Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188999894_189002903delCA2740096382COL3A1c.2183_2347-52del
c.2282_2446-52del
 ClinVar
2g.188999894_189002899delCA2740096383COL3A1c.2183_2347-56del
c.2282_2446-56del
 ClinVar
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.189002316G>ACA005368COL3A1c.2311G>A (p.Gly771Ser)
c.2410G>A (p.Gly804Ser)
 ClinVar dbSNP
2g.189002316G>CCA349842613COL3A1c.2311G>C (p.Gly771Arg)
c.2410G>C (p.Gly804Arg)
2g.189002316G=CA1315402254COL3A1c.2311G= (p.Gly771=)
c.2410G= (p.Gly804=)
2g.189002316G>TCA349842614COL3A1c.2311G>T (p.Gly771Cys)
c.2410G>T (p.Gly804Cys)
 COSMIC
2g.189002317G>ACA349842615COL3A1c.2312G>A (p.Gly771Asp)
c.2411G>A (p.Gly804Asp)
2g.189002317G>CCA349842616COL3A1c.2312G>C (p.Gly771Ala)
c.2411G>C (p.Gly804Ala)
2g.189002317G>TCA16602223COL3A1c.2312G>T (p.Gly771Val)
c.2411G>T (p.Gly804Val)
 COSMIC
2g.189002318C>ACA430311234COL3A1c.2313C>A (p.Gly771=)
c.2412C>A (p.Gly804=)
2g.189002318C=CA1315402255COL3A1c.2313C= (p.Gly771=)
c.2412C= (p.Gly804=)
2g.189002318C>GCA430311236COL3A1c.2313C>G (p.Gly771=)
c.2412C>G (p.Gly804=)
2g.189002318C>TCA075316COL3A1c.2313C>T (p.Gly771=)
c.2412C>T (p.Gly804=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189002319C>ACA349842617COL3A1c.2314C>A (p.Pro772Thr)
c.2413C>A (p.Pro805Thr)
2g.189002319C>GCA349842618COL3A1c.2314C>G (p.Pro772Ala)
c.2413C>G (p.Pro805Ala)
2g.189002319C>TCA349842619COL3A1c.2314C>T (p.Pro772Ser)
c.2413C>T (p.Pro805Ser)
 gnomAD v4
2g.189002320C>ACA349842620COL3A1c.2315C>A (p.Pro772His)
c.2414C>A (p.Pro805His)
 gnomAD v4
2g.189002320C=CA1315402256COL3A1c.2315C= (p.Pro772=)
c.2414C= (p.Pro805=)
2g.189002320C>GCA349842621COL3A1c.2315C>G (p.Pro772Arg)
c.2414C>G (p.Pro805Arg)
 ClinVar dbSNP
2g.189002320C>TCA349842622COL3A1c.2315C>T (p.Pro772Leu)
c.2414C>T (p.Pro805Leu)
 gnomAD v4
2g.189002321T>ACA430311239COL3A1c.2316T>A (p.Pro772=)
c.2415T>A (p.Pro805=)
2g.189002321T>CCA430311241COL3A1c.2316T>C (p.Pro772=)
c.2415T>C (p.Pro805=)
 dbSNP gnomAD v2 gnomAD v4
2g.189002321T>GCA430311243COL3A1c.2316T>G (p.Pro772=)
c.2415T>G (p.Pro805=)
2g.189002321T=CA1315402257COL3A1c.2316T= (p.Pro772=)
c.2415T= (p.Pro805=)
2g.189002322C>ACA349842623COL3A1c.2317C>A (p.Pro773Thr)
c.2416C>A (p.Pro806Thr)
2g.189002322C=CA1315402258COL3A1c.2317C= (p.Pro773=)
c.2416C= (p.Pro806=)
2g.189002322C>GCA62556005COL3A1c.2317C>G (p.Pro773Ala)
c.2416C>G (p.Pro806Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189002322C>TCA62556012COL3A1c.2317C>T (p.Pro773Ser)
c.2416C>T (p.Pro806Ser)
 ClinVar dbSNP gnomAD v4
2g.189002323C>ACA349842624COL3A1c.2318C>A (p.Pro773Gln)
c.2417C>A (p.Pro806Gln)
2g.189002323C=CA1315402259COL3A1c.2318C= (p.Pro773=)
c.2417C= (p.Pro806=)
2g.189002323C>GCA349842625COL3A1c.2318C>G (p.Pro773Arg)
c.2417C>G (p.Pro806Arg)
 COSMIC COSMIC
2g.189002323C>TCA349842626COL3A1c.2318C>T (p.Pro773Leu)
c.2417C>T (p.Pro806Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002324A>CCA430311246COL3A1c.2319A>C (p.Pro773=)
c.2418A>C (p.Pro806=)
2g.189002324A>GCA430311249COL3A1c.2319A>G (p.Pro773=)
c.2418A>G (p.Pro806=)
 ClinVar dbSNP
2g.189002324A>TCA430311247COL3A1c.2319A>T (p.Pro773=)
c.2418A>T (p.Pro806=)
2g.189002325G>ACA349842627COL3A1c.2320G>A (p.Gly774Arg)
c.2419G>A (p.Gly807Arg)
 ClinVar
2g.189002325G>CCA349842628COL3A1c.2320G>C (p.Gly774Arg)
c.2419G>C (p.Gly807Arg)
2g.189002325G>TCA349842629COL3A1c.2320G>T (p.Gly774Ter)
c.2419G>T (p.Gly807Ter)
2g.189002326G>ACA349842630COL3A1c.2321G>A (p.Gly774Glu)
c.2420G>A (p.Gly807Glu)
 COSMIC
2g.189002326G>CCA349842631COL3A1c.2321G>C (p.Gly774Ala)
c.2420G>C (p.Gly807Ala)
2g.189002326G>TCA349842632COL3A1c.2321G>T (p.Gly774Val)
c.2420G>T (p.Gly807Val)
2g.189002327A>CCA430311250COL3A1c.2322A>C (p.Gly774=)
c.2421A>C (p.Gly807=)
2g.189002327A>GCA430311252COL3A1c.2322A>G (p.Gly774=)
c.2421A>G (p.Gly807=)
2g.189002327A>TCA430311254COL3A1c.2322A>T (p.Gly774=)
c.2421A>T (p.Gly807=)
2g.189002328C>ACA349842633COL3A1c.2323C>A (p.Pro775Thr)
c.2422C>A (p.Pro808Thr)
 dbSNP
2g.189002328C=CA1315402260COL3A1c.2323C= (p.Pro775=)
c.2422C= (p.Pro808=)
2g.189002328C>GCA349842634COL3A1c.2323C>G (p.Pro775Ala)
c.2422C>G (p.Pro808Ala)

Number of alleles fetched