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.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=) |