| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48588285C>A | CA352716928 | COL7A1 | c.2707G>T (p.Glu903Ter) c.2734G>T (p.Glu912Ter) n.2770G>T n.2743G>T | |
| 3 | g.48588285C= | CA1363089463 | COL7A1 | c.2707G= (p.Glu903=) c.2734G= (p.Glu912=) n.2770G= n.2743G= | |
| 3 | g.48588285C>G | CA352716935 | COL7A1 | c.2707G>C (p.Glu903Gln) c.2734G>C (p.Glu912Gln) n.2770G>C n.2743G>C | dbSNP |
| 3 | g.48588285C>T | CA352716954 | COL7A1 | c.2707G>A (p.Glu903Lys) c.2734G>A (p.Glu912Lys) n.2770G>A n.2743G>A | dbSNP gnomAD v4 |
| 3 | g.48588286A>C | CA433545548 | COL7A1 | c.2706T>G (p.Pro902=) c.2733T>G (p.Pro911=) n.2769T>G n.2742T>G | |
| 3 | g.48588286A>G | CA433545549 | COL7A1 | c.2706T>C (p.Pro902=) c.2733T>C (p.Pro911=) n.2769T>C n.2742T>C | gnomAD v4 |
| 3 | g.48588286A>T | CA433545551 | COL7A1 | c.2706T>A (p.Pro902=) c.2733T>A (p.Pro911=) n.2769T>A n.2742T>A | |
| 3 | g.48588287G>A | CA352716964 | COL7A1 | c.2705C>T (p.Pro902Leu) c.2732C>T (p.Pro911Leu) n.2768C>T n.2741C>T | dbSNP gnomAD v4 |
| 3 | g.48588287G>C | CA352716962 | COL7A1 | c.2705C>G (p.Pro902Arg) c.2732C>G (p.Pro911Arg) n.2768C>G n.2741C>G | |
| 3 | g.48588287G= | CA1363089467 | COL7A1 | c.2705C= (p.Pro902=) c.2732C= (p.Pro911=) n.2768C= n.2741C= | |
| 3 | g.48588287G>T | CA352716960 | COL7A1 | c.2705C>A (p.Pro902His) c.2732C>A (p.Pro911His) n.2768C>A n.2741C>A | |
| 3 | g.48588288del | CA2665624393 | COL7A1 | c.2705del (p.Pro902LeufsTer?) c.2732del (p.Pro911LeufsTer?) n.2768del n.2741del | gnomAD v4 |
| 3 | g.48588288G>A | CA73987061 | COL7A1 | c.2704C>T (p.Pro902Ser) c.2731C>T (p.Pro911Ser) n.2767C>T n.2740C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588288G>C | CA352716972 | COL7A1 | c.2704C>G (p.Pro902Ala) c.2731C>G (p.Pro911Ala) n.2767C>G n.2740C>G | |
| 3 | g.48588288G= | CA1363089472 | COL7A1 | c.2704C= (p.Pro902=) c.2731C= (p.Pro911=) n.2767C= n.2740C= | |
| 3 | g.48588288G>T | CA352716975 | COL7A1 | c.2704C>A (p.Pro902Thr) c.2731C>A (p.Pro911Thr) n.2767C>A n.2740C>A | gnomAD v4 |
| 3 | g.48588289T>A | CA352716984 | COL7A1 | c.2703A>T (p.Gln901His) c.2730A>T (p.Gln910His) n.2766A>T n.2739A>T | |
| 3 | g.48588289T>C | CA433545553 | COL7A1 | c.2703A>G (p.Gln901=) c.2730A>G (p.Gln910=) n.2766A>G n.2739A>G | |
| 3 | g.48588289T>G | CA352716986 | COL7A1 | c.2703A>C (p.Gln901His) c.2730A>C (p.Gln910His) n.2766A>C n.2739A>C | |
| 3 | g.48588290T>A | CA352716990 | COL7A1 | c.2702A>T (p.Gln901Leu) c.2729A>T (p.Gln910Leu) n.2765A>T n.2738A>T | |
| 3 | g.48588290T>C | CA352716992 | COL7A1 | c.2702A>G (p.Gln901Arg) c.2729A>G (p.Gln910Arg) n.2765A>G n.2738A>G | dbSNP gnomAD v4 |
| 3 | g.48588290T>G | CA352716993 | COL7A1 | c.2702A>C (p.Gln901Pro) c.2729A>C (p.Gln910Pro) n.2765A>C n.2738A>C | |
| 3 | g.48588290T= | CA1363089476 | COL7A1 | c.2702A= (p.Gln901=) c.2729A= (p.Gln910=) n.2765A= n.2738A= | |
| 3 | g.48588291G>A | CA352716994 | COL7A1 | c.2701C>T (p.Gln901Ter) c.2728C>T (p.Gln910Ter) n.2764C>T n.2737C>T | |
| 3 | g.48588291G>C | CA352716995 | COL7A1 | c.2701C>G (p.Gln901Glu) c.2728C>G (p.Gln910Glu) n.2764C>G n.2737C>G | |
| 3 | g.48588291G>T | CA352716998 | COL7A1 | c.2701C>A (p.Gln901Lys) c.2728C>A (p.Gln910Lys) n.2764C>A n.2737C>A | |
| 3 | g.48588292C>A | CA73987066 | COL7A1 | c.2700G>T (p.Trp900Cys) c.2727G>T (p.Trp909Cys) n.2763G>T n.2736G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588292C= | CA1363089481 | COL7A1 | c.2700G= (p.Trp900=) c.2727G= (p.Trp909=) n.2763G= n.2736G= | |
| 3 | g.48588292C>G | CA352717000 | COL7A1 | c.2700G>C (p.Trp900Cys) c.2727G>C (p.Trp909Cys) n.2763G>C n.2736G>C | |
| 3 | g.48588292C>T | CA352716999 | COL7A1 | c.2700G>A (p.Trp900Ter) c.2727G>A (p.Trp909Ter) n.2763G>A n.2736G>A | gnomAD v4 |
| 3 | g.48588293C>A | CA352717014 | COL7A1 | c.2699G>T (p.Trp900Leu) c.2726G>T (p.Trp909Leu) n.2762G>T n.2735G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588293C= | CA1363089486 | COL7A1 | c.2699G= (p.Trp900=) c.2726G= (p.Trp909=) n.2762G= n.2735G= | |
| 3 | g.48588293C>G | CA352717016 | COL7A1 | c.2699G>C (p.Trp900Ser) c.2726G>C (p.Trp909Ser) n.2762G>C n.2735G>C | |
| 3 | g.48588293C>T | CA352717019 | COL7A1 | c.2699G>A (p.Trp900Ter) c.2726G>A (p.Trp909Ter) n.2762G>A n.2735G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588294A>C | CA352717023 | COL7A1 | c.2698T>G (p.Trp900Gly) c.2725T>G (p.Trp909Gly) n.2761T>G n.2734T>G | ClinVar dbSNP |
| 3 | g.48588294A>G | CA352717029 | COL7A1 | c.2698T>C (p.Trp900Arg) c.2725T>C (p.Trp909Arg) n.2761T>C n.2734T>C | |
| 3 | g.48588294A>T | CA352717033 | COL7A1 | c.2698T>A (p.Trp900Arg) c.2725T>A (p.Trp909Arg) n.2761T>A n.2734T>A | |
| 3 | g.48588295G>A | CA433545555 | COL7A1 | c.2697C>T (p.His899=) c.2724C>T (p.His908=) n.2760C>T n.2733C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588295G>C | CA352717034 | COL7A1 | c.2697C>G (p.His899Gln) c.2724C>G (p.His908Gln) n.2760C>G n.2733C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588295G= | CA1363089489 | COL7A1 | c.2697C= (p.His899=) c.2724C= (p.His908=) n.2760C= n.2733C= | |
| 3 | g.48588295G>T | CA352717035 | COL7A1 | c.2697C>A (p.His899Gln) c.2724C>A (p.His908Gln) n.2760C>A n.2733C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588296T>A | CA352717036 | COL7A1 | c.2696A>T (p.His899Leu) c.2723A>T (p.His908Leu) n.2759A>T n.2732A>T | |
| 3 | g.48588296T>C | CA352717043 | COL7A1 | c.2696A>G (p.His899Arg) c.2723A>G (p.His908Arg) n.2759A>G n.2732A>G | |
| 3 | g.48588296T>G | CA352717053 | COL7A1 | c.2696A>C (p.His899Pro) c.2723A>C (p.His908Pro) n.2759A>C n.2732A>C | |
| 3 | g.48588297G>A | CA352717061 | COL7A1 | c.2695C>T (p.His899Tyr) c.2722C>T (p.His908Tyr) n.2758C>T n.2731C>T | |
| 3 | g.48588297G>C | CA352717059 | COL7A1 | c.2695C>G (p.His899Asp) c.2722C>G (p.His908Asp) n.2758C>G n.2731C>G | |
| 3 | g.48588297G>T | CA352717058 | COL7A1 | c.2695C>A (p.His899Asn) c.2722C>A (p.His908Asn) n.2758C>A n.2731C>A | |
| 3 | g.48588298C>A | CA433545556 | COL7A1 | c.2694G>T (p.Leu898=) c.2721G>T (p.Leu907=) n.2757G>T n.2730G>T | |
| 3 | g.48588298C= | CA1363089493 | COL7A1 | c.2694G= (p.Leu898=) c.2721G= (p.Leu907=) n.2757G= n.2730G= | |
| 3 | g.48588298C>G | CA433545557 | COL7A1 | c.2694G>C (p.Leu898=) c.2721G>C (p.Leu907=) n.2757G>C n.2730G>C |