Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189003975T>A | CA2662310060 | COL3A1 | c.2563-7T>A (n.2563-7T>A) c.2662-7T>A (n.2662-7T>A) c.2527+939T>A (n.2527+939T>A) | gnomAD v4 |
2 | g.189003976T>C | CA2573134198 | COL3A1 | c.2563-6T>C (n.2563-6T>C) c.2662-6T>C (n.2662-6T>C) c.2527+940T>C (n.2527+940T>C) | ClinVar dbSNP |
2 | g.189003977T>G | CA2577185817 | COL3A1 | c.2563-5T>G (n.2563-5T>G) c.2662-5T>G (n.2662-5T>G) c.2527+941T>G (n.2527+941T>G) | |
2 | g.189003978G>A | CA2662310061 | COL3A1 | c.2563-4G>A (n.2563-4G>A) c.2662-4G>A (n.2662-4G>A) c.2527+942G>A (n.2527+942G>A) | ClinVar gnomAD v4 |
2 | g.189003978G>T | CA2662310062 | COL3A1 | c.2563-4G>T (n.2563-4G>T) c.2662-4G>T (n.2662-4G>T) c.2527+942G>T (n.2527+942G>T) | gnomAD v4 |
2 | g.189003979T>C | CA2662310063 | COL3A1 | c.2563-3T>C (n.2563-3T>C) c.2662-3T>C (n.2662-3T>C) c.2527+943T>C (n.2527+943T>C) | gnomAD v4 |
2 | g.189003980A>C | CA349843650 | COL3A1 | c.2563-2A>C (n.2563-2A>C) c.2662-2A>C (n.2662-2A>C) c.2527+944A>C (n.2527+944A>C) | |
2 | g.189003980A>G | CA349843651 | COL3A1 | c.2563-2A>G (n.2563-2A>G) c.2662-2A>G (n.2662-2A>G) c.2527+944A>G (n.2527+944A>G) | |
2 | g.189003980A>T | CA349843652 | COL3A1 | c.2563-2A>T (n.2563-2A>T) c.2662-2A>T (n.2662-2A>T) c.2527+944A>T (n.2527+944A>T) | |
2 | g.189003981G>A | CA349843654 | COL3A1 | c.2563-1G>A (n.2563-1G>A) c.2662-1G>A (n.2662-1G>A) c.2527+945G>A (n.2527+945G>A) | |
2 | g.189003981G>C | CA349843656 | COL3A1 | c.2563-1G>C (n.2563-1G>C) c.2662-1G>C (n.2662-1G>C) c.2527+945G>C (n.2527+945G>C) | |
2 | g.189003981G>T | CA349843658 | COL3A1 | c.2563-1G>T (n.2563-1G>T) c.2662-1G>T (n.2662-1G>T) c.2527+945G>T (n.2527+945G>T) | |
2 | g.189003982G>A | CA349843660 | COL3A1 | c.2563G>A (p.Gly855Ser) c.2662G>A (p.Gly888Ser) c.2527+946G>A (n.2527+946G>A) | |
2 | g.189003982G>C | CA349843661 | COL3A1 | c.2563G>C (p.Gly855Arg) c.2662G>C (p.Gly888Arg) c.2527+946G>C (n.2527+946G>C) | |
2 | g.189003982G>T | CA349843663 | COL3A1 | c.2563G>T (p.Gly855Cys) c.2662G>T (p.Gly888Cys) c.2527+946G>T (n.2527+946G>T) | |
2 | g.189003983G>A | CA349843664 | COL3A1 | c.2564G>A (p.Gly855Asp) c.2663G>A (p.Gly888Asp) c.2527+947G>A (n.2527+947G>A) | |
2 | g.189003983G>C | CA349843667 | COL3A1 | c.2564G>C (p.Gly855Ala) c.2663G>C (p.Gly888Ala) c.2527+947G>C (n.2527+947G>C) | |
2 | g.189003983G>T | CA349843668 | COL3A1 | c.2564G>T (p.Gly855Val) c.2663G>T (p.Gly888Val) c.2527+947G>T (n.2527+947G>T) | |
2 | g.189003984T>A | CA430311840 | COL3A1 | c.2565T>A (p.Gly855=) c.2664T>A (p.Gly888=) c.2527+948T>A (n.2527+948T>A) | |
2 | g.189003984T>C | CA430311839 | COL3A1 | c.2565T>C (p.Gly855=) c.2664T>C (p.Gly888=) c.2527+948T>C (n.2527+948T>C) | |
2 | g.189003984T>G | CA430311838 | COL3A1 | c.2565T>G (p.Gly855=) c.2664T>G (p.Gly888=) c.2527+948T>G (n.2527+948T>G) | |
2 | g.189003985A= | CA1315403010 | COL3A1 | c.2566A= (p.Asn856=) c.2665A= (p.Asn889=) c.2527+949A= (n.2527+949A=) | |
2 | g.189003985A>C | CA349843675 | COL3A1 | c.2566A>C (p.Asn856His) c.2665A>C (p.Asn889His) c.2527+949A>C (n.2527+949A>C) | |
2 | g.189003985A>G | CA349843671 | COL3A1 | c.2566A>G (p.Asn856Asp) c.2665A>G (p.Asn889Asp) c.2527+949A>G (n.2527+949A>G) | |
2 | g.189003985A>T | CA005577 | COL3A1 | c.2566A>T (p.Asn856Tyr) c.2665A>T (p.Asn889Tyr) c.2527+949A>T (n.2527+949A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003986A= | CA1315403011 | COL3A1 | c.2567A= (p.Asn856=) c.2666A= (p.Asn889=) c.2527+950A= (n.2527+950A=) | |
2 | g.189003986A>C | CA349843677 | COL3A1 | c.2567A>C (p.Asn856Thr) c.2666A>C (p.Asn889Thr) c.2527+950A>C (n.2527+950A>C) | dbSNP |
2 | g.189003986A>G | CA349843679 | COL3A1 | c.2567A>G (p.Asn856Ser) c.2666A>G (p.Asn889Ser) c.2527+950A>G (n.2527+950A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003986A>T | CA349843681 | COL3A1 | c.2567A>T (p.Asn856Ile) c.2666A>T (p.Asn889Ile) c.2527+950A>T (n.2527+950A>T) | |
2 | g.189003987C>A | CA075533 | COL3A1 | c.2568C>A (p.Asn856Lys) c.2667C>A (p.Asn889Lys) c.2527+951C>A (n.2527+951C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189003987C= | CA1315403012 | COL3A1 | c.2568C= (p.Asn856=) c.2667C= (p.Asn889=) c.2527+951C= (n.2527+951C=) | |
2 | g.189003987C>G | CA349843684 | COL3A1 | c.2568C>G (p.Asn856Lys) c.2667C>G (p.Asn889Lys) c.2527+951C>G (n.2527+951C>G) | |
2 | g.189003987C>T | CA430311841 | COL3A1 | c.2568C>T (p.Asn856=) c.2667C>T (p.Asn889=) c.2527+951C>T (n.2527+951C>T) | |
2 | g.189003988C>A | CA349843690 | COL3A1 | c.2569C>A (p.Pro857Thr) c.2668C>A (p.Pro890Thr) c.2527+952C>A (n.2527+952C>A) | gnomAD v4 |
2 | g.189003988C= | CA1315403013 | COL3A1 | c.2569C= (p.Pro857=) c.2668C= (p.Pro890=) c.2527+952C= (n.2527+952C=) | |
2 | g.189003988C>G | CA349843687 | COL3A1 | c.2569C>G (p.Pro857Ala) c.2668C>G (p.Pro890Ala) c.2527+952C>G (n.2527+952C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.189003988C>T | CA005585 | COL3A1 | c.2569C>T (p.Pro857Ser) c.2668C>T (p.Pro890Ser) c.2527+952C>T (n.2527+952C>T) | ClinVar dbSNP |
2 | g.189003989C>A | CA349843692 | COL3A1 | c.2570C>A (p.Pro857Gln) c.2669C>A (p.Pro890Gln) c.2527+953C>A (n.2527+953C>A) | gnomAD v3 gnomAD v4 |
2 | g.189003989C= | CA1315403014 | COL3A1 | c.2570C= (p.Pro857=) c.2669C= (p.Pro890=) c.2527+953C= (n.2527+953C=) | |
2 | g.189003989C>G | CA075537 | COL3A1 | c.2570C>G (p.Pro857Arg) c.2669C>G (p.Pro890Arg) c.2527+953C>G (n.2527+953C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189003989C>T | CA62557275 | COL3A1 | c.2570C>T (p.Pro857Leu) c.2669C>T (p.Pro890Leu) c.2527+953C>T (n.2527+953C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003990A>C | CA430311844 | COL3A1 | c.2571A>C (p.Pro857=) c.2670A>C (p.Pro890=) c.2527+954A>C (n.2527+954A>C) | |
2 | g.189003990A>G | CA430311846 | COL3A1 | c.2571A>G (p.Pro857=) c.2670A>G (p.Pro890=) c.2527+954A>G (n.2527+954A>G) | |
2 | g.189003990A>T | CA430311845 | COL3A1 | c.2571A>T (p.Pro857=) c.2670A>T (p.Pro890=) c.2527+954A>T (n.2527+954A>T) | |
2 | g.189003991G>A | CA349843697 | COL3A1 | c.2572G>A (p.Gly858Arg) c.2671G>A (p.Gly891Arg) c.2527+955G>A (n.2527+955G>A) | ClinVar |
2 | g.189003991G>C | CA349843699 | COL3A1 | c.2572G>C (p.Gly858Arg) c.2671G>C (p.Gly891Arg) c.2527+955G>C (n.2527+955G>C) | |
2 | g.189003991G>T | CA349843701 | COL3A1 | c.2572G>T (p.Gly858Ter) c.2671G>T (p.Gly891Ter) c.2527+955G>T (n.2527+955G>T) |