (p.Gly921Arg)
c.2860G>A (p.Gly954Arg)
c.2527+1257G>A (n.2527+1257G>A)
 ClinVar dbSNP
2g.189004293G>CCA349844529COL3A1c.2761G>C (p.Gly921Arg)
c.2860G>C (p.Gly954Arg)
c.2527+1257G>C (n.2527+1257G>C)
2g.189004293G=CA1315403169COL3A1c.2761G= (p.Gly921=)
c.2860G= (p.Gly954=)
c.2527+1257G= (n.2527+1257G=)
2g.189004293G>TCA349844530COL3A1c.2761G>T (p.Gly921Ter)
c.2860G>T (p.Gly954Ter)
c.2527+1257G>T (n.2527+1257G>T)
2g.189004294G>ACA005762COL3A1c.2762G>A (p.Gly921Glu)
c.2861G>A (p.Gly954Glu)
c.2527+1258G>A (n.2527+1258G>A)
 ClinVar dbSNP
2g.189004294G>CCA349844531COL3A1c.2762G>C (p.Gly921Ala)
c.2861G>C (p.Gly954Ala)
c.2527+1258G>C (n.2527+1258G>C)
2g.189004294G=CA1315403170COL3A1c.2762G= (p.Gly921=)
c.2861G= (p.Gly954=)
c.2527+1258G= (n.2527+1258G=)
2g.189004294G>TCA349844532COL3A1c.2762G>T (p.Gly921Val)
c.2861G>T (p.Gly954Val)
c.2527+1258G>T (n.2527+1258G>T)
 gnomAD v4
2g.189004295A=CA1315403171COL3A1c.2763A= (p.Gly921=)
c.2862A= (p.Gly954=)
c.2527+1259A= (n.2527+1259A=)
2g.189004295A>CCA430312216COL3A1c.2763A>C (p.Gly921=)
c.2862A>C (p.Gly954=)
c.2527+1259A>C (n.2527+1259A>C)
2g.189004295A>GCA430312217COL3A1c.2763A>G (p.Gly921=)
c.2862A>G (p.Gly954=)
c.2527+1259A>G (n.2527+1259A>G)
2g.189004295A>TCA430312218COL3A1c.2763A>T (p.Gly921=)
c.2862A>T (p.Gly954=)
c.2527+1259A>T (n.2527+1259A>T)
 ClinVar dbSNP gnomAD v2
2g.189004296G>ACA349844533COL3A1c.2764G>A (p.Ala922Thr)
c.2863G>A (p.Ala955Thr)
c.2527+1260G>A (n.2527+1260G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004296G>CCA349844535COL3A1c.2764G>C (p.Ala922Pro)
c.2863G>C (p.Ala955Pro)
c.2527+1260G>C (n.2527+1260G>C)
2g.189004296G=CA1315403172COL3A1c.2764G= (p.Ala922=)
c.2863G= (p.Ala955=)
c.2527+1260G= (n.2527+1260G=)
2g.189004296G>TCA349844534COL3A1c.2764G>T (p.Ala922Ser)
c.2863G>T (p.Ala955Ser)
c.2527+1260G>T (n.2527+1260G>T)
2g.189004297C>ACA349844536COL3A1c.2765C>A (p.Ala922Glu)
c.2864C>A (p.Ala955Glu)
c.2527+1261C>A (n.2527+1261C>A)
2g.189004297C>GCA349844537COL3A1c.2765C>G (p.Ala922Gly)
c.2864C>G (p.Ala955Gly)
c.2527+1261C>G (n.2527+1261C>G)
2g.189004297C>TCA349844538COL3A1c.2765C>T (p.Ala922Val)
c.2864C>T (p.Ala955Val)
c.2527+1261C>T (n.2527+1261C>T)
 gnomAD v3 gnomAD v4
2g.189004298A=CA1315403173COL3A1c.2766A= (p.Ala922=)
c.2865A= (p.Ala955=)
c.2527+1262A= (n.2527+1262A=)
2g.189004298A>CCA430312219COL3A1c.2766A>C (p.Ala922=)
c.2865A>C (p.Ala955=)
c.2527+1262A>C (n.2527+1262A>C)
2g.189004298A>GCA430312220COL3A1c.2766A>G (p.Ala922=)
c.2865A>G (p.Ala955=)
c.2527+1262A>G (n.2527+1262A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189004298A>TCA430312221COL3A1c.2766A>T (p.Ala922=)
c.2865A>T (p.Ala955=)
c.2527+1262A>T (n.2527+1262A>T)
2g.189004299C>ACA430312222COL3A1c.2767C>A (p.Arg923=)
c.2866C>A (p.Arg956=)
c.2527+1263C>A (n.2527+1263C>A)
2g.189004299C=CA1315403174COL3A1c.2767C= (p.Arg923=)
c.2866C= (p.Arg956=)
c.2527+1263C= (n.2527+1263C=)
2g.189004299C>GCA349844539COL3A1c.2767C>G (p.Arg923Gly)
c.2866C>G (p.Arg956Gly)
c.2527+1263C>G (n.2527+1263C>G)
2g.189004299C>TCA62557533COL3A1c.2767C>T (p.Arg923Trp)
c.2866C>T (p.Arg956Trp)
c.2527+1263C>T (n.2527+1263C>T)
 dbSNP gnomAD v4
2g.189004300G>ACA349844540COL3A1c.2768G>A (p.Arg923Gln)
c.2867G>A (p.Arg956Gln)
c.2527+1264G>A (n.2527+1264G>A)
 ClinVar gnomAD v4 COSMIC
2g.189004300G>CCA349844541COL3A1c.2768G>C (p.Arg923Pro)
c.2867G>C (p.Arg956Pro)
c.2527+1264G>C (n.2527+1264G>C)
 gnomAD v4
2g.189004300G>TCA349844542COL3A1c.2768G>T (p.Arg923Leu)
c.2867G>T (p.Arg956Leu)
c.2527+1264G>T (n.2527+1264G>T)
 ClinVar
2g.189004301G>ACA62557534COL3A1c.2769G>A (p.Arg923=)
c.2868G>A (p.Arg956=)
c.2527+1265G>A (n.2527+1265G>A)
 dbSNP gnomAD v4 COSMIC
2g.189004301G>CCA430312223COL3A1c.2769G>C (p.Arg923=)
c.2868G>C (p.Arg956=)
c.2527+1265G>C (n.2527+1265G>C)
 dbSNP
2g.189004301G=CA1315403175COL3A1c.2769G= (p.Arg923=)
c.2868G= (p.Arg956=)
c.2527+1265G= (n.2527+1265G=)
2g.189004301G>TCA430312224COL3A1c.2769G>T (p.Arg923=)
c.2868G>T (p.Arg956=)
c.2527+1265G>T (n.2527+1265G>T)
2g.189004302G>ACA62557535COL3A1c.2770G>A (p.Gly924Ser)
c.2869G>A (p.Gly957Ser)
c.2527+1266G>A (n.2527+1266G>A)
 ClinVar dbSNP
2g.189004302G>CCA349844543COL3A1c.2770G>C (p.Gly924Arg)
c.2869G>C (p.Gly957Arg)
c.2527+1266G>C (n.2527+1266G>C)
2g.189004302G=CA1315403176COL3A1c.2770G= (p.Gly924=)
c.2869G= (p.Gly957=)
c.2527+1266G= (n.2527+1266G=)
2g.189004302G>TCA005768COL3A1c.2770G>T (p.Gly924Cys)
c.2869G>T (p.Gly957Cys)
c.2527+1266G>T (n.2527+1266G>T)
 ClinVar dbSNP gnomAD v4
2g.189004303G>ACA005775COL3A1c.2771G>A (p.Gly924Asp)
c.2870G>A (p.Gly957Asp)
c.2527+1267G>A (n.2527+1267G>A)
 ClinVar dbSNP
2g.189004303G>CCA349844544COL3A1c.2771G>C (p.Gly924Ala)
c.2870G>C (p.Gly957Ala)
c.2527+1267G>C (n.2527+1267G>C)
2g.189004303G=CA1315403177COL3A1c.2771G= (p.Gly924=)
c.2870G= (p.Gly957=)
c.2527+1267G= (n.2527+1267G=)
2g.189004303G>TCA005782COL3A1c.2771G>T (p.Gly924Val)
c.2870G>T (p.Gly957Val)
c.2527+1267G>T (n.2527+1267G>T)
 ClinVar dbSNP
2g.189004304T>ACA430312225COL3A1c.2772T>A (p.Gly924=)
c.2871T>A (p.Gly957=)
c.2527+1268T>A (n.2527+1268T>A)
2g.189004304T>CCA430312226COL3A1c.2772T>C (p.Gly924=)
c.2871T>C (p.Gly957=)
c.2527+1268T>C (n.2527+1268T>C)
2g.189004304T>GCA430312227COL3A1c.2772T>G (p.Gly924=)
c.2871T>G (p.Gly957=)
c.2527+1268T>G (n.2527+1268T>G)
2g.189004305C>ACA349844546COL3A1c.2773C>A (p.Leu925Ile)
c.2872C>A (p.Leu958Ile)
c.2527+1269C>A (n.2527+1269C>A)
2g.189004305C=CA1315403178COL3A1c.2773C= (p.Leu925=)
c.2872C= (p.Leu958=)
c.2527+1269C= (n.2527+1269C=)

Number of alleles fetched