| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32807848_32807860dup | CA2652423853 | DNMT3B | c.*1458_*1470dup (n.*1458_*1470dup) c.2318_2330dup (p.His778AlafsTer17) c.*1061_*1073dup (n.*1061_*1073dup) c.*1250_*1262dup (n.*1250_*1262dup) c.2288_2300dup (p.His768AlafsTer17) n.532_544dup c.2483_2495dup (p.His833AlafsTer17) c.2507_2519dup (p.His841AlafsTer17) c.2258_2270dup (p.His758AlafsTer17) c.2447_2459dup (p.His821AlafsTer17) c.2132_2144dup (p.His716AlafsTer17) c.2030_2042dup (p.His682AlafsTer17) c.2294_2306dup (p.His770AlafsTer17) c.2168_2180dup (p.His728AlafsTer17) n.2285_2297dup n.2296_2308dup | gnomAD v4 |
| 20 | g.32807853_32807866del | CA1016995071 | DNMT3B | c.*1463_*1476del (n.*1463_*1476del) c.2323_2336del (p.Val775LeufsTer11) c.*1066_*1079del (n.*1066_*1079del) c.*1255_*1268del (n.*1255_*1268del) c.2293_2306del (p.Val765LeufsTer11) n.537_550del c.2488_2501del (p.Val830LeufsTer11) c.2512_2525del (p.Val838LeufsTer11) c.2263_2276del (p.Val755LeufsTer11) c.2452_2465del (p.Val818LeufsTer11) c.2137_2150del (p.Val713LeufsTer11) c.2035_2048del (p.Val679LeufsTer11) c.2299_2312del (p.Val767LeufsTer11) c.2173_2186del (p.Val725LeufsTer11) n.2290_2303del n.2301_2314del | gnomAD v3 gnomAD v4 |
| 20 | g.32807854_32807860del | CA2360466216 | DNMT3B | c.*1464_*1470del (n.*1464_*1470del) c.2324_2330del (p.Val775AspfsTer7) c.*1067_*1073del (n.*1067_*1073del) c.*1256_*1262del (n.*1256_*1262del) c.2294_2300del (p.Val765AspfsTer7) n.538_544del c.2489_2495del (p.Val830AspfsTer7) c.2513_2519del (p.Val838AspfsTer7) c.2264_2270del (p.Val755AspfsTer7) c.2453_2459del (p.Val818AspfsTer7) c.2138_2144del (p.Val713AspfsTer7) c.2036_2042del (p.Val679AspfsTer7) c.2300_2306del (p.Val767AspfsTer7) c.2174_2180del (p.Val725AspfsTer7) n.2291_2297del n.2302_2308del | dbSNP |
| 20 | g.32807860G>A | CA118476 | DNMT3B | c.*1470G>A (n.*1470G>A) c.2330G>A (p.Arg777Gln) c.*1073G>A (n.*1073G>A) c.*1262G>A (n.*1262G>A) c.2300G>A (p.Arg767Gln) n.544G>A c.2495G>A (p.Arg832Gln) c.2519G>A (p.Arg840Gln) c.2270G>A (p.Arg757Gln) c.2459G>A (p.Arg820Gln) c.2144G>A (p.Arg715Gln) c.2042G>A (p.Arg681Gln) c.2306G>A (p.Arg769Gln) c.2180G>A (p.Arg727Gln) n.2297G>A n.2308G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.32807860G>C | CA408593158 | DNMT3B | c.*1470G>C (n.*1470G>C) c.2330G>C (p.Arg777Pro) c.*1073G>C (n.*1073G>C) c.*1262G>C (n.*1262G>C) c.2300G>C (p.Arg767Pro) n.544G>C c.2495G>C (p.Arg832Pro) c.2519G>C (p.Arg840Pro) c.2270G>C (p.Arg757Pro) c.2459G>C (p.Arg820Pro) c.2144G>C (p.Arg715Pro) c.2042G>C (p.Arg681Pro) c.2306G>C (p.Arg769Pro) c.2180G>C (p.Arg727Pro) n.2297G>C n.2308G>C | |
| 20 | g.32807860G= | CA2360466218 | DNMT3B | c.*1470G= (n.*1470G=) c.2330G= (p.Arg777=) c.*1073G= (n.*1073G=) c.*1262G= (n.*1262G=) c.2300G= (p.Arg767=) n.544G= c.2495G= (p.Arg832=) c.2519G= (p.Arg840=) c.2270G= (p.Arg757=) c.2459G= (p.Arg820=) c.2144G= (p.Arg715=) c.2042G= (p.Arg681=) c.2306G= (p.Arg769=) c.2180G= (p.Arg727=) n.2297G= n.2308G= | |
| 20 | g.32807860G>T | CA408593160 | DNMT3B | c.*1470G>T (n.*1470G>T) c.2330G>T (p.Arg777Leu) c.*1073G>T (n.*1073G>T) c.*1262G>T (n.*1262G>T) c.2300G>T (p.Arg767Leu) n.544G>T c.2495G>T (p.Arg832Leu) c.2519G>T (p.Arg840Leu) c.2270G>T (p.Arg757Leu) c.2459G>T (p.Arg820Leu) c.2144G>T (p.Arg715Leu) c.2042G>T (p.Arg681Leu) c.2306G>T (p.Arg769Leu) c.2180G>T (p.Arg727Leu) n.2297G>T n.2308G>T | |
| 20 | g.32807861A>C | CA510214537 | DNMT3B | c.*1471A>C (n.*1471A>C) c.2331A>C (p.Arg777=) c.*1074A>C (n.*1074A>C) c.*1263A>C (n.*1263A>C) c.2301A>C (p.Arg767=) n.545A>C c.2496A>C (p.Arg832=) c.2520A>C (p.Arg840=) c.2271A>C (p.Arg757=) c.2460A>C (p.Arg820=) c.2145A>C (p.Arg715=) c.2043A>C (p.Arg681=) c.2307A>C (p.Arg769=) c.2181A>C (p.Arg727=) n.2298A>C n.2309A>C | |
| 20 | g.32807861A>G | CA510214540 | DNMT3B | c.*1471A>G (n.*1471A>G) c.2331A>G (p.Arg777=) c.*1074A>G (n.*1074A>G) c.*1263A>G (n.*1263A>G) c.2301A>G (p.Arg767=) n.545A>G c.2496A>G (p.Arg832=) c.2520A>G (p.Arg840=) c.2271A>G (p.Arg757=) c.2460A>G (p.Arg820=) c.2145A>G (p.Arg715=) c.2043A>G (p.Arg681=) c.2307A>G (p.Arg769=) c.2181A>G (p.Arg727=) n.2298A>G n.2309A>G | |
| 20 | g.32807861A>T | CA510214539 | DNMT3B | c.*1471A>T (n.*1471A>T) c.2331A>T (p.Arg777=) c.*1074A>T (n.*1074A>T) c.*1263A>T (n.*1263A>T) c.2301A>T (p.Arg767=) n.545A>T c.2496A>T (p.Arg832=) c.2520A>T (p.Arg840=) c.2271A>T (p.Arg757=) c.2460A>T (p.Arg820=) c.2145A>T (p.Arg715=) c.2043A>T (p.Arg681=) c.2307A>T (p.Arg769=) c.2181A>T (p.Arg727=) n.2298A>T n.2309A>T | |
| 20 | g.32807862C>A | CA408593166 | DNMT3B | c.*1472C>A (n.*1472C>A) c.2332C>A (p.His778Asn) c.*1075C>A (n.*1075C>A) c.*1264C>A (n.*1264C>A) c.2302C>A (p.His768Asn) n.546C>A c.2497C>A (p.His833Asn) c.2521C>A (p.His841Asn) c.2272C>A (p.His758Asn) c.2461C>A (p.His821Asn) c.2146C>A (p.His716Asn) c.2044C>A (p.His682Asn) c.2308C>A (p.His770Asn) c.2182C>A (p.His728Asn) n.2299C>A n.2310C>A | |
| 20 | g.32807862C>G | CA408593164 | DNMT3B | c.*1472C>G (n.*1472C>G) c.2332C>G (p.His778Asp) c.*1075C>G (n.*1075C>G) c.*1264C>G (n.*1264C>G) c.2302C>G (p.His768Asp) n.546C>G c.2497C>G (p.His833Asp) c.2521C>G (p.His841Asp) c.2272C>G (p.His758Asp) c.2461C>G (p.His821Asp) c.2146C>G (p.His716Asp) c.2044C>G (p.His682Asp) c.2308C>G (p.His770Asp) c.2182C>G (p.His728Asp) n.2299C>G n.2310C>G | |
| 20 | g.32807862C>T | CA408593162 | DNMT3B | c.*1472C>T (n.*1472C>T) c.2332C>T (p.His778Tyr) c.*1075C>T (n.*1075C>T) c.*1264C>T (n.*1264C>T) c.2302C>T (p.His768Tyr) n.546C>T c.2497C>T (p.His833Tyr) c.2521C>T (p.His841Tyr) c.2272C>T (p.His758Tyr) c.2461C>T (p.His821Tyr) c.2146C>T (p.His716Tyr) c.2044C>T (p.His682Tyr) c.2308C>T (p.His770Tyr) c.2182C>T (p.His728Tyr) n.2299C>T n.2310C>T | |
| 20 | g.32807863A>C | CA408593169 | DNMT3B | c.*1473A>C (n.*1473A>C) c.2333A>C (p.His778Pro) c.*1076A>C (n.*1076A>C) c.*1265A>C (n.*1265A>C) c.2303A>C (p.His768Pro) n.547A>C c.2498A>C (p.His833Pro) c.2522A>C (p.His841Pro) c.2273A>C (p.His758Pro) c.2462A>C (p.His821Pro) c.2147A>C (p.His716Pro) c.2045A>C (p.His682Pro) c.2309A>C (p.His770Pro) c.2183A>C (p.His728Pro) n.2300A>C n.2311A>C | |
| 20 | g.32807863A>G | CA408593170 | DNMT3B | c.*1473A>G (n.*1473A>G) c.2333A>G (p.His778Arg) c.*1076A>G (n.*1076A>G) c.*1265A>G (n.*1265A>G) c.2303A>G (p.His768Arg) n.547A>G c.2498A>G (p.His833Arg) c.2522A>G (p.His841Arg) c.2273A>G (p.His758Arg) c.2462A>G (p.His821Arg) c.2147A>G (p.His716Arg) c.2045A>G (p.His682Arg) c.2309A>G (p.His770Arg) c.2183A>G (p.His728Arg) n.2300A>G n.2311A>G | |
| 20 | g.32807863A>T | CA408593171 | DNMT3B | c.*1473A>T (n.*1473A>T) c.2333A>T (p.His778Leu) c.*1076A>T (n.*1076A>T) c.*1265A>T (n.*1265A>T) c.2303A>T (p.His768Leu) n.547A>T c.2498A>T (p.His833Leu) c.2522A>T (p.His841Leu) c.2273A>T (p.His758Leu) c.2462A>T (p.His821Leu) c.2147A>T (p.His716Leu) c.2045A>T (p.His682Leu) c.2309A>T (p.His770Leu) c.2183A>T (p.His728Leu) n.2300A>T n.2311A>T | |
| 20 | g.32807864C>A | CA408593173 | DNMT3B | c.*1474C>A (n.*1474C>A) c.2334C>A (p.His778Gln) c.*1077C>A (n.*1077C>A) c.*1266C>A (n.*1266C>A) c.2304C>A (p.His768Gln) n.548C>A c.2499C>A (p.His833Gln) c.2523C>A (p.His841Gln) c.2274C>A (p.His758Gln) c.2463C>A (p.His821Gln) c.2148C>A (p.His716Gln) c.2046C>A (p.His682Gln) c.2310C>A (p.His770Gln) c.2184C>A (p.His728Gln) n.2301C>A n.2312C>A | gnomAD v4 |
| 20 | g.32807864C>G | CA408593175 | DNMT3B | c.*1474C>G (n.*1474C>G) c.2334C>G (p.His778Gln) c.*1077C>G (n.*1077C>G) c.*1266C>G (n.*1266C>G) c.2304C>G (p.His768Gln) n.548C>G c.2499C>G (p.His833Gln) c.2523C>G (p.His841Gln) c.2274C>G (p.His758Gln) c.2463C>G (p.His821Gln) c.2148C>G (p.His716Gln) c.2046C>G (p.His682Gln) c.2310C>G (p.His770Gln) c.2184C>G (p.His728Gln) n.2301C>G n.2312C>G | |
| 20 | g.32807864C>T | CA510214553 | DNMT3B | c.*1474C>T (n.*1474C>T) c.2334C>T (p.His778=) c.*1077C>T (n.*1077C>T) c.*1266C>T (n.*1266C>T) c.2304C>T (p.His768=) n.548C>T c.2499C>T (p.His833=) c.2523C>T (p.His841=) c.2274C>T (p.His758=) c.2463C>T (p.His821=) c.2148C>T (p.His716=) c.2046C>T (p.His682=) c.2310C>T (p.His770=) c.2184C>T (p.His728=) n.2301C>T n.2312C>T | ClinVar |
| 20 | g.32807865C>A | CA408593180 | DNMT3B | c.*1475C>A (n.*1475C>A) c.2335C>A (p.Leu779Ile) c.*1078C>A (n.*1078C>A) c.*1267C>A (n.*1267C>A) c.2305C>A (p.Leu769Ile) n.549C>A c.2500C>A (p.Leu834Ile) c.2524C>A (p.Leu842Ile) c.2275C>A (p.Leu759Ile) c.2464C>A (p.Leu822Ile) c.2149C>A (p.Leu717Ile) c.2047C>A (p.Leu683Ile) c.2311C>A (p.Leu771Ile) c.2185C>A (p.Leu729Ile) n.2302C>A n.2313C>A | |
| 20 | g.32807865C= | CA2360466219 | DNMT3B | c.*1475C= (n.*1475C=) c.2335C= (p.Leu779=) c.*1078C= (n.*1078C=) c.*1267C= (n.*1267C=) c.2305C= (p.Leu769=) n.549C= c.2500C= (p.Leu834=) c.2524C= (p.Leu842=) c.2275C= (p.Leu759=) c.2464C= (p.Leu822=) c.2149C= (p.Leu717=) c.2047C= (p.Leu683=) c.2311C= (p.Leu771=) c.2185C= (p.Leu729=) n.2302C= n.2313C= | |
| 20 | g.32807865C>G | CA408593178 | DNMT3B | c.*1475C>G (n.*1475C>G) c.2335C>G (p.Leu779Val) c.*1078C>G (n.*1078C>G) c.*1267C>G (n.*1267C>G) c.2305C>G (p.Leu769Val) n.549C>G c.2500C>G (p.Leu834Val) c.2524C>G (p.Leu842Val) c.2275C>G (p.Leu759Val) c.2464C>G (p.Leu822Val) c.2149C>G (p.Leu717Val) c.2047C>G (p.Leu683Val) c.2311C>G (p.Leu771Val) c.2185C>G (p.Leu729Val) n.2302C>G n.2313C>G | |
| 20 | g.32807865C>T | CA408593177 | DNMT3B | c.*1475C>T (n.*1475C>T) c.2335C>T (p.Leu779Phe) c.*1078C>T (n.*1078C>T) c.*1267C>T (n.*1267C>T) c.2305C>T (p.Leu769Phe) n.549C>T c.2500C>T (p.Leu834Phe) c.2524C>T (p.Leu842Phe) c.2275C>T (p.Leu759Phe) c.2464C>T (p.Leu822Phe) c.2149C>T (p.Leu717Phe) c.2047C>T (p.Leu683Phe) c.2311C>T (p.Leu771Phe) c.2185C>T (p.Leu729Phe) n.2302C>T n.2313C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.32807865_32807866insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT | CA634808410 | DNMT3B | c.*1475_*1476insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (n.*1475_*1476insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT) c.2335_2336insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu779HisfsTer11) c.*1078_*1079insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (n.*1078_*1079insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT) c.*1267_*1268insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (n.*1267_*1268insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT) c.2305_2306insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu769HisfsTer11) n.549_550insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT c.2500_2501insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu834HisfsTer11) c.2524_2525insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu842HisfsTer11) c.2275_2276insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu759HisfsTer11) c.2464_2465insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu822HisfsTer11) c.2149_2150insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu717HisfsTer11) c.2047_2048insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu683HisfsTer11) c.2311_2312insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu771HisfsTer11) c.2185_2186insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT (p.Leu729HisfsTer11) n.2302_2303insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT n.2313_2314insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT | dbSNP gnomAD v2 |
| 20 | g.32807866T>A | CA408593183 | DNMT3B | c.*1476T>A (n.*1476T>A) c.2336T>A (p.Leu779His) c.*1079T>A (n.*1079T>A) c.*1268T>A (n.*1268T>A) c.2306T>A (p.Leu769His) n.550T>A c.2501T>A (p.Leu834His) c.2525T>A (p.Leu842His) c.2276T>A (p.Leu759His) c.2465T>A (p.Leu822His) c.2150T>A (p.Leu717His) c.2048T>A (p.Leu683His) c.2312T>A (p.Leu771His) c.2186T>A (p.Leu729His) n.2303T>A n.2314T>A | |
| 20 | g.32807866T>C | CA408593184 | DNMT3B | c.*1476T>C (n.*1476T>C) c.2336T>C (p.Leu779Pro) c.*1079T>C (n.*1079T>C) c.*1268T>C (n.*1268T>C) c.2306T>C (p.Leu769Pro) n.550T>C c.2501T>C (p.Leu834Pro) c.2525T>C (p.Leu842Pro) c.2276T>C (p.Leu759Pro) c.2465T>C (p.Leu822Pro) c.2150T>C (p.Leu717Pro) c.2048T>C (p.Leu683Pro) c.2312T>C (p.Leu771Pro) c.2186T>C (p.Leu729Pro) n.2303T>C n.2314T>C | |
| 20 | g.32807866T>G | CA408593186 | DNMT3B | c.*1476T>G (n.*1476T>G) c.2336T>G (p.Leu779Arg) c.*1079T>G (n.*1079T>G) c.*1268T>G (n.*1268T>G) c.2306T>G (p.Leu769Arg) n.550T>G c.2501T>G (p.Leu834Arg) c.2525T>G (p.Leu842Arg) c.2276T>G (p.Leu759Arg) c.2465T>G (p.Leu822Arg) c.2150T>G (p.Leu717Arg) c.2048T>G (p.Leu683Arg) c.2312T>G (p.Leu771Arg) c.2186T>G (p.Leu729Arg) n.2303T>G n.2314T>G | |
| 20 | g.32807867C>A | CA510214563 | DNMT3B | c.*1477C>A (n.*1477C>A) c.2337C>A (p.Leu779=) c.*1080C>A (n.*1080C>A) c.*1269C>A (n.*1269C>A) c.2307C>A (p.Leu769=) n.551C>A c.2502C>A (p.Leu834=) c.2526C>A (p.Leu842=) c.2277C>A (p.Leu759=) c.2466C>A (p.Leu822=) c.2151C>A (p.Leu717=) c.2049C>A (p.Leu683=) c.2313C>A (p.Leu771=) c.2187C>A (p.Leu729=) n.2304C>A n.2315C>A | |
| 20 | g.32807867C>G | CA510214564 | DNMT3B | c.*1477C>G (n.*1477C>G) c.2337C>G (p.Leu779=) c.*1080C>G (n.*1080C>G) c.*1269C>G (n.*1269C>G) c.2307C>G (p.Leu769=) n.551C>G c.2502C>G (p.Leu834=) c.2526C>G (p.Leu842=) c.2277C>G (p.Leu759=) c.2466C>G (p.Leu822=) c.2151C>G (p.Leu717=) c.2049C>G (p.Leu683=) c.2313C>G (p.Leu771=) c.2187C>G (p.Leu729=) n.2304C>G n.2315C>G | |
| 20 | g.32807867C>T | CA510214566 | DNMT3B | c.*1477C>T (n.*1477C>T) c.2337C>T (p.Leu779=) c.*1080C>T (n.*1080C>T) c.*1269C>T (n.*1269C>T) c.2307C>T (p.Leu769=) n.551C>T c.2502C>T (p.Leu834=) c.2526C>T (p.Leu842=) c.2277C>T (p.Leu759=) c.2466C>T (p.Leu822=) c.2151C>T (p.Leu717=) c.2049C>T (p.Leu683=) c.2313C>T (p.Leu771=) c.2187C>T (p.Leu729=) n.2304C>T n.2315C>T | gnomAD v4 |
| 20 | g.32807867dup | CA2652423874 | DNMT3B | c.*1477dup (n.*1477dup) c.2337dup (p.Phe780LeufsTer11) c.*1080dup (n.*1080dup) c.*1269dup (n.*1269dup) c.2307dup (p.Phe770LeufsTer11) n.551dup c.2502dup (p.Phe835LeufsTer11) c.2526dup (p.Phe843LeufsTer11) c.2277dup (p.Phe760LeufsTer11) c.2466dup (p.Phe823LeufsTer11) c.2151dup (p.Phe718LeufsTer11) c.2049dup (p.Phe684LeufsTer11) c.2313dup (p.Phe772LeufsTer11) c.2187dup (p.Phe730LeufsTer11) n.2304dup n.2315dup | gnomAD v4 |
| 20 | g.32807868T>A | CA408593188 | DNMT3B | c.*1478T>A (n.*1478T>A) c.2338T>A (p.Phe780Ile) c.*1081T>A (n.*1081T>A) c.*1270T>A (n.*1270T>A) c.2308T>A (p.Phe770Ile) n.552T>A c.2503T>A (p.Phe835Ile) c.2527T>A (p.Phe843Ile) c.2278T>A (p.Phe760Ile) c.2467T>A (p.Phe823Ile) c.2152T>A (p.Phe718Ile) c.2050T>A (p.Phe684Ile) c.2314T>A (p.Phe772Ile) c.2188T>A (p.Phe730Ile) n.2305T>A n.2316T>A | |
| 20 | g.32807868T>C | CA408593190 | DNMT3B | c.*1478T>C (n.*1478T>C) c.2338T>C (p.Phe780Leu) c.*1081T>C (n.*1081T>C) c.*1270T>C (n.*1270T>C) c.2308T>C (p.Phe770Leu) n.552T>C c.2503T>C (p.Phe835Leu) c.2527T>C (p.Phe843Leu) c.2278T>C (p.Phe760Leu) c.2467T>C (p.Phe823Leu) c.2152T>C (p.Phe718Leu) c.2050T>C (p.Phe684Leu) c.2314T>C (p.Phe772Leu) c.2188T>C (p.Phe730Leu) n.2305T>C n.2316T>C | |
| 20 | g.32807868T>G | CA408593192 | DNMT3B | c.*1478T>G (n.*1478T>G) c.2338T>G (p.Phe780Val) c.*1081T>G (n.*1081T>G) c.*1270T>G (n.*1270T>G) c.2308T>G (p.Phe770Val) n.552T>G c.2503T>G (p.Phe835Val) c.2527T>G (p.Phe843Val) c.2278T>G (p.Phe760Val) c.2467T>G (p.Phe823Val) c.2152T>G (p.Phe718Val) c.2050T>G (p.Phe684Val) c.2314T>G (p.Phe772Val) c.2188T>G (p.Phe730Val) n.2305T>G n.2316T>G | |
| 20 | g.32807868_32807869insGAAG | CA2577367915 | DNMT3B | c.*1478_*1479insGAAG (n.*1478_*1479insGAAG) c.2338_2339insGAAG (p.Phe780Ter) c.*1081_*1082insGAAG (n.*1081_*1082insGAAG) c.*1270_*1271insGAAG (n.*1270_*1271insGAAG) c.2308_2309insGAAG (p.Phe770Ter) n.552_553insGAAG c.2503_2504insGAAG (p.Phe835Ter) c.2527_2528insGAAG (p.Phe843Ter) c.2278_2279insGAAG (p.Phe760Ter) c.2467_2468insGAAG (p.Phe823Ter) c.2152_2153insGAAG (p.Phe718Ter) c.2050_2051insGAAG (p.Phe684Ter) c.2314_2315insGAAG (p.Phe772Ter) c.2188_2189insGAAG (p.Phe730Ter) n.2305_2306insGAAG n.2316_2317insGAAG | |
| 20 | g.32807869T>A | CA408593197 | DNMT3B | c.*1479T>A (n.*1479T>A) c.2339T>A (p.Phe780Tyr) c.*1082T>A (n.*1082T>A) c.*1271T>A (n.*1271T>A) c.2309T>A (p.Phe770Tyr) n.553T>A c.2504T>A (p.Phe835Tyr) c.2528T>A (p.Phe843Tyr) c.2279T>A (p.Phe760Tyr) c.2468T>A (p.Phe823Tyr) c.2153T>A (p.Phe718Tyr) c.2051T>A (p.Phe684Tyr) c.2315T>A (p.Phe772Tyr) c.2189T>A (p.Phe730Tyr) n.2306T>A n.2317T>A | |
| 20 | g.32807869T>C | CA408593194 | DNMT3B | c.*1479T>C (n.*1479T>C) c.2339T>C (p.Phe780Ser) c.*1082T>C (n.*1082T>C) c.*1271T>C (n.*1271T>C) c.2309T>C (p.Phe770Ser) n.553T>C c.2504T>C (p.Phe835Ser) c.2528T>C (p.Phe843Ser) c.2279T>C (p.Phe760Ser) c.2468T>C (p.Phe823Ser) c.2153T>C (p.Phe718Ser) c.2051T>C (p.Phe684Ser) c.2315T>C (p.Phe772Ser) c.2189T>C (p.Phe730Ser) n.2306T>C n.2317T>C | |
| 20 | g.32807869T>G | CA408593196 | DNMT3B | c.*1479T>G (n.*1479T>G) c.2339T>G (p.Phe780Cys) c.*1082T>G (n.*1082T>G) c.*1271T>G (n.*1271T>G) c.2309T>G (p.Phe770Cys) n.553T>G c.2504T>G (p.Phe835Cys) c.2528T>G (p.Phe843Cys) c.2279T>G (p.Phe760Cys) c.2468T>G (p.Phe823Cys) c.2153T>G (p.Phe718Cys) c.2051T>G (p.Phe684Cys) c.2315T>G (p.Phe772Cys) c.2189T>G (p.Phe730Cys) n.2306T>G n.2317T>G | |
| 20 | g.32807870C>A | CA9810928 | DNMT3B | c.*1480C>A (n.*1480C>A) c.2340C>A (p.Phe780Leu) c.*1083C>A (n.*1083C>A) c.*1272C>A (n.*1272C>A) c.2310C>A (p.Phe770Leu) n.554C>A c.2505C>A (p.Phe835Leu) c.2529C>A (p.Phe843Leu) c.2280C>A (p.Phe760Leu) c.2469C>A (p.Phe823Leu) c.2154C>A (p.Phe718Leu) c.2052C>A (p.Phe684Leu) c.2316C>A (p.Phe772Leu) c.2190C>A (p.Phe730Leu) n.2307C>A n.2318C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.32807870C= | CA2360466220 | DNMT3B | c.*1480C= (n.*1480C=) c.2340C= (p.Phe780=) c.*1083C= (n.*1083C=) c.*1272C= (n.*1272C=) c.2310C= (p.Phe770=) n.554C= c.2505C= (p.Phe835=) c.2529C= (p.Phe843=) c.2280C= (p.Phe760=) c.2469C= (p.Phe823=) c.2154C= (p.Phe718=) c.2052C= (p.Phe684=) c.2316C= (p.Phe772=) c.2190C= (p.Phe730=) n.2307C= n.2318C= | |
| 20 | g.32807870C>G | CA408593198 | DNMT3B | c.*1480C>G (n.*1480C>G) c.2340C>G (p.Phe780Leu) c.*1083C>G (n.*1083C>G) c.*1272C>G (n.*1272C>G) c.2310C>G (p.Phe770Leu) n.554C>G c.2505C>G (p.Phe835Leu) c.2529C>G (p.Phe843Leu) c.2280C>G (p.Phe760Leu) c.2469C>G (p.Phe823Leu) c.2154C>G (p.Phe718Leu) c.2052C>G (p.Phe684Leu) c.2316C>G (p.Phe772Leu) c.2190C>G (p.Phe730Leu) n.2307C>G n.2318C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.32807870C>T | CA9810927 | DNMT3B | c.*1480C>T (n.*1480C>T) c.2340C>T (p.Phe780=) c.*1083C>T (n.*1083C>T) c.*1272C>T (n.*1272C>T) c.2310C>T (p.Phe770=) n.554C>T c.2505C>T (p.Phe835=) c.2529C>T (p.Phe843=) c.2280C>T (p.Phe760=) c.2469C>T (p.Phe823=) c.2154C>T (p.Phe718=) c.2052C>T (p.Phe684=) c.2316C>T (p.Phe772=) c.2190C>T (p.Phe730=) n.2307C>T n.2318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.32807870dup | CA2652423883 | DNMT3B | c.*1480dup (n.*1480dup) c.2340dup (p.Ala781ArgfsTer10) c.*1083dup (n.*1083dup) c.*1272dup (n.*1272dup) c.2310dup (p.Ala771ArgfsTer10) n.554dup c.2505dup (p.Ala836ArgfsTer10) c.2529dup (p.Ala844ArgfsTer10) c.2280dup (p.Ala761ArgfsTer10) c.2469dup (p.Ala824ArgfsTer10) c.2154dup (p.Ala719ArgfsTer10) c.2052dup (p.Ala685ArgfsTer10) c.2316dup (p.Ala773ArgfsTer10) c.2190dup (p.Ala731ArgfsTer10) n.2307dup n.2318dup | gnomAD v4 |
| 20 | g.32807871G>A | CA408593201 | DNMT3B | c.*1481G>A (n.*1481G>A) c.2341G>A (p.Ala781Thr) c.*1084G>A (n.*1084G>A) c.*1273G>A (n.*1273G>A) c.2311G>A (p.Ala771Thr) n.555G>A c.2506G>A (p.Ala836Thr) c.2530G>A (p.Ala844Thr) c.2281G>A (p.Ala761Thr) c.2470G>A (p.Ala824Thr) c.2155G>A (p.Ala719Thr) c.2053G>A (p.Ala685Thr) c.2317G>A (p.Ala773Thr) c.2191G>A (p.Ala731Thr) n.2308G>A n.2319G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 20 | g.32807871G>C | CA408593202 | DNMT3B | c.*1481G>C (n.*1481G>C) c.2341G>C (p.Ala781Pro) c.*1084G>C (n.*1084G>C) c.*1273G>C (n.*1273G>C) c.2311G>C (p.Ala771Pro) n.555G>C c.2506G>C (p.Ala836Pro) c.2530G>C (p.Ala844Pro) c.2281G>C (p.Ala761Pro) c.2470G>C (p.Ala824Pro) c.2155G>C (p.Ala719Pro) c.2053G>C (p.Ala685Pro) c.2317G>C (p.Ala773Pro) c.2191G>C (p.Ala731Pro) n.2308G>C n.2319G>C | |
| 20 | g.32807871G= | CA2360466221 | DNMT3B | c.*1481G= (n.*1481G=) c.2341G= (p.Ala781=) c.*1084G= (n.*1084G=) c.*1273G= (n.*1273G=) c.2311G= (p.Ala771=) n.555G= c.2506G= (p.Ala836=) c.2530G= (p.Ala844=) c.2281G= (p.Ala761=) c.2470G= (p.Ala824=) c.2155G= (p.Ala719=) c.2053G= (p.Ala685=) c.2317G= (p.Ala773=) c.2191G= (p.Ala731=) n.2308G= n.2319G= | |
| 20 | g.32807871G>T | CA408593204 | DNMT3B | c.*1481G>T (n.*1481G>T) c.2341G>T (p.Ala781Ser) c.*1084G>T (n.*1084G>T) c.*1273G>T (n.*1273G>T) c.2311G>T (p.Ala771Ser) n.555G>T c.2506G>T (p.Ala836Ser) c.2530G>T (p.Ala844Ser) c.2281G>T (p.Ala761Ser) c.2470G>T (p.Ala824Ser) c.2155G>T (p.Ala719Ser) c.2053G>T (p.Ala685Ser) c.2317G>T (p.Ala773Ser) c.2191G>T (p.Ala731Ser) n.2308G>T n.2319G>T | |
| 20 | g.32807872C>A | CA408593205 | DNMT3B | c.*1482C>A (n.*1482C>A) c.2342C>A (p.Ala781Asp) c.*1085C>A (n.*1085C>A) c.*1274C>A (n.*1274C>A) c.2312C>A (p.Ala771Asp) n.556C>A c.2507C>A (p.Ala836Asp) c.2531C>A (p.Ala844Asp) c.2282C>A (p.Ala761Asp) c.2471C>A (p.Ala824Asp) c.2156C>A (p.Ala719Asp) c.2054C>A (p.Ala685Asp) c.2318C>A (p.Ala773Asp) c.2192C>A (p.Ala731Asp) n.2309C>A n.2320C>A | |
| 20 | g.32807872C>G | CA408593206 | DNMT3B | c.*1482C>G (n.*1482C>G) c.2342C>G (p.Ala781Gly) c.*1085C>G (n.*1085C>G) c.*1274C>G (n.*1274C>G) c.2312C>G (p.Ala771Gly) n.556C>G c.2507C>G (p.Ala836Gly) c.2531C>G (p.Ala844Gly) c.2282C>G (p.Ala761Gly) c.2471C>G (p.Ala824Gly) c.2156C>G (p.Ala719Gly) c.2054C>G (p.Ala685Gly) c.2318C>G (p.Ala773Gly) c.2192C>G (p.Ala731Gly) n.2309C>G n.2320C>G | |
| 20 | g.32807872C>T | CA408593208 | DNMT3B | c.*1482C>T (n.*1482C>T) c.2342C>T (p.Ala781Val) c.*1085C>T (n.*1085C>T) c.*1274C>T (n.*1274C>T) c.2312C>T (p.Ala771Val) n.556C>T c.2507C>T (p.Ala836Val) c.2531C>T (p.Ala844Val) c.2282C>T (p.Ala761Val) c.2471C>T (p.Ala824Val) c.2156C>T (p.Ala719Val) c.2054C>T (p.Ala685Val) c.2318C>T (p.Ala773Val) c.2192C>T (p.Ala731Val) n.2309C>T n.2320C>T | gnomAD v4 |