Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.101243615G>A | CA252813 | IMPG2 | c.2716C>T (p.Arg906Ter) c.2422C>T (p.Arg808Ter) c.2305C>T (p.Arg769Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.101243615G>C | CA353855880 | IMPG2 | c.2716C>G (p.Arg906Gly) c.2422C>G (p.Arg808Gly) c.2305C>G (p.Arg769Gly) | |
3 | g.101243615G= | CA1388615850 | IMPG2 | c.2716C= (p.Arg906=) c.2422C= (p.Arg808=) c.2305C= (p.Arg769=) | |
3 | g.101243615G>T | CA434869608 | IMPG2 | c.2716C>A (p.Arg906=) c.2422C>A (p.Arg808=) c.2305C>A (p.Arg769=) | |
3 | g.101243616G>A | CA434869609 | IMPG2 | c.2715C>T (p.Leu905=) c.2421C>T (p.Leu807=) c.2304C>T (p.Leu768=) | dbSNP |
3 | g.101243616G>C | CA434869610 | IMPG2 | c.2715C>G (p.Leu905=) c.2421C>G (p.Leu807=) c.2304C>G (p.Leu768=) | |
3 | g.101243616G>T | CA434869611 | IMPG2 | c.2715C>A (p.Leu905=) c.2421C>A (p.Leu807=) c.2304C>A (p.Leu768=) | |
3 | g.101243617A>C | CA353855894 | IMPG2 | c.2714T>G (p.Leu905Arg) c.2420T>G (p.Leu807Arg) c.2303T>G (p.Leu768Arg) | |
3 | g.101243617A>G | CA353855891 | IMPG2 | c.2714T>C (p.Leu905Pro) c.2420T>C (p.Leu807Pro) c.2303T>C (p.Leu768Pro) | |
3 | g.101243617A>T | CA353855885 | IMPG2 | c.2714T>A (p.Leu905His) c.2420T>A (p.Leu807His) c.2303T>A (p.Leu768His) | |
3 | g.101243618G>A | CA353855902 | IMPG2 | c.2713C>T (p.Leu905Phe) c.2419C>T (p.Leu807Phe) c.2302C>T (p.Leu768Phe) | |
3 | g.101243618G>C | CA353855897 | IMPG2 | c.2713C>G (p.Leu905Val) c.2419C>G (p.Leu807Val) c.2302C>G (p.Leu768Val) | |
3 | g.101243618G>T | CA353855900 | IMPG2 | c.2713C>A (p.Leu905Ile) c.2419C>A (p.Leu807Ile) c.2302C>A (p.Leu768Ile) | |
3 | g.101243619G>A | CA434869612 | IMPG2 | c.2712C>T (p.Ser904=) c.2418C>T (p.Ser806=) c.2301C>T (p.Ser767=) | |
3 | g.101243619G>C | CA353855905 | IMPG2 | c.2712C>G (p.Ser904Arg) c.2418C>G (p.Ser806Arg) c.2301C>G (p.Ser767Arg) | |
3 | g.101243619G>T | CA353855907 | IMPG2 | c.2712C>A (p.Ser904Arg) c.2418C>A (p.Ser806Arg) c.2301C>A (p.Ser767Arg) | |
3 | g.101243620C>A | CA353855911 | IMPG2 | c.2711G>T (p.Ser904Ile) c.2417G>T (p.Ser806Ile) c.2300G>T (p.Ser767Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243620C= | CA1388615851 | IMPG2 | c.2711G= (p.Ser904=) c.2417G= (p.Ser806=) c.2300G= (p.Ser767=) | |
3 | g.101243620C>G | CA353855914 | IMPG2 | c.2711G>C (p.Ser904Thr) c.2417G>C (p.Ser806Thr) c.2300G>C (p.Ser767Thr) | |
3 | g.101243620C>T | CA353855915 | IMPG2 | c.2711G>A (p.Ser904Asn) c.2417G>A (p.Ser806Asn) c.2300G>A (p.Ser767Asn) | gnomAD v4 |
3 | g.101243621T>A | CA353855920 | IMPG2 | c.2710A>T (p.Ser904Cys) c.2416A>T (p.Ser806Cys) c.2299A>T (p.Ser767Cys) | |
3 | g.101243621T>C | CA353855921 | IMPG2 | c.2710A>G (p.Ser904Gly) c.2416A>G (p.Ser806Gly) c.2299A>G (p.Ser767Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243621T>G | CA353855924 | IMPG2 | c.2710A>C (p.Ser904Arg) c.2416A>C (p.Ser806Arg) c.2299A>C (p.Ser767Arg) | |
3 | g.101243621T= | CA1388615852 | IMPG2 | c.2710A= (p.Ser904=) c.2416A= (p.Ser806=) c.2299A= (p.Ser767=) | |
3 | g.101243622G>A | CA434869613 | IMPG2 | c.2709C>T (p.Phe903=) c.2415C>T (p.Phe805=) c.2298C>T (p.Phe766=) | gnomAD v4 |
3 | g.101243622G>C | CA353855927 | IMPG2 | c.2709C>G (p.Phe903Leu) c.2415C>G (p.Phe805Leu) c.2298C>G (p.Phe766Leu) | |
3 | g.101243622G>T | CA353855928 | IMPG2 | c.2709C>A (p.Phe903Leu) c.2415C>A (p.Phe805Leu) c.2298C>A (p.Phe766Leu) | |
3 | g.101243623A>C | CA353855930 | IMPG2 | c.2708T>G (p.Phe903Cys) c.2414T>G (p.Phe805Cys) c.2297T>G (p.Phe766Cys) | gnomAD v4 |
3 | g.101243623A>G | CA353855931 | IMPG2 | c.2708T>C (p.Phe903Ser) c.2414T>C (p.Phe805Ser) c.2297T>C (p.Phe766Ser) | |
3 | g.101243623A>T | CA353855929 | IMPG2 | c.2708T>A (p.Phe903Tyr) c.2414T>A (p.Phe805Tyr) c.2297T>A (p.Phe766Tyr) | |
3 | g.101243624A>C | CA353855933 | IMPG2 | c.2707T>G (p.Phe903Val) c.2413T>G (p.Phe805Val) c.2296T>G (p.Phe766Val) | |
3 | g.101243624A>G | CA353855935 | IMPG2 | c.2707T>C (p.Phe903Leu) c.2413T>C (p.Phe805Leu) c.2296T>C (p.Phe766Leu) | gnomAD v4 |
3 | g.101243624A>T | CA353855936 | IMPG2 | c.2707T>A (p.Phe903Ile) c.2413T>A (p.Phe805Ile) c.2296T>A (p.Phe766Ile) | |
3 | g.101243625G>A | CA434869614 | IMPG2 | c.2706C>T (p.Phe902=) c.2412C>T (p.Phe804=) c.2295C>T (p.Phe765=) | |
3 | g.101243625G>C | CA353855939 | IMPG2 | c.2706C>G (p.Phe902Leu) c.2412C>G (p.Phe804Leu) c.2295C>G (p.Phe765Leu) | |
3 | g.101243625G>T | CA353855941 | IMPG2 | c.2706C>A (p.Phe902Leu) c.2412C>A (p.Phe804Leu) c.2295C>A (p.Phe765Leu) | |
3 | g.101243626A>C | CA353855949 | IMPG2 | c.2705T>G (p.Phe902Cys) c.2411T>G (p.Phe804Cys) c.2294T>G (p.Phe765Cys) | |
3 | g.101243626A>G | CA353855944 | IMPG2 | c.2705T>C (p.Phe902Ser) c.2411T>C (p.Phe804Ser) c.2294T>C (p.Phe765Ser) | gnomAD v4 |
3 | g.101243626A>T | CA353855946 | IMPG2 | c.2705T>A (p.Phe902Tyr) c.2411T>A (p.Phe804Tyr) c.2294T>A (p.Phe765Tyr) | |
3 | g.101243627A>C | CA353855951 | IMPG2 | c.2704T>G (p.Phe902Val) c.2410T>G (p.Phe804Val) c.2293T>G (p.Phe765Val) | |
3 | g.101243627A>G | CA353855961 | IMPG2 | c.2704T>C (p.Phe902Leu) c.2410T>C (p.Phe804Leu) c.2293T>C (p.Phe765Leu) | |
3 | g.101243627A>T | CA353855964 | IMPG2 | c.2704T>A (p.Phe902Ile) c.2410T>A (p.Phe804Ile) c.2293T>A (p.Phe765Ile) | |
3 | g.101243628A>C | CA434869615 | IMPG2 | c.2703T>G (p.Val901=) c.2409T>G (p.Val803=) c.2292T>G (p.Val764=) | |
3 | g.101243628A>G | CA434869616 | IMPG2 | c.2703T>C (p.Val901=) c.2409T>C (p.Val803=) c.2292T>C (p.Val764=) | |
3 | g.101243628A>T | CA434869617 | IMPG2 | c.2703T>A (p.Val901=) c.2409T>A (p.Val803=) c.2292T>A (p.Val764=) | |
3 | g.101243629A>C | CA353855966 | IMPG2 | c.2702T>G (p.Val901Gly) c.2408T>G (p.Val803Gly) c.2291T>G (p.Val764Gly) | |
3 | g.101243629A>G | CA353855967 | IMPG2 | c.2702T>C (p.Val901Ala) c.2408T>C (p.Val803Ala) c.2291T>C (p.Val764Ala) | |
3 | g.101243629A>T | CA353855969 | IMPG2 | c.2702T>A (p.Val901Asp) c.2408T>A (p.Val803Asp) c.2291T>A (p.Val764Asp) | |
3 | g.101243630C>A | CA353855981 | IMPG2 | c.2701G>T (p.Val901Phe) c.2407G>T (p.Val803Phe) c.2290G>T (p.Val764Phe) | |
3 | g.101243630C>G | CA353855987 | IMPG2 | c.2701G>C (p.Val901Leu) c.2407G>C (p.Val803Leu) c.2290G>C (p.Val764Leu) |