Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162268086C>A | CA348990329 | IFIH1 | c.*2404+1G>T (n.*2404+1G>T) c.2690+1G>T (n.2690+1G>T) n.52G>T n.2417+1G>T c.2807+1G>T (n.2807+1G>T) c.2495+1G>T (n.2495+1G>T) c.2090+1G>T (n.2090+1G>T) | |
2 | g.162268086C= | CA1303141852 | IFIH1 | c.*2404+1G= (n.*2404+1G=) c.2690+1G= (n.2690+1G=) n.52G= n.2417+1G= c.2807+1G= (n.2807+1G=) c.2495+1G= (n.2495+1G=) c.2090+1G= (n.2090+1G=) | |
2 | g.162268086C>G | CA348990332 | IFIH1 | c.*2404+1G>C (n.*2404+1G>C) c.2690+1G>C (n.2690+1G>C) n.52G>C n.2417+1G>C c.2807+1G>C (n.2807+1G>C) c.2495+1G>C (n.2495+1G>C) c.2090+1G>C (n.2090+1G>C) | gnomAD v4 |
2 | g.162268086C>T | CA1934075 | IFIH1 | c.*2404+1G>A (n.*2404+1G>A) c.2690+1G>A (n.2690+1G>A) n.52G>A n.2417+1G>A c.2807+1G>A (n.2807+1G>A) c.2495+1G>A (n.2495+1G>A) c.2090+1G>A (n.2090+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162268087T>A | CA348990343 | IFIH1 | c.*2404A>T (n.*2404A>T) c.2690A>T (p.Lys897Met) n.51A>T n.2417A>T c.2807A>T (p.Lys936Met) c.2495A>T (p.Lys832Met) c.2090A>T (p.Lys697Met) | |
2 | g.162268087T>C | CA348990337 | IFIH1 | c.*2404A>G (n.*2404A>G) c.2690A>G (p.Lys897Arg) n.51A>G n.2417A>G c.2807A>G (p.Lys936Arg) c.2495A>G (p.Lys832Arg) c.2090A>G (p.Lys697Arg) | |
2 | g.162268087T>G | CA348990340 | IFIH1 | c.*2404A>C (n.*2404A>C) c.2690A>C (p.Lys897Thr) n.51A>C n.2417A>C c.2807A>C (p.Lys936Thr) c.2495A>C (p.Lys832Thr) c.2090A>C (p.Lys697Thr) | |
2 | g.162268088T>A | CA348990348 | IFIH1 | c.*2403A>T (n.*2403A>T) c.2689A>T (p.Lys897Ter) n.50A>T n.2416A>T c.2806A>T (p.Lys936Ter) c.2494A>T (p.Lys832Ter) c.2089A>T (p.Lys697Ter) | |
2 | g.162268088T>C | CA348990351 | IFIH1 | c.*2403A>G (n.*2403A>G) c.2689A>G (p.Lys897Glu) n.50A>G n.2416A>G c.2806A>G (p.Lys936Glu) c.2494A>G (p.Lys832Glu) c.2089A>G (p.Lys697Glu) | gnomAD v4 |
2 | g.162268088T>G | CA348990353 | IFIH1 | c.*2403A>C (n.*2403A>C) c.2689A>C (p.Lys897Gln) n.50A>C n.2416A>C c.2806A>C (p.Lys936Gln) c.2494A>C (p.Lys832Gln) c.2089A>C (p.Lys697Gln) | |
2 | g.162268089G>A | CA429529788 | IFIH1 | c.*2402C>T (n.*2402C>T) c.2688C>T (p.Phe896=) n.49C>T n.2415C>T c.2805C>T (p.Phe935=) c.2493C>T (p.Phe831=) c.2088C>T (p.Phe696=) | COSMIC |
2 | g.162268089G>C | CA348990357 | IFIH1 | c.*2402C>G (n.*2402C>G) c.2688C>G (p.Phe896Leu) n.49C>G n.2415C>G c.2805C>G (p.Phe935Leu) c.2493C>G (p.Phe831Leu) c.2088C>G (p.Phe696Leu) | |
2 | g.162268089G>T | CA348990360 | IFIH1 | c.*2402C>A (n.*2402C>A) c.2688C>A (p.Phe896Leu) n.49C>A n.2415C>A c.2805C>A (p.Phe935Leu) c.2493C>A (p.Phe831Leu) c.2088C>A (p.Phe696Leu) | |
2 | g.162268090A>C | CA348990361 | IFIH1 | c.*2401T>G (n.*2401T>G) c.2687T>G (p.Phe896Cys) n.48T>G n.2414T>G c.2804T>G (p.Phe935Cys) c.2492T>G (p.Phe831Cys) c.2087T>G (p.Phe696Cys) | |
2 | g.162268090A>G | CA348990362 | IFIH1 | c.*2401T>C (n.*2401T>C) c.2687T>C (p.Phe896Ser) n.48T>C n.2414T>C c.2804T>C (p.Phe935Ser) c.2492T>C (p.Phe831Ser) c.2087T>C (p.Phe696Ser) | |
2 | g.162268090A>T | CA348990365 | IFIH1 | c.*2401T>A (n.*2401T>A) c.2687T>A (p.Phe896Tyr) n.48T>A n.2414T>A c.2804T>A (p.Phe935Tyr) c.2492T>A (p.Phe831Tyr) c.2087T>A (p.Phe696Tyr) | |
2 | g.162268091A>C | CA348990370 | IFIH1 | c.*2400T>G (n.*2400T>G) c.2686T>G (p.Phe896Val) n.47T>G n.2413T>G c.2803T>G (p.Phe935Val) c.2491T>G (p.Phe831Val) c.2086T>G (p.Phe696Val) | |
2 | g.162268091A>G | CA348990388 | IFIH1 | c.*2400T>C (n.*2400T>C) c.2686T>C (p.Phe896Leu) n.47T>C n.2413T>C c.2803T>C (p.Phe935Leu) c.2491T>C (p.Phe831Leu) c.2086T>C (p.Phe696Leu) | |
2 | g.162268091A>T | CA348990391 | IFIH1 | c.*2400T>A (n.*2400T>A) c.2686T>A (p.Phe896Ile) n.47T>A n.2413T>A c.2803T>A (p.Phe935Ile) c.2491T>A (p.Phe831Ile) c.2086T>A (p.Phe696Ile) | |
2 | g.162268092T>A | CA348990413 | IFIH1 | c.*2399A>T (n.*2399A>T) c.2685A>T (p.Glu895Asp) n.46A>T n.2412A>T c.2802A>T (p.Glu934Asp) c.2490A>T (p.Glu830Asp) c.2085A>T (p.Glu695Asp) | gnomAD v4 |
2 | g.162268092T>C | CA429529809 | IFIH1 | c.*2399A>G (n.*2399A>G) c.2685A>G (p.Glu895=) n.46A>G n.2412A>G c.2802A>G (p.Glu934=) c.2490A>G (p.Glu830=) c.2085A>G (p.Glu695=) | |
2 | g.162268092T>G | CA348990416 | IFIH1 | c.*2399A>C (n.*2399A>C) c.2685A>C (p.Glu895Asp) n.46A>C n.2412A>C c.2802A>C (p.Glu934Asp) c.2490A>C (p.Glu830Asp) c.2085A>C (p.Glu695Asp) | |
2 | g.162268093T>A | CA348990421 | IFIH1 | c.*2398A>T (n.*2398A>T) c.2684A>T (p.Glu895Val) n.45A>T n.2411A>T c.2801A>T (p.Glu934Val) c.2489A>T (p.Glu830Val) c.2084A>T (p.Glu695Val) | |
2 | g.162268093T>C | CA348990422 | IFIH1 | c.*2398A>G (n.*2398A>G) c.2684A>G (p.Glu895Gly) n.45A>G n.2411A>G c.2801A>G (p.Glu934Gly) c.2489A>G (p.Glu830Gly) c.2084A>G (p.Glu695Gly) | |
2 | g.162268093T>G | CA348990423 | IFIH1 | c.*2398A>C (n.*2398A>C) c.2684A>C (p.Glu895Ala) n.45A>C n.2411A>C c.2801A>C (p.Glu934Ala) c.2489A>C (p.Glu830Ala) c.2084A>C (p.Glu695Ala) | |
2 | g.162268094C>A | CA348990428 | IFIH1 | c.*2397G>T (n.*2397G>T) c.2683G>T (p.Glu895Ter) n.44G>T n.2410G>T c.2800G>T (p.Glu934Ter) c.2488G>T (p.Glu830Ter) c.2083G>T (p.Glu695Ter) | |
2 | g.162268094C>G | CA348990432 | IFIH1 | c.*2397G>C (n.*2397G>C) c.2683G>C (p.Glu895Gln) n.44G>C n.2410G>C c.2800G>C (p.Glu934Gln) c.2488G>C (p.Glu830Gln) c.2083G>C (p.Glu695Gln) | |
2 | g.162268094C>T | CA348990440 | IFIH1 | c.*2397G>A (n.*2397G>A) c.2683G>A (p.Glu895Lys) n.44G>A n.2410G>A c.2800G>A (p.Glu934Lys) c.2488G>A (p.Glu830Lys) c.2083G>A (p.Glu695Lys) | ClinVar |
2 | g.162268095T>A | CA429529832 | IFIH1 | c.*2396A>T (n.*2396A>T) c.2682A>T (p.Pro894=) n.43A>T n.2409A>T c.2799A>T (p.Pro933=) c.2487A>T (p.Pro829=) c.2082A>T (p.Pro694=) | |
2 | g.162268095T>C | CA429529833 | IFIH1 | c.*2396A>G (n.*2396A>G) c.2682A>G (p.Pro894=) n.43A>G n.2409A>G c.2799A>G (p.Pro933=) c.2487A>G (p.Pro829=) c.2082A>G (p.Pro694=) | |
2 | g.162268095T>G | CA429529837 | IFIH1 | c.*2396A>C (n.*2396A>C) c.2682A>C (p.Pro894=) n.43A>C n.2409A>C c.2799A>C (p.Pro933=) c.2487A>C (p.Pro829=) c.2082A>C (p.Pro694=) | |
2 | g.162268096G>A | CA348990446 | IFIH1 | c.*2395C>T (n.*2395C>T) c.2681C>T (p.Pro894Leu) n.42C>T n.2408C>T c.2798C>T (p.Pro933Leu) c.2486C>T (p.Pro829Leu) c.2081C>T (p.Pro694Leu) | |
2 | g.162268096G>C | CA348990450 | IFIH1 | c.*2395C>G (n.*2395C>G) c.2681C>G (p.Pro894Arg) n.42C>G n.2408C>G c.2798C>G (p.Pro933Arg) c.2486C>G (p.Pro829Arg) c.2081C>G (p.Pro694Arg) | |
2 | g.162268096G>T | CA348990454 | IFIH1 | c.*2395C>A (n.*2395C>A) c.2681C>A (p.Pro894Gln) n.42C>A n.2408C>A c.2798C>A (p.Pro933Gln) c.2486C>A (p.Pro829Gln) c.2081C>A (p.Pro694Gln) | |
2 | g.162268099del | CA2580064161 | IFIH1 | c.*2395del (n.*2395del) c.2681del (p.Pro894GlnfsTer9) n.42del n.2408del c.2798del (p.Pro933GlnfsTer9) c.2486del (p.Pro829GlnfsTer9) c.2081del (p.Pro694GlnfsTer9) | ClinVar |
2 | g.162268097G>A | CA348990455 | IFIH1 | c.*2394C>T (n.*2394C>T) c.2680C>T (p.Pro894Ser) n.41C>T n.2407C>T c.2797C>T (p.Pro933Ser) c.2485C>T (p.Pro829Ser) c.2080C>T (p.Pro694Ser) | |
2 | g.162268097G>C | CA348990456 | IFIH1 | c.*2394C>G (n.*2394C>G) c.2680C>G (p.Pro894Ala) n.41C>G n.2407C>G c.2797C>G (p.Pro933Ala) c.2485C>G (p.Pro829Ala) c.2080C>G (p.Pro694Ala) | |
2 | g.162268097G>T | CA348990458 | IFIH1 | c.*2394C>A (n.*2394C>A) c.2680C>A (p.Pro894Thr) n.41C>A n.2407C>A c.2797C>A (p.Pro933Thr) c.2485C>A (p.Pro829Thr) c.2080C>A (p.Pro694Thr) | |
2 | g.162268098G>A | CA59652840 | IFIH1 | c.*2393C>T (n.*2393C>T) c.2679C>T (p.Thr893=) n.40C>T n.2406C>T c.2796C>T (p.Thr932=) c.2484C>T (p.Thr828=) c.2079C>T (p.Thr693=) | ClinVar dbSNP |
2 | g.162268098G>C | CA429529868 | IFIH1 | c.*2393C>G (n.*2393C>G) c.2679C>G (p.Thr893=) n.40C>G n.2406C>G c.2796C>G (p.Thr932=) c.2484C>G (p.Thr828=) c.2079C>G (p.Thr693=) | |
2 | g.162268098G= | CA1303141857 | IFIH1 | c.*2393C= (n.*2393C=) c.2679C= (p.Thr893=) n.40C= n.2406C= c.2796C= (p.Thr932=) c.2484C= (p.Thr828=) c.2079C= (p.Thr693=) | |
2 | g.162268098G>T | CA429529871 | IFIH1 | c.*2393C>A (n.*2393C>A) c.2679C>A (p.Thr893=) n.40C>A n.2406C>A c.2796C>A (p.Thr932=) c.2484C>A (p.Thr828=) c.2079C>A (p.Thr693=) | gnomAD v4 |
2 | g.162268099G>A | CA348990474 | IFIH1 | c.*2392C>T (n.*2392C>T) c.2678C>T (p.Thr893Ile) n.39C>T n.2405C>T c.2795C>T (p.Thr932Ile) c.2483C>T (p.Thr828Ile) c.2078C>T (p.Thr693Ile) | |
2 | g.162268099G>C | CA348990478 | IFIH1 | c.*2392C>G (n.*2392C>G) c.2678C>G (p.Thr893Ser) n.39C>G n.2405C>G c.2795C>G (p.Thr932Ser) c.2483C>G (p.Thr828Ser) c.2078C>G (p.Thr693Ser) | |
2 | g.162268099G= | CA1303141863 | IFIH1 | c.*2392C= (n.*2392C=) c.2678C= (p.Thr893=) n.39C= n.2405C= c.2795C= (p.Thr932=) c.2483C= (p.Thr828=) c.2078C= (p.Thr693=) | |
2 | g.162268099G>T | CA348990466 | IFIH1 | c.*2392C>A (n.*2392C>A) c.2678C>A (p.Thr893Asn) n.39C>A n.2405C>A c.2795C>A (p.Thr932Asn) c.2483C>A (p.Thr828Asn) c.2078C>A (p.Thr693Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.162268100T>A | CA348990491 | IFIH1 | c.*2391A>T (n.*2391A>T) c.2677A>T (p.Thr893Ser) n.38A>T n.2404A>T c.2794A>T (p.Thr932Ser) c.2482A>T (p.Thr828Ser) c.2077A>T (p.Thr693Ser) | |
2 | g.162268100T>C | CA348990497 | IFIH1 | c.*2391A>G (n.*2391A>G) c.2677A>G (p.Thr893Ala) n.38A>G n.2404A>G c.2794A>G (p.Thr932Ala) c.2482A>G (p.Thr828Ala) c.2077A>G (p.Thr693Ala) | gnomAD v4 |
2 | g.162268100T>G | CA348990500 | IFIH1 | c.*2391A>C (n.*2391A>C) c.2677A>C (p.Thr893Pro) n.38A>C n.2404A>C c.2794A>C (p.Thr932Pro) c.2482A>C (p.Thr828Pro) c.2077A>C (p.Thr693Pro) | |
2 | g.162268101C>A | CA348990501 | IFIH1 | c.*2390G>T (n.*2390G>T) c.2676G>T (p.Met892Ile) n.37G>T n.2403G>T c.2793G>T (p.Met931Ile) c.2481G>T (p.Met827Ile) c.2076G>T (p.Met692Ile) |