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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.179129910_179129925del | CA3595552 | ADAMTS2 | c.2457+10_2457+25del (n.2457+10_2457+25del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129915G>A | CA2739272806 | ADAMTS2 | c.2457+17C>T (n.2457+17C>T) | ClinVar |
| 5 | g.179129916C>A | CA2606635235 | ADAMTS2 | c.2457+16G>T (n.2457+16G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179129916C>G | CA2578504361 | ADAMTS2 | c.2457+16G>C (n.2457+16G>C) | ClinVar |
| 5 | g.179129916C>T | CA564902282 | ADAMTS2 | c.2457+16G>A (n.2457+16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129918C>G | CA2676856263 | ADAMTS2 | c.2457+14G>C (n.2457+14G>C) | gnomAD v4 |
| 5 | g.179129918C>T | CA2578504362 | ADAMTS2 | c.2457+14G>A (n.2457+14G>A) | |
| 5 | g.179129919T>G | CA2676856265 | ADAMTS2 | c.2457+13A>C (n.2457+13A>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179129920G>C | CA3595554 | ADAMTS2 | c.2457+12C>G (n.2457+12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129920G>T | CA2842609871 | ADAMTS2 | c.2457+12C>A (n.2457+12C>A) | |
| 5 | g.179129922T>C | CA2769633674 | ADAMTS2 | c.2457+10A>G (n.2457+10A>G) | |
| 5 | g.179129924G>C | CA2578504363 | ADAMTS2 | c.2457+8C>G (n.2457+8C>G) | gnomAD v4 |
| 5 | g.179129925G>A | CA808243982 | ADAMTS2 | c.2457+7C>T (n.2457+7C>T) | ClinVar dbSNP |
| 5 | g.179129925G>T | CA3595555 | ADAMTS2 | c.2457+7C>A (n.2457+7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129926A>G | CA2578504364 | ADAMTS2 | c.2457+6T>C (n.2457+6T>C) | gnomAD v4 |
| 5 | g.179129929C>A | CA2676856271 | ADAMTS2 | c.2457+3G>T (n.2457+3G>T) | gnomAD v4 |
| 5 | g.179129930A>C | CA362423828 | ADAMTS2 | c.2457+2T>G (n.2457+2T>G) | |
| 5 | g.179129930A>G | CA362423829 | ADAMTS2 | c.2457+2T>C (n.2457+2T>C) | |
| 5 | g.179129930A>T | CA362423830 | ADAMTS2 | c.2457+2T>A (n.2457+2T>A) | |
| 5 | g.179129931C>A | CA362423831 | ADAMTS2 | c.2457+1G>T (n.2457+1G>T) | |
| 5 | g.179129931C>G | CA362423832 | ADAMTS2 | c.2457+1G>C (n.2457+1G>C) | |
| 5 | g.179129931C>T | CA362423833 | ADAMTS2 | c.2457+1G>A (n.2457+1G>A) | ClinVar dbSNP COSMIC |
| 5 | g.179129932C>A | CA448034167 | ADAMTS2 | c.2457G>T (p.Leu819=) | dbSNP |
| 5 | g.179129932C>G | CA448034169 | ADAMTS2 | c.2457G>C (p.Leu819=) | |
| 5 | g.179129932C>T | CA448034171 | ADAMTS2 | c.2457G>A (p.Leu819=) | gnomAD v4 |
| 5 | g.179129933A>C | CA362423834 | ADAMTS2 | c.2456T>G (p.Leu819Arg) | |
| 5 | g.179129933A>G | CA362423835 | ADAMTS2 | c.2456T>C (p.Leu819Pro) | |
| 5 | g.179129933A>T | CA362423836 | ADAMTS2 | c.2456T>A (p.Leu819Gln) | |
| 5 | g.179129934G>A | CA448034175 | ADAMTS2 | c.2455C>T (p.Leu819=) | ClinVar |
| 5 | g.179129934G>C | CA362423837 | ADAMTS2 | c.2455C>G (p.Leu819Val) | |
| 5 | g.179129934G>T | CA362423838 | ADAMTS2 | c.2455C>A (p.Leu819Met) | |
| 5 | g.179129935A>C | CA448034180 | ADAMTS2 | c.2454T>G (p.Val818=) | COSMIC |
| 5 | g.179129935A>G | CA448034181 | ADAMTS2 | c.2454T>C (p.Val818=) | ClinVar dbSNP |
| 5 | g.179129935A>T | CA448034183 | ADAMTS2 | c.2454T>A (p.Val818=) | ClinVar gnomAD v4 |
| 5 | g.179129936A>C | CA362423839 | ADAMTS2 | c.2453T>G (p.Val818Gly) | |
| 5 | g.179129936A>G | CA362423841 | ADAMTS2 | c.2453T>C (p.Val818Ala) | |
| 5 | g.179129936A>T | CA362423840 | ADAMTS2 | c.2453T>A (p.Val818Asp) | |
| 5 | g.179129937C>A | CA362423842 | ADAMTS2 | c.2452G>T (p.Val818Phe) | dbSNP gnomAD v2 |
| 5 | g.179129937C>G | CA362423843 | ADAMTS2 | c.2452G>C (p.Val818Leu) | |
| 5 | g.179129937C>T | CA3595556 | ADAMTS2 | c.2452G>A (p.Val818Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129938G>A | CA3595557 | ADAMTS2 | c.2451C>T (p.Thr817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129938G>C | CA448034188 | ADAMTS2 | c.2451C>G (p.Thr817=) | |
| 5 | g.179129938G>T | CA448034190 | ADAMTS2 | c.2451C>A (p.Thr817=) | dbSNP gnomAD v4 |
| 5 | g.179129939G>A | CA362423844 | ADAMTS2 | c.2450C>T (p.Thr817Ile) | COSMIC |
| 5 | g.179129939G>C | CA362423845 | ADAMTS2 | c.2450C>G (p.Thr817Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129939G>T | CA362423846 | ADAMTS2 | c.2450C>A (p.Thr817Asn) | |
| 5 | g.179129940T>A | CA362423847 | ADAMTS2 | c.2449A>T (p.Thr817Ser) | |
| 5 | g.179129940T>C | CA362423848 | ADAMTS2 | c.2449A>G (p.Thr817Ala) | gnomAD v4 |
| 5 | g.179129940T>G | CA362423849 | ADAMTS2 | c.2449A>C (p.Thr817Pro) | |
| 5 | g.179129941G>A | CA448034200 | ADAMTS2 | c.2448C>T (p.Ile816=) | ClinVar gnomAD v4 |
| 5 | g.179129941G>C | CA362423850 | ADAMTS2 | c.2448C>G (p.Ile816Met) | |
| 5 | g.179129941G>T | CA448034198 | ADAMTS2 | c.2448C>A (p.Ile816=) | |
| 5 | g.179129942A>C | CA362423852 | ADAMTS2 | c.2447T>G (p.Ile816Ser) | |
| 5 | g.179129942A>G | CA362423853 | ADAMTS2 | c.2447T>C (p.Ile816Thr) | |
| 5 | g.179129942A>T | CA362423851 | ADAMTS2 | c.2447T>A (p.Ile816Asn) | |
| 5 | g.179129943T>A | CA362423854 | ADAMTS2 | c.2446A>T (p.Ile816Phe) | |
| 5 | g.179129943T>C | CA362423855 | ADAMTS2 | c.2446A>G (p.Ile816Val) | |
| 5 | g.179129943T>G | CA362423856 | ADAMTS2 | c.2446A>C (p.Ile816Leu) | |
| 5 | g.179129944G>A | CA448034213 | ADAMTS2 | c.2445C>T (p.Thr815=) | |
| 5 | g.179129944G>C | CA448034214 | ADAMTS2 | c.2445C>G (p.Thr815=) | |
| 5 | g.179129944G>T | CA448034215 | ADAMTS2 | c.2445C>A (p.Thr815=) | |
| 5 | g.179129945_179129950del | CA2580074091 | ADAMTS2 | c.2440_2445del (p.Gly814_Thr815del) | ClinVar |
| 5 | g.179129945G>A | CA362423857 | ADAMTS2 | c.2444C>T (p.Thr815Ile) | gnomAD v4 |
| 5 | g.179129945G>C | CA362423858 | ADAMTS2 | c.2444C>G (p.Thr815Ser) | |
| 5 | g.179129945G>T | CA362423859 | ADAMTS2 | c.2444C>A (p.Thr815Asn) | gnomAD v4 |
| 5 | g.179129946T>A | CA362423862 | ADAMTS2 | c.2443A>T (p.Thr815Ser) | |
| 5 | g.179129946T>C | CA362423860 | ADAMTS2 | c.2443A>G (p.Thr815Ala) | |
| 5 | g.179129946T>G | CA362423861 | ADAMTS2 | c.2443A>C (p.Thr815Pro) | |
| 5 | g.179129947G>A | CA448034222 | ADAMTS2 | c.2442C>T (p.Gly814=) | gnomAD v4 |
| 5 | g.179129947G>C | CA448034226 | ADAMTS2 | c.2442C>G (p.Gly814=) | |
| 5 | g.179129947G>T | CA448034224 | ADAMTS2 | c.2442C>A (p.Gly814=) | |
| 5 | g.179129948C>A | CA362423863 | ADAMTS2 | c.2441G>T (p.Gly814Val) | |
| 5 | g.179129948C>G | CA362423864 | ADAMTS2 | c.2441G>C (p.Gly814Ala) | |
| 5 | g.179129948C>T | CA362423865 | ADAMTS2 | c.2441G>A (p.Gly814Asp) | gnomAD v4 |
| 5 | g.179129949C>A | CA362423866 | ADAMTS2 | c.2440G>T (p.Gly814Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129949C>G | CA362423867 | ADAMTS2 | c.2440G>C (p.Gly814Arg) | |
| 5 | g.179129949C>T | CA3595558 | ADAMTS2 | c.2440G>A (p.Gly814Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.179129950G>A | CA3595559 | ADAMTS2 | c.2439C>T (p.His813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179129950G>C | CA362423869 | ADAMTS2 | c.2439C>G (p.His813Gln) | |
| 5 | g.179129950G>T | CA362423868 | ADAMTS2 | c.2439C>A (p.His813Gln) | gnomAD v4 |
| 5 | g.179129951T>A | CA362423870 | ADAMTS2 | c.2438A>T (p.His813Leu) | |
| 5 | g.179129951T>C | CA362423871 | ADAMTS2 | c.2438A>G (p.His813Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129951T>G | CA362423872 | ADAMTS2 | c.2438A>C (p.His813Pro) | |
| 5 | g.179129952G>A | CA3595560 | ADAMTS2 | c.2437C>T (p.His813Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129952G>C | CA362423873 | ADAMTS2 | c.2437C>G (p.His813Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179129952G>T | CA362423874 | ADAMTS2 | c.2437C>A (p.His813Asn) | |
| 5 | g.179129953G>A | CA448034247 | ADAMTS2 | c.2436C>T (p.Leu812=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179129953G>C | CA448034250 | ADAMTS2 | c.2436C>G (p.Leu812=) | |
| 5 | g.179129953G>T | CA448034248 | ADAMTS2 | c.2436C>A (p.Leu812=) | |
| 5 | g.179129954A>C | CA362423875 | ADAMTS2 | c.2435T>G (p.Leu812Arg) | |
| 5 | g.179129954A>G | CA362423876 | ADAMTS2 | c.2435T>C (p.Leu812Pro) | |
| 5 | g.179129954A>T | CA362423877 | ADAMTS2 | c.2435T>A (p.Leu812His) | |
| 5 | g.179129955G>A | CA362423878 | ADAMTS2 | c.2434C>T (p.Leu812Phe) | gnomAD v4 COSMIC |
| 5 | g.179129955G>C | CA362423879 | ADAMTS2 | c.2434C>G (p.Leu812Val) | dbSNP gnomAD v4 |
| 5 | g.179129955G>T | CA362423880 | ADAMTS2 | c.2434C>A (p.Leu812Ile) | |
| 5 | g.179129959del | CA2676856332 | ADAMTS2 | c.2434del (p.Leu812SerfsTer19) | gnomAD v4 |
| 5 | g.179129956G>A | CA448034257 | ADAMTS2 | c.2433C>T (p.Pro811=) | |
| 5 | g.179129956G>C | CA448034259 | ADAMTS2 | c.2433C>G (p.Pro811=) | |
| 5 | g.179129956G>T | CA448034261 | ADAMTS2 | c.2433C>A (p.Pro811=) | gnomAD v4 |
| 5 | g.179129957G>A | CA362423881 | ADAMTS2 | c.2432C>T (p.Pro811Leu) | gnomAD v4 |
| 5 | g.179129957G>C | CA362423883 | ADAMTS2 | c.2432C>G (p.Pro811Arg) | |
| 5 | g.179129957G>T | CA362423882 | ADAMTS2 | c.2432C>A (p.Pro811His) | |
| 5 | g.179129958G>A | CA362423884 | ADAMTS2 | c.2431C>T (p.Pro811Ser) | |
| 5 | g.179129958G>C | CA3595561 | ADAMTS2 | c.2431C>G (p.Pro811Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.179129958G>T | CA362423885 | ADAMTS2 | c.2431C>A (p.Pro811Thr) | gnomAD v4 |
| 5 | g.179129959G>A | CA3595563 | ADAMTS2 | c.2430C>T (p.Gly810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129959G>C | CA448034275 | ADAMTS2 | c.2430C>G (p.Gly810=) | |
| 5 | g.179129959G>T | CA3595562 | ADAMTS2 | c.2430C>A (p.Gly810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129960C>A | CA362423888 | ADAMTS2 | c.2429G>T (p.Gly810Val) | gnomAD v4 |
| 5 | g.179129960C>G | CA362423887 | ADAMTS2 | c.2429G>C (p.Gly810Ala) | |
| 5 | g.179129960C>T | CA362423886 | ADAMTS2 | c.2429G>A (p.Gly810Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129961C>A | CA362423889 | ADAMTS2 | c.2428G>T (p.Gly810Cys) | gnomAD v4 |
| 5 | g.179129961C>G | CA362423890 | ADAMTS2 | c.2428G>C (p.Gly810Arg) | |
| 5 | g.179129961C>T | CA362423891 | ADAMTS2 | c.2428G>A (p.Gly810Ser) | |
| 5 | g.179129962C>A | CA362423892 | ADAMTS2 | c.2427G>T (p.Met809Ile) | |
| 5 | g.179129962C>G | CA362423893 | ADAMTS2 | c.2427G>C (p.Met809Ile) | |
| 5 | g.179129962C>T | CA133033094 | ADAMTS2 | c.2427G>A (p.Met809Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129963A>C | CA133033098 | ADAMTS2 | c.2426T>G (p.Met809Arg) | dbSNP |
| 5 | g.179129963A>G | CA362423895 | ADAMTS2 | c.2426T>C (p.Met809Thr) | gnomAD v4 |
| 5 | g.179129963A>T | CA362423894 | ADAMTS2 | c.2426T>A (p.Met809Lys) | |
| 5 | g.179129964T>A | CA362423896 | ADAMTS2 | c.2425A>T (p.Met809Leu) | |
| 5 | g.179129964T>C | CA362423897 | ADAMTS2 | c.2425A>G (p.Met809Val) | gnomAD v4 |
| 5 | g.179129964T>G | CA362423898 | ADAMTS2 | c.2425A>C (p.Met809Leu) | |
| 5 | g.179129965G>A | CA448034297 | ADAMTS2 | c.2424C>T (p.Thr808=) | |
| 5 | g.179129965G>C | CA448034299 | ADAMTS2 | c.2424C>G (p.Thr808=) | |
| 5 | g.179129965G>T | CA448034301 | ADAMTS2 | c.2424C>A (p.Thr808=) | |
| 5 | g.179129966dup | CA2839296313 | ADAMTS2 | c.2424dup (p.Met809HisfsTer30) | |
| 5 | g.179129966G>A | CA362423899 | ADAMTS2 | c.2423C>T (p.Thr808Ile) | |
| 5 | g.179129966G>C | CA362423900 | ADAMTS2 | c.2423C>G (p.Thr808Ser) | |
| 5 | g.179129966G>T | CA362423901 | ADAMTS2 | c.2423C>A (p.Thr808Asn) | |
| 5 | g.179129967del | CA2499217797 | ADAMTS2 | c.2422del (p.Thr808ProfsTer23) | ClinVar dbSNP |
| 5 | g.179129967T>A | CA362423902 | ADAMTS2 | c.2422A>T (p.Thr808Ser) | |
| 5 | g.179129967T>C | CA362423903 | ADAMTS2 | c.2422A>G (p.Thr808Ala) | |
| 5 | g.179129967T>G | CA362423904 | ADAMTS2 | c.2422A>C (p.Thr808Pro) | gnomAD v4 |
| 5 | g.179129968C>A | CA362423905 | ADAMTS2 | c.2421G>T (p.Gln807His) | |
| 5 | g.179129968C>G | CA362423906 | ADAMTS2 | c.2421G>C (p.Gln807His) | |
| 5 | g.179129968C>T | CA448034309 | ADAMTS2 | c.2421G>A (p.Gln807=) | dbSNP |
| 5 | g.179129969T>A | CA362423908 | ADAMTS2 | c.2420A>T (p.Gln807Leu) | |
| 5 | g.179129969T>C | CA362423909 | ADAMTS2 | c.2420A>G (p.Gln807Arg) | |
| 5 | g.179129969T>G | CA362423907 | ADAMTS2 | c.2420A>C (p.Gln807Pro) | |
| 5 | g.179129970G>A | CA362423912 | ADAMTS2 | c.2419C>T (p.Gln807Ter) | gnomAD v4 |
| 5 | g.179129970G>C | CA362423910 | ADAMTS2 | c.2419C>G (p.Gln807Glu) | |
| 5 | g.179129970G>T | CA362423911 | ADAMTS2 | c.2419C>A (p.Gln807Lys) | |
| 5 | g.179129971C>A | CA448034313 | ADAMTS2 | c.2418G>T (p.Leu806=) | |
| 5 | g.179129971C>G | CA448034315 | ADAMTS2 | c.2418G>C (p.Leu806=) | |
| 5 | g.179129971C>T | CA448034317 | ADAMTS2 | c.2418G>A (p.Leu806=) | ClinVar dbSNP gnomAD v2 |
| 5 | g.179129972A>C | CA362423913 | ADAMTS2 | c.2417T>G (p.Leu806Arg) | |
| 5 | g.179129972A>G | CA362423914 | ADAMTS2 | c.2417T>C (p.Leu806Pro) | |
| 5 | g.179129972A>T | CA362423915 | ADAMTS2 | c.2417T>A (p.Leu806Gln) | |
| 5 | g.179129973G>A | CA448034326 | ADAMTS2 | c.2416C>T (p.Leu806=) | |
| 5 | g.179129973G>C | CA362423916 | ADAMTS2 | c.2416C>G (p.Leu806Val) | |
| 5 | g.179129973G>T | CA362423917 | ADAMTS2 | c.2416C>A (p.Leu806Met) | |
| 5 | g.179129974C>A | CA448034329 | ADAMTS2 | c.2415G>T (p.Thr805=) | |
| 5 | g.179129974C>G | CA448034330 | ADAMTS2 | c.2415G>C (p.Thr805=) | |
| 5 | g.179129974C>T | CA448034332 | ADAMTS2 | c.2415G>A (p.Thr805=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179129975G>A | CA3595564 | ADAMTS2 | c.2414C>T (p.Thr805Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179129975G>C | CA3595565 | ADAMTS2 | c.2414C>G (p.Thr805Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129975G>T | CA362423918 | ADAMTS2 | c.2414C>A (p.Thr805Lys) | |
| 5 | g.179129976T>A | CA362423919 | ADAMTS2 | c.2413A>T (p.Thr805Ser) | |
| 5 | g.179129976T>C | CA362423920 | ADAMTS2 | c.2413A>G (p.Thr805Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179129976T>G | CA362423921 | ADAMTS2 | c.2413A>C (p.Thr805Pro) | |
| 5 | g.179129977C>A | CA362423923 | ADAMTS2 | c.2412G>T (p.Glu804Asp) | |
| 5 | g.179129977C>G | CA362423922 | ADAMTS2 | c.2412G>C (p.Glu804Asp) | |
| 5 | g.179129977C>T | CA3595566 | ADAMTS2 | c.2412G>A (p.Glu804=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129978T>A | CA362423924 | ADAMTS2 | c.2411A>T (p.Glu804Val) | |
| 5 | g.179129978T>C | CA362423925 | ADAMTS2 | c.2411A>G (p.Glu804Gly) | |
| 5 | g.179129978T>G | CA362423926 | ADAMTS2 | c.2411A>C (p.Glu804Ala) | |
| 5 | g.179129979C>A | CA362423927 | ADAMTS2 | c.2410G>T (p.Glu804Ter) | |
| 5 | g.179129979C>G | CA362423928 | ADAMTS2 | c.2410G>C (p.Glu804Gln) | |
| 5 | g.179129979C>T | CA362423929 | ADAMTS2 | c.2410G>A (p.Glu804Lys) | |
| 5 | g.179129980C>A | CA448034362 | ADAMTS2 | c.2409G>T (p.Arg803=) | |
| 5 | g.179129980C>G | CA448034364 | ADAMTS2 | c.2409G>C (p.Arg803=) | |
| 5 | g.179129980C>T | CA448034366 | ADAMTS2 | c.2409G>A (p.Arg803=) | COSMIC |
| 5 | g.179129981C>A | CA3595568 | ADAMTS2 | c.2408G>T (p.Arg803Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129981C>G | CA362423930 | ADAMTS2 | c.2408G>C (p.Arg803Pro) | |
| 5 | g.179129981C>T | CA3595567 | ADAMTS2 | c.2408G>A (p.Arg803Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129982G>A | CA3595569 | ADAMTS2 | c.2407C>T (p.Arg803Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129982G>C | CA362423931 | ADAMTS2 | c.2407C>G (p.Arg803Gly) | ClinVar gnomAD v4 |
| 5 | g.179129982G>T | CA448034377 | ADAMTS2 | c.2407C>A (p.Arg803=) | |
| 5 | g.179129983G>A | CA448034383 | ADAMTS2 | c.2406C>T (p.Gly802=) | |
| 5 | g.179129983G>C | CA448034381 | ADAMTS2 | c.2406C>G (p.Gly802=) | |
| 5 | g.179129983G>T | CA448034379 | ADAMTS2 | c.2406C>A (p.Gly802=) | |
| 5 | g.179129984C>A | CA362423932 | ADAMTS2 | c.2405G>T (p.Gly802Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129984C>G | CA362423933 | ADAMTS2 | c.2405G>C (p.Gly802Ala) | |
| 5 | g.179129984C>T | CA362423934 | ADAMTS2 | c.2405G>A (p.Gly802Asp) | |
| 5 | g.179129985C>A | CA3595571 | ADAMTS2 | c.2404G>T (p.Gly802Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129985C>G | CA362423935 | ADAMTS2 | c.2404G>C (p.Gly802Arg) | |
| 5 | g.179129985C>T | CA3595570 | ADAMTS2 | c.2404G>A (p.Gly802Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179129986G>A | CA3595572 | ADAMTS2 | c.2403C>T (p.Asp801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179129986G>C | CA362423936 | ADAMTS2 | c.2403C>G (p.Asp801Glu) | |
| 5 | g.179129986G>T | CA362423937 | ADAMTS2 | c.2403C>A (p.Asp801Glu) | gnomAD v4 |
| 5 | g.179129987T>A | CA362423938 | ADAMTS2 | c.2402A>T (p.Asp801Val) | |
| 5 | g.179129987T>C | CA362423939 | ADAMTS2 | c.2402A>G (p.Asp801Gly) | |
| 5 | g.179129987T>G | CA362423940 | ADAMTS2 | c.2402A>C (p.Asp801Ala) | |
| 5 | g.179129988C>A | CA362423943 | ADAMTS2 | c.2401G>T (p.Asp801Tyr) | |
| 5 | g.179129988C>G | CA362423941 | ADAMTS2 | c.2401G>C (p.Asp801His) | |
| 5 | g.179129988C>T | CA362423942 | ADAMTS2 | c.2401G>A (p.Asp801Asn) | gnomAD v4 |
| 5 | g.179129989C>A | CA362423944 | ADAMTS2 | c.2400G>T (p.Glu800Asp) | |
| 5 | g.179129989C>G | CA362423945 | ADAMTS2 | c.2400G>C (p.Glu800Asp) | |
| 5 | g.179129989C>T | CA448034400 | ADAMTS2 | c.2400G>A (p.Glu800=) | |
| 5 | g.179129990T>A | CA362423946 | ADAMTS2 | c.2399A>T (p.Glu800Val) | |
| 5 | g.179129990T>C | CA362423947 | ADAMTS2 | c.2399A>G (p.Glu800Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179129990T>G | CA362423948 | ADAMTS2 | c.2399A>C (p.Glu800Ala) | |
| 5 | g.179129991C>A | CA362423949 | ADAMTS2 | c.2398G>T (p.Glu800Ter) | ClinVar |
| 5 | g.179129991C>G | CA362423950 | ADAMTS2 | c.2398G>C (p.Glu800Gln) | |
| 5 | g.179129991C>T | CA133033115 | ADAMTS2 | c.2398G>A (p.Glu800Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179129992G>A | CA3595573 | ADAMTS2 | c.2397C>T (p.Asp799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179129992G>C | CA362423951 | ADAMTS2 | c.2397C>G (p.Asp799Glu) | |
| 5 | g.179129992G>T | CA362423952 | ADAMTS2 | c.2397C>A (p.Asp799Glu) | gnomAD v4 |
| 5 | g.179129993T>A | CA362423953 | ADAMTS2 | c.2396A>T (p.Asp799Val) | |
| 5 | g.179129993T>C | CA362423954 | ADAMTS2 | c.2396A>G (p.Asp799Gly) | |
| 5 | g.179129993T>G | CA362423955 | ADAMTS2 | c.2396A>C (p.Asp799Ala) | |
| 5 | g.179129994C>A | CA362423956 | ADAMTS2 | c.2395G>T (p.Asp799Tyr) | |
| 5 | g.179129994C>G | CA362423957 | ADAMTS2 | c.2395G>C (p.Asp799His) | |
| 5 | g.179129994C>T | CA362423958 | ADAMTS2 | c.2395G>A (p.Asp799Asn) | |
| 5 | g.179129995T>A | CA362423959 | ADAMTS2 | c.2394A>T (p.Arg798Ser) | |
| 5 | g.179129995T>C | CA448034427 | ADAMTS2 | c.2394A>G (p.Arg798=) | dbSNP |
| 5 | g.179129995T>G | CA362423960 | ADAMTS2 | c.2394A>C (p.Arg798Ser) | |
| 5 | g.179129996C>A | CA362423961 | ADAMTS2 | c.2393G>T (p.Arg798Ile) | |
| 5 | g.179129996C>G | CA362423963 | ADAMTS2 | c.2393G>C (p.Arg798Thr) | COSMIC |
| 5 | g.179129996C>T | CA362423962 | ADAMTS2 | c.2393G>A (p.Arg798Lys) | |
| 5 | g.179129997T>A | CA362423964 | ADAMTS2 | c.2392A>T (p.Arg798Ter) | |
| 5 | g.179129997T>C | CA3595574 | ADAMTS2 | c.2392A>G (p.Arg798Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179129997T>G | CA448034433 | ADAMTS2 | c.2392A>C (p.Arg798=) | |
| 5 | g.179129998G>A | CA448034435 | ADAMTS2 | c.2391C>T (p.Tyr797=) | |
| 5 | g.179129998G>C | CA362423965 | ADAMTS2 | c.2391C>G (p.Tyr797Ter) | |
| 5 | g.179129998G>T | CA362423966 | ADAMTS2 | c.2391C>A (p.Tyr797Ter) | |
| 5 | g.179129999T>A | CA362423967 | ADAMTS2 | c.2390A>T (p.Tyr797Phe) | |
| 5 | g.179129999T>C | CA362423968 | ADAMTS2 | c.2390A>G (p.Tyr797Cys) | |
| 5 | g.179129999T>G | CA362423969 | ADAMTS2 | c.2390A>C (p.Tyr797Ser) | |
| 5 | g.179130000A>C | CA362423970 | ADAMTS2 | c.2389T>G (p.Tyr797Asp) | |
| 5 | g.179130000A>G | CA362423971 | ADAMTS2 | c.2389T>C (p.Tyr797His) | |
| 5 | g.179130000A>T | CA362423972 | ADAMTS2 | c.2389T>A (p.Tyr797Asn) | |
| 5 | g.179130000dup | CA2497132095 | ADAMTS2 | c.2389dup (p.Tyr797LeufsTer?) | dbSNP |
| 5 | g.179130001C>A | CA362423973 | ADAMTS2 | c.2388G>T (p.Glu796Asp) | |
| 5 | g.179130001C>G | CA362423974 | ADAMTS2 | c.2388G>C (p.Glu796Asp) | |
| 5 | g.179130001C>T | CA3595575 | ADAMTS2 | c.2388G>A (p.Glu796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130002T>A | CA362423977 | ADAMTS2 | c.2387A>T (p.Glu796Val) | |
| 5 | g.179130002T>C | CA362423976 | ADAMTS2 | c.2387A>G (p.Glu796Gly) | |
| 5 | g.179130002T>G | CA362423975 | ADAMTS2 | c.2387A>C (p.Glu796Ala) | |
| 5 | g.179130003C>A | CA362423978 | ADAMTS2 | c.2386G>T (p.Glu796Ter) | |
| 5 | g.179130003C>G | CA362423979 | ADAMTS2 | c.2386G>C (p.Glu796Gln) | |
| 5 | g.179130003C>T | CA362423980 | ADAMTS2 | c.2386G>A (p.Glu796Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179130004C>A | CA362423981 | ADAMTS2 | c.2385G>T (p.Trp795Cys) | |
| 5 | g.179130004C>G | CA362423982 | ADAMTS2 | c.2385G>C (p.Trp795Cys) | |
| 5 | g.179130004C>T | CA362423984 | ADAMTS2 | c.2385G>A (p.Trp795Ter) | ClinVar dbSNP |
| 5 | g.179130005C>A | CA362423985 | ADAMTS2 | c.2384G>T (p.Trp795Leu) | |
| 5 | g.179130005C= | CA2838168232 | ADAMTS2 | c.2384G= (p.Trp795=) | |
| 5 | g.179130005C>G | CA362423986 | ADAMTS2 | c.2384G>C (p.Trp795Ser) | |
| 5 | g.179130005C>T | CA117558 | ADAMTS2 | c.2384G>A (p.Trp795Ter) | ClinVar dbSNP |
| 5 | g.179130006A>C | CA362423987 | ADAMTS2 | c.2383T>G (p.Trp795Gly) | |
| 5 | g.179130006A>G | CA362423988 | ADAMTS2 | c.2383T>C (p.Trp795Arg) | |
| 5 | g.179130006A>T | CA362423989 | ADAMTS2 | c.2383T>A (p.Trp795Arg) | |
| 5 | g.179130007C>A | CA362423990 | ADAMTS2 | c.2382G>T (p.Glu794Asp) | |
| 5 | g.179130007C>G | CA3595576 | ADAMTS2 | c.2382G>C (p.Glu794Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130007C>T | CA10624271 | ADAMTS2 | c.2382G>A (p.Glu794=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179130008T>A | CA362423991 | ADAMTS2 | c.2381A>T (p.Glu794Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179130008T>C | CA362423992 | ADAMTS2 | c.2381A>G (p.Glu794Gly) | |
| 5 | g.179130008T>G | CA362423993 | ADAMTS2 | c.2381A>C (p.Glu794Ala) | |
| 5 | g.179130009C>A | CA362423995 | ADAMTS2 | c.2380G>T (p.Glu794Ter) | |
| 5 | g.179130009C>G | CA362423996 | ADAMTS2 | c.2380G>C (p.Glu794Gln) | |
| 5 | g.179130009C>T | CA362423997 | ADAMTS2 | c.2380G>A (p.Glu794Lys) | gnomAD v4 COSMIC |
| 5 | g.179130010C>A | CA448034478 | ADAMTS2 | c.2379G>T (p.Val793=) | |
| 5 | g.179130010C>G | CA448034480 | ADAMTS2 | c.2379G>C (p.Val793=) | |
| 5 | g.179130010C>T | CA448034476 | ADAMTS2 | c.2379G>A (p.Val793=) | dbSNP gnomAD v4 |
| 5 | g.179130011A>C | CA362424000 | ADAMTS2 | c.2378T>G (p.Val793Gly) | |
| 5 | g.179130011A>G | CA362424002 | ADAMTS2 | c.2378T>C (p.Val793Ala) | |
| 5 | g.179130011A>T | CA362424005 | ADAMTS2 | c.2378T>A (p.Val793Glu) | dbSNP |
| 5 | g.179130012C>A | CA362424013 | ADAMTS2 | c.2377G>T (p.Val793Leu) | |
| 5 | g.179130012C>G | CA362424015 | ADAMTS2 | c.2377G>C (p.Val793Leu) | gnomAD v4 |
| 5 | g.179130012C>T | CA3595577 | ADAMTS2 | c.2377G>A (p.Val793Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179130013G>A | CA3595578 | ADAMTS2 | c.2376C>T (p.Gly792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179130013G>C | CA448034490 | ADAMTS2 | c.2376C>G (p.Gly792=) | |
| 5 | g.179130013G>T | CA448034488 | ADAMTS2 | c.2376C>A (p.Gly792=) | |
| 5 | g.179130014C>A | CA362424022 | ADAMTS2 | c.2375G>T (p.Gly792Val) | |
| 5 | g.179130014C>G | CA362424018 | ADAMTS2 | c.2375G>C (p.Gly792Ala) | |
| 5 | g.179130014C>T | CA362424020 | ADAMTS2 | c.2375G>A (p.Gly792Asp) | gnomAD v4 |
| 5 | g.179130016dup | CA2839296314 | ADAMTS2 | c.2375dup (p.Val793ArgfsTer?) | |
| 5 | g.179130015C>A | CA362424026 | ADAMTS2 | c.2374G>T (p.Gly792Cys) | |
| 5 | g.179130015C>G | CA362424028 | ADAMTS2 | c.2374G>C (p.Gly792Arg) | |
| 5 | g.179130015C>T | CA362424029 | ADAMTS2 | c.2374G>A (p.Gly792Ser) | COSMIC |