UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 | |
| 3 | g.48588298C>T | CA433545558 | COL7A1 | c.2694G>A (p.Leu898=) c.2721G>A (p.Leu907=) n.2757G>A n.2730G>A | dbSNP |
| 3 | g.48588299A= | CA1363089495 | COL7A1 | c.2693T= (p.Leu898=) c.2720T= (p.Leu907=) n.2756T= n.2729T= | |
| 3 | g.48588299A>C | CA352717065 | COL7A1 | c.2693T>G (p.Leu898Arg) c.2720T>G (p.Leu907Arg) n.2756T>G n.2729T>G | |
| 3 | g.48588299A>G | CA352717069 | COL7A1 | c.2693T>C (p.Leu898Pro) c.2720T>C (p.Leu907Pro) n.2756T>C n.2729T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588299A>T | CA352717071 | COL7A1 | c.2693T>A (p.Leu898Gln) c.2720T>A (p.Leu907Gln) n.2756T>A n.2729T>A | |
| 3 | g.48588300G>A | CA433545559 | COL7A1 | c.2692C>T (p.Leu898=) c.2719C>T (p.Leu907=) n.2755C>T n.2728C>T | |
| 3 | g.48588300G>C | CA352717076 | COL7A1 | c.2692C>G (p.Leu898Val) c.2719C>G (p.Leu907Val) n.2755C>G n.2728C>G | |
| 3 | g.48588300G>T | CA352717077 | COL7A1 | c.2692C>A (p.Leu898Met) c.2719C>A (p.Leu907Met) n.2755C>A n.2728C>A | |
| 3 | g.48588301A>C | CA433545560 | COL7A1 | c.2691T>G (p.Leu897=) c.2718T>G (p.Leu906=) n.2754T>G n.2727T>G | |
| 3 | g.48588301A>G | CA433545561 | COL7A1 | c.2691T>C (p.Leu897=) c.2718T>C (p.Leu906=) n.2754T>C n.2727T>C | |
| 3 | g.48588301A>T | CA433545562 | COL7A1 | c.2691T>A (p.Leu897=) c.2718T>A (p.Leu906=) n.2754T>A n.2727T>A | |
| 3 | g.48588302A>C | CA352717078 | COL7A1 | c.2690T>G (p.Leu897Arg) c.2717T>G (p.Leu906Arg) n.2753T>G n.2726T>G | |
| 3 | g.48588302A>G | CA352717095 | COL7A1 | c.2690T>C (p.Leu897Pro) c.2717T>C (p.Leu906Pro) n.2753T>C n.2726T>C | |
| 3 | g.48588302A>T | CA352717099 | COL7A1 | c.2690T>A (p.Leu897His) c.2717T>A (p.Leu906His) n.2753T>A n.2726T>A | |
| 3 | g.48588303G>A | CA352717104 | COL7A1 | c.2689C>T (p.Leu897Phe) c.2716C>T (p.Leu906Phe) n.2752C>T n.2725C>T | |
| 3 | g.48588303G>C | CA352717110 | COL7A1 | c.2689C>G (p.Leu897Val) c.2716C>G (p.Leu906Val) n.2752C>G n.2725C>G | |
| 3 | g.48588303G>T | CA352717111 | COL7A1 | c.2689C>A (p.Leu897Ile) c.2716C>A (p.Leu906Ile) n.2752C>A n.2725C>A | |
| 3 | g.48588304G>A | CA433545563 | COL7A1 | c.2688C>T (p.Phe896=) c.2715C>T (p.Phe905=) n.2751C>T n.2724C>T | |
| 3 | g.48588304G>C | CA352717113 | COL7A1 | c.2688C>G (p.Phe896Leu) c.2715C>G (p.Phe905Leu) n.2751C>G n.2724C>G | |
| 3 | g.48588304G>T | CA352717115 | COL7A1 | c.2688C>A (p.Phe896Leu) c.2715C>A (p.Phe905Leu) n.2751C>A n.2724C>A | |
| 3 | g.48588305A>C | CA352717123 | COL7A1 | c.2687T>G (p.Phe896Cys) c.2714T>G (p.Phe905Cys) n.2750T>G n.2723T>G | |
| 3 | g.48588305A>G | CA352717125 | COL7A1 | c.2687T>C (p.Phe896Ser) c.2714T>C (p.Phe905Ser) n.2750T>C n.2723T>C | |
| 3 | g.48588305A>T | CA352717121 | COL7A1 | c.2687T>A (p.Phe896Tyr) c.2714T>A (p.Phe905Tyr) n.2750T>A n.2723T>A | |
| 3 | g.48588306A>C | CA352717141 | COL7A1 | c.2686T>G (p.Phe896Val) c.2713T>G (p.Phe905Val) n.2749T>G n.2722T>G | |
| 3 | g.48588306A>G | CA352717127 | COL7A1 | c.2686T>C (p.Phe896Leu) c.2713T>C (p.Phe905Leu) n.2749T>C n.2722T>C | |
| 3 | g.48588306A>T | CA352717132 | COL7A1 | c.2686T>A (p.Phe896Ile) c.2713T>A (p.Phe905Ile) n.2749T>A n.2722T>A | |
| 3 | g.48588307G>A | CA433545564 | COL7A1 | c.2685C>T (p.Gly895=) c.2712C>T (p.Gly904=) n.2748C>T n.2721C>T | |
| 3 | g.48588307G>C | CA433545565 | COL7A1 | c.2685C>G (p.Gly895=) c.2712C>G (p.Gly904=) n.2748C>G n.2721C>G | |
| 3 | g.48588307G= | CA1363089498 | COL7A1 | c.2685C= (p.Gly895=) c.2712C= (p.Gly904=) n.2748C= n.2721C= | |
| 3 | g.48588307G>T | CA433545566 | COL7A1 | c.2685C>A (p.Gly895=) c.2712C>A (p.Gly904=) n.2748C>A n.2721C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588308C>A | CA352717145 | COL7A1 | c.2684G>T (p.Gly895Val) c.2711G>T (p.Gly904Val) n.2747G>T n.2720G>T | |
| 3 | g.48588308C= | CA1363089502 | COL7A1 | c.2684G= (p.Gly895=) c.2711G= (p.Gly904=) n.2747G= n.2720G= | |
| 3 | g.48588308C>G | CA352717150 | COL7A1 | c.2684G>C (p.Gly895Ala) c.2711G>C (p.Gly904Ala) n.2747G>C n.2720G>C | |
| 3 | g.48588308C>T | CA352717153 | COL7A1 | c.2684G>A (p.Gly895Asp) c.2711G>A (p.Gly904Asp) n.2747G>A n.2720G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588309C>A | CA352717155 | COL7A1 | c.2683G>T (p.Gly895Cys) c.2710G>T (p.Gly904Cys) n.2746G>T n.2719G>T | |
| 3 | g.48588309C>G | CA352717156 | COL7A1 | c.2683G>C (p.Gly895Arg) c.2710G>C (p.Gly904Arg) n.2746G>C n.2719G>C | |
| 3 | g.48588309C>T | CA352717157 | COL7A1 | c.2683G>A (p.Gly895Ser) c.2710G>A (p.Gly904Ser) n.2746G>A n.2719G>A | gnomAD v4 |
| 3 | g.48588310C>A | CA352717158 | COL7A1 | c.2682G>T (p.Gln894His) c.2709G>T (p.Gln903His) n.2745G>T n.2718G>T | |
| 3 | g.48588310C>G | CA352717167 | COL7A1 | c.2682G>C (p.Gln894His) c.2709G>C (p.Gln903His) n.2745G>C n.2718G>C | |
| 3 | g.48588310C>T | CA433545567 | COL7A1 | c.2682G>A (p.Gln894=) c.2709G>A (p.Gln903=) n.2745G>A n.2718G>A | |
| 3 | g.48588311T>A | CA73987070 | COL7A1 | c.2681A>T (p.Gln894Leu) c.2708A>T (p.Gln903Leu) n.2744A>T n.2717A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.48588311T>C | CA2380790 | COL7A1 | c.2681A>G (p.Gln894Arg) c.2708A>G (p.Gln903Arg) n.2744A>G n.2717A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588311T>G | CA352717207 | COL7A1 | c.2681A>C (p.Gln894Pro) c.2708A>C (p.Gln903Pro) n.2744A>C n.2717A>C | |
| 3 | g.48588311T= | CA1363089505 | COL7A1 | c.2681A= (p.Gln894=) c.2708A= (p.Gln903=) n.2744A= n.2717A= | |
| 3 | g.48588312G>A | CA352717221 | COL7A1 | c.2680C>T (p.Gln894Ter) c.2707C>T (p.Gln903Ter) n.2743C>T n.2716C>T | |
| 3 | g.48588312G>C | CA352717211 | COL7A1 | c.2680C>G (p.Gln894Glu) c.2707C>G (p.Gln903Glu) n.2743C>G n.2716C>G | |
| 3 | g.48588312G>T | CA352717217 | COL7A1 | c.2680C>A (p.Gln894Lys) c.2707C>A (p.Gln903Lys) n.2743C>A n.2716C>A | |
| 3 | g.48588313C>A | CA433545569 | COL7A1 | c.2679G>T (p.Ala893=) c.2706G>T (p.Ala902=) n.2742G>T n.2715G>T | dbSNP |
| 3 | g.48588313C= | CA1363089513 | COL7A1 | c.2679G= (p.Ala893=) c.2706G= (p.Ala902=) n.2742G= n.2715G= | |
| 3 | g.48588313C>G | CA433545568 | COL7A1 | c.2679G>C (p.Ala893=) c.2706G>C (p.Ala902=) n.2742G>C n.2715G>C | ClinVar |
| 3 | g.48588313C>T | CA2380791 | COL7A1 | c.2679G>A (p.Ala893=) c.2706G>A (p.Ala902=) n.2742G>A n.2715G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48588314G>A | CA352717228 | COL7A1 | c.2678C>T (p.Ala893Val) c.2705C>T (p.Ala902Val) n.2741C>T n.2714C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.48588314G>C | CA352717244 | COL7A1 | c.2678C>G (p.Ala893Gly) c.2705C>G (p.Ala902Gly) n.2741C>G n.2714C>G | dbSNP |
| 3 | g.48588314G= | CA1363089523 | COL7A1 | c.2678C= (p.Ala893=) c.2705C= (p.Ala902=) n.2741C= n.2714C= | |
| 3 | g.48588314G>T | CA73987090 | COL7A1 | c.2678C>A (p.Ala893Glu) c.2705C>A (p.Ala902Glu) n.2741C>A n.2714C>A | dbSNP |
| 3 | g.48588315C>A | CA352717249 | COL7A1 | c.2677G>T (p.Ala893Ser) c.2704G>T (p.Ala902Ser) n.2740G>T n.2713G>T | |
| 3 | g.48588315C>G | CA352717256 | COL7A1 | c.2677G>C (p.Ala893Pro) c.2704G>C (p.Ala902Pro) n.2740G>C n.2713G>C | |
| 3 | g.48588315C>T | CA352717259 | COL7A1 | c.2677G>A (p.Ala893Thr) c.2704G>A (p.Ala902Thr) n.2740G>A n.2713G>A | gnomAD v4 |
| 3 | g.48588316T>A | CA352717262 | COL7A1 | c.2676A>T (p.Arg892Ser) c.2703A>T (p.Arg901Ser) n.2739A>T n.2712A>T | |
| 3 | g.48588316T>C | CA433545570 | COL7A1 | c.2676A>G (p.Arg892=) c.2703A>G (p.Arg901=) n.2739A>G n.2712A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.48588316T>G | CA352717269 | COL7A1 | c.2676A>C (p.Arg892Ser) c.2703A>C (p.Arg901Ser) n.2739A>C n.2712A>C | |
| 3 | g.48588317C>A | CA352717275 | COL7A1 | c.2675G>T (p.Arg892Ile) c.2702G>T (p.Arg901Ile) n.2738G>T n.2711G>T | |
| 3 | g.48588317C>G | CA352717278 | COL7A1 | c.2675G>C (p.Arg892Thr) c.2702G>C (p.Arg901Thr) n.2738G>C n.2711G>C | |
| 3 | g.48588317C>T | CA352717291 | COL7A1 | c.2675G>A (p.Arg892Lys) c.2702G>A (p.Arg901Lys) n.2738G>A n.2711G>A | |
| 3 | g.48588318T>A | CA352717295 | COL7A1 | c.2674A>T (p.Arg892Ter) c.2701A>T (p.Arg901Ter) n.2737A>T n.2710A>T | |
| 3 | g.48588318T>C | CA352717294 | COL7A1 | c.2674A>G (p.Arg892Gly) c.2701A>G (p.Arg901Gly) n.2737A>G n.2710A>G | |
| 3 | g.48588318T>G | CA433545571 | COL7A1 | c.2674A>C (p.Arg892=) c.2701A>C (p.Arg901=) n.2737A>C n.2710A>C | |
| 3 | g.48588319G>A | CA433545572 | COL7A1 | c.2673C>T (p.Pro891=) c.2700C>T (p.Pro900=) n.2736C>T n.2709C>T | |
| 3 | g.48588319G>C | CA433545573 | COL7A1 | c.2673C>G (p.Pro891=) c.2700C>G (p.Pro900=) n.2736C>G n.2709C>G | |
| 3 | g.48588319G>T | CA433545574 | COL7A1 | c.2673C>A (p.Pro891=) c.2700C>A (p.Pro900=) n.2736C>A n.2709C>A | |
| 3 | g.48588320G>A | CA2380792 | COL7A1 | c.2672C>T (p.Pro891Leu) c.2699C>T (p.Pro900Leu) n.2735C>T n.2708C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588320G>C | CA352717298 | COL7A1 | c.2672C>G (p.Pro891Arg) c.2699C>G (p.Pro900Arg) n.2735C>G n.2708C>G | |
| 3 | g.48588320G= | CA1363089525 | COL7A1 | c.2672C= (p.Pro891=) c.2699C= (p.Pro900=) n.2735C= n.2708C= | |
| 3 | g.48588320G>T | CA352717301 | COL7A1 | c.2672C>A (p.Pro891His) c.2699C>A (p.Pro900His) n.2735C>A n.2708C>A | |
| 3 | g.48588321G>A | CA2380793 | COL7A1 | c.2671C>T (p.Pro891Ser) c.2698C>T (p.Pro900Ser) n.2734C>T n.2707C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588321G>C | CA352717313 | COL7A1 | c.2671C>G (p.Pro891Ala) c.2698C>G (p.Pro900Ala) n.2734C>G n.2707C>G | |
| 3 | g.48588321G= | CA1363089528 | COL7A1 | c.2671C= (p.Pro891=) c.2698C= (p.Pro900=) n.2734C= n.2707C= | |
| 3 | g.48588321G>T | CA352717319 | COL7A1 | c.2671C>A (p.Pro891Thr) c.2698C>A (p.Pro900Thr) n.2734C>A n.2707C>A | |
| 3 | g.48588322C>A | CA433545575 | COL7A1 | c.2670G>T (p.Val890=) c.2697G>T (p.Val899=) n.2733G>T n.2706G>T | |
| 3 | g.48588322C= | CA1363089531 | COL7A1 | c.2670G= (p.Val890=) c.2697G= (p.Val899=) n.2733G= n.2706G= | |
| 3 | g.48588322C>G | CA433545576 | COL7A1 | c.2670G>C (p.Val890=) c.2697G>C (p.Val899=) n.2733G>C n.2706G>C | |
| 3 | g.48588322C>T | CA433545577 | COL7A1 | c.2670G>A (p.Val890=) c.2697G>A (p.Val899=) n.2733G>A n.2706G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588323A>C | CA352717335 | COL7A1 | c.2669T>G (p.Val890Gly) c.2696T>G (p.Val899Gly) n.2732T>G n.2705T>G | |
| 3 | g.48588323A>G | CA352717330 | COL7A1 | c.2669T>C (p.Val890Ala) c.2696T>C (p.Val899Ala) n.2732T>C n.2705T>C | |
| 3 | g.48588323A>T | CA352717329 | COL7A1 | c.2669T>A (p.Val890Glu) c.2696T>A (p.Val899Glu) n.2732T>A n.2705T>A | |
| 3 | g.48588324C>A | CA352717336 | COL7A1 | c.2668G>T (p.Val890Leu) c.2695G>T (p.Val899Leu) n.2731G>T n.2704G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588324C= | CA1363089537 | COL7A1 | c.2668G= (p.Val890=) c.2695G= (p.Val899=) n.2731G= n.2704G= | |
| 3 | g.48588324C>G | CA352717340 | COL7A1 | c.2668G>C (p.Val890Leu) c.2695G>C (p.Val899Leu) n.2731G>C n.2704G>C | |
| 3 | g.48588324C>T | CA352717343 | COL7A1 | c.2668G>A (p.Val890Met) c.2695G>A (p.Val899Met) n.2731G>A n.2704G>A | |
| 3 | g.48588325C>A | CA433545578 | COL7A1 | c.2667G>T (p.Pro889=) c.2694G>T (p.Pro898=) n.2730G>T n.2703G>T | |
| 3 | g.48588325C= | CA1363089542 | COL7A1 | c.2667G= (p.Pro889=) c.2694G= (p.Pro898=) n.2730G= n.2703G= | |
| 3 | g.48588325C>G | CA433545579 | COL7A1 | c.2667G>C (p.Pro889=) c.2694G>C (p.Pro898=) n.2730G>C n.2703G>C | gnomAD v4 |
| 3 | g.48588325C>T | CA433545580 | COL7A1 | c.2667G>A (p.Pro889=) c.2694G>A (p.Pro898=) n.2730G>A n.2703G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588326G>A | CA2380794 | COL7A1 | c.2666C>T (p.Pro889Leu) c.2693C>T (p.Pro898Leu) n.2729C>T n.2702C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588326G>C | CA352717359 | COL7A1 | c.2666C>G (p.Pro889Arg) c.2693C>G (p.Pro898Arg) n.2729C>G n.2702C>G | |
| 3 | g.48588326G= | CA1363089548 | COL7A1 | c.2666C= (p.Pro889=) c.2693C= (p.Pro898=) n.2729C= n.2702C= | |
| 3 | g.48588326G>T | CA352717365 | COL7A1 | c.2666C>A (p.Pro889Gln) c.2693C>A (p.Pro898Gln) n.2729C>A n.2702C>A | |
| 3 | g.48588327G>A | CA352717368 | COL7A1 | c.2665C>T (p.Pro889Ser) c.2692C>T (p.Pro898Ser) n.2728C>T n.2701C>T | |
| 3 | g.48588327G>C | CA352717378 | COL7A1 | c.2665C>G (p.Pro889Ala) c.2692C>G (p.Pro898Ala) n.2728C>G n.2701C>G | |
| 3 | g.48588327G>T | CA352717371 | COL7A1 | c.2665C>A (p.Pro889Thr) c.2692C>A (p.Pro898Thr) n.2728C>A n.2701C>A | gnomAD v4 |
| 3 | g.48588328C>A | CA352717392 | COL7A1 | c.2664G>T (p.Glu888Asp) c.2691G>T (p.Glu897Asp) n.2727G>T n.2700G>T | |
| 3 | g.48588328C>G | CA352717412 | COL7A1 | c.2664G>C (p.Glu888Asp) c.2691G>C (p.Glu897Asp) n.2727G>C n.2700G>C | |
| 3 | g.48588328C>T | CA433545581 | COL7A1 | c.2664G>A (p.Glu888=) c.2691G>A (p.Glu897=) n.2727G>A n.2700G>A | |
| 3 | g.48588329T>A | CA352717416 | COL7A1 | c.2663A>T (p.Glu888Val) c.2690A>T (p.Glu897Val) n.2726A>T n.2699A>T | |
| 3 | g.48588329T>C | CA352717417 | COL7A1 | c.2663A>G (p.Glu888Gly) c.2690A>G (p.Glu897Gly) n.2726A>G n.2699A>G | |
| 3 | g.48588329T>G | CA352717419 | COL7A1 | c.2663A>C (p.Glu888Ala) c.2690A>C (p.Glu897Ala) n.2726A>C n.2699A>C | |
| 3 | g.48588329_48588354delinsTCCCAGCGCAGCCTCAGCGAGTGCTC | CA1363089550 | COL7A1 | c.2638_2663delinsGAGCACTCGCTGAGGCTGCGCTGGGA (p.Glu880=) c.2665_2690delinsGAGCACTCGCTGAGGCTGCGCTGGGA (p.Glu889=) n.2701_2726delinsGAGCACTCGCTGAGGCTGCGCTGGGA n.2674_2699delinsGAGCACTCGCTGAGGCTGCGCTGGGA | |
| 3 | g.48588330C>A | CA352717421 | COL7A1 | c.2662G>T (p.Glu888Ter) c.2689G>T (p.Glu897Ter) n.2725G>T n.2698G>T | |
| 3 | g.48588330C= | CA1363089556 | COL7A1 | c.2662G= (p.Glu888=) c.2689G= (p.Glu897=) n.2725G= n.2698G= | |
| 3 | g.48588330C>G | CA2380795 | COL7A1 | c.2662G>C (p.Glu888Gln) c.2689G>C (p.Glu897Gln) n.2725G>C n.2698G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588330C>T | CA352717428 | COL7A1 | c.2662G>A (p.Glu888Lys) c.2689G>A (p.Glu897Lys) n.2725G>A n.2698G>A | |
| 3 | g.48588333_48588357del | CA73987119 | COL7A1 | c.2638_2662del (p.Glu880SerfsTer?) c.2665_2689del (p.Glu889SerfsTer?) n.2701_2725del n.2674_2698del | dbSNP gnomAD v4 |
| 3 | g.48588331C>A | CA352717437 | COL7A1 | c.2661G>T (p.Trp887Cys) c.2688G>T (p.Trp896Cys) n.2724G>T n.2697G>T | |
| 3 | g.48588331C>G | CA352717443 | COL7A1 | c.2661G>C (p.Trp887Cys) c.2688G>C (p.Trp896Cys) n.2724G>C n.2697G>C | |
| 3 | g.48588331C>T | CA352717446 | COL7A1 | c.2661G>A (p.Trp887Ter) c.2688G>A (p.Trp896Ter) n.2724G>A n.2697G>A | |
| 3 | g.48588332C>A | CA352717449 | COL7A1 | c.2660G>T (p.Trp887Leu) c.2687G>T (p.Trp896Leu) n.2723G>T n.2696G>T | |
| 3 | g.48588332C>G | CA352717452 | COL7A1 | c.2660G>C (p.Trp887Ser) c.2687G>C (p.Trp896Ser) n.2723G>C n.2696G>C | |
| 3 | g.48588332C>T | CA352717450 | COL7A1 | c.2660G>A (p.Trp887Ter) c.2687G>A (p.Trp896Ter) n.2723G>A n.2696G>A | |
| 3 | g.48588333A>C | CA352717459 | COL7A1 | c.2659T>G (p.Trp887Gly) c.2686T>G (p.Trp896Gly) n.2722T>G n.2695T>G | |
| 3 | g.48588333A>G | CA352717466 | COL7A1 | c.2659T>C (p.Trp887Arg) c.2686T>C (p.Trp896Arg) n.2722T>C n.2695T>C | |
| 3 | g.48588333A>T | CA352717465 | COL7A1 | c.2659T>A (p.Trp887Arg) c.2686T>A (p.Trp896Arg) n.2722T>A n.2695T>A | |
| 3 | g.48588334G>A | CA433545582 | COL7A1 | c.2658C>T (p.Arg886=) c.2685C>T (p.Arg895=) n.2721C>T n.2694C>T | |
| 3 | g.48588334G>C | CA433545584 | COL7A1 | c.2658C>G (p.Arg886=) c.2685C>G (p.Arg895=) n.2721C>G n.2694C>G | |
| 3 | g.48588334G>T | CA433545583 | COL7A1 | c.2658C>A (p.Arg886=) c.2685C>A (p.Arg895=) n.2721C>A n.2694C>A | |
| 3 | g.48588335C>A | CA2380798 | COL7A1 | c.2657G>T (p.Arg886Leu) c.2684G>T (p.Arg895Leu) n.2720G>T n.2693G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588335C= | CA1363089562 | COL7A1 | c.2657G= (p.Arg886=) c.2684G= (p.Arg895=) n.2720G= n.2693G= | |
| 3 | g.48588335C>G | CA2380797 | COL7A1 | c.2657G>C (p.Arg886Pro) c.2684G>C (p.Arg895Pro) n.2720G>C n.2693G>C | dbSNP ExAC gnomAD v2 |
| 3 | g.48588335C>T | CA2380796 | COL7A1 | c.2657G>A (p.Arg886His) c.2684G>A (p.Arg895His) n.2720G>A n.2693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588336G>A | CA2380800 | COL7A1 | c.2656C>T (p.Arg886Cys) c.2683C>T (p.Arg895Cys) n.2719C>T n.2692C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588336G>C | CA352717481 | COL7A1 | c.2656C>G (p.Arg886Gly) c.2683C>G (p.Arg895Gly) n.2719C>G n.2692C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588336G= | CA1363089570 | COL7A1 | c.2656C= (p.Arg886=) c.2683C= (p.Arg895=) n.2719C= n.2692C= | |
| 3 | g.48588336G>T | CA2380799 | COL7A1 | c.2656C>A (p.Arg886Ser) c.2683C>A (p.Arg895Ser) n.2719C>A n.2692C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588337C>A | CA433545585 | COL7A1 | c.2655G>T (p.Leu885=) c.2682G>T (p.Leu894=) n.2718G>T n.2691G>T | |
| 3 | g.48588337C>G | CA433545586 | COL7A1 | c.2655G>C (p.Leu885=) c.2682G>C (p.Leu894=) n.2718G>C n.2691G>C | |
| 3 | g.48588337C>T | CA433545587 | COL7A1 | c.2655G>A (p.Leu885=) c.2682G>A (p.Leu894=) n.2718G>A n.2691G>A | ClinVar gnomAD v4 |
| 3 | g.48588338A= | CA1363089572 | COL7A1 | c.2654T= (p.Leu885=) c.2681T= (p.Leu894=) n.2717T= n.2690T= | |
| 3 | g.48588338A>C | CA352717495 | COL7A1 | c.2654T>G (p.Leu885Arg) c.2681T>G (p.Leu894Arg) n.2717T>G n.2690T>G | COSMIC |
| 3 | g.48588338A>G | CA2380801 | COL7A1 | c.2654T>C (p.Leu885Pro) c.2681T>C (p.Leu894Pro) n.2717T>C n.2690T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588338A>T | CA352717507 | COL7A1 | c.2654T>A (p.Leu885Gln) c.2681T>A (p.Leu894Gln) n.2717T>A n.2690T>A | |
| 3 | g.48588339G>A | CA433545588 | COL7A1 | c.2653C>T (p.Leu885=) c.2680C>T (p.Leu894=) n.2716C>T n.2689C>T | |
| 3 | g.48588339G>C | CA352717516 | COL7A1 | c.2653C>G (p.Leu885Val) c.2680C>G (p.Leu894Val) n.2716C>G n.2689C>G | |
| 3 | g.48588339G>T | CA352717519 | COL7A1 | c.2653C>A (p.Leu885Met) c.2680C>A (p.Leu894Met) n.2716C>A n.2689C>A | |
| 3 | g.48588340C>A | CA352717520 | COL7A1 | c.2652G>T (p.Arg884Ser) c.2679G>T (p.Arg893Ser) n.2715G>T n.2688G>T | gnomAD v4 |
| 3 | g.48588340C>G | CA352717521 | COL7A1 | c.2652G>C (p.Arg884Ser) c.2679G>C (p.Arg893Ser) n.2715G>C n.2688G>C | |
| 3 | g.48588340C>T | CA433545589 | COL7A1 | c.2652G>A (p.Arg884=) c.2679G>A (p.Arg893=) n.2715G>A n.2688G>A | gnomAD v4 |
| 3 | g.48588341C>A | CA352717522 | COL7A1 | c.2651G>T (p.Arg884Met) c.2678G>T (p.Arg893Met) n.2714G>T n.2687G>T | |
| 3 | g.48588341C>G | CA352717524 | COL7A1 | c.2651G>C (p.Arg884Thr) c.2678G>C (p.Arg893Thr) n.2714G>C n.2687G>C | |
| 3 | g.48588341C>T | CA352717528 | COL7A1 | c.2651G>A (p.Arg884Lys) c.2678G>A (p.Arg893Lys) n.2714G>A n.2687G>A | |
| 3 | g.48588342T>A | CA352717531 | COL7A1 | c.2650A>T (p.Arg884Trp) c.2677A>T (p.Arg893Trp) n.2713A>T n.2686A>T | |
| 3 | g.48588342T>C | CA352717540 | COL7A1 | c.2650A>G (p.Arg884Gly) c.2677A>G (p.Arg893Gly) n.2713A>G n.2686A>G | gnomAD v4 |
| 3 | g.48588342T>G | CA433545590 | COL7A1 | c.2650A>C (p.Arg884=) c.2677A>C (p.Arg893=) n.2713A>C n.2686A>C | |
| 3 | g.48588343C>A | CA433545591 | COL7A1 | c.2649G>T (p.Leu883=) c.2676G>T (p.Leu892=) n.2712G>T n.2685G>T | |
| 3 | g.48588343C>G | CA433545592 | COL7A1 | c.2649G>C (p.Leu883=) c.2676G>C (p.Leu892=) n.2712G>C n.2685G>C | |
| 3 | g.48588343C>T | CA433545593 | COL7A1 | c.2649G>A (p.Leu883=) c.2676G>A (p.Leu892=) n.2712G>A n.2685G>A | ClinVar COSMIC |
| 3 | g.48588344A>C | CA352717547 | COL7A1 | c.2648T>G (p.Leu883Arg) c.2675T>G (p.Leu892Arg) n.2711T>G n.2684T>G | |
| 3 | g.48588344A>G | CA352717549 | COL7A1 | c.2648T>C (p.Leu883Pro) c.2675T>C (p.Leu892Pro) n.2711T>C n.2684T>C | |
| 3 | g.48588344A>T | CA352717548 | COL7A1 | c.2648T>A (p.Leu883Gln) c.2675T>A (p.Leu892Gln) n.2711T>A n.2684T>A | |
| 3 | g.48588346_48588349del | CA2586972285 | COL7A1 | c.2645_2648del (p.Ser882Ter) c.2672_2675del (p.Ser891Ter) n.2708_2711del n.2681_2684del | |
| 3 | g.48588345G>A | CA433545594 | COL7A1 | c.2647C>T (p.Leu883=) c.2674C>T (p.Leu892=) n.2710C>T n.2683C>T | |
| 3 | g.48588345G>C | CA352717550 | COL7A1 | c.2647C>G (p.Leu883Val) c.2674C>G (p.Leu892Val) n.2710C>G n.2683C>G | |
| 3 | g.48588345G>T | CA352717553 | COL7A1 | c.2647C>A (p.Leu883Met) c.2674C>A (p.Leu892Met) n.2710C>A n.2683C>A | |
| 3 | g.48588346C>A | CA433545595 | COL7A1 | c.2646G>T (p.Ser882=) c.2673G>T (p.Ser891=) n.2709G>T n.2682G>T | COSMIC |
| 3 | g.48588346C= | CA1363089575 | COL7A1 | c.2646G= (p.Ser882=) c.2673G= (p.Ser891=) n.2709G= n.2682G= | |
| 3 | g.48588346C>G | CA433545596 | COL7A1 | c.2646G>C (p.Ser882=) c.2673G>C (p.Ser891=) n.2709G>C n.2682G>C | dbSNP gnomAD v4 |
| 3 | g.48588346C>T | CA2380802 | COL7A1 | c.2646G>A (p.Ser882=) c.2673G>A (p.Ser891=) n.2709G>A n.2682G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48588348_48588358del | CA2573137324 | COL7A1 | c.2636_2646del (p.Gly879AlafsTer21) c.2663_2673del (p.Gly888AlafsTer21) n.2699_2709del n.2672_2682del | ClinVar dbSNP |
| 3 | g.48588347G>A | CA2380803 | COL7A1 | c.2645C>T (p.Ser882Leu) c.2672C>T (p.Ser891Leu) n.2708C>T n.2681C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588347G>C | CA352717556 | COL7A1 | c.2645C>G (p.Ser882Trp) c.2672C>G (p.Ser891Trp) n.2708C>G n.2681C>G | |
| 3 | g.48588347G= | CA1363089581 | COL7A1 | c.2645C= (p.Ser882=) c.2672C= (p.Ser891=) n.2708C= n.2681C= | |
| 3 | g.48588347G>T | CA352717557 | COL7A1 | c.2645C>A (p.Ser882Ter) c.2672C>A (p.Ser891Ter) n.2708C>A n.2681C>A | |
| 3 | g.48588347_48588351dup | CA2577588834 | COL7A1 | c.2641_2645dup (p.Leu883ThrfsTer3) c.2668_2672dup (p.Leu892ThrfsTer3) n.2704_2708dup n.2677_2681dup | |
| 3 | g.48588348A= | CA1363089587 | COL7A1 | c.2644T= (p.Ser882=) c.2671T= (p.Ser891=) n.2707T= n.2680T= | |
| 3 | g.48588348A>C | CA352717562 | COL7A1 | c.2644T>G (p.Ser882Ala) c.2671T>G (p.Ser891Ala) n.2707T>G n.2680T>G | |
| 3 | g.48588348A>G | CA352717563 | COL7A1 | c.2644T>C (p.Ser882Pro) c.2671T>C (p.Ser891Pro) n.2707T>C n.2680T>C | ClinVar dbSNP |
| 3 | g.48588348A>T | CA352717564 | COL7A1 | c.2644T>A (p.Ser882Thr) c.2671T>A (p.Ser891Thr) n.2707T>A n.2680T>A | |
| 3 | g.48588349G>A | CA2380804 | COL7A1 | c.2643C>T (p.His881=) c.2670C>T (p.His890=) n.2706C>T n.2679C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588349G>C | CA352717566 | COL7A1 | c.2643C>G (p.His881Gln) c.2670C>G (p.His890Gln) n.2706C>G n.2679C>G | |
| 3 | g.48588349G= | CA1363089589 | COL7A1 | c.2643C= (p.His881=) c.2670C= (p.His890=) n.2706C= n.2679C= | |
| 3 | g.48588349G>T | CA352717569 | COL7A1 | c.2643C>A (p.His881Gln) c.2670C>A (p.His890Gln) n.2706C>A n.2679C>A | gnomAD v4 |
| 3 | g.48588350T>A | CA352717577 | COL7A1 | c.2642A>T (p.His881Leu) c.2669A>T (p.His890Leu) n.2705A>T n.2678A>T | |
| 3 | g.48588350T>C | CA352717575 | COL7A1 | c.2642A>G (p.His881Arg) c.2669A>G (p.His890Arg) n.2705A>G n.2678A>G | |
| 3 | g.48588350T>G | CA352717576 | COL7A1 | c.2642A>C (p.His881Pro) c.2669A>C (p.His890Pro) n.2705A>C n.2678A>C | |
| 3 | g.48588351G>A | CA352717578 | COL7A1 | c.2641C>T (p.His881Tyr) c.2668C>T (p.His890Tyr) n.2704C>T n.2677C>T | gnomAD v4 |
| 3 | g.48588351G>C | CA352717583 | COL7A1 | c.2641C>G (p.His881Asp) c.2668C>G (p.His890Asp) n.2704C>G n.2677C>G | |
| 3 | g.48588351G>T | CA352717607 | COL7A1 | c.2641C>A (p.His881Asn) c.2668C>A (p.His890Asn) n.2704C>A n.2677C>A | |
| 3 | g.48588352C>A | CA352717614 | COL7A1 | c.2640G>T (p.Glu880Asp) c.2667G>T (p.Glu889Asp) n.2703G>T n.2676G>T | ClinVar gnomAD v4 |
| 3 | g.48588352C= | CA1363089591 | COL7A1 | c.2640G= (p.Glu880=) c.2667G= (p.Glu889=) n.2703G= n.2676G= | |
| 3 | g.48588352C>G | CA352717615 | COL7A1 | c.2640G>C (p.Glu880Asp) c.2667G>C (p.Glu889Asp) n.2703G>C n.2676G>C | |
| 3 | g.48588352C>T | CA433545597 | COL7A1 | c.2640G>A (p.Glu880=) c.2667G>A (p.Glu889=) n.2703G>A n.2676G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588353T>A | CA352717616 | COL7A1 | c.2639A>T (p.Glu880Val) c.2666A>T (p.Glu889Val) n.2702A>T n.2675A>T | |
| 3 | g.48588353T>C | CA352717617 | COL7A1 | c.2639A>G (p.Glu880Gly) c.2666A>G (p.Glu889Gly) n.2702A>G n.2675A>G | |
| 3 | g.48588353T>G | CA352717618 | COL7A1 | c.2639A>C (p.Glu880Ala) c.2666A>C (p.Glu889Ala) n.2702A>C n.2675A>C | |
| 3 | g.48588353_48588354delinsTC | CA1363089595 | COL7A1 | c.2638_2639delinsGA (p.Glu880=) c.2665_2666delinsGA (p.Glu889=) n.2701_2702delinsGA n.2674_2675delinsGA | |
| 3 | g.48588354C>A | CA352717623 | COL7A1 | c.2638G>T (p.Glu880Ter) c.2665G>T (p.Glu889Ter) n.2701G>T n.2674G>T | |
| 3 | g.48588354C>G | CA352717633 | COL7A1 | c.2638G>C (p.Glu880Gln) c.2665G>C (p.Glu889Gln) n.2701G>C n.2674G>C | |
| 3 | g.48588354C>T | CA352717631 | COL7A1 | c.2638G>A (p.Glu880Lys) c.2665G>A (p.Glu889Lys) n.2701G>A n.2674G>A | gnomAD v4 |
| 3 | g.48588357dup | CA2580069959 | COL7A1 | c.2638dup (p.Glu880GlyfsTer24) c.2665dup (p.Glu889GlyfsTer24) n.2701dup n.2674dup | ClinVar |
| 3 | g.48588357del | CA1047676155 | COL7A1 | c.2638del (p.Glu880SerfsTer4) c.2665del (p.Glu889SerfsTer4) n.2701del n.2674del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588355C>A | CA433545599 | COL7A1 | c.2637G>T (p.Gly879=) c.2664G>T (p.Gly888=) n.2700G>T n.2673G>T | |
| 3 | g.48588355C= | CA1363089600 | COL7A1 | c.2637G= (p.Gly879=) c.2664G= (p.Gly888=) n.2700G= n.2673G= | |
| 3 | g.48588355C>G | CA2380805 | COL7A1 | c.2637G>C (p.Gly879=) c.2664G>C (p.Gly888=) n.2700G>C n.2673G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588355C>T | CA433545598 | COL7A1 | c.2637G>A (p.Gly879=) c.2664G>A (p.Gly888=) n.2700G>A n.2673G>A | |
| 3 | g.48588356C>A | CA352717649 | COL7A1 | c.2636G>T (p.Gly879Val) c.2663G>T (p.Gly888Val) n.2699G>T n.2672G>T | gnomAD v4 |
| 3 | g.48588356C>G | CA352717651 | COL7A1 | c.2636G>C (p.Gly879Ala) c.2663G>C (p.Gly888Ala) n.2699G>C n.2672G>C | |
| 3 | g.48588356C>T | CA352717654 | COL7A1 | c.2636G>A (p.Gly879Glu) c.2663G>A (p.Gly888Glu) n.2699G>A n.2672G>A | |
| 3 | g.48588357C>A | CA352717657 | COL7A1 | c.2635G>T (p.Gly879Trp) c.2662G>T (p.Gly888Trp) n.2698G>T n.2671G>T | |
| 3 | g.48588357C= | CA1363089603 | COL7A1 | c.2635G= (p.Gly879=) c.2662G= (p.Gly888=) n.2698G= n.2671G= | |
| 3 | g.48588357C>G | CA352717661 | COL7A1 | c.2635G>C (p.Gly879Arg) c.2662G>C (p.Gly888Arg) n.2698G>C n.2671G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588357C>T | CA2380806 | COL7A1 | c.2635G>A (p.Gly879Arg) c.2662G>A (p.Gly888Arg) n.2698G>A n.2671G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588360_48588361dup | CA2586972288 | COL7A1 | c.2634_2635dup (p.Gly879AlafsTer6) c.2661_2662dup (p.Gly888AlafsTer6) n.2697_2698dup n.2670_2671dup | |
| 3 | g.48588358G>A | CA2380808 | COL7A1 | c.2634C>T (p.Arg878=) c.2661C>T (p.Arg887=) n.2697C>T n.2670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588358G>C | CA2380809 | COL7A1 | c.2634C>G (p.Arg878=) c.2661C>G (p.Arg887=) n.2697C>G n.2670C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588358G= | CA1363089609 | COL7A1 | c.2634C= (p.Arg878=) c.2661C= (p.Arg887=) n.2697C= n.2670C= | |
| 3 | g.48588358G>T | CA433545600 | COL7A1 | c.2634C>A (p.Arg878=) c.2661C>A (p.Arg887=) n.2697C>A n.2670C>A | |
| 3 | g.48588358_48588360dup | CA2380807 | COL7A1 | c.2632_2634dup (p.Arg878_Gly879insArg) c.2659_2661dup (p.Arg887_Gly888insArg) n.2695_2697dup n.2668_2670dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588359C>A | CA352717694 | COL7A1 | c.2633G>T (p.Arg878Leu) c.2660G>T (p.Arg887Leu) n.2696G>T n.2669G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588359C= | CA1363089615 | COL7A1 | c.2633G= (p.Arg878=) c.2660G= (p.Arg887=) n.2696G= n.2669G= | |
| 3 | g.48588359C>G | CA352717702 | COL7A1 | c.2633G>C (p.Arg878Pro) c.2660G>C (p.Arg887Pro) n.2696G>C n.2669G>C | |
| 3 | g.48588359C>T | CA2380810 | COL7A1 | c.2633G>A (p.Arg878His) c.2660G>A (p.Arg887His) n.2696G>A n.2669G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588360G>A | CA2380811 | COL7A1 | c.2632C>T (p.Arg878Cys) c.2659C>T (p.Arg887Cys) n.2695C>T n.2668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588360G>C | CA352717717 | COL7A1 | c.2632C>G (p.Arg878Gly) c.2659C>G (p.Arg887Gly) n.2695C>G n.2668C>G | |
| 3 | g.48588360G= | CA1363089617 | COL7A1 | c.2632C= (p.Arg878=) c.2659C= (p.Arg887=) n.2695C= n.2668C= | |
| 3 | g.48588360G>T | CA352717725 | COL7A1 | c.2632C>A (p.Arg878Ser) c.2659C>A (p.Arg887Ser) n.2695C>A n.2668C>A | |
| 3 | g.48588361C>A | CA352717729 | COL7A1 | c.2631G>T (p.Gln877His) c.2658G>T (p.Gln886His) n.2694G>T n.2667G>T | gnomAD v4 |
| 3 | g.48588361C= | CA1363089619 | COL7A1 | c.2631G= (p.Gln877=) c.2658G= (p.Gln886=) n.2694G= n.2667G= | |
| 3 | g.48588361C>G | CA352717742 | COL7A1 | c.2631G>C (p.Gln877His) c.2658G>C (p.Gln886His) n.2694G>C n.2667G>C | |
| 3 | g.48588361C>T | CA433545601 | COL7A1 | c.2631G>A (p.Gln877=) c.2658G>A (p.Gln886=) n.2694G>A n.2667G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588362T>A | CA352717758 | COL7A1 | c.2630A>T (p.Gln877Leu) c.2657A>T (p.Gln886Leu) n.2693A>T n.2666A>T | |
| 3 | g.48588362T>C | CA352717746 | COL7A1 | c.2630A>G (p.Gln877Arg) c.2657A>G (p.Gln886Arg) n.2693A>G n.2666A>G | |
| 3 | g.48588362T>G | CA352717754 | COL7A1 | c.2630A>C (p.Gln877Pro) c.2657A>C (p.Gln886Pro) n.2693A>C n.2666A>C | |
| 3 | g.48588363G>A | CA352717761 | COL7A1 | c.2629C>T (p.Gln877Ter) c.2656C>T (p.Gln886Ter) n.2692C>T n.2665C>T | gnomAD v4 |
| 3 | g.48588363G>C | CA352717764 | COL7A1 | c.2629C>G (p.Gln877Glu) c.2656C>G (p.Gln886Glu) n.2692C>G n.2665C>G | |
| 3 | g.48588363G>T | CA352717770 | COL7A1 | c.2629C>A (p.Gln877Lys) c.2656C>A (p.Gln886Lys) n.2692C>A n.2665C>A | gnomAD v4 |
| 3 | g.48588364C>A | CA433545602 | COL7A1 | c.2628G>T (p.Val876=) c.2655G>T (p.Val885=) n.2691G>T n.2664G>T | |
| 3 | g.48588364C= | CA1363089620 | COL7A1 | c.2628G= (p.Val876=) c.2655G= (p.Val885=) n.2691G= n.2664G= | |
| 3 | g.48588364C>G | CA433545603 | COL7A1 | c.2628G>C (p.Val876=) c.2655G>C (p.Val885=) n.2691G>C n.2664G>C | |
| 3 | g.48588364C>T | CA433545604 | COL7A1 | c.2628G>A (p.Val876=) c.2655G>A (p.Val885=) n.2691G>A n.2664G>A | dbSNP |
| 3 | g.48588365A= | CA1363089622 | COL7A1 | c.2627T= (p.Val876=) c.2654T= (p.Val885=) n.2690T= n.2663T= | |
| 3 | g.48588365A>C | CA352717775 | COL7A1 | c.2627T>G (p.Val876Gly) c.2654T>G (p.Val885Gly) n.2690T>G n.2663T>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.48588365A>G | CA352717781 | COL7A1 | c.2627T>C (p.Val876Ala) c.2654T>C (p.Val885Ala) n.2690T>C n.2663T>C | |
| 3 | g.48588365A>T | CA352717785 | COL7A1 | c.2627T>A (p.Val876Glu) c.2654T>A (p.Val885Glu) n.2690T>A n.2663T>A | |
| 3 | g.48588366C>A | CA352717809 | COL7A1 | c.2626G>T (p.Val876Leu) c.2653G>T (p.Val885Leu) n.2689G>T n.2662G>T | |
| 3 | g.48588366C>G | CA352717805 | COL7A1 | c.2626G>C (p.Val876Leu) c.2653G>C (p.Val885Leu) n.2689G>C n.2662G>C | gnomAD v4 |
| 3 | g.48588366C>T | CA352717802 | COL7A1 | c.2626G>A (p.Val876Met) c.2653G>A (p.Val885Met) n.2689G>A n.2662G>A | |
| 3 | g.48588366_48588367delinsAG | CA1363089625 | COL7A1 | c.2625_2626delinsCT (p.Val876Leu) c.2652_2653delinsCT (p.Val885Leu) n.2688_2689delinsCT n.2661_2662delinsCT | ClinVar dbSNP |
| 3 | g.48588366_48588367delinsCC | CA1363089624 | COL7A1 | c.2625_2626delinsGG (p.Val875=) c.2652_2653delinsGG (p.Val884=) n.2688_2689delinsGG n.2661_2662delinsGG | |
| 3 | g.48588367C>A | CA433545606 | COL7A1 | c.2625G>T (p.Val875=) c.2652G>T (p.Val884=) n.2688G>T n.2661G>T | dbSNP |
| 3 | g.48588367C>G | CA433545607 | COL7A1 | c.2625G>C (p.Val875=) c.2652G>C (p.Val884=) n.2688G>C n.2661G>C | |
| 3 | g.48588367C>T | CA433545608 | COL7A1 | c.2625G>A (p.Val875=) c.2652G>A (p.Val884=) n.2688G>A n.2661G>A | ClinVar |
| 3 | g.48588368A>C | CA352717814 | COL7A1 | c.2624T>G (p.Val875Gly) c.2651T>G (p.Val884Gly) n.2687T>G n.2660T>G | |
| 3 | g.48588368A>G | CA352717820 | COL7A1 | c.2624T>C (p.Val875Ala) c.2651T>C (p.Val884Ala) n.2687T>C n.2660T>C | |
| 3 | g.48588368A>T | CA352717824 | COL7A1 | c.2624T>A (p.Val875Glu) c.2651T>A (p.Val884Glu) n.2687T>A n.2660T>A | |
| 3 | g.48588369C>A | CA352717828 | COL7A1 | c.2623G>T (p.Val875Leu) c.2650G>T (p.Val884Leu) n.2686G>T n.2659G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588369C= | CA1363089627 | COL7A1 | c.2623G= (p.Val875=) c.2650G= (p.Val884=) n.2686G= n.2659G= | |
| 3 | g.48588369C>G | CA352717834 | COL7A1 | c.2623G>C (p.Val875Leu) c.2650G>C (p.Val884Leu) n.2686G>C n.2659G>C | ClinVar |
| 3 | g.48588369C>T | CA2380812 | COL7A1 | c.2623G>A (p.Val875Met) c.2650G>A (p.Val884Met) n.2686G>A n.2659G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48588370G>A | CA2380813 | COL7A1 | c.2622C>T (p.His874=) c.2649C>T (p.His883=) n.2685C>T n.2658C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588370G>C | CA352717838 | COL7A1 | c.2622C>G (p.His874Gln) c.2649C>G (p.His883Gln) n.2685C>G n.2658C>G | |
| 3 | g.48588370G= | CA1363089631 | COL7A1 | c.2622C= (p.His874=) c.2649C= (p.His883=) n.2685C= n.2658C= | |
| 3 | g.48588370G>T | CA352717837 | COL7A1 | c.2622C>A (p.His874Gln) c.2649C>A (p.His883Gln) n.2685C>A n.2658C>A | ClinVar |
| 3 | g.48588371T>A | CA352717840 | COL7A1 | c.2621A>T (p.His874Leu) c.2648A>T (p.His883Leu) n.2684A>T n.2657A>T | ClinVar |
| 3 | g.48588371T>C | CA352717841 | COL7A1 | c.2621A>G (p.His874Arg) c.2648A>G (p.His883Arg) n.2684A>G n.2657A>G | |
| 3 | g.48588371T>G | CA352717842 | COL7A1 | c.2621A>C (p.His874Pro) c.2648A>C (p.His883Pro) n.2684A>C n.2657A>C | |
| 3 | g.48588372G>A | CA352717843 | COL7A1 | c.2620C>T (p.His874Tyr) c.2647C>T (p.His883Tyr) n.2683C>T n.2656C>T | gnomAD v4 |
| 3 | g.48588372G>C | CA352717845 | COL7A1 | c.2620C>G (p.His874Asp) c.2647C>G (p.His883Asp) n.2683C>G n.2656C>G | |
| 3 | g.48588372G>T | CA352717848 | COL7A1 | c.2620C>A (p.His874Asn) c.2647C>A (p.His883Asn) n.2683C>A n.2656C>A | |
| 3 | g.48588373_48588377dup | CA2586972289 | COL7A1 | c.2616_2620dup (p.His874ArgfsTer12) c.2643_2647dup (p.His883ArgfsTer12) n.2679_2683dup n.2652_2656dup | |
| 3 | g.48588373A>C | CA433545609 | COL7A1 | c.2619T>G (p.Leu873=) c.2646T>G (p.Leu882=) n.2682T>G n.2655T>G | |
| 3 | g.48588373A>G | CA433545610 | COL7A1 | c.2619T>C (p.Leu873=) c.2646T>C (p.Leu882=) n.2682T>C n.2655T>C | |
| 3 | g.48588373A>T | CA433545611 | COL7A1 | c.2619T>A (p.Leu873=) c.2646T>A (p.Leu882=) n.2682T>A n.2655T>A | |
| 3 | g.48588374A>C | CA352717850 | COL7A1 | c.2618T>G (p.Leu873Arg) c.2645T>G (p.Leu882Arg) n.2681T>G n.2654T>G | |
| 3 | g.48588374A>G | CA352717858 | COL7A1 | c.2618T>C (p.Leu873Pro) c.2645T>C (p.Leu882Pro) n.2681T>C n.2654T>C | |
| 3 | g.48588374A>T | CA352717861 | COL7A1 | c.2618T>A (p.Leu873His) c.2645T>A (p.Leu882His) n.2681T>A n.2654T>A | |
| 3 | g.48588375G>A | CA352717868 | COL7A1 | c.2617C>T (p.Leu873Phe) c.2644C>T (p.Leu882Phe) n.2680C>T n.2653C>T | |
| 3 | g.48588375G>C | CA352717878 | COL7A1 | c.2617C>G (p.Leu873Val) c.2644C>G (p.Leu882Val) n.2680C>G n.2653C>G | |
| 3 | g.48588375G>T | CA352717885 | COL7A1 | c.2617C>A (p.Leu873Ile) c.2644C>A (p.Leu882Ile) n.2680C>A n.2653C>A | |
| 3 | g.48588376C>A | CA433545613 | COL7A1 | c.2616G>T (p.Thr872=) c.2643G>T (p.Thr881=) n.2679G>T n.2652G>T | dbSNP gnomAD v2 |
| 3 | g.48588376C= | CA1363089633 | COL7A1 | c.2616G= (p.Thr872=) c.2643G= (p.Thr881=) n.2679G= n.2652G= | |
| 3 | g.48588376C>G | CA433545614 | COL7A1 | c.2616G>C (p.Thr872=) c.2643G>C (p.Thr881=) n.2679G>C n.2652G>C | |
| 3 | g.48588376C>T | CA433545612 | COL7A1 | c.2616G>A (p.Thr872=) c.2643G>A (p.Thr881=) n.2679G>A n.2652G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48588377G>A | CA2380814 | COL7A1 | c.2615C>T (p.Thr872Met) c.2642C>T (p.Thr881Met) n.2678C>T n.2651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48588377G>C | CA352717899 | COL7A1 | c.2615C>G (p.Thr872Arg) c.2642C>G (p.Thr881Arg) n.2678C>G n.2651C>G | gnomAD v4 |
| 3 | g.48588377G= | CA1363089635 | COL7A1 | c.2615C= (p.Thr872=) c.2642C= (p.Thr881=) n.2678C= n.2651C= | |
| 3 | g.48588377G>T | CA352717896 | COL7A1 | c.2615C>A (p.Thr872Lys) c.2642C>A (p.Thr881Lys) n.2678C>A n.2651C>A | gnomAD v4 |
| 3 | g.48588378del | CA2665624433 | COL7A1 | c.2614del (p.Thr872ArgfsTer12) c.2641del (p.Thr881ArgfsTer12) n.2677del n.2650del | gnomAD v4 |
| 3 | g.48588378T>A | CA352717900 | COL7A1 | c.2614A>T (p.Thr872Ser) c.2641A>T (p.Thr881Ser) n.2677A>T n.2650A>T | gnomAD v4 |
| 3 | g.48588378T>C | CA352717901 | COL7A1 | c.2614A>G (p.Thr872Ala) c.2641A>G (p.Thr881Ala) n.2677A>G n.2650A>G | |
| 3 | g.48588378T>G | CA352717904 | COL7A1 | c.2614A>C (p.Thr872Pro) c.2641A>C (p.Thr881Pro) n.2677A>C n.2650A>C | |
| 3 | g.48588379C>A | CA433545618 | COL7A1 | c.2613G>T (p.Gly871=) c.2640G>T (p.Gly880=) n.2676G>T n.2649G>T | dbSNP gnomAD v4 |
| 3 | g.48588379C= | CA1363089637 | COL7A1 | c.2613G= (p.Gly871=) c.2640G= (p.Gly880=) n.2676G= n.2649G= | |
| 3 | g.48588379C>G | CA433545619 | COL7A1 | c.2613G>C (p.Gly871=) c.2640G>C (p.Gly880=) n.2676G>C n.2649G>C | |
| 3 | g.48588379C>T | CA433545620 | COL7A1 | c.2613G>A (p.Gly871=) c.2640G>A (p.Gly880=) n.2676G>A n.2649G>A | |
| 3 | g.48588380C>A | CA352717910 | COL7A1 | c.2612G>T (p.Gly871Val) c.2639G>T (p.Gly880Val) n.2675G>T n.2648G>T | |
| 3 | g.48588380C>G | CA352717913 | COL7A1 | c.2612G>C (p.Gly871Ala) c.2639G>C (p.Gly880Ala) n.2675G>C n.2648G>C | |
| 3 | g.48588380C>T | CA352717924 | COL7A1 | c.2612G>A (p.Gly871Glu) c.2639G>A (p.Gly880Glu) n.2675G>A n.2648G>A | |
| 3 | g.48588381C>A | CA352717939 | COL7A1 | c.2611G>T (p.Gly871Trp) c.2638G>T (p.Gly880Trp) n.2674G>T n.2647G>T | |
| 3 | g.48588381C= | CA1363089639 | COL7A1 | c.2611G= (p.Gly871=) c.2638G= (p.Gly880=) n.2674G= n.2647G= | |
| 3 | g.48588381C>G | CA352717929 | COL7A1 | c.2611G>C (p.Gly871Arg) c.2638G>C (p.Gly880Arg) n.2674G>C n.2647G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48588381C>T | CA352717938 | COL7A1 | c.2611G>A (p.Gly871Arg) c.2638G>A (p.Gly880Arg) n.2674G>A n.2647G>A | dbSNP gnomAD v2 COSMIC |
| 3 | g.48588382C>A | CA433545623 | COL7A1 | c.2610G>T (p.Leu870=) c.2637G>T (p.Leu879=) n.2673G>T n.2646G>T | |
| 3 | g.48588382C>G | CA433545624 | COL7A1 | c.2610G>C (p.Leu870=) c.2637G>C (p.Leu879=) n.2673G>C n.2646G>C | |
| 3 | g.48588382C>T | CA433545625 | COL7A1 | c.2610G>A (p.Leu870=) c.2637G>A (p.Leu879=) n.2673G>A n.2646G>A | |
| 3 | g.48588383A>C | CA352717943 | COL7A1 | c.2609T>G (p.Leu870Arg) c.2636T>G (p.Leu879Arg) n.2672T>G n.2645T>G | |
| 3 | g.48588383A>G | CA352717944 | COL7A1 | c.2609T>C (p.Leu870Pro) c.2636T>C (p.Leu879Pro) n.2672T>C n.2645T>C | |
| 3 | g.48588383A>T | CA352717949 | COL7A1 | c.2609T>A (p.Leu870Gln) c.2636T>A (p.Leu879Gln) n.2672T>A n.2645T>A | |
| 3 | g.48588383_48588385delinsAGG | CA1363089641 | COL7A1 | c.2607_2609delinsCCT (p.Ala869=) c.2634_2636delinsCCT (p.Ala878=) n.2670_2672delinsCCT n.2643_2645delinsCCT | |
| 3 | g.48588384G>A | CA433545628 | COL7A1 | c.2608C>T (p.Leu870=) c.2635C>T (p.Leu879=) n.2671C>T n.2644C>T | |
| 3 | g.48588384G>C | CA352717958 | COL7A1 | c.2608C>G (p.Leu870Val) c.2635C>G (p.Leu879Val) n.2671C>G n.2644C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48588384G= | CA1363089645 | COL7A1 | c.2608C= (p.Leu870=) c.2635C= (p.Leu879=) n.2671C= n.2644C= | |
| 3 | g.48588384G>T | CA352717962 | COL7A1 | c.2608C>A (p.Leu870Met) c.2635C>A (p.Leu879Met) n.2671C>A n.2644C>A | gnomAD v4 |
| 3 | g.48588385_48588386del | CA645294027 | COL7A1 | c.2607_2608del (p.Leu870GlyfsTer?) c.2634_2635del (p.Leu879GlyfsTer?) n.2670_2671del n.2643_2644del | ClinVar dbSNP |
| 3 | g.48588385G>A | CA73987206 | COL7A1 | c.2607C>T (p.Ala869=) c.2634C>T (p.Ala878=) n.2670C>T n.2643C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48588385G>C | CA433545630 | COL7A1 | c.2607C>G (p.Ala869=) c.2634C>G (p.Ala878=) n.2670C>G n.2643C>G | |
| 3 | g.48588385G= | CA1363089648 | COL7A1 | c.2607C= (p.Ala869=) c.2634C= (p.Ala878=) n.2670C= n.2643C= | |
| 3 | g.48588385G>T | CA433545631 | COL7A1 | c.2607C>A (p.Ala869=) c.2634C>A (p.Ala878=) n.2670C>A n.2643C>A |