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 |
|---|---|---|---|---|---|
| 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.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) | |
| 2 | g.189003992G>A | CA349843708 | COL3A1 | c.2573G>A (p.Gly858Glu) c.2672G>A (p.Gly891Glu) c.2527+956G>A (n.2527+956G>A) | ClinVar dbSNP |
| 2 | g.189003992G>C | CA349843703 | COL3A1 | c.2573G>C (p.Gly858Ala) c.2672G>C (p.Gly891Ala) c.2527+956G>C (n.2527+956G>C) | |
| 2 | g.189003992G= | CA1315403015 | COL3A1 | c.2573G= (p.Gly858=) c.2672G= (p.Gly891=) c.2527+956G= (n.2527+956G=) | |
| 2 | g.189003992G>T | CA349843706 | COL3A1 | c.2573G>T (p.Gly858Val) c.2672G>T (p.Gly891Val) c.2527+956G>T (n.2527+956G>T) | |
| 2 | g.189003993A>C | CA430311849 | COL3A1 | c.2574A>C (p.Gly858=) c.2673A>C (p.Gly891=) c.2527+957A>C (n.2527+957A>C) | |
| 2 | g.189003993A>G | CA430311850 | COL3A1 | c.2574A>G (p.Gly858=) c.2673A>G (p.Gly891=) c.2527+957A>G (n.2527+957A>G) | |
| 2 | g.189003993A>T | CA430311851 | COL3A1 | c.2574A>T (p.Gly858=) c.2673A>T (p.Gly891=) c.2527+957A>T (n.2527+957A>T) | |
| 2 | g.189003994C>A | CA349843710 | COL3A1 | c.2575C>A (p.Pro859Thr) c.2674C>A (p.Pro892Thr) c.2527+958C>A (n.2527+958C>A) | |
| 2 | g.189003994C>G | CA349843712 | COL3A1 | c.2575C>G (p.Pro859Ala) c.2674C>G (p.Pro892Ala) c.2527+958C>G (n.2527+958C>G) | |
| 2 | g.189003994C>T | CA349843714 | COL3A1 | c.2575C>T (p.Pro859Ser) c.2674C>T (p.Pro892Ser) c.2527+958C>T (n.2527+958C>T) | COSMIC |
| 2 | g.189003995C>A | CA349843717 | COL3A1 | c.2576C>A (p.Pro859His) c.2675C>A (p.Pro892His) c.2527+959C>A (n.2527+959C>A) | gnomAD v4 |
| 2 | g.189003995C= | CA1315403016 | COL3A1 | c.2576C= (p.Pro859=) c.2675C= (p.Pro892=) c.2527+959C= (n.2527+959C=) | |
| 2 | g.189003995C>G | CA349843718 | COL3A1 | c.2576C>G (p.Pro859Arg) c.2675C>G (p.Pro892Arg) c.2527+959C>G (n.2527+959C>G) | |
| 2 | g.189003995C>T | CA349843720 | COL3A1 | c.2576C>T (p.Pro859Leu) c.2675C>T (p.Pro892Leu) c.2527+959C>T (n.2527+959C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.189003996C>A | CA430311857 | COL3A1 | c.2577C>A (p.Pro859=) c.2676C>A (p.Pro892=) c.2527+960C>A (n.2527+960C>A) | |
| 2 | g.189003996C>G | CA430311858 | COL3A1 | c.2577C>G (p.Pro859=) c.2676C>G (p.Pro892=) c.2527+960C>G (n.2527+960C>G) | |
| 2 | g.189003996C>T | CA430311859 | COL3A1 | c.2577C>T (p.Pro859=) c.2676C>T (p.Pro892=) c.2527+960C>T (n.2527+960C>T) | |
| 2 | g.189003997C>A | CA349843723 | COL3A1 | c.2578C>A (p.Pro860Thr) c.2677C>A (p.Pro893Thr) c.2527+961C>A (n.2527+961C>A) | |
| 2 | g.189003997C>G | CA349843724 | COL3A1 | c.2578C>G (p.Pro860Ala) c.2677C>G (p.Pro893Ala) c.2527+961C>G (n.2527+961C>G) | |
| 2 | g.189003997C>T | CA349843725 | COL3A1 | c.2578C>T (p.Pro860Ser) c.2677C>T (p.Pro893Ser) c.2527+961C>T (n.2527+961C>T) | gnomAD v4 |
| 2 | g.189003998C>A | CA349843728 | COL3A1 | c.2579C>A (p.Pro860Gln) c.2678C>A (p.Pro893Gln) c.2527+962C>A (n.2527+962C>A) | |
| 2 | g.189003998C= | CA1315403017 | COL3A1 | c.2579C= (p.Pro860=) c.2678C= (p.Pro893=) c.2527+962C= (n.2527+962C=) | |
| 2 | g.189003998C>G | CA349843730 | COL3A1 | c.2579C>G (p.Pro860Arg) c.2678C>G (p.Pro893Arg) c.2527+962C>G (n.2527+962C>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189003998C>T | CA349843732 | COL3A1 | c.2579C>T (p.Pro860Leu) c.2678C>T (p.Pro893Leu) c.2527+962C>T (n.2527+962C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189003999A>C | CA430311863 | COL3A1 | c.2580A>C (p.Pro860=) c.2679A>C (p.Pro893=) c.2527+963A>C (n.2527+963A>C) | |
| 2 | g.189003999A>G | CA430311865 | COL3A1 | c.2580A>G (p.Pro860=) c.2679A>G (p.Pro893=) c.2527+963A>G (n.2527+963A>G) | |
| 2 | g.189003999A>T | CA430311866 | COL3A1 | c.2580A>T (p.Pro860=) c.2679A>T (p.Pro893=) c.2527+963A>T (n.2527+963A>T) | |
| 2 | g.189004000G>A | CA349843735 | COL3A1 | c.2581G>A (p.Gly861Ser) c.2680G>A (p.Gly894Ser) c.2527+964G>A (n.2527+964G>A) | |
| 2 | g.189004000G>C | CA349843737 | COL3A1 | c.2581G>C (p.Gly861Arg) c.2680G>C (p.Gly894Arg) c.2527+964G>C (n.2527+964G>C) | |
| 2 | g.189004000G>T | CA349843736 | COL3A1 | c.2581G>T (p.Gly861Cys) c.2680G>T (p.Gly894Cys) c.2527+964G>T (n.2527+964G>T) | |
| 2 | g.189004001G>A | CA349843740 | COL3A1 | c.2582G>A (p.Gly861Asp) c.2681G>A (p.Gly894Asp) c.2527+965G>A (n.2527+965G>A) | |
| 2 | g.189004001G>C | CA005598 | COL3A1 | c.2582G>C (p.Gly861Ala) c.2681G>C (p.Gly894Ala) c.2527+965G>C (n.2527+965G>C) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.189004001G= | CA1315403018 | COL3A1 | c.2582G= (p.Gly861=) c.2681G= (p.Gly894=) c.2527+965G= (n.2527+965G=) | |
| 2 | g.189004001G>T | CA349843742 | COL3A1 | c.2582G>T (p.Gly861Val) c.2681G>T (p.Gly894Val) c.2527+965G>T (n.2527+965G>T) | |
| 2 | g.189004002T>A | CA430311868 | COL3A1 | c.2583T>A (p.Gly861=) c.2682T>A (p.Gly894=) c.2527+966T>A (n.2527+966T>A) | |
| 2 | g.189004002T>C | CA430311869 | COL3A1 | c.2583T>C (p.Gly861=) c.2682T>C (p.Gly894=) c.2527+966T>C (n.2527+966T>C) | gnomAD v4 |
| 2 | g.189004002T>G | CA430311870 | COL3A1 | c.2583T>G (p.Gly861=) c.2682T>G (p.Gly894=) c.2527+966T>G (n.2527+966T>G) | |
| 2 | g.189004003C>A | CA349843746 | COL3A1 | c.2584C>A (p.Pro862Thr) c.2683C>A (p.Pro895Thr) c.2527+967C>A (n.2527+967C>A) | |
| 2 | g.189004003C>G | CA349843748 | COL3A1 | c.2584C>G (p.Pro862Ala) c.2683C>G (p.Pro895Ala) c.2527+967C>G (n.2527+967C>G) | |
| 2 | g.189004003C>T | CA349843750 | COL3A1 | c.2584C>T (p.Pro862Ser) c.2683C>T (p.Pro895Ser) c.2527+967C>T (n.2527+967C>T) | |
| 2 | g.189004005del | CA2662310064 | COL3A1 | c.2586del (p.Ser863AlafsTer?) c.2685del (p.Ser896AlafsTer?) c.2527+969del (n.2527+969del) | gnomAD v4 |
| 2 | g.189004004C>A | CA349843753 | COL3A1 | c.2585C>A (p.Pro862His) c.2684C>A (p.Pro895His) c.2527+968C>A (n.2527+968C>A) | |
| 2 | g.189004004C= | CA1315403019 | COL3A1 | c.2585C= (p.Pro862=) c.2684C= (p.Pro895=) c.2527+968C= (n.2527+968C=) | |
| 2 | g.189004004C>G | CA349843755 | COL3A1 | c.2585C>G (p.Pro862Arg) c.2684C>G (p.Pro895Arg) c.2527+968C>G (n.2527+968C>G) | |
| 2 | g.189004004C>T | CA349843757 | COL3A1 | c.2585C>T (p.Pro862Leu) c.2684C>T (p.Pro895Leu) c.2527+968C>T (n.2527+968C>T) | dbSNP gnomAD v2 |
| 2 | g.189004005C>A | CA430311872 | COL3A1 | c.2586C>A (p.Pro862=) c.2685C>A (p.Pro895=) c.2527+969C>A (n.2527+969C>A) | |
| 2 | g.189004005C>G | CA430311873 | COL3A1 | c.2586C>G (p.Pro862=) c.2685C>G (p.Pro895=) c.2527+969C>G (n.2527+969C>G) | |
| 2 | g.189004005C>T | CA430311874 | COL3A1 | c.2586C>T (p.Pro862=) c.2685C>T (p.Pro895=) c.2527+969C>T (n.2527+969C>T) | ClinVar gnomAD v4 |
| 2 | g.189004006A>C | CA349843760 | COL3A1 | c.2587A>C (p.Ser863Arg) c.2686A>C (p.Ser896Arg) c.2527+970A>C (n.2527+970A>C) | |
| 2 | g.189004006A>G | CA349843761 | COL3A1 | c.2587A>G (p.Ser863Gly) c.2686A>G (p.Ser896Gly) c.2527+970A>G (n.2527+970A>G) | |
| 2 | g.189004006A>T | CA349843762 | COL3A1 | c.2587A>T (p.Ser863Cys) c.2686A>T (p.Ser896Cys) c.2527+970A>T (n.2527+970A>T) | |
| 2 | g.189004007G>A | CA349843766 | COL3A1 | c.2588G>A (p.Ser863Asn) c.2687G>A (p.Ser896Asn) c.2527+971G>A (n.2527+971G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004007G>C | CA349843768 | COL3A1 | c.2588G>C (p.Ser863Thr) c.2687G>C (p.Ser896Thr) c.2527+971G>C (n.2527+971G>C) | |
| 2 | g.189004007G= | CA1315403020 | COL3A1 | c.2588G= (p.Ser863=) c.2687G= (p.Ser896=) c.2527+971G= (n.2527+971G=) | |
| 2 | g.189004007G>T | CA349843769 | COL3A1 | c.2588G>T (p.Ser863Ile) c.2687G>T (p.Ser896Ile) c.2527+971G>T (n.2527+971G>T) | |
| 2 | g.189004008C>A | CA349843773 | COL3A1 | c.2589C>A (p.Ser863Arg) c.2688C>A (p.Ser896Arg) c.2527+972C>A (n.2527+972C>A) | dbSNP COSMIC |
| 2 | g.189004008C= | CA1315403021 | COL3A1 | c.2589C= (p.Ser863=) c.2688C= (p.Ser896=) c.2527+972C= (n.2527+972C=) | |
| 2 | g.189004008C>G | CA349843776 | COL3A1 | c.2589C>G (p.Ser863Arg) c.2688C>G (p.Ser896Arg) c.2527+972C>G (n.2527+972C>G) | COSMIC |
| 2 | g.189004008C>T | CA62557291 | COL3A1 | c.2589C>T (p.Ser863=) c.2688C>T (p.Ser896=) c.2527+972C>T (n.2527+972C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004009G>A | CA005604 | COL3A1 | c.2590G>A (p.Gly864Ser) c.2689G>A (p.Gly897Ser) c.2527+973G>A (n.2527+973G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004009G>C | CA349843780 | COL3A1 | c.2590G>C (p.Gly864Arg) c.2689G>C (p.Gly897Arg) c.2527+973G>C (n.2527+973G>C) | |
| 2 | g.189004009G= | CA1315403022 | COL3A1 | c.2590G= (p.Gly864=) c.2689G= (p.Gly897=) c.2527+973G= (n.2527+973G=) | |
| 2 | g.189004009G>T | CA349843781 | COL3A1 | c.2590G>T (p.Gly864Cys) c.2689G>T (p.Gly897Cys) c.2527+973G>T (n.2527+973G>T) | |
| 2 | g.189004010G>A | CA349843784 | COL3A1 | c.2591G>A (p.Gly864Asp) c.2690G>A (p.Gly897Asp) c.2527+974G>A (n.2527+974G>A) | ClinVar dbSNP |
| 2 | g.189004010G>C | CA349843785 | COL3A1 | c.2591G>C (p.Gly864Ala) c.2690G>C (p.Gly897Ala) c.2527+974G>C (n.2527+974G>C) | gnomAD v4 |
| 2 | g.189004010G= | CA1315403023 | COL3A1 | c.2591G= (p.Gly864=) c.2690G= (p.Gly897=) c.2527+974G= (n.2527+974G=) | |
| 2 | g.189004010G>T | CA349843787 | COL3A1 | c.2591G>T (p.Gly864Val) c.2690G>T (p.Gly897Val) c.2527+974G>T (n.2527+974G>T) | |
| 2 | g.189004011T>A | CA430311880 | COL3A1 | c.2592T>A (p.Gly864=) c.2691T>A (p.Gly897=) c.2527+975T>A (n.2527+975T>A) | |
| 2 | g.189004011T>C | CA430311878 | COL3A1 | c.2592T>C (p.Gly864=) c.2691T>C (p.Gly897=) c.2527+975T>C (n.2527+975T>C) | |
| 2 | g.189004011T>G | CA430311877 | COL3A1 | c.2592T>G (p.Gly864=) c.2691T>G (p.Gly897=) c.2527+975T>G (n.2527+975T>G) | |
| 2 | g.189004012T>A | CA349843790 | COL3A1 | c.2593T>A (p.Ser865Thr) c.2692T>A (p.Ser898Thr) c.2527+976T>A (n.2527+976T>A) | |
| 2 | g.189004012T>C | CA349843792 | COL3A1 | c.2593T>C (p.Ser865Pro) c.2692T>C (p.Ser898Pro) c.2527+976T>C (n.2527+976T>C) | gnomAD v4 |
| 2 | g.189004012T>G | CA349843794 | COL3A1 | c.2593T>G (p.Ser865Ala) c.2692T>G (p.Ser898Ala) c.2527+976T>G (n.2527+976T>G) | |
| 2 | g.189004013C>A | CA349843797 | COL3A1 | c.2594C>A (p.Ser865Tyr) c.2693C>A (p.Ser898Tyr) c.2527+977C>A (n.2527+977C>A) | |
| 2 | g.189004013C>G | CA349843798 | COL3A1 | c.2594C>G (p.Ser865Cys) c.2693C>G (p.Ser898Cys) c.2527+977C>G (n.2527+977C>G) | |
| 2 | g.189004013C>T | CA349843796 | COL3A1 | c.2594C>T (p.Ser865Phe) c.2693C>T (p.Ser898Phe) c.2527+977C>T (n.2527+977C>T) | |
| 2 | g.189004014T>A | CA430311882 | COL3A1 | c.2595T>A (p.Ser865=) c.2694T>A (p.Ser898=) c.2527+978T>A (n.2527+978T>A) | |
| 2 | g.189004014T>C | CA430311883 | COL3A1 | c.2595T>C (p.Ser865=) c.2694T>C (p.Ser898=) c.2527+978T>C (n.2527+978T>C) | gnomAD v4 |
| 2 | g.189004014T>G | CA430311885 | COL3A1 | c.2595T>G (p.Ser865=) c.2694T>G (p.Ser898=) c.2527+978T>G (n.2527+978T>G) | |
| 2 | g.189004015C>A | CA349843800 | COL3A1 | c.2596C>A (p.Pro866Thr) c.2695C>A (p.Pro899Thr) c.2527+979C>A (n.2527+979C>A) | |
| 2 | g.189004015C>G | CA349843802 | COL3A1 | c.2596C>G (p.Pro866Ala) c.2695C>G (p.Pro899Ala) c.2527+979C>G (n.2527+979C>G) | |
| 2 | g.189004015C>T | CA349843804 | COL3A1 | c.2596C>T (p.Pro866Ser) c.2695C>T (p.Pro899Ser) c.2527+979C>T (n.2527+979C>T) | |
| 2 | g.189004016C>A | CA349843805 | COL3A1 | c.2597C>A (p.Pro866Gln) c.2696C>A (p.Pro899Gln) c.2527+980C>A (n.2527+980C>A) | |
| 2 | g.189004016C>G | CA349843807 | COL3A1 | c.2597C>G (p.Pro866Arg) c.2696C>G (p.Pro899Arg) c.2527+980C>G (n.2527+980C>G) | |
| 2 | g.189004016C>T | CA349843809 | COL3A1 | c.2597C>T (p.Pro866Leu) c.2696C>T (p.Pro899Leu) c.2527+980C>T (n.2527+980C>T) | gnomAD v4 |
| 2 | g.189004017A>C | CA430311887 | COL3A1 | c.2598A>C (p.Pro866=) c.2697A>C (p.Pro899=) c.2527+981A>C (n.2527+981A>C) | |
| 2 | g.189004017A>G | CA430311888 | COL3A1 | c.2598A>G (p.Pro866=) c.2697A>G (p.Pro899=) c.2527+981A>G (n.2527+981A>G) | |
| 2 | g.189004017A>T | CA430311889 | COL3A1 | c.2598A>T (p.Pro866=) c.2697A>T (p.Pro899=) c.2527+981A>T (n.2527+981A>T) | |
| 2 | g.189004018G>A | CA349843812 | COL3A1 | c.2599G>A (p.Gly867Ser) c.2698G>A (p.Gly900Ser) c.2527+982G>A (n.2527+982G>A) | |
| 2 | g.189004018G>C | CA349843814 | COL3A1 | c.2599G>C (p.Gly867Arg) c.2698G>C (p.Gly900Arg) c.2527+982G>C (n.2527+982G>C) | |
| 2 | g.189004018G>T | CA349843815 | COL3A1 | c.2599G>T (p.Gly867Cys) c.2698G>T (p.Gly900Cys) c.2527+982G>T (n.2527+982G>T) | |
| 2 | g.189004019G>A | CA005611 | COL3A1 | c.2600G>A (p.Gly867Asp) c.2699G>A (p.Gly900Asp) c.2527+983G>A (n.2527+983G>A) | ClinVar dbSNP |
| 2 | g.189004019G>C | CA349843819 | COL3A1 | c.2600G>C (p.Gly867Ala) c.2699G>C (p.Gly900Ala) c.2527+983G>C (n.2527+983G>C) | gnomAD v4 |
| 2 | g.189004019G= | CA1315403024 | COL3A1 | c.2600G= (p.Gly867=) c.2699G= (p.Gly900=) c.2527+983G= (n.2527+983G=) | |
| 2 | g.189004019G>T | CA349843821 | COL3A1 | c.2600G>T (p.Gly867Val) c.2699G>T (p.Gly900Val) c.2527+983G>T (n.2527+983G>T) | |
| 2 | g.189004020C>A | CA430311894 | COL3A1 | c.2601C>A (p.Gly867=) c.2700C>A (p.Gly900=) c.2527+984C>A (n.2527+984C>A) | |
| 2 | g.189004020C= | CA1315403025 | COL3A1 | c.2601C= (p.Gly867=) c.2700C= (p.Gly900=) c.2527+984C= (n.2527+984C=) | |
| 2 | g.189004020C>G | CA430311896 | COL3A1 | c.2601C>G (p.Gly867=) c.2700C>G (p.Gly900=) c.2527+984C>G (n.2527+984C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004020C>T | CA005619 | COL3A1 | c.2601C>T (p.Gly867=) c.2700C>T (p.Gly900=) c.2527+984C>T (n.2527+984C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004021A>C | CA349843828 | COL3A1 | c.2602A>C (p.Lys868Gln) c.2701A>C (p.Lys901Gln) c.2527+985A>C (n.2527+985A>C) | |
| 2 | g.189004021A>G | CA349843826 | COL3A1 | c.2602A>G (p.Lys868Glu) c.2701A>G (p.Lys901Glu) c.2527+985A>G (n.2527+985A>G) | |
| 2 | g.189004021A>T | CA349843824 | COL3A1 | c.2602A>T (p.Lys868Ter) c.2701A>T (p.Lys901Ter) c.2527+985A>T (n.2527+985A>T) | |
| 2 | g.189004022A= | CA1315403026 | COL3A1 | c.2603A= (p.Lys868=) c.2702A= (p.Lys901=) c.2527+986A= (n.2527+986A=) | |
| 2 | g.189004022A>C | CA349843831 | COL3A1 | c.2603A>C (p.Lys868Thr) c.2702A>C (p.Lys901Thr) c.2527+986A>C (n.2527+986A>C) | |
| 2 | g.189004022A>G | CA62557344 | COL3A1 | c.2603A>G (p.Lys868Arg) c.2702A>G (p.Lys901Arg) c.2527+986A>G (n.2527+986A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004022A>T | CA349843834 | COL3A1 | c.2603A>T (p.Lys868Met) c.2702A>T (p.Lys901Met) c.2527+986A>T (n.2527+986A>T) | COSMIC |
| 2 | g.189004023G>A | CA430311903 | COL3A1 | c.2604G>A (p.Lys868=) c.2703G>A (p.Lys901=) c.2527+987G>A (n.2527+987G>A) | COSMIC |
| 2 | g.189004023G>C | CA349843837 | COL3A1 | c.2604G>C (p.Lys868Asn) c.2703G>C (p.Lys901Asn) c.2527+987G>C (n.2527+987G>C) | |
| 2 | g.189004023G>T | CA349843838 | COL3A1 | c.2604G>T (p.Lys868Asn) c.2703G>T (p.Lys901Asn) c.2527+987G>T (n.2527+987G>T) | |
| 2 | g.189004024G>A | CA349843841 | COL3A1 | c.2605G>A (p.Asp869Asn) c.2704G>A (p.Asp902Asn) c.2527+988G>A (n.2527+988G>A) | |
| 2 | g.189004024G>C | CA349843843 | COL3A1 | c.2605G>C (p.Asp869His) c.2704G>C (p.Asp902His) c.2527+988G>C (n.2527+988G>C) | gnomAD v4 |
| 2 | g.189004024G>T | CA349843844 | COL3A1 | c.2605G>T (p.Asp869Tyr) c.2704G>T (p.Asp902Tyr) c.2527+988G>T (n.2527+988G>T) | |
| 2 | g.189004025A>C | CA349843848 | COL3A1 | c.2606A>C (p.Asp869Ala) c.2705A>C (p.Asp902Ala) c.2527+989A>C (n.2527+989A>C) | |
| 2 | g.189004025A>G | CA349843849 | COL3A1 | c.2606A>G (p.Asp869Gly) c.2705A>G (p.Asp902Gly) c.2527+989A>G (n.2527+989A>G) | |
| 2 | g.189004025A>T | CA349843852 | COL3A1 | c.2606A>T (p.Asp869Val) c.2705A>T (p.Asp902Val) c.2527+989A>T (n.2527+989A>T) | |
| 2 | g.189004026T>A | CA349843854 | COL3A1 | c.2607T>A (p.Asp869Glu) c.2706T>A (p.Asp902Glu) c.2527+990T>A (n.2527+990T>A) | |
| 2 | g.189004026T>C | CA430311905 | COL3A1 | c.2607T>C (p.Asp869=) c.2706T>C (p.Asp902=) c.2527+990T>C (n.2527+990T>C) | |
| 2 | g.189004026T>G | CA349843856 | COL3A1 | c.2607T>G (p.Asp869Glu) c.2706T>G (p.Asp902Glu) c.2527+990T>G (n.2527+990T>G) | |
| 2 | g.189004027G>A | CA349843861 | COL3A1 | c.2608G>A (p.Gly870Arg) c.2707G>A (p.Gly903Arg) c.2527+991G>A (n.2527+991G>A) | |
| 2 | g.189004027G>C | CA349843863 | COL3A1 | c.2608G>C (p.Gly870Arg) c.2707G>C (p.Gly903Arg) c.2527+991G>C (n.2527+991G>C) | |
| 2 | g.189004027G>T | CA349843859 | COL3A1 | c.2608G>T (p.Gly870Trp) c.2707G>T (p.Gly903Trp) c.2527+991G>T (n.2527+991G>T) | |
| 2 | g.189004028G>A | CA005626 | COL3A1 | c.2609G>A (p.Gly870Glu) c.2708G>A (p.Gly903Glu) c.2527+992G>A (n.2527+992G>A) | ClinVar dbSNP |
| 2 | g.189004028G>C | CA349843865 | COL3A1 | c.2609G>C (p.Gly870Ala) c.2708G>C (p.Gly903Ala) c.2527+992G>C (n.2527+992G>C) | |
| 2 | g.189004028G= | CA1315403027 | COL3A1 | c.2609G= (p.Gly870=) c.2708G= (p.Gly903=) c.2527+992G= (n.2527+992G=) | |
| 2 | g.189004028G>T | CA349843868 | COL3A1 | c.2609G>T (p.Gly870Val) c.2708G>T (p.Gly903Val) c.2527+992G>T (n.2527+992G>T) | |
| 2 | g.189004029G>A | CA16603973 | COL3A1 | c.2610G>A (p.Gly870=) c.2709G>A (p.Gly903=) c.2527+993G>A (n.2527+993G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004029G>C | CA430311910 | COL3A1 | c.2610G>C (p.Gly870=) c.2709G>C (p.Gly903=) c.2527+993G>C (n.2527+993G>C) | |
| 2 | g.189004029G= | CA1315403028 | COL3A1 | c.2610G= (p.Gly870=) c.2709G= (p.Gly903=) c.2527+993G= (n.2527+993G=) | |
| 2 | g.189004029G>T | CA430311911 | COL3A1 | c.2610G>T (p.Gly870=) c.2709G>T (p.Gly903=) c.2527+993G>T (n.2527+993G>T) | gnomAD v4 |
| 2 | g.189004030C>A | CA62557346 | COL3A1 | c.2611C>A (p.Pro871Thr) c.2710C>A (p.Pro904Thr) c.2527+994C>A (n.2527+994C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004030C= | CA1315403029 | COL3A1 | c.2611C= (p.Pro871=) c.2710C= (p.Pro904=) c.2527+994C= (n.2527+994C=) | |
| 2 | g.189004030C>G | CA349843873 | COL3A1 | c.2611C>G (p.Pro871Ala) c.2710C>G (p.Pro904Ala) c.2527+994C>G (n.2527+994C>G) | |
| 2 | g.189004030C>T | CA349843874 | COL3A1 | c.2611C>T (p.Pro871Ser) c.2710C>T (p.Pro904Ser) c.2527+994C>T (n.2527+994C>T) | |
| 2 | g.189004034dup | CA430311919 | COL3A1 | c.2615dup (p.Gly873ArgfsTer5) c.2714dup (p.Gly906ArgfsTer5) c.2527+998dup (n.2527+998dup) | COSMIC |
| 2 | g.189004031C>A | CA349843878 | COL3A1 | c.2612C>A (p.Pro871His) c.2711C>A (p.Pro904His) c.2527+995C>A (n.2527+995C>A) | |
| 2 | g.189004031C>G | CA349843879 | COL3A1 | c.2612C>G (p.Pro871Arg) c.2711C>G (p.Pro904Arg) c.2527+995C>G (n.2527+995C>G) | |
| 2 | g.189004031C>T | CA349843881 | COL3A1 | c.2612C>T (p.Pro871Leu) c.2711C>T (p.Pro904Leu) c.2527+995C>T (n.2527+995C>T) | ClinVar gnomAD v4 |
| 2 | g.189004032C>A | CA430311921 | COL3A1 | c.2613C>A (p.Pro871=) c.2712C>A (p.Pro904=) c.2527+996C>A (n.2527+996C>A) | |
| 2 | g.189004032C= | CA1315403030 | COL3A1 | c.2613C= (p.Pro871=) c.2712C= (p.Pro904=) c.2527+996C= (n.2527+996C=) | |
| 2 | g.189004032C>G | CA430311920 | COL3A1 | c.2613C>G (p.Pro871=) c.2712C>G (p.Pro904=) c.2527+996C>G (n.2527+996C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004032C>T | CA075550 | COL3A1 | c.2613C>T (p.Pro871=) c.2712C>T (p.Pro904=) c.2527+996C>T (n.2527+996C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004033C>A | CA349843884 | COL3A1 | c.2614C>A (p.Pro872Thr) c.2713C>A (p.Pro905Thr) c.2527+997C>A (n.2527+997C>A) | |
| 2 | g.189004033C= | CA1315403031 | COL3A1 | c.2614C= (p.Pro872=) c.2713C= (p.Pro905=) c.2527+997C= (n.2527+997C=) | |
| 2 | g.189004033C>G | CA62557352 | COL3A1 | c.2614C>G (p.Pro872Ala) c.2713C>G (p.Pro905Ala) c.2527+997C>G (n.2527+997C>G) | dbSNP |
| 2 | g.189004033C>T | CA349843887 | COL3A1 | c.2614C>T (p.Pro872Ser) c.2713C>T (p.Pro905Ser) c.2527+997C>T (n.2527+997C>T) | ClinVar dbSNP COSMIC |
| 2 | g.189004034C>A | CA349843888 | COL3A1 | c.2615C>A (p.Pro872Gln) c.2714C>A (p.Pro905Gln) c.2527+998C>A (n.2527+998C>A) | |
| 2 | g.189004034C= | CA1315403032 | COL3A1 | c.2615C= (p.Pro872=) c.2714C= (p.Pro905=) c.2527+998C= (n.2527+998C=) | |
| 2 | g.189004034C>G | CA349843890 | COL3A1 | c.2615C>G (p.Pro872Arg) c.2714C>G (p.Pro905Arg) c.2527+998C>G (n.2527+998C>G) | |
| 2 | g.189004034C>T | CA10612164 | COL3A1 | c.2615C>T (p.Pro872Leu) c.2714C>T (p.Pro905Leu) c.2527+998C>T (n.2527+998C>T) | ClinVar dbSNP |
| 2 | g.189004035A>C | CA430311924 | COL3A1 | c.2616A>C (p.Pro872=) c.2715A>C (p.Pro905=) c.2527+999A>C (n.2527+999A>C) | |
| 2 | g.189004035A>G | CA430311925 | COL3A1 | c.2616A>G (p.Pro872=) c.2715A>G (p.Pro905=) c.2527+999A>G (n.2527+999A>G) | |
| 2 | g.189004035A>T | CA430311926 | COL3A1 | c.2616A>T (p.Pro872=) c.2715A>T (p.Pro905=) c.2527+999A>T (n.2527+999A>T) | |
| 2 | g.189004036G>A | CA349843898 | COL3A1 | c.2617G>A (p.Gly873Ser) c.2716G>A (p.Gly906Ser) c.2527+1000G>A (n.2527+1000G>A) | ClinVar dbSNP |
| 2 | g.189004036G>C | CA349843894 | COL3A1 | c.2617G>C (p.Gly873Arg) c.2716G>C (p.Gly906Arg) c.2527+1000G>C (n.2527+1000G>C) | ClinVar |
| 2 | g.189004036G= | CA1315403033 | COL3A1 | c.2617G= (p.Gly873=) c.2716G= (p.Gly906=) c.2527+1000G= (n.2527+1000G=) | |
| 2 | g.189004036G>T | CA349843896 | COL3A1 | c.2617G>T (p.Gly873Cys) c.2716G>T (p.Gly906Cys) c.2527+1000G>T (n.2527+1000G>T) | |
| 2 | g.189004037G>A | CA349843900 | COL3A1 | c.2618G>A (p.Gly873Asp) c.2717G>A (p.Gly906Asp) c.2527+1001G>A (n.2527+1001G>A) | ClinVar |
| 2 | g.189004037G>C | CA349843903 | COL3A1 | c.2618G>C (p.Gly873Ala) c.2717G>C (p.Gly906Ala) c.2527+1001G>C (n.2527+1001G>C) | |
| 2 | g.189004037G>T | CA349843905 | COL3A1 | c.2618G>T (p.Gly873Val) c.2717G>T (p.Gly906Val) c.2527+1001G>T (n.2527+1001G>T) | COSMIC |
| 2 | g.189004038T>A | CA430311928 | COL3A1 | c.2619T>A (p.Gly873=) c.2718T>A (p.Gly906=) c.2527+1002T>A (n.2527+1002T>A) | |
| 2 | g.189004038T>C | CA075553 | COL3A1 | c.2619T>C (p.Gly873=) c.2718T>C (p.Gly906=) c.2527+1002T>C (n.2527+1002T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004038T>G | CA430311929 | COL3A1 | c.2619T>G (p.Gly873=) c.2718T>G (p.Gly906=) c.2527+1002T>G (n.2527+1002T>G) | |
| 2 | g.189004038T= | CA1315403034 | COL3A1 | c.2619T= (p.Gly873=) c.2718T= (p.Gly906=) c.2527+1002T= (n.2527+1002T=) | |
| 2 | g.189004039C>A | CA349843909 | COL3A1 | c.2620C>A (p.Pro874Thr) c.2719C>A (p.Pro907Thr) c.2527+1003C>A (n.2527+1003C>A) | |
| 2 | g.189004039C>G | CA349843910 | COL3A1 | c.2620C>G (p.Pro874Ala) c.2719C>G (p.Pro907Ala) c.2527+1003C>G (n.2527+1003C>G) | |
| 2 | g.189004039C>T | CA349843912 | COL3A1 | c.2620C>T (p.Pro874Ser) c.2719C>T (p.Pro907Ser) c.2527+1003C>T (n.2527+1003C>T) | COSMIC |
| 2 | g.189004040C>A | CA349843915 | COL3A1 | c.2621C>A (p.Pro874His) c.2720C>A (p.Pro907His) c.2527+1004C>A (n.2527+1004C>A) | |
| 2 | g.189004040C= | CA1315403035 | COL3A1 | c.2621C= (p.Pro874=) c.2720C= (p.Pro907=) c.2527+1004C= (n.2527+1004C=) | |
| 2 | g.189004040C>G | CA349843917 | COL3A1 | c.2621C>G (p.Pro874Arg) c.2720C>G (p.Pro907Arg) c.2527+1004C>G (n.2527+1004C>G) | |
| 2 | g.189004040C>T | CA349843919 | COL3A1 | c.2621C>T (p.Pro874Leu) c.2720C>T (p.Pro907Leu) c.2527+1004C>T (n.2527+1004C>T) | ClinVar dbSNP |
| 2 | g.189004041T>A | CA430311936 | COL3A1 | c.2622T>A (p.Pro874=) c.2721T>A (p.Pro907=) c.2527+1005T>A (n.2527+1005T>A) | |
| 2 | g.189004041T>C | CA430311937 | COL3A1 | c.2622T>C (p.Pro874=) c.2721T>C (p.Pro907=) c.2527+1005T>C (n.2527+1005T>C) | |
| 2 | g.189004041T>G | CA430311938 | COL3A1 | c.2622T>G (p.Pro874=) c.2721T>G (p.Pro907=) c.2527+1005T>G (n.2527+1005T>G) | |
| 2 | g.189004042G>A | CA62557376 | COL3A1 | c.2623G>A (p.Ala875Thr) c.2722G>A (p.Ala908Thr) c.2527+1006G>A (n.2527+1006G>A) | dbSNP gnomAD v4 |
| 2 | g.189004042G>C | CA349843923 | COL3A1 | c.2623G>C (p.Ala875Pro) c.2722G>C (p.Ala908Pro) c.2527+1006G>C (n.2527+1006G>C) | |
| 2 | g.189004042G= | CA1315403036 | COL3A1 | c.2623G= (p.Ala875=) c.2722G= (p.Ala908=) c.2527+1006G= (n.2527+1006G=) | |
| 2 | g.189004042G>T | CA349843925 | COL3A1 | c.2623G>T (p.Ala875Ser) c.2722G>T (p.Ala908Ser) c.2527+1006G>T (n.2527+1006G>T) | |
| 2 | g.189004043C>A | CA349843928 | COL3A1 | c.2624C>A (p.Ala875Glu) c.2723C>A (p.Ala908Glu) c.2527+1007C>A (n.2527+1007C>A) | gnomAD v4 |
| 2 | g.189004043C= | CA1315403037 | COL3A1 | c.2624C= (p.Ala875=) c.2723C= (p.Ala908=) c.2527+1007C= (n.2527+1007C=) | |
| 2 | g.189004043C>G | CA075557 | COL3A1 | c.2624C>G (p.Ala875Gly) c.2723C>G (p.Ala908Gly) c.2527+1007C>G (n.2527+1007C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004043C>T | CA075559 | COL3A1 | c.2624C>T (p.Ala875Val) c.2723C>T (p.Ala908Val) c.2527+1007C>T (n.2527+1007C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189004044G>A | CA075564 | COL3A1 | c.2625G>A (p.Ala875=) c.2724G>A (p.Ala908=) c.2527+1008G>A (n.2527+1008G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004044G>C | CA430311943 | COL3A1 | c.2625G>C (p.Ala875=) c.2724G>C (p.Ala908=) c.2527+1008G>C (n.2527+1008G>C) | |
| 2 | g.189004044G= | CA1315403038 | COL3A1 | c.2625G= (p.Ala875=) c.2724G= (p.Ala908=) c.2527+1008G= (n.2527+1008G=) | |
| 2 | g.189004044G>T | CA430311944 | COL3A1 | c.2625G>T (p.Ala875=) c.2724G>T (p.Ala908=) c.2527+1008G>T (n.2527+1008G>T) | gnomAD v4 |
| 2 | g.189004046del | CA430311947 | COL3A1 | c.2627del (p.Gly876ValfsTer?) c.2726del (p.Gly909ValfsTer?) c.2527+1010del (n.2527+1010del) | COSMIC |
| 2 | g.189004045G>A | CA349843935 | COL3A1 | c.2626G>A (p.Gly876Ser) c.2725G>A (p.Gly909Ser) c.2527+1009G>A (n.2527+1009G>A) | |
| 2 | g.189004045G>C | CA349843937 | COL3A1 | c.2626G>C (p.Gly876Arg) c.2725G>C (p.Gly909Arg) c.2527+1009G>C (n.2527+1009G>C) | |
| 2 | g.189004045G>T | CA349843939 | COL3A1 | c.2626G>T (p.Gly876Cys) c.2725G>T (p.Gly909Cys) c.2527+1009G>T (n.2527+1009G>T) | |
| 2 | g.189004046G>A | CA349843941 | COL3A1 | c.2627G>A (p.Gly876Asp) c.2726G>A (p.Gly909Asp) c.2527+1010G>A (n.2527+1010G>A) | ClinVar dbSNP COSMIC |
| 2 | g.189004046G>C | CA349843943 | COL3A1 | c.2627G>C (p.Gly876Ala) c.2726G>C (p.Gly909Ala) c.2527+1010G>C (n.2527+1010G>C) | |
| 2 | g.189004046G= | CA1315403039 | COL3A1 | c.2627G= (p.Gly876=) c.2726G= (p.Gly909=) c.2527+1010G= (n.2527+1010G=) | |
| 2 | g.189004046G>T | CA005632 | COL3A1 | c.2627G>T (p.Gly876Val) c.2726G>T (p.Gly909Val) c.2527+1010G>T (n.2527+1010G>T) | ClinVar dbSNP |
| 2 | g.189004047T>A | CA430311951 | COL3A1 | c.2628T>A (p.Gly876=) c.2727T>A (p.Gly909=) c.2527+1011T>A (n.2527+1011T>A) | |
| 2 | g.189004047T>C | CA430311950 | COL3A1 | c.2628T>C (p.Gly876=) c.2727T>C (p.Gly909=) c.2527+1011T>C (n.2527+1011T>C) | |
| 2 | g.189004047T>G | CA430311949 | COL3A1 | c.2628T>G (p.Gly876=) c.2727T>G (p.Gly909=) c.2527+1011T>G (n.2527+1011T>G) | |
| 2 | g.189004048A>C | CA349843947 | COL3A1 | c.2629A>C (p.Asn877His) c.2728A>C (p.Asn910His) c.2527+1012A>C (n.2527+1012A>C) | |
| 2 | g.189004048A>G | CA349843948 | COL3A1 | c.2629A>G (p.Asn877Asp) c.2728A>G (p.Asn910Asp) c.2527+1012A>G (n.2527+1012A>G) | |
| 2 | g.189004048A>T | CA349843949 | COL3A1 | c.2629A>T (p.Asn877Tyr) c.2728A>T (p.Asn910Tyr) c.2527+1012A>T (n.2527+1012A>T) | |
| 2 | g.189004049A>C | CA349843952 | COL3A1 | c.2630A>C (p.Asn877Thr) c.2729A>C (p.Asn910Thr) c.2527+1013A>C (n.2527+1013A>C) | |
| 2 | g.189004049A>G | CA349843953 | COL3A1 | c.2630A>G (p.Asn877Ser) c.2729A>G (p.Asn910Ser) c.2527+1013A>G (n.2527+1013A>G) | gnomAD v4 |
| 2 | g.189004049A>T | CA349843955 | COL3A1 | c.2630A>T (p.Asn877Ile) c.2729A>T (p.Asn910Ile) c.2527+1013A>T (n.2527+1013A>T) | |
| 2 | g.189004050C>A | CA349843960 | COL3A1 | c.2631C>A (p.Asn877Lys) c.2730C>A (p.Asn910Lys) c.2527+1014C>A (n.2527+1014C>A) | |
| 2 | g.189004050C>G | CA349843957 | COL3A1 | c.2631C>G (p.Asn877Lys) c.2730C>G (p.Asn910Lys) c.2527+1014C>G (n.2527+1014C>G) | |
| 2 | g.189004050C>T | CA430311958 | COL3A1 | c.2631C>T (p.Asn877=) c.2730C>T (p.Asn910=) c.2527+1014C>T (n.2527+1014C>T) | |
| 2 | g.189004051A= | CA1315403040 | COL3A1 | c.2632A= (p.Thr878=) c.2731A= (p.Thr911=) c.2527+1015A= (n.2527+1015A=) | |
| 2 | g.189004051A>C | CA349843962 | COL3A1 | c.2632A>C (p.Thr878Pro) c.2731A>C (p.Thr911Pro) c.2527+1015A>C (n.2527+1015A>C) | |
| 2 | g.189004051A>G | CA349843963 | COL3A1 | c.2632A>G (p.Thr878Ala) c.2731A>G (p.Thr911Ala) c.2527+1015A>G (n.2527+1015A>G) | gnomAD v4 |
| 2 | g.189004051A>T | CA349843965 | COL3A1 | c.2632A>T (p.Thr878Ser) c.2731A>T (p.Thr911Ser) c.2527+1015A>T (n.2527+1015A>T) | dbSNP |
| 2 | g.189004052C>A | CA349843967 | COL3A1 | c.2633C>A (p.Thr878Asn) c.2732C>A (p.Thr911Asn) c.2527+1016C>A (n.2527+1016C>A) | |
| 2 | g.189004052C= | CA1315403041 | COL3A1 | c.2633C= (p.Thr878=) c.2732C= (p.Thr911=) c.2527+1016C= (n.2527+1016C=) | |
| 2 | g.189004052C>G | CA075568 | COL3A1 | c.2633C>G (p.Thr878Ser) c.2732C>G (p.Thr911Ser) c.2527+1016C>G (n.2527+1016C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004052C>T | CA349843970 | COL3A1 | c.2633C>T (p.Thr878Ile) c.2732C>T (p.Thr911Ile) c.2527+1016C>T (n.2527+1016C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004053T>A | CA430311960 | COL3A1 | c.2634T>A (p.Thr878=) c.2733T>A (p.Thr911=) c.2527+1017T>A (n.2527+1017T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004053T>C | CA075571 | COL3A1 | c.2634T>C (p.Thr878=) c.2733T>C (p.Thr911=) c.2527+1017T>C (n.2527+1017T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004053T>G | CA430311963 | COL3A1 | c.2634T>G (p.Thr878=) c.2733T>G (p.Thr911=) c.2527+1017T>G (n.2527+1017T>G) | |
| 2 | g.189004053T= | CA1315403042 | COL3A1 | c.2634T= (p.Thr878=) c.2733T= (p.Thr911=) c.2527+1017T= (n.2527+1017T=) | |
| 2 | g.189004054G>A | CA349843974 | COL3A1 | c.2635G>A (p.Gly879Ser) c.2734G>A (p.Gly912Ser) c.2527+1018G>A (n.2527+1018G>A) | ClinVar dbSNP |
| 2 | g.189004054G>C | CA349843976 | COL3A1 | c.2635G>C (p.Gly879Arg) c.2734G>C (p.Gly912Arg) c.2527+1018G>C (n.2527+1018G>C) | |
| 2 | g.189004054G>T | CA349843978 | COL3A1 | c.2635G>T (p.Gly879Cys) c.2734G>T (p.Gly912Cys) c.2527+1018G>T (n.2527+1018G>T) | |
| 2 | g.189004055G>A | CA005640 | COL3A1 | c.2636G>A (p.Gly879Asp) c.2735G>A (p.Gly912Asp) c.2527+1019G>A (n.2527+1019G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004055G>C | CA349843982 | COL3A1 | c.2636G>C (p.Gly879Ala) c.2735G>C (p.Gly912Ala) c.2527+1019G>C (n.2527+1019G>C) | |
| 2 | g.189004055G= | CA1315403043 | COL3A1 | c.2636G= (p.Gly879=) c.2735G= (p.Gly912=) c.2527+1019G= (n.2527+1019G=) | |
| 2 | g.189004055G>T | CA349843984 | COL3A1 | c.2636G>T (p.Gly879Val) c.2735G>T (p.Gly912Val) c.2527+1019G>T (n.2527+1019G>T) | |
| 2 | g.189004056T>A | CA430311968 | COL3A1 | c.2637T>A (p.Gly879=) c.2736T>A (p.Gly912=) c.2527+1020T>A (n.2527+1020T>A) | |
| 2 | g.189004056T>C | CA430311969 | COL3A1 | c.2637T>C (p.Gly879=) c.2736T>C (p.Gly912=) c.2527+1020T>C (n.2527+1020T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004056T>G | CA430311970 | COL3A1 | c.2637T>G (p.Gly879=) c.2736T>G (p.Gly912=) c.2527+1020T>G (n.2527+1020T>G) | gnomAD v4 |
| 2 | g.189004056T= | CA1315403044 | COL3A1 | c.2637T= (p.Gly879=) c.2736T= (p.Gly912=) c.2527+1020T= (n.2527+1020T=) | |
| 2 | g.189004057G>A | CA349843991 | COL3A1 | c.2638G>A (p.Ala880Thr) c.2737G>A (p.Ala913Thr) c.2527+1021G>A (n.2527+1021G>A) | |
| 2 | g.189004057G>C | CA349843988 | COL3A1 | c.2638G>C (p.Ala880Pro) c.2737G>C (p.Ala913Pro) c.2527+1021G>C (n.2527+1021G>C) | ClinVar |
| 2 | g.189004057G>T | CA349843990 | COL3A1 | c.2638G>T (p.Ala880Ser) c.2737G>T (p.Ala913Ser) c.2527+1021G>T (n.2527+1021G>T) | |
| 2 | g.189004058C>A | CA349843995 | COL3A1 | c.2639C>A (p.Ala880Asp) c.2738C>A (p.Ala913Asp) c.2527+1022C>A (n.2527+1022C>A) | COSMIC |
| 2 | g.189004058C>G | CA349843999 | COL3A1 | c.2639C>G (p.Ala880Gly) c.2738C>G (p.Ala913Gly) c.2527+1022C>G (n.2527+1022C>G) | |
| 2 | g.189004058C>T | CA349843996 | COL3A1 | c.2639C>T (p.Ala880Val) c.2738C>T (p.Ala913Val) c.2527+1022C>T (n.2527+1022C>T) | |
| 2 | g.189004059T>A | CA430311974 | COL3A1 | c.2640T>A (p.Ala880=) c.2739T>A (p.Ala913=) c.2527+1023T>A (n.2527+1023T>A) | |
| 2 | g.189004059T>C | CA430311975 | COL3A1 | c.2640T>C (p.Ala880=) c.2739T>C (p.Ala913=) c.2527+1023T>C (n.2527+1023T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004059T>G | CA430311976 | COL3A1 | c.2640T>G (p.Ala880=) c.2739T>G (p.Ala913=) c.2527+1023T>G (n.2527+1023T>G) | |
| 2 | g.189004059T= | CA1315403045 | COL3A1 | c.2640T= (p.Ala880=) c.2739T= (p.Ala913=) c.2527+1023T= (n.2527+1023T=) | |
| 2 | g.189004060C>A | CA349844000 | COL3A1 | c.2641C>A (p.Pro881Thr) c.2740C>A (p.Pro914Thr) c.2527+1024C>A (n.2527+1024C>A) | COSMIC |
| 2 | g.189004060C>G | CA349844003 | COL3A1 | c.2641C>G (p.Pro881Ala) c.2740C>G (p.Pro914Ala) c.2527+1024C>G (n.2527+1024C>G) | |
| 2 | g.189004060C>T | CA349844005 | COL3A1 | c.2641C>T (p.Pro881Ser) c.2740C>T (p.Pro914Ser) c.2527+1024C>T (n.2527+1024C>T) | gnomAD v4 COSMIC |
| 2 | g.189004061C>A | CA349844006 | COL3A1 | c.2642C>A (p.Pro881His) c.2741C>A (p.Pro914His) c.2527+1025C>A (n.2527+1025C>A) | |
| 2 | g.189004061C>G | CA349844008 | COL3A1 | c.2642C>G (p.Pro881Arg) c.2741C>G (p.Pro914Arg) c.2527+1025C>G (n.2527+1025C>G) | |
| 2 | g.189004061C>T | CA349844011 | COL3A1 | c.2642C>T (p.Pro881Leu) c.2741C>T (p.Pro914Leu) c.2527+1025C>T (n.2527+1025C>T) | |
| 2 | g.189004062T>A | CA430311980 | COL3A1 | c.2643T>A (p.Pro881=) c.2742T>A (p.Pro914=) c.2527+1026T>A (n.2527+1026T>A) | |
| 2 | g.189004062T>C | CA430311981 | COL3A1 | c.2643T>C (p.Pro881=) c.2742T>C (p.Pro914=) c.2527+1026T>C (n.2527+1026T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189004062T>G | CA430311982 | COL3A1 | c.2643T>G (p.Pro881=) c.2742T>G (p.Pro914=) c.2527+1026T>G (n.2527+1026T>G) | |
| 2 | g.189004062T= | CA1315403046 | COL3A1 | c.2643T= (p.Pro881=) c.2742T= (p.Pro914=) c.2527+1026T= (n.2527+1026T=) | |
| 2 | g.189004063G>A | CA349844013 | COL3A1 | c.2644G>A (p.Gly882Ser) c.2743G>A (p.Gly915Ser) c.2527+1027G>A (n.2527+1027G>A) | ClinVar dbSNP |
| 2 | g.189004063G>C | CA349844015 | COL3A1 | c.2644G>C (p.Gly882Arg) c.2743G>C (p.Gly915Arg) c.2527+1027G>C (n.2527+1027G>C) | |
| 2 | g.189004063G>T | CA349844017 | COL3A1 | c.2644G>T (p.Gly882Cys) c.2743G>T (p.Gly915Cys) c.2527+1027G>T (n.2527+1027G>T) | |
| 2 | g.189004064G>A | CA349844020 | COL3A1 | c.2645G>A (p.Gly882Asp) c.2744G>A (p.Gly915Asp) c.2527+1028G>A (n.2527+1028G>A) | |
| 2 | g.189004064G>C | CA349844022 | COL3A1 | c.2645G>C (p.Gly882Ala) c.2744G>C (p.Gly915Ala) c.2527+1028G>C (n.2527+1028G>C) | |
| 2 | g.189004064G>T | CA349844023 | COL3A1 | c.2645G>T (p.Gly882Val) c.2744G>T (p.Gly915Val) c.2527+1028G>T (n.2527+1028G>T) | |
| 2 | g.189004065C>A | CA075574 | COL3A1 | c.2646C>A (p.Gly882=) c.2745C>A (p.Gly915=) c.2527+1029C>A (n.2527+1029C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004065C= | CA1315403047 | COL3A1 | c.2646C= (p.Gly882=) c.2745C= (p.Gly915=) c.2527+1029C= (n.2527+1029C=) | |
| 2 | g.189004065C>G | CA430311985 | COL3A1 | c.2646C>G (p.Gly882=) c.2745C>G (p.Gly915=) c.2527+1029C>G (n.2527+1029C>G) | |
| 2 | g.189004065C>T | CA075577 | COL3A1 | c.2646C>T (p.Gly882=) c.2745C>T (p.Gly915=) c.2527+1029C>T (n.2527+1029C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004066A= | CA1315403048 | COL3A1 | c.2647A= (p.Ser883=) c.2746A= (p.Ser916=) c.2527+1030A= (n.2527+1030A=) | |
| 2 | g.189004066A>C | CA349844025 | COL3A1 | c.2647A>C (p.Ser883Arg) c.2746A>C (p.Ser916Arg) c.2527+1030A>C (n.2527+1030A>C) | |
| 2 | g.189004066A>G | CA349844027 | COL3A1 | c.2647A>G (p.Ser883Gly) c.2746A>G (p.Ser916Gly) c.2527+1030A>G (n.2527+1030A>G) | dbSNP |
| 2 | g.189004066A>T | CA349844028 | COL3A1 | c.2647A>T (p.Ser883Cys) c.2746A>T (p.Ser916Cys) c.2527+1030A>T (n.2527+1030A>T) | |
| 2 | g.189004067G>A | CA349844031 | COL3A1 | c.2648G>A (p.Ser883Asn) c.2747G>A (p.Ser916Asn) c.2527+1031G>A (n.2527+1031G>A) | gnomAD v4 |
| 2 | g.189004067G>C | CA349844032 | COL3A1 | c.2648G>C (p.Ser883Thr) c.2747G>C (p.Ser916Thr) c.2527+1031G>C (n.2527+1031G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004067G= | CA1315403049 | COL3A1 | c.2648G= (p.Ser883=) c.2747G= (p.Ser916=) c.2527+1031G= (n.2527+1031G=) | |
| 2 | g.189004067G>T | CA349844034 | COL3A1 | c.2648G>T (p.Ser883Ile) c.2747G>T (p.Ser916Ile) c.2527+1031G>T (n.2527+1031G>T) | |
| 2 | g.189004068C>A | CA349844038 | COL3A1 | c.2649C>A (p.Ser883Arg) c.2748C>A (p.Ser916Arg) c.2527+1032C>A (n.2527+1032C>A) | |
| 2 | g.189004068C>G | CA349844036 | COL3A1 | c.2649C>G (p.Ser883Arg) c.2748C>G (p.Ser916Arg) c.2527+1032C>G (n.2527+1032C>G) | |
| 2 | g.189004068C>T | CA430311993 | COL3A1 | c.2649C>T (p.Ser883=) c.2748C>T (p.Ser916=) c.2527+1032C>T (n.2527+1032C>T) | |
| 2 | g.189004069C>A | CA62557413 | COL3A1 | c.2650C>A (p.Pro884Thr) c.2749C>A (p.Pro917Thr) c.2527+1033C>A (n.2527+1033C>A) | dbSNP |
| 2 | g.189004069C= | CA1315403050 | COL3A1 | c.2650C= (p.Pro884=) c.2749C= (p.Pro917=) c.2527+1033C= (n.2527+1033C=) | |
| 2 | g.189004069C>G | CA349844040 | COL3A1 | c.2650C>G (p.Pro884Ala) c.2749C>G (p.Pro917Ala) c.2527+1033C>G (n.2527+1033C>G) | |
| 2 | g.189004069C>T | CA349844042 | COL3A1 | c.2650C>T (p.Pro884Ser) c.2749C>T (p.Pro917Ser) c.2527+1033C>T (n.2527+1033C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004070C>A | CA349844045 | COL3A1 | c.2651C>A (p.Pro884His) c.2750C>A (p.Pro917His) c.2527+1034C>A (n.2527+1034C>A) | |
| 2 | g.189004070C>G | CA349844047 | COL3A1 | c.2651C>G (p.Pro884Arg) c.2750C>G (p.Pro917Arg) c.2527+1034C>G (n.2527+1034C>G) | |
| 2 | g.189004070C>T | CA349844048 | COL3A1 | c.2651C>T (p.Pro884Leu) c.2750C>T (p.Pro917Leu) c.2527+1034C>T (n.2527+1034C>T) | |
| 2 | g.189004071T>A | CA430312001 | COL3A1 | c.2652T>A (p.Pro884=) c.2751T>A (p.Pro917=) c.2527+1035T>A (n.2527+1035T>A) | |
| 2 | g.189004071T>C | CA430312000 | COL3A1 | c.2652T>C (p.Pro884=) c.2751T>C (p.Pro917=) c.2527+1035T>C (n.2527+1035T>C) | |
| 2 | g.189004071T>G | CA430311998 | COL3A1 | c.2652T>G (p.Pro884=) c.2751T>G (p.Pro917=) c.2527+1035T>G (n.2527+1035T>G) | |
| 2 | g.189004072G>A | CA349844050 | COL3A1 | c.2653G>A (p.Gly885Arg) c.2752G>A (p.Gly918Arg) c.2527+1036G>A (n.2527+1036G>A) | ClinVar dbSNP |
| 2 | g.189004072G>C | CA349844054 | COL3A1 | c.2653G>C (p.Gly885Arg) c.2752G>C (p.Gly918Arg) c.2527+1036G>C (n.2527+1036G>C) | |
| 2 | g.189004072G= | CA1315403051 | COL3A1 | c.2653G= (p.Gly885=) c.2752G= (p.Gly918=) c.2527+1036G= (n.2527+1036G=) | |
| 2 | g.189004072G>T | CA349844052 | COL3A1 | c.2653G>T (p.Gly885Ter) c.2752G>T (p.Gly918Ter) c.2527+1036G>T (n.2527+1036G>T) | |
| 2 | g.189004073G>A | CA005646 | COL3A1 | c.2654G>A (p.Gly885Glu) c.2753G>A (p.Gly918Glu) c.2527+1037G>A (n.2527+1037G>A) | ClinVar dbSNP |
| 2 | g.189004073G>C | CA349844058 | COL3A1 | c.2654G>C (p.Gly885Ala) c.2753G>C (p.Gly918Ala) c.2527+1037G>C (n.2527+1037G>C) | |
| 2 | g.189004073G= | CA1315403052 | COL3A1 | c.2654G= (p.Gly885=) c.2753G= (p.Gly918=) c.2527+1037G= (n.2527+1037G=) | |
| 2 | g.189004073G>T | CA349844060 | COL3A1 | c.2654G>T (p.Gly885Val) c.2753G>T (p.Gly918Val) c.2527+1037G>T (n.2527+1037G>T) | |
| 2 | g.189004074A>C | CA430312008 | COL3A1 | c.2655A>C (p.Gly885=) c.2754A>C (p.Gly918=) c.2527+1038A>C (n.2527+1038A>C) | |
| 2 | g.189004074A>G | CA430312010 | COL3A1 | c.2655A>G (p.Gly885=) c.2754A>G (p.Gly918=) c.2527+1038A>G (n.2527+1038A>G) | |
| 2 | g.189004074A>T | CA430312009 | COL3A1 | c.2655A>T (p.Gly885=) c.2754A>T (p.Gly918=) c.2527+1038A>T (n.2527+1038A>T) | |
| 2 | g.189004075G>A | CA075582 | COL3A1 | c.2656G>A (p.Val886Met) c.2755G>A (p.Val919Met) c.2527+1039G>A (n.2527+1039G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189004075G>C | CA349844063 | COL3A1 | c.2656G>C (p.Val886Leu) c.2755G>C (p.Val919Leu) c.2527+1039G>C (n.2527+1039G>C) | |
| 2 | g.189004075G= | CA1315403053 | COL3A1 | c.2656G= (p.Val886=) c.2755G= (p.Val919=) c.2527+1039G= (n.2527+1039G=) | |
| 2 | g.189004075G>T | CA349844066 | COL3A1 | c.2656G>T (p.Val886Leu) c.2755G>T (p.Val919Leu) c.2527+1039G>T (n.2527+1039G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004076T>A | CA349844068 | COL3A1 | c.2657T>A (p.Val886Glu) c.2756T>A (p.Val919Glu) c.2527+1040T>A (n.2527+1040T>A) | |
| 2 | g.189004076T>C | CA349844070 | COL3A1 | c.2657T>C (p.Val886Ala) c.2756T>C (p.Val919Ala) c.2527+1040T>C (n.2527+1040T>C) | dbSNP gnomAD v4 |
| 2 | g.189004076T>G | CA349844072 | COL3A1 | c.2657T>G (p.Val886Gly) c.2756T>G (p.Val919Gly) c.2527+1040T>G (n.2527+1040T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004076T= | CA1315403054 | COL3A1 | c.2657T= (p.Val886=) c.2756T= (p.Val919=) c.2527+1040T= (n.2527+1040T=) | |
| 2 | g.189004077G>A | CA430312013 | COL3A1 | c.2658G>A (p.Val886=) c.2757G>A (p.Val919=) c.2527+1041G>A (n.2527+1041G>A) | gnomAD v4 |
| 2 | g.189004077G>C | CA430312015 | COL3A1 | c.2658G>C (p.Val886=) c.2757G>C (p.Val919=) c.2527+1041G>C (n.2527+1041G>C) | |
| 2 | g.189004077G>T | CA430312016 | COL3A1 | c.2658G>T (p.Val886=) c.2757G>T (p.Val919=) c.2527+1041G>T (n.2527+1041G>T) | |
| 2 | g.189004078T>A | CA349844073 | COL3A1 | c.2659T>A (p.Ser887Thr) c.2758T>A (p.Ser920Thr) c.2527+1042T>A (n.2527+1042T>A) | gnomAD v4 |
| 2 | g.189004078T>C | CA349844075 | COL3A1 | c.2659T>C (p.Ser887Pro) c.2758T>C (p.Ser920Pro) c.2527+1042T>C (n.2527+1042T>C) | |
| 2 | g.189004078T>G | CA349844077 | COL3A1 | c.2659T>G (p.Ser887Ala) c.2758T>G (p.Ser920Ala) c.2527+1042T>G (n.2527+1042T>G) | |
| 2 | g.189004079C>A | CA349844085 | COL3A1 | c.2660C>A (p.Ser887Tyr) c.2759C>A (p.Ser920Tyr) c.2527+1043C>A (n.2527+1043C>A) | |
| 2 | g.189004079C>G | CA349844082 | COL3A1 | c.2660C>G (p.Ser887Cys) c.2759C>G (p.Ser920Cys) c.2527+1043C>G (n.2527+1043C>G) | |
| 2 | g.189004079C>T | CA349844079 | COL3A1 | c.2660C>T (p.Ser887Phe) c.2759C>T (p.Ser920Phe) c.2527+1043C>T (n.2527+1043C>T) | |
| 2 | g.189004080T>A | CA430312022 | COL3A1 | c.2661T>A (p.Ser887=) c.2760T>A (p.Ser920=) c.2527+1044T>A (n.2527+1044T>A) | |
| 2 | g.189004080T>C | CA430312023 | COL3A1 | c.2661T>C (p.Ser887=) c.2760T>C (p.Ser920=) c.2527+1044T>C (n.2527+1044T>C) | gnomAD v4 |
| 2 | g.189004080T>G | CA430312024 | COL3A1 | c.2661T>G (p.Ser887=) c.2760T>G (p.Ser920=) c.2527+1044T>G (n.2527+1044T>G) | |
| 2 | g.189004081G>A | CA349844087 | COL3A1 | c.2662G>A (p.Gly888Arg) c.2761G>A (p.Gly921Arg) c.2527+1045G>A (n.2527+1045G>A) | |
| 2 | g.189004081G>C | CA349844090 | COL3A1 | c.2662G>C (p.Gly888Arg) c.2761G>C (p.Gly921Arg) c.2527+1045G>C (n.2527+1045G>C) | |
| 2 | g.189004081G>T | CA349844092 | COL3A1 | c.2662G>T (p.Gly888Ter) c.2761G>T (p.Gly921Ter) c.2527+1045G>T (n.2527+1045G>T) | |
| 2 | g.189004082G>A | CA349844094 | COL3A1 | c.2663G>A (p.Gly888Glu) c.2762G>A (p.Gly921Glu) c.2527+1046G>A (n.2527+1046G>A) | ClinVar dbSNP |
| 2 | g.189004082G>C | CA349844096 | COL3A1 | c.2663G>C (p.Gly888Ala) c.2762G>C (p.Gly921Ala) c.2527+1046G>C (n.2527+1046G>C) | |
| 2 | g.189004082G= | CA1315403055 | COL3A1 | c.2663G= (p.Gly888=) c.2762G= (p.Gly921=) c.2527+1046G= (n.2527+1046G=) | |
| 2 | g.189004082G>T | CA349844098 | COL3A1 | c.2663G>T (p.Gly888Val) c.2762G>T (p.Gly921Val) c.2527+1046G>T (n.2527+1046G>T) | |
| 2 | g.189004083A>C | CA430312030 | COL3A1 | c.2664A>C (p.Gly888=) c.2763A>C (p.Gly921=) c.2527+1047A>C (n.2527+1047A>C) | |
| 2 | g.189004083A>G | CA430312031 | COL3A1 | c.2664A>G (p.Gly888=) c.2763A>G (p.Gly921=) c.2527+1047A>G (n.2527+1047A>G) | |
| 2 | g.189004083A>T | CA430312032 | COL3A1 | c.2664A>T (p.Gly888=) c.2763A>T (p.Gly921=) c.2527+1047A>T (n.2527+1047A>T) | |
| 2 | g.189004084C>A | CA349844101 | COL3A1 | c.2665C>A (p.Pro889Thr) c.2764C>A (p.Pro922Thr) c.2527+1048C>A (n.2527+1048C>A) | |
| 2 | g.189004084C>G | CA349844102 | COL3A1 | c.2665C>G (p.Pro889Ala) c.2764C>G (p.Pro922Ala) c.2527+1048C>G (n.2527+1048C>G) | |
| 2 | g.189004084C>T | CA349844105 | COL3A1 | c.2665C>T (p.Pro889Ser) c.2764C>T (p.Pro922Ser) c.2527+1048C>T (n.2527+1048C>T) | |
| 2 | g.189004085C>A | CA349844106 | COL3A1 | c.2666C>A (p.Pro889Gln) c.2765C>A (p.Pro922Gln) c.2527+1049C>A (n.2527+1049C>A) | |
| 2 | g.189004085C>G | CA349844108 | COL3A1 | c.2666C>G (p.Pro889Arg) c.2765C>G (p.Pro922Arg) c.2527+1049C>G (n.2527+1049C>G) | |
| 2 | g.189004085C>T | CA349844110 | COL3A1 | c.2666C>T (p.Pro889Leu) c.2765C>T (p.Pro922Leu) c.2527+1049C>T (n.2527+1049C>T) | gnomAD v4 |
| 2 | g.189004086A= | CA1315403056 | COL3A1 | c.2667A= (p.Pro889=) c.2766A= (p.Pro922=) c.2527+1050A= (n.2527+1050A=) | |
| 2 | g.189004086A>C | CA62557417 | COL3A1 | c.2667A>C (p.Pro889=) c.2766A>C (p.Pro922=) c.2527+1050A>C (n.2527+1050A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004086A>G | CA430312042 | COL3A1 | c.2667A>G (p.Pro889=) c.2766A>G (p.Pro922=) c.2527+1050A>G (n.2527+1050A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004086A>T | CA430312044 | COL3A1 | c.2667A>T (p.Pro889=) c.2766A>T (p.Pro922=) c.2527+1050A>T (n.2527+1050A>T) | |
| 2 | g.189004087A>C | CA349844113 | COL3A1 | c.2668A>C (p.Lys890Gln) c.2767A>C (p.Lys923Gln) c.2527+1051A>C (n.2527+1051A>C) | |
| 2 | g.189004087A>G | CA349844118 | COL3A1 | c.2668A>G (p.Lys890Glu) c.2767A>G (p.Lys923Glu) c.2527+1051A>G (n.2527+1051A>G) | |
| 2 | g.189004087A>T | CA349844115 | COL3A1 | c.2668A>T (p.Lys890Ter) c.2767A>T (p.Lys923Ter) c.2527+1051A>T (n.2527+1051A>T) | |
| 2 | g.189004088A>C | CA349844120 | COL3A1 | c.2669A>C (p.Lys890Thr) c.2768A>C (p.Lys923Thr) c.2527+1052A>C (n.2527+1052A>C) | gnomAD v4 |
| 2 | g.189004088A>G | CA349844123 | COL3A1 | c.2669A>G (p.Lys890Arg) c.2768A>G (p.Lys923Arg) c.2527+1052A>G (n.2527+1052A>G) | |
| 2 | g.189004088A>T | CA349844122 | COL3A1 | c.2669A>T (p.Lys890Ile) c.2768A>T (p.Lys923Ile) c.2527+1052A>T (n.2527+1052A>T) | |
| 2 | g.189004089A= | CA1315403057 | COL3A1 | c.2670A= (p.Lys890=) c.2769A= (p.Lys923=) c.2527+1053A= (n.2527+1053A=) | |
| 2 | g.189004089A>C | CA349844124 | COL3A1 | c.2670A>C (p.Lys890Asn) c.2769A>C (p.Lys923Asn) c.2527+1053A>C (n.2527+1053A>C) | |
| 2 | g.189004089A>G | CA430312048 | COL3A1 | c.2670A>G (p.Lys890=) c.2769A>G (p.Lys923=) c.2527+1053A>G (n.2527+1053A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189004089A>T | CA349844125 | COL3A1 | c.2670A>T (p.Lys890Asn) c.2769A>T (p.Lys923Asn) c.2527+1053A>T (n.2527+1053A>T) |