Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94408214G>A | CA4346766 | COL1A2 | c.671G>A (p.Arg224His) c.665G>A (p.Arg222His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.94408214G>C | CA368220282 | COL1A2 | c.671G>C (p.Arg224Pro) c.665G>C (p.Arg222Pro) | gnomAD v4 |
7 | g.94408214G= | CA1726793773 | COL1A2 | c.671G= (p.Arg224=) c.665G= (p.Arg222=) | |
7 | g.94408214G>T | CA368220283 | COL1A2 | c.671G>T (p.Arg224Leu) c.665G>T (p.Arg222Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94408215T>A | CA456488135 | COL1A2 | c.672T>A (p.Arg224=) c.666T>A (p.Arg222=) | |
7 | g.94408215T>C | CA456488136 | COL1A2 | c.672T>C (p.Arg224=) c.666T>C (p.Arg222=) | |
7 | g.94408215T>G | CA456488137 | COL1A2 | c.672T>G (p.Arg224=) c.666T>G (p.Arg222=) | |
7 | g.94408216G>A | CA368220286 | COL1A2 | c.673G>A (p.Val225Ile) c.667G>A (p.Val223Ile) | |
7 | g.94408216G>C | CA368220285 | COL1A2 | c.673G>C (p.Val225Leu) c.667G>C (p.Val223Leu) | |
7 | g.94408216G>T | CA368220284 | COL1A2 | c.673G>T (p.Val225Phe) c.667G>T (p.Val223Phe) | |
7 | g.94408217T>A | CA368220287 | COL1A2 | c.674T>A (p.Val225Asp) c.668T>A (p.Val223Asp) | |
7 | g.94408217T>C | CA368220288 | COL1A2 | c.674T>C (p.Val225Ala) c.668T>C (p.Val223Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94408217T>G | CA368220289 | COL1A2 | c.674T>G (p.Val225Gly) c.668T>G (p.Val223Gly) | |
7 | g.94408217T= | CA1726793774 | COL1A2 | c.674T= (p.Val225=) c.668T= (p.Val223=) | |
7 | g.94408218T>A | CA456488138 | COL1A2 | c.675T>A (p.Val225=) c.669T>A (p.Val223=) | |
7 | g.94408218T>C | CA456488139 | COL1A2 | c.675T>C (p.Val225=) c.669T>C (p.Val223=) | |
7 | g.94408218T>G | CA456488140 | COL1A2 | c.675T>G (p.Val225=) c.669T>G (p.Val223=) | |
7 | g.94408219G>A | CA368220290 | COL1A2 | c.676G>A (p.Gly226Ser) c.670G>A (p.Gly224Ser) | |
7 | g.94408219G>C | CA368220291 | COL1A2 | c.676G>C (p.Gly226Arg) c.670G>C (p.Gly224Arg) | |
7 | g.94408219G>T | CA368220292 | COL1A2 | c.676G>T (p.Gly226Cys) c.670G>T (p.Gly224Cys) | gnomAD v4 |
7 | g.94408220G>A | CA260382 | COL1A2 | c.677G>A (p.Gly226Asp) c.671G>A (p.Gly224Asp) | ClinVar dbSNP |
7 | g.94408220G>C | CA368220294 | COL1A2 | c.677G>C (p.Gly226Ala) c.671G>C (p.Gly224Ala) | |
7 | g.94408220G= | CA1726793775 | COL1A2 | c.677G= (p.Gly226=) c.671G= (p.Gly224=) | |
7 | g.94408220G>T | CA368220293 | COL1A2 | c.677G>T (p.Gly226Val) c.671G>T (p.Gly224Val) | |
7 | g.94408221T>A | CA456488141 | COL1A2 | c.678T>A (p.Gly226=) c.672T>A (p.Gly224=) | dbSNP |
7 | g.94408221T>C | CA456488142 | COL1A2 | c.678T>C (p.Gly226=) c.672T>C (p.Gly224=) | |
7 | g.94408221T>G | CA456488143 | COL1A2 | c.678T>G (p.Gly226=) c.672T>G (p.Gly224=) | dbSNP |
7 | g.94408221T= | CA1726793776 | COL1A2 | c.678T= (p.Gly226=) c.672T= (p.Gly224=) | |
7 | g.94408222G>A | CA4346767 | COL1A2 | c.679G>A (p.Ala227Thr) c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94408222G>C | CA368220295 | COL1A2 | c.679G>C (p.Ala227Pro) c.673G>C (p.Ala225Pro) | |
7 | g.94408222G= | CA1726793777 | COL1A2 | c.679G= (p.Ala227=) c.673G= (p.Ala225=) | |
7 | g.94408222G>T | CA368220296 | COL1A2 | c.679G>T (p.Ala227Ser) c.673G>T (p.Ala225Ser) | ClinVar dbSNP |
7 | g.94408223C>A | CA368220297 | COL1A2 | c.680C>A (p.Ala227Asp) c.674C>A (p.Ala225Asp) | |
7 | g.94408223C>G | CA368220298 | COL1A2 | c.680C>G (p.Ala227Gly) c.674C>G (p.Ala225Gly) | |
7 | g.94408223C>T | CA368220299 | COL1A2 | c.680C>T (p.Ala227Val) c.674C>T (p.Ala225Val) | |
7 | g.94408226dup | CA1726793778 | COL1A2 | c.683dup (p.Gly229TrpfsTer9) c.677dup (p.Gly227TrpfsTer9) | dbSNP |
7 | g.94408224C>A | CA456488144 | COL1A2 | c.681C>A (p.Ala227=) c.675C>A (p.Ala225=) | |
7 | g.94408224C= | CA1726748334 | COL1A2 | c.681C= (p.Ala227=) c.675C= (p.Ala225=) | |
7 | g.94408224C>G | CA456488146 | COL1A2 | c.681C>G (p.Ala227=) c.675C>G (p.Ala225=) | ClinVar dbSNP gnomAD v4 |
7 | g.94408224C>T | CA456488145 | COL1A2 | c.681C>T (p.Ala227=) c.675C>T (p.Ala225=) | dbSNP gnomAD v4 |
7 | g.94408225C>A | CA368220300 | COL1A2 | c.682C>A (p.Pro228Thr) c.676C>A (p.Pro226Thr) | |
7 | g.94408225C= | CA1726748342 | COL1A2 | c.682C= (p.Pro228=) c.676C= (p.Pro226=) | |
7 | g.94408225C>G | CA368220301 | COL1A2 | c.682C>G (p.Pro228Ala) c.676C>G (p.Pro226Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94408225C>T | CA368220302 | COL1A2 | c.682C>T (p.Pro228Ser) c.676C>T (p.Pro226Ser) | ClinVar dbSNP |
7 | g.94408226C>A | CA368220303 | COL1A2 | c.683C>A (p.Pro228His) c.677C>A (p.Pro226His) | |
7 | g.94408226C>G | CA368220304 | COL1A2 | c.683C>G (p.Pro228Arg) c.677C>G (p.Pro226Arg) | gnomAD v4 |
7 | g.94408226C>T | CA368220305 | COL1A2 | c.683C>T (p.Pro228Leu) c.677C>T (p.Pro226Leu) | gnomAD v4 |
7 | g.94408227T>A | CA456488147 | COL1A2 | c.684T>A (p.Pro228=) c.678T>A (p.Pro226=) | |
7 | g.94408227T>C | CA456488148 | COL1A2 | c.684T>C (p.Pro228=) c.678T>C (p.Pro226=) | dbSNP gnomAD v4 |
7 | g.94408227T>G | CA456488149 | COL1A2 | c.684T>G (p.Pro228=) c.678T>G (p.Pro226=) |