Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |