Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188991678G>ACA007568COL3A1c.907G>A (p.Gly303Arg)
c.5G>A
 ClinVar dbSNP
2g.188991678G>CCA349849985COL3A1c.907G>C (p.Gly303Arg)
c.5G>C
2g.188991678G=CA1315396797COL3A1c.907G= (p.Gly303=)
c.5G=
2g.188991678G>TCA349849984COL3A1c.907G>T (p.Gly303Trp)
c.5G>T
2g.188991681dupCA2739292302COL3A1c.910dup (p.Ala304GlyfsTer4)
c.8dup
2g.188991679G>ACA349849986COL3A1c.908G>A (p.Gly303Glu)
c.6G>A
 COSMIC COSMIC
2g.188991679G>CCA349849987COL3A1c.908G>C (p.Gly303Ala)
c.6G>C
2g.188991679G>TCA349849988COL3A1c.908G>T (p.Gly303Val)
c.6G>T
2g.188991680G>ACA077067COL3A1c.909G>A (p.Gly303=)
c.7G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188991680G>CCA430309195COL3A1c.909G>C (p.Gly303=)
c.7G>C
2g.188991680G=CA1315396801COL3A1c.909G= (p.Gly303=)
c.7G=
2g.188991680G>TCA430309196COL3A1c.909G>T (p.Gly303=)
c.7G>T
2g.188991681G>ACA349849989COL3A1c.910G>A (p.Ala304Thr)
c.8G>A
 gnomAD v4
2g.188991681G>CCA077071COL3A1c.910G>C (p.Ala304Pro)
c.8G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188991681G=CA1315396804COL3A1c.910G= (p.Ala304=)
c.8G=
2g.188991681G>TCA349849990COL3A1c.910G>T (p.Ala304Ser)
c.8G>T
 ClinVar
2g.188991681_188991698delCA645527369COL3A1c.910_927del (p.Ala304_Gly309del)
c.8_25del
 COSMIC
2g.188991682C>ACA007579COL3A1c.911C>A (p.Ala304Asp)
c.9C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188991682C=CA1315396807COL3A1c.911C= (p.Ala304=)
c.9C=
2g.188991682C>GCA349849991COL3A1c.911C>G (p.Ala304Gly)
c.9C>G
2g.188991682C>TCA349849992COL3A1c.911C>T (p.Ala304Val)
c.9C>T
 ClinVar dbSNP
2g.188991683T>ACA430309199COL3A1c.912T>A (p.Ala304=)
c.10T>A
2g.188991683T>CCA430309197COL3A1c.912T>C (p.Ala304=)
c.10T>C
 dbSNP gnomAD v2 gnomAD v4
2g.188991683T>GCA430309198COL3A1c.912T>G (p.Ala304=)
c.10T>G
2g.188991683T=CA1315396809COL3A1c.912T= (p.Ala304=)
c.10T=
2g.188991684C>ACA349849993COL3A1c.913C>A (p.Pro305Thr)
c.11C>A
2g.188991684C=CA1315396811COL3A1c.913C= (p.Pro305=)
c.11C=
2g.188991684C>GCA349849994COL3A1c.913C>G (p.Pro305Ala)
c.11C>G
2g.188991684C>TCA349849995COL3A1c.913C>T (p.Pro305Ser)
c.11C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188991685C>ACA349849997COL3A1c.914C>A (p.Pro305His)
c.12C>A
2g.188991685C>GCA349849998COL3A1c.914C>G (p.Pro305Arg)
c.12C>G
2g.188991685C>TCA349849996COL3A1c.914C>T (p.Pro305Leu)
c.12C>T
2g.188991686T>ACA430309200COL3A1c.915T>A (p.Pro305=)
c.13T>A
2g.188991686T>CCA430309201COL3A1c.915T>C (p.Pro305=)
c.13T>C
 gnomAD v4
2g.188991686T>GCA430309202COL3A1c.915T>G (p.Pro305=)
c.13T>G
 ClinVar dbSNP gnomAD v4
2g.188991687G>ACA349849999COL3A1c.916G>A (p.Gly306Ser)
c.14G>A
2g.188991687G>CCA349850000COL3A1c.916G>C (p.Gly306Arg)
c.14G>C
2g.188991687G>TCA349850001COL3A1c.916G>T (p.Gly306Cys)
c.14G>T
2g.188991688G>ACA349850002COL3A1c.917G>A (p.Gly306Asp)
c.15G>A
2g.188991688G>CCA349850003COL3A1c.917G>C (p.Gly306Ala)
c.15G>C
2g.188991688G>TCA349850004COL3A1c.917G>T (p.Gly306Val)
c.15G>T
2g.188991689T>ACA430309204COL3A1c.918T>A (p.Gly306=)
c.16T>A
2g.188991689T>CCA430309203COL3A1c.918T>C (p.Gly306=)
c.16T>C
2g.188991689T>GCA430309205COL3A1c.918T>G (p.Gly306=)
c.16T>G
2g.188991690G>ACA349850005COL3A1c.919G>A (p.Glu307Lys)
c.17G>A
 dbSNP gnomAD v2 gnomAD v4
2g.188991690G>CCA349850006COL3A1c.919G>C (p.Glu307Gln)
c.17G>C
2g.188991690G=CA1315396813COL3A1c.919G= (p.Glu307=)
c.17G=
2g.188991690G>TCA349850007COL3A1c.919G>T (p.Glu307Ter)
c.17G>T
 gnomAD v4
2g.188991691A>CCA349850008COL3A1c.920A>C (p.Glu307Ala)
c.18A>C

Number of alleles fetched