Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47122193A=CA1362417981SETD2c.2311T= (p.Ser771=)
c.2344T= (p.Ser782=)
c.323T=
c.384T=
c.607T= (p.Ser203=)
c.72-24112T= (n.72-24112T=)
c.2443T= (p.Ser815=)
c.2058T=
c.1595T=
c.1343T=
c.2521T= (p.Ser841=)
c.2467T= (p.Ser823=)
n.2536T=
n.2624T=
n.2496T=
n.2372T=
n.2632T=
3g.47122193A>CCA352526449SETD2c.2311T>G (p.Ser771Ala)
c.2344T>G (p.Ser782Ala)
c.323T>G
c.384T>G
c.607T>G (p.Ser203Ala)
c.72-24112T>G (n.72-24112T>G)
c.2443T>G (p.Ser815Ala)
c.2058T>G
c.1595T>G
c.1343T>G
c.2521T>G (p.Ser841Ala)
c.2467T>G (p.Ser823Ala)
n.2536T>G
n.2624T>G
n.2496T>G
n.2372T>G
n.2632T>G
 dbSNP
3g.47122193A>GCA352526451SETD2c.2311T>C (p.Ser771Pro)
c.2344T>C (p.Ser782Pro)
c.323T>C
c.384T>C
c.607T>C (p.Ser203Pro)
c.72-24112T>C (n.72-24112T>C)
c.2443T>C (p.Ser815Pro)
c.2058T>C
c.1595T>C
c.1343T>C
c.2521T>C (p.Ser841Pro)
c.2467T>C (p.Ser823Pro)
n.2536T>C
n.2624T>C
n.2496T>C
n.2372T>C
n.2632T>C
 dbSNP
3g.47122193A>TCA352526450SETD2c.2311T>A (p.Ser771Thr)
c.2344T>A (p.Ser782Thr)
c.323T>A
c.384T>A
c.607T>A (p.Ser203Thr)
c.72-24112T>A (n.72-24112T>A)
c.2443T>A (p.Ser815Thr)
c.2058T>A
c.1595T>A
c.1343T>A
c.2521T>A (p.Ser841Thr)
c.2467T>A (p.Ser823Thr)
n.2536T>A
n.2624T>A
n.2496T>A
n.2372T>A
n.2632T>A
 dbSNP
3g.47122194A=CA1362417983SETD2c.2310T= (p.Pro770=)
c.2343T= (p.Pro781=)
c.322T=
c.383T=
c.606T= (p.Pro202=)
c.72-24113T= (n.72-24113T=)
c.2442T= (p.Pro814=)
c.2057T=
c.1594T=
c.1342T=
c.2520T= (p.Pro840=)
c.2466T= (p.Pro822=)
n.2535T=
n.2623T=
n.2495T=
n.2371T=
n.2631T=
3g.47122194A>CCA433601966SETD2c.2310T>G (p.Pro770=)
c.2343T>G (p.Pro781=)
c.322T>G
c.383T>G
c.606T>G (p.Pro202=)
c.72-24113T>G (n.72-24113T>G)
c.2442T>G (p.Pro814=)
c.2057T>G
c.1594T>G
c.1342T>G
c.2520T>G (p.Pro840=)
c.2466T>G (p.Pro822=)
n.2535T>G
n.2623T>G
n.2495T>G
n.2371T>G
n.2631T>G
3g.47122194A>GCA433601965SETD2c.2310T>C (p.Pro770=)
c.2343T>C (p.Pro781=)
c.322T>C
c.383T>C
c.606T>C (p.Pro202=)
c.72-24113T>C (n.72-24113T>C)
c.2442T>C (p.Pro814=)
c.2057T>C
c.1594T>C
c.1342T>C
c.2520T>C (p.Pro840=)
c.2466T>C (p.Pro822=)
n.2535T>C
n.2623T>C
n.2495T>C
n.2371T>C
n.2631T>C
 dbSNP
3g.47122194A>TCA433601964SETD2c.2310T>A (p.Pro770=)
c.2343T>A (p.Pro781=)
c.322T>A
c.383T>A
c.606T>A (p.Pro202=)
c.72-24113T>A (n.72-24113T>A)
c.2442T>A (p.Pro814=)
c.2057T>A
c.1594T>A
c.1342T>A
c.2520T>A (p.Pro840=)
c.2466T>A (p.Pro822=)
n.2535T>A
n.2623T>A
n.2495T>A
n.2371T>A
n.2631T>A
 dbSNP
3g.47122195G>ACA2363533SETD2c.2309C>T (p.Pro770Leu)
c.2342C>T (p.Pro781Leu)
c.321C>T
c.382C>T
c.605C>T (p.Pro202Leu)
c.72-24114C>T (n.72-24114C>T)
c.2441C>T (p.Pro814Leu)
c.2056C>T
c.1593C>T
c.1341C>T
c.2519C>T (p.Pro840Leu)
c.2465C>T (p.Pro822Leu)
n.2534C>T
n.2622C>T
n.2494C>T
n.2370C>T
n.2630C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122195G>CCA352526454SETD2c.2309C>G (p.Pro770Arg)
c.2342C>G (p.Pro781Arg)
c.321C>G
c.382C>G
c.605C>G (p.Pro202Arg)
c.72-24114C>G (n.72-24114C>G)
c.2441C>G (p.Pro814Arg)
c.2056C>G
c.1593C>G
c.1341C>G
c.2519C>G (p.Pro840Arg)
c.2465C>G (p.Pro822Arg)
n.2534C>G
n.2622C>G
n.2494C>G
n.2370C>G
n.2630C>G
 dbSNP
3g.47122195G=CA1362417985SETD2c.2309C= (p.Pro770=)
c.2342C= (p.Pro781=)
c.321C=
c.382C=
c.605C= (p.Pro202=)
c.72-24114C= (n.72-24114C=)
c.2441C= (p.Pro814=)
c.2056C=
c.1593C=
c.1341C=
c.2519C= (p.Pro840=)
c.2465C= (p.Pro822=)
n.2534C=
n.2622C=
n.2494C=
n.2370C=
n.2630C=
3g.47122195G>TCA352526455SETD2c.2309C>A (p.Pro770His)
c.2342C>A (p.Pro781His)
c.321C>A
c.382C>A
c.605C>A (p.Pro202His)
c.72-24114C>A (n.72-24114C>A)
c.2441C>A (p.Pro814His)
c.2056C>A
c.1593C>A
c.1341C>A
c.2519C>A (p.Pro840His)
c.2465C>A (p.Pro822His)
n.2534C>A
n.2622C>A
n.2494C>A
n.2370C>A
n.2630C>A
 dbSNP
3g.47122196G>ACA352526457SETD2c.2308C>T (p.Pro770Ser)
c.2341C>T (p.Pro781Ser)
c.320C>T
c.381C>T
c.604C>T (p.Pro202Ser)
c.72-24115C>T (n.72-24115C>T)
c.2440C>T (p.Pro814Ser)
c.2055C>T
c.1592C>T
c.1340C>T
c.2518C>T (p.Pro840Ser)
c.2464C>T (p.Pro822Ser)
n.2533C>T
n.2621C>T
n.2493C>T
n.2369C>T
n.2629C>T
 dbSNP gnomAD v4
3g.47122196G>CCA352526458SETD2c.2308C>G (p.Pro770Ala)
c.2341C>G (p.Pro781Ala)
c.320C>G
c.381C>G
c.604C>G (p.Pro202Ala)
c.72-24115C>G (n.72-24115C>G)
c.2440C>G (p.Pro814Ala)
c.2055C>G
c.1592C>G
c.1340C>G
c.2518C>G (p.Pro840Ala)
c.2464C>G (p.Pro822Ala)
n.2533C>G
n.2621C>G
n.2493C>G
n.2369C>G
n.2629C>G
 dbSNP
3g.47122196G=CA1362417987SETD2c.2308C= (p.Pro770=)
c.2341C= (p.Pro781=)
c.320C=
c.381C=
c.604C= (p.Pro202=)
c.72-24115C= (n.72-24115C=)
c.2440C= (p.Pro814=)
c.2055C=
c.1592C=
c.1340C=
c.2518C= (p.Pro840=)
c.2464C= (p.Pro822=)
n.2533C=
n.2621C=
n.2493C=
n.2369C=
n.2629C=
3g.47122196G>TCA352526460SETD2c.2308C>A (p.Pro770Thr)
c.2341C>A (p.Pro781Thr)
c.320C>A
c.381C>A
c.604C>A (p.Pro202Thr)
c.72-24115C>A (n.72-24115C>A)
c.2440C>A (p.Pro814Thr)
c.2055C>A
c.1592C>A
c.1340C>A
c.2518C>A (p.Pro840Thr)
c.2464C>A (p.Pro822Thr)
n.2533C>A
n.2621C>A
n.2493C>A
n.2369C>A
n.2629C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47122197C>ACA352526462SETD2c.2307G>T (p.Glu769Asp)
c.2340G>T (p.Glu780Asp)
c.319G>T
c.380G>T
c.603G>T (p.Glu201Asp)
c.72-24116G>T (n.72-24116G>T)
c.2439G>T (p.Glu813Asp)
c.2054G>T
c.1591G>T
c.1339G>T
c.2517G>T (p.Glu839Asp)
c.2463G>T (p.Glu821Asp)
n.2532G>T
n.2620G>T
n.2492G>T
n.2368G>T
n.2628G>T
 dbSNP
3g.47122197C>GCA352526464SETD2c.2307G>C (p.Glu769Asp)
c.2340G>C (p.Glu780Asp)
c.319G>C
c.380G>C
c.603G>C (p.Glu201Asp)
c.72-24116G>C (n.72-24116G>C)
c.2439G>C (p.Glu813Asp)
c.2054G>C
c.1591G>C
c.1339G>C
c.2517G>C (p.Glu839Asp)
c.2463G>C (p.Glu821Asp)
n.2532G>C
n.2620G>C
n.2492G>C
n.2368G>C
n.2628G>C
 dbSNP
3g.47122197C>TCA433601970SETD2c.2307G>A (p.Glu769=)
c.2340G>A (p.Glu780=)
c.319G>A
c.380G>A
c.603G>A (p.Glu201=)
c.72-24116G>A (n.72-24116G>A)
c.2439G>A (p.Glu813=)
c.2054G>A
c.1591G>A
c.1339G>A
c.2517G>A (p.Glu839=)
c.2463G>A (p.Glu821=)
n.2532G>A
n.2620G>A
n.2492G>A
n.2368G>A
n.2628G>A
 dbSNP
3g.47122198T>ACA352526465SETD2c.2306A>T (p.Glu769Val)
c.2339A>T (p.Glu780Val)
c.318A>T
c.379A>T
c.602A>T (p.Glu201Val)
c.72-24117A>T (n.72-24117A>T)
c.2438A>T (p.Glu813Val)
c.2053A>T
c.1590A>T
c.1338A>T
c.2516A>T (p.Glu839Val)
c.2462A>T (p.Glu821Val)
n.2531A>T
n.2619A>T
n.2491A>T
n.2367A>T
n.2627A>T
 dbSNP
3g.47122198T>CCA352526466SETD2c.2306A>G (p.Glu769Gly)
c.2339A>G (p.Glu780Gly)
c.318A>G
c.379A>G
c.602A>G (p.Glu201Gly)
c.72-24117A>G (n.72-24117A>G)
c.2438A>G (p.Glu813Gly)
c.2053A>G
c.1590A>G
c.1338A>G
c.2516A>G (p.Glu839Gly)
c.2462A>G (p.Glu821Gly)
n.2531A>G
n.2619A>G
n.2491A>G
n.2367A>G
n.2627A>G
 dbSNP
3g.47122198T>GCA352526467SETD2c.2306A>C (p.Glu769Ala)
c.2339A>C (p.Glu780Ala)
c.318A>C
c.379A>C
c.602A>C (p.Glu201Ala)
c.72-24117A>C (n.72-24117A>C)
c.2438A>C (p.Glu813Ala)
c.2053A>C
c.1590A>C
c.1338A>C
c.2516A>C (p.Glu839Ala)
c.2462A>C (p.Glu821Ala)
n.2531A>C
n.2619A>C
n.2491A>C
n.2367A>C
n.2627A>C
3g.47122199C>ACA352526468SETD2c.2305G>T (p.Glu769Ter)
c.2338G>T (p.Glu780Ter)
c.317G>T
c.378G>T
c.601G>T (p.Glu201Ter)
c.72-24118G>T (n.72-24118G>T)
c.2437G>T (p.Glu813Ter)
c.2052G>T
c.1589G>T
c.1337G>T
c.2515G>T (p.Glu839Ter)
c.2461G>T (p.Glu821Ter)
n.2530G>T
n.2618G>T
n.2490G>T
n.2366G>T
n.2626G>T
3g.47122199C=CA1362417989SETD2c.2305G= (p.Glu769=)
c.2338G= (p.Glu780=)
c.317G=
c.378G=
c.601G= (p.Glu201=)
c.72-24118G= (n.72-24118G=)
c.2437G= (p.Glu813=)
c.2052G=
c.1589G=
c.1337G=
c.2515G= (p.Glu839=)
c.2461G= (p.Glu821=)
n.2530G=
n.2618G=
n.2490G=
n.2366G=
n.2626G=
3g.47122199C>GCA352526469SETD2c.2305G>C (p.Glu769Gln)
c.2338G>C (p.Glu780Gln)
c.317G>C
c.378G>C
c.601G>C (p.Glu201Gln)
c.72-24118G>C (n.72-24118G>C)
c.2437G>C (p.Glu813Gln)
c.2052G>C
c.1589G>C
c.1337G>C
c.2515G>C (p.Glu839Gln)
c.2461G>C (p.Glu821Gln)
n.2530G>C
n.2618G>C
n.2490G>C
n.2366G>C
n.2626G>C
 dbSNP
3g.47122199C>TCA2363534SETD2c.2305G>A (p.Glu769Lys)
c.2338G>A (p.Glu780Lys)
c.317G>A
c.378G>A
c.601G>A (p.Glu201Lys)
c.72-24118G>A (n.72-24118G>A)
c.2437G>A (p.Glu813Lys)
c.2052G>A
c.1589G>A
c.1337G>A
c.2515G>A (p.Glu839Lys)
c.2461G>A (p.Glu821Lys)
n.2530G>A
n.2618G>A
n.2490G>A
n.2366G>A
n.2626G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47122200A=CA1362417991SETD2c.2304T= (p.Ile768=)
c.2337T= (p.Ile779=)
c.316T=
c.377T=
c.600T= (p.Ile200=)
c.72-24119T= (n.72-24119T=)
c.2436T= (p.Ile812=)
c.2051T=
c.1588T=
c.1336T=
c.2514T= (p.Ile838=)
c.2460T= (p.Ile820=)
n.2529T=
n.2617T=
n.2489T=
n.2365T=
n.2625T=
3g.47122200A>CCA2363535SETD2c.2304T>G (p.Ile768Met)
c.2337T>G (p.Ile779Met)
c.316T>G
c.377T>G
c.600T>G (p.Ile200Met)
c.72-24119T>G (n.72-24119T>G)
c.2436T>G (p.Ile812Met)
c.2051T>G
c.1588T>G
c.1336T>G
c.2514T>G (p.Ile838Met)
c.2460T>G (p.Ile820Met)
n.2529T>G
n.2617T>G
n.2489T>G
n.2365T>G
n.2625T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47122200A>GCA433601974SETD2c.2304T>C (p.Ile768=)
c.2337T>C (p.Ile779=)
c.316T>C
c.377T>C
c.600T>C (p.Ile200=)
c.72-24119T>C (n.72-24119T>C)
c.2436T>C (p.Ile812=)
c.2051T>C
c.1588T>C
c.1336T>C
c.2514T>C (p.Ile838=)
c.2460T>C (p.Ile820=)
n.2529T>C
n.2617T>C
n.2489T>C
n.2365T>C
n.2625T>C
 dbSNP
3g.47122200A>TCA433601975SETD2c.2304T>A (p.Ile768=)
c.2337T>A (p.Ile779=)
c.316T>A
c.377T>A
c.600T>A (p.Ile200=)
c.72-24119T>A (n.72-24119T>A)
c.2436T>A (p.Ile812=)
c.2051T>A
c.1588T>A
c.1336T>A
c.2514T>A (p.Ile838=)
c.2460T>A (p.Ile820=)
n.2529T>A
n.2617T>A
n.2489T>A
n.2365T>A
n.2625T>A
 dbSNP
3g.47122201A=CA1362417994SETD2c.2303T= (p.Ile768=)
c.2336T= (p.Ile779=)
c.315T=
c.376T=
c.599T= (p.Ile200=)
c.72-24120T= (n.72-24120T=)
c.2435T= (p.Ile812=)
c.2050T=
c.1587T=
c.1335T=
c.2513T= (p.Ile838=)
c.2459T= (p.Ile820=)
n.2528T=
n.2616T=
n.2488T=
n.2364T=
n.2624T=
3g.47122201A>CCA352526470SETD2c.2303T>G (p.Ile768Ser)
c.2336T>G (p.Ile779Ser)
c.315T>G
c.376T>G
c.599T>G (p.Ile200Ser)
c.72-24120T>G (n.72-24120T>G)
c.2435T>G (p.Ile812Ser)
c.2050T>G
c.1587T>G
c.1335T>G
c.2513T>G (p.Ile838Ser)
c.2459T>G (p.Ile820Ser)
n.2528T>G
n.2616T>G
n.2488T>G
n.2364T>G
n.2624T>G
 gnomAD v4
3g.47122201A>GCA2363536SETD2c.2303T>C (p.Ile768Thr)
c.2336T>C (p.Ile779Thr)
c.315T>C
c.376T>C
c.599T>C (p.Ile200Thr)
c.72-24120T>C (n.72-24120T>C)
c.2435T>C (p.Ile812Thr)
c.2050T>C
c.1587T>C
c.1335T>C
c.2513T>C (p.Ile838Thr)
c.2459T>C (p.Ile820Thr)
n.2528T>C
n.2616T>C
n.2488T>C
n.2364T>C
n.2624T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122201A>TCA352526471SETD2c.2303T>A (p.Ile768Asn)
c.2336T>A (p.Ile779Asn)
c.315T>A
c.376T>A
c.599T>A (p.Ile200Asn)
c.72-24120T>A (n.72-24120T>A)
c.2435T>A (p.Ile812Asn)
c.2050T>A
c.1587T>A
c.1335T>A
c.2513T>A (p.Ile838Asn)
c.2459T>A (p.Ile820Asn)
n.2528T>A
n.2616T>A
n.2488T>A
n.2364T>A
n.2624T>A
 dbSNP
3g.47122202T>ACA352526472SETD2c.2302A>T (p.Ile768Phe)
c.2335A>T (p.Ile779Phe)
c.314A>T
c.375A>T
c.598A>T (p.Ile200Phe)
c.72-24121A>T (n.72-24121A>T)
c.2434A>T (p.Ile812Phe)
c.2049A>T
c.1586A>T
c.1334A>T
c.2512A>T (p.Ile838Phe)
c.2458A>T (p.Ile820Phe)
n.2527A>T
n.2615A>T
n.2487A>T
n.2363A>T
n.2623A>T
 dbSNP
3g.47122202T>CCA352526473SETD2c.2302A>G (p.Ile768Val)
c.2335A>G (p.Ile779Val)
c.314A>G
c.375A>G
c.598A>G (p.Ile200Val)
c.72-24121A>G (n.72-24121A>G)
c.2434A>G (p.Ile812Val)
c.2049A>G
c.1586A>G
c.1334A>G
c.2512A>G (p.Ile838Val)
c.2458A>G (p.Ile820Val)
n.2527A>G
n.2615A>G
n.2487A>G
n.2363A>G
n.2623A>G
 dbSNP gnomAD v4
3g.47122202T>GCA352526474SETD2c.2302A>C (p.Ile768Leu)
c.2335A>C (p.Ile779Leu)
c.314A>C
c.375A>C
c.598A>C (p.Ile200Leu)
c.72-24121A>C (n.72-24121A>C)
c.2434A>C (p.Ile812Leu)
c.2049A>C
c.1586A>C
c.1334A>C
c.2512A>C (p.Ile838Leu)
c.2458A>C (p.Ile820Leu)
n.2527A>C
n.2615A>C
n.2487A>C
n.2363A>C
n.2623A>C
 dbSNP
3g.47122203A>CCA352526475SETD2c.2301T>G (p.Asn767Lys)
c.2334T>G (p.Asn778Lys)
c.313T>G
c.374T>G
c.597T>G (p.Asn199Lys)
c.72-24122T>G (n.72-24122T>G)
c.2433T>G (p.Asn811Lys)
c.2048T>G
c.1585T>G
c.1333T>G
c.2511T>G (p.Asn837Lys)
c.2457T>G (p.Asn819Lys)
n.2526T>G
n.2614T>G
n.2486T>G
n.2362T>G
n.2622T>G
3g.47122203A>GCA433601979SETD2c.2301T>C (p.Asn767=)
c.2334T>C (p.Asn778=)
c.313T>C
c.374T>C
c.597T>C (p.Asn199=)
c.72-24122T>C (n.72-24122T>C)
c.2433T>C (p.Asn811=)
c.2048T>C
c.1585T>C
c.1333T>C
c.2511T>C (p.Asn837=)
c.2457T>C (p.Asn819=)
n.2526T>C
n.2614T>C
n.2486T>C
n.2362T>C
n.2622T>C
3g.47122203A>TCA352526476SETD2c.2301T>A (p.Asn767Lys)
c.2334T>A (p.Asn778Lys)
c.313T>A
c.374T>A
c.597T>A (p.Asn199Lys)
c.72-24122T>A (n.72-24122T>A)
c.2433T>A (p.Asn811Lys)
c.2048T>A
c.1585T>A
c.1333T>A
c.2511T>A (p.Asn837Lys)
c.2457T>A (p.Asn819Lys)
n.2526T>A
n.2614T>A
n.2486T>A
n.2362T>A
n.2622T>A
3g.47122204T>ACA352526478SETD2c.2300A>T (p.Asn767Ile)
c.2333A>T (p.Asn778Ile)
c.312A>T
c.373A>T
c.596A>T (p.Asn199Ile)
c.72-24123A>T (n.72-24123A>T)
c.2432A>T (p.Asn811Ile)
c.2047A>T
c.1584A>T
c.1332A>T
c.2510A>T (p.Asn837Ile)
c.2456A>T (p.Asn819Ile)
n.2525A>T
n.2613A>T
n.2485A>T
n.2361A>T
n.2621A>T
 dbSNP
3g.47122204T>CCA352526479SETD2c.2300A>G (p.Asn767Ser)
c.2333A>G (p.Asn778Ser)
c.312A>G
c.373A>G
c.596A>G (p.Asn199Ser)
c.72-24123A>G (n.72-24123A>G)
c.2432A>G (p.Asn811Ser)
c.2047A>G
c.1584A>G
c.1332A>G
c.2510A>G (p.Asn837Ser)
c.2456A>G (p.Asn819Ser)
n.2525A>G
n.2613A>G
n.2485A>G
n.2361A>G
n.2621A>G
 dbSNP
3g.47122204T>GCA352526477SETD2c.2300A>C (p.Asn767Thr)
c.2333A>C (p.Asn778Thr)
c.312A>C
c.373A>C
c.596A>C (p.Asn199Thr)
c.72-24123A>C (n.72-24123A>C)
c.2432A>C (p.Asn811Thr)
c.2047A>C
c.1584A>C
c.1332A>C
c.2510A>C (p.Asn837Thr)
c.2456A>C (p.Asn819Thr)
n.2525A>C
n.2613A>C
n.2485A>C
n.2361A>C
n.2621A>C
3g.47122205T>ACA352526480SETD2c.2299A>T (p.Asn767Tyr)
c.2332A>T (p.Asn778Tyr)
c.311A>T
c.372A>T
c.595A>T (p.Asn199Tyr)
c.72-24124A>T (n.72-24124A>T)
c.2431A>T (p.Asn811Tyr)
c.2046A>T
c.1583A>T
c.1331A>T
c.2509A>T (p.Asn837Tyr)
c.2455A>T (p.Asn819Tyr)
n.2524A>T
n.2612A>T
n.2484A>T
n.2360A>T
n.2620A>T
 dbSNP
3g.47122205T>CCA73810235SETD2c.2299A>G (p.Asn767Asp)
c.2332A>G (p.Asn778Asp)
c.311A>G
c.372A>G
c.595A>G (p.Asn199Asp)
c.72-24124A>G (n.72-24124A>G)
c.2431A>G (p.Asn811Asp)
c.2046A>G
c.1583A>G
c.1331A>G
c.2509A>G (p.Asn837Asp)
c.2455A>G (p.Asn819Asp)
n.2524A>G
n.2612A>G
n.2484A>G
n.2360A>G
n.2620A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.47122205T>GCA352526481SETD2c.2299A>C (p.Asn767His)
c.2332A>C (p.Asn778His)
c.311A>C
c.372A>C
c.595A>C (p.Asn199His)
c.72-24124A>C (n.72-24124A>C)
c.2431A>C (p.Asn811His)
c.2046A>C
c.1583A>C
c.1331A>C
c.2509A>C (p.Asn837His)
c.2455A>C (p.Asn819His)
n.2524A>C
n.2612A>C
n.2484A>C
n.2360A>C
n.2620A>C
3g.47122205T=CA1362417996SETD2c.2299A= (p.Asn767=)
c.2332A= (p.Asn778=)
c.311A=
c.372A=
c.595A= (p.Asn199=)
c.72-24124A= (n.72-24124A=)
c.2431A= (p.Asn811=)
c.2046A=
c.1583A=
c.1331A=
c.2509A= (p.Asn837=)
c.2455A= (p.Asn819=)
n.2524A=
n.2612A=
n.2484A=
n.2360A=
n.2620A=
3g.47122206T>ACA352526482SETD2c.2298A>T (p.Glu766Asp)
c.2331A>T (p.Glu777Asp)
c.310A>T
c.371A>T
c.594A>T (p.Glu198Asp)
c.72-24125A>T (n.72-24125A>T)
c.2430A>T (p.Glu810Asp)
c.2045A>T
c.1582A>T
c.1330A>T
c.2508A>T (p.Glu836Asp)
c.2454A>T (p.Glu818Asp)
n.2523A>T
n.2611A>T
n.2483A>T
n.2359A>T
n.2619A>T
3g.47122206T>CCA433601983SETD2c.2298A>G (p.Glu766=)
c.2331A>G (p.Glu777=)
c.310A>G
c.371A>G
c.594A>G (p.Glu198=)
c.72-24125A>G (n.72-24125A>G)
c.2430A>G (p.Glu810=)
c.2045A>G
c.1582A>G
c.1330A>G
c.2508A>G (p.Glu836=)
c.2454A>G (p.Glu818=)
n.2523A>G
n.2611A>G
n.2483A>G
n.2359A>G
n.2619A>G
3g.47122206T>GCA352526483SETD2c.2298A>C (p.Glu766Asp)
c.2331A>C (p.Glu777Asp)
c.310A>C
c.371A>C
c.594A>C (p.Glu198Asp)
c.72-24125A>C (n.72-24125A>C)
c.2430A>C (p.Glu810Asp)
c.2045A>C
c.1582A>C
c.1330A>C
c.2508A>C (p.Glu836Asp)
c.2454A>C (p.Glu818Asp)
n.2523A>C
n.2611A>C
n.2483A>C
n.2359A>C
n.2619A>C
3g.47122207T>ACA352526484SETD2c.2297A>T (p.Glu766Val)
c.2330A>T (p.Glu777Val)
c.309A>T
c.370A>T
c.593A>T (p.Glu198Val)
c.72-24126A>T (n.72-24126A>T)
c.2429A>T (p.Glu810Val)
c.2044A>T
c.1581A>T
c.1329A>T
c.2507A>T (p.Glu836Val)
c.2453A>T (p.Glu818Val)
n.2522A>T
n.2610A>T
n.2482A>T
n.2358A>T
n.2618A>T
3g.47122207T>CCA352526485SETD2c.2297A>G (p.Glu766Gly)
c.2330A>G (p.Glu777Gly)
c.309A>G
c.370A>G
c.593A>G (p.Glu198Gly)
c.72-24126A>G (n.72-24126A>G)
c.2429A>G (p.Glu810Gly)
c.2044A>G
c.1581A>G
c.1329A>G
c.2507A>G (p.Glu836Gly)
c.2453A>G (p.Glu818Gly)
n.2522A>G
n.2610A>G
n.2482A>G
n.2358A>G
n.2618A>G
 dbSNP
3g.47122207T>GCA352526486SETD2c.2297A>C (p.Glu766Ala)
c.2330A>C (p.Glu777Ala)
c.309A>C
c.370A>C
c.593A>C (p.Glu198Ala)
c.72-24126A>C (n.72-24126A>C)
c.2429A>C (p.Glu810Ala)
c.2044A>C
c.1581A>C
c.1329A>C
c.2507A>C (p.Glu836Ala)
c.2453A>C (p.Glu818Ala)
n.2522A>C
n.2610A>C
n.2482A>C
n.2358A>C
n.2618A>C
3g.47122207T=CA1362417998SETD2c.2297A= (p.Glu766=)
c.2330A= (p.Glu777=)
c.309A=
c.370A=
c.593A= (p.Glu198=)
c.72-24126A= (n.72-24126A=)
c.2429A= (p.Glu810=)
c.2044A=
c.1581A=
c.1329A=
c.2507A= (p.Glu836=)
c.2453A= (p.Glu818=)
n.2522A=
n.2610A=
n.2482A=
n.2358A=
n.2618A=
3g.47122208C>ACA352526487SETD2c.2296G>T (p.Glu766Ter)
c.2329G>T (p.Glu777Ter)
c.308G>T
c.369G>T
c.592G>T (p.Glu198Ter)
c.72-24127G>T (n.72-24127G>T)
c.2428G>T (p.Glu810Ter)
c.2043G>T
c.1580G>T
c.1328G>T
c.2506G>T (p.Glu836Ter)
c.2452G>T (p.Glu818Ter)
n.2521G>T
n.2609G>T
n.2481G>T
n.2357G>T
n.2617G>T
 dbSNP
3g.47122208C>GCA352526488SETD2c.2296G>C (p.Glu766Gln)
c.2329G>C (p.Glu777Gln)
c.308G>C
c.369G>C
c.592G>C (p.Glu198Gln)
c.72-24127G>C (n.72-24127G>C)
c.2428G>C (p.Glu810Gln)
c.2043G>C
c.1580G>C
c.1328G>C
c.2506G>C (p.Glu836Gln)
c.2452G>C (p.Glu818Gln)
n.2521G>C
n.2609G>C
n.2481G>C
n.2357G>C
n.2617G>C
 dbSNP
3g.47122208C>TCA352526489SETD2c.2296G>A (p.Glu766Lys)
c.2329G>A (p.Glu777Lys)
c.308G>A
c.369G>A
c.592G>A (p.Glu198Lys)
c.72-24127G>A (n.72-24127G>A)
c.2428G>A (p.Glu810Lys)
c.2043G>A
c.1580G>A
c.1328G>A
c.2506G>A (p.Glu836Lys)
c.2452G>A (p.Glu818Lys)
n.2521G>A
n.2609G>A
n.2481G>A
n.2357G>A
n.2617G>A
3g.47122209A>CCA433601987SETD2c.2295T>G (p.Ala765=)
c.2328T>G (p.Ala776=)
c.307T>G
c.368T>G
c.591T>G (p.Ala197=)
c.72-24128T>G (n.72-24128T>G)
c.2427T>G (p.Ala809=)
c.2042T>G
c.1579T>G
c.1327T>G
c.2505T>G (p.Ala835=)
c.2451T>G (p.Ala817=)
n.2520T>G
n.2608T>G
n.2480T>G
n.2356T>G
n.2616T>G
3g.47122209A>GCA433601989SETD2c.2295T>C (p.Ala765=)
c.2328T>C (p.Ala776=)
c.307T>C
c.368T>C
c.591T>C (p.Ala197=)
c.72-24128T>C (n.72-24128T>C)
c.2427T>C (p.Ala809=)
c.2042T>C
c.1579T>C
c.1327T>C
c.2505T>C (p.Ala835=)
c.2451T>C (p.Ala817=)
n.2520T>C
n.2608T>C
n.2480T>C
n.2356T>C
n.2616T>C
 dbSNP
3g.47122209A>TCA433601991SETD2c.2295T>A (p.Ala765=)
c.2328T>A (p.Ala776=)
c.307T>A
c.368T>A
c.591T>A (p.Ala197=)
c.72-24128T>A (n.72-24128T>A)
c.2427T>A (p.Ala809=)
c.2042T>A
c.1579T>A
c.1327T>A
c.2505T>A (p.Ala835=)
c.2451T>A (p.Ala817=)
n.2520T>A
n.2608T>A
n.2480T>A
n.2356T>A
n.2616T>A
 dbSNP
3g.47122210G>ACA352526491SETD2c.2294C>T (p.Ala765Val)
c.2327C>T (p.Ala776Val)
c.306C>T
c.367C>T
c.590C>T (p.Ala197Val)
c.72-24129C>T (n.72-24129C>T)
c.2426C>T (p.Ala809Val)
c.2041C>T
c.1578C>T
c.1326C>T
c.2504C>T (p.Ala835Val)
c.2450C>T (p.Ala817Val)
n.2519C>T
n.2607C>T
n.2479C>T
n.2355C>T
n.2615C>T
 dbSNP
3g.47122210G>CCA352526492SETD2c.2294C>G (p.Ala765Gly)
c.2327C>G (p.Ala776Gly)
c.306C>G
c.367C>G
c.590C>G (p.Ala197Gly)
c.72-24129C>G (n.72-24129C>G)
c.2426C>G (p.Ala809Gly)
c.2041C>G
c.1578C>G
c.1326C>G
c.2504C>G (p.Ala835Gly)
c.2450C>G (p.Ala817Gly)
n.2519C>G
n.2607C>G
n.2479C>G
n.2355C>G
n.2615C>G
3g.47122210G>TCA352526490SETD2c.2294C>A (p.Ala765Asp)
c.2327C>A (p.Ala776Asp)
c.306C>A
c.367C>A
c.590C>A (p.Ala197Asp)
c.72-24129C>A (n.72-24129C>A)
c.2426C>A (p.Ala809Asp)
c.2041C>A
c.1578C>A
c.1326C>A
c.2504C>A (p.Ala835Asp)
c.2450C>A (p.Ala817Asp)
n.2519C>A
n.2607C>A
n.2479C>A
n.2355C>A
n.2615C>A
 dbSNP
3g.47122211C>ACA352526493SETD2c.2293G>T (p.Ala765Ser)
c.2326G>T (p.Ala776Ser)
c.305G>T
c.366G>T
c.589G>T (p.Ala197Ser)
c.72-24130G>T (n.72-24130G>T)
c.2425G>T (p.Ala809Ser)
c.2040G>T
c.1577G>T
c.1325G>T
c.2503G>T (p.Ala835Ser)
c.2449G>T (p.Ala817Ser)
n.2518G>T
n.2606G>T
n.2478G>T
n.2354G>T
n.2614G>T
 dbSNP
3g.47122211C=CA1362418000SETD2c.2293G= (p.Ala765=)
c.2326G= (p.Ala776=)
c.305G=
c.366G=
c.589G= (p.Ala197=)
c.72-24130G= (n.72-24130G=)
c.2425G= (p.Ala809=)
c.2040G=
c.1577G=
c.1325G=
c.2503G= (p.Ala835=)
c.2449G= (p.Ala817=)
n.2518G=
n.2606G=
n.2478G=
n.2354G=
n.2614G=
3g.47122211C>GCA352526494SETD2c.2293G>C (p.Ala765Pro)
c.2326G>C (p.Ala776Pro)
c.305G>C
c.366G>C
c.589G>C (p.Ala197Pro)
c.72-24130G>C (n.72-24130G>C)
c.2425G>C (p.Ala809Pro)
c.2040G>C
c.1577G>C
c.1325G>C
c.2503G>C (p.Ala835Pro)
c.2449G>C (p.Ala817Pro)
n.2518G>C
n.2606G>C
n.2478G>C
n.2354G>C
n.2614G>C
 dbSNP
3g.47122211C>TCA352526495SETD2c.2293G>A (p.Ala765Thr)
c.2326G>A (p.Ala776Thr)
c.305G>A
c.366G>A
c.589G>A (p.Ala197Thr)
c.72-24130G>A (n.72-24130G>A)
c.2425G>A (p.Ala809Thr)
c.2040G>A
c.1577G>A
c.1325G>A
c.2503G>A (p.Ala835Thr)
c.2449G>A (p.Ala817Thr)
n.2518G>A
n.2606G>A
n.2478G>A
n.2354G>A
n.2614G>A
 dbSNP
3g.47122212T>ACA352526496SETD2c.2292A>T (p.Glu764Asp)
c.2325A>T (p.Glu775Asp)
c.304A>T
c.365A>T
c.588A>T (p.Glu196Asp)
c.72-24131A>T (n.72-24131A>T)
c.2424A>T (p.Glu808Asp)
c.2039A>T
c.1576A>T
c.1324A>T
c.2502A>T (p.Glu834Asp)
c.2448A>T (p.Glu816Asp)
n.2517A>T
n.2605A>T
n.2477A>T
n.2353A>T
n.2613A>T
 dbSNP
3g.47122212T>CCA433601994SETD2c.2292A>G (p.Glu764=)
c.2325A>G (p.Glu775=)
c.304A>G
c.365A>G
c.588A>G (p.Glu196=)
c.72-24131A>G (n.72-24131A>G)
c.2424A>G (p.Glu808=)
c.2039A>G
c.1576A>G
c.1324A>G
c.2502A>G (p.Glu834=)
c.2448A>G (p.Glu816=)
n.2517A>G
n.2605A>G
n.2477A>G
n.2353A>G
n.2613A>G
 dbSNP gnomAD v4
3g.47122212T>GCA352526497SETD2c.2292A>C (p.Glu764Asp)
c.2325A>C (p.Glu775Asp)
c.304A>C
c.365A>C
c.588A>C (p.Glu196Asp)
c.72-24131A>C (n.72-24131A>C)
c.2424A>C (p.Glu808Asp)
c.2039A>C
c.1576A>C
c.1324A>C
c.2502A>C (p.Glu834Asp)
c.2448A>C (p.Glu816Asp)
n.2517A>C
n.2605A>C
n.2477A>C
n.2353A>C
n.2613A>C
3g.47122212T=CA1362418002SETD2c.2292A= (p.Glu764=)
c.2325A= (p.Glu775=)
c.304A=
c.365A=
c.588A= (p.Glu196=)
c.72-24131A= (n.72-24131A=)
c.2424A= (p.Glu808=)
c.2039A=
c.1576A=
c.1324A=
c.2502A= (p.Glu834=)
c.2448A= (p.Glu816=)
n.2517A=
n.2605A=
n.2477A=
n.2353A=
n.2613A=
3g.47122213T>ACA352526500SETD2c.2291A>T (p.Glu764Val)
c.2324A>T (p.Glu775Val)
c.303A>T
c.364A>T
c.587A>T (p.Glu196Val)
c.72-24132A>T (n.72-24132A>T)
c.2423A>T (p.Glu808Val)
c.2038A>T
c.1575A>T
c.1323A>T
c.2501A>T (p.Glu834Val)
c.2447A>T (p.Glu816Val)
n.2516A>T
n.2604A>T
n.2476A>T
n.2352A>T
n.2612A>T
 dbSNP
3g.47122213T>CCA352526498SETD2c.2291A>G (p.Glu764Gly)
c.2324A>G (p.Glu775Gly)
c.303A>G
c.364A>G
c.587A>G (p.Glu196Gly)
c.72-24132A>G (n.72-24132A>G)
c.2423A>G (p.Glu808Gly)
c.2038A>G
c.1575A>G
c.1323A>G
c.2501A>G (p.Glu834Gly)
c.2447A>G (p.Glu816Gly)
n.2516A>G
n.2604A>G
n.2476A>G
n.2352A>G
n.2612A>G
 dbSNP
3g.47122213T>GCA352526499SETD2c.2291A>C (p.Glu764Ala)
c.2324A>C (p.Glu775Ala)
c.303A>C
c.364A>C
c.587A>C (p.Glu196Ala)
c.72-24132A>C (n.72-24132A>C)
c.2423A>C (p.Glu808Ala)
c.2038A>C
c.1575A>C
c.1323A>C
c.2501A>C (p.Glu834Ala)
c.2447A>C (p.Glu816Ala)
n.2516A>C
n.2604A>C
n.2476A>C
n.2352A>C
n.2612A>C
3g.47122214C>ACA352526503SETD2c.2290G>T (p.Glu764Ter)
c.2323G>T (p.Glu775Ter)
c.302G>T
c.363G>T
c.586G>T (p.Glu196Ter)
c.72-24133G>T (n.72-24133G>T)
c.2422G>T (p.Glu808Ter)
c.2037G>T
c.1574G>T
c.1322G>T
c.2500G>T (p.Glu834Ter)
c.2446G>T (p.Glu816Ter)
n.2515G>T
n.2603G>T
n.2475G>T
n.2351G>T
n.2611G>T
 dbSNP
3g.47122214C>GCA352526504SETD2c.2290G>C (p.Glu764Gln)
c.2323G>C (p.Glu775Gln)
c.302G>C
c.363G>C
c.586G>C (p.Glu196Gln)
c.72-24133G>C (n.72-24133G>C)
c.2422G>C (p.Glu808Gln)
c.2037G>C
c.1574G>C
c.1322G>C
c.2500G>C (p.Glu834Gln)
c.2446G>C (p.Glu816Gln)
n.2515G>C
n.2603G>C
n.2475G>C
n.2351G>C
n.2611G>C
 dbSNP
3g.47122214C>TCA352526506SETD2c.2290G>A (p.Glu764Lys)
c.2323G>A (p.Glu775Lys)
c.302G>A
c.363G>A
c.586G>A (p.Glu196Lys)
c.72-24133G>A (n.72-24133G>A)
c.2422G>A (p.Glu808Lys)
c.2037G>A
c.1574G>A
c.1322G>A
c.2500G>A (p.Glu834Lys)
c.2446G>A (p.Glu816Lys)
n.2515G>A
n.2603G>A
n.2475G>A
n.2351G>A
n.2611G>A
 dbSNP
3g.47122215A>CCA433601995SETD2c.2289T>G (p.Ser763=)
c.2322T>G (p.Ser774=)
c.301T>G
c.362T>G
c.585T>G (p.Ser195=)
c.72-24134T>G (n.72-24134T>G)
c.2421T>G (p.Ser807=)
c.2036T>G
c.1573T>G
c.1321T>G
c.2499T>G (p.Ser833=)
c.2445T>G (p.Ser815=)
n.2514T>G
n.2602T>G
n.2474T>G
n.2350T>G
n.2610T>G
3g.47122215A>GCA433601996SETD2c.2289T>C (p.Ser763=)
c.2322T>C (p.Ser774=)
c.301T>C
c.362T>C
c.585T>C (p.Ser195=)
c.72-24134T>C (n.72-24134T>C)
c.2421T>C (p.Ser807=)
c.2036T>C
c.1573T>C
c.1321T>C
c.2499T>C (p.Ser833=)
c.2445T>C (p.Ser815=)
n.2514T>C
n.2602T>C
n.2474T>C
n.2350T>C
n.2610T>C
 dbSNP
3g.47122215A>TCA433601997SETD2c.2289T>A (p.Ser763=)
c.2322T>A (p.Ser774=)
c.301T>A
c.362T>A
c.585T>A (p.Ser195=)
c.72-24134T>A (n.72-24134T>A)
c.2421T>A (p.Ser807=)
c.2036T>A
c.1573T>A
c.1321T>A
c.2499T>A (p.Ser833=)
c.2445T>A (p.Ser815=)
n.2514T>A
n.2602T>A
n.2474T>A
n.2350T>A
n.2610T>A
 dbSNP
3g.47122217_47122218delCA2843744791SETD2c.2288_2289del (p.Ser763Ter)
c.2321_2322del (p.Ser774Ter)
c.300_301del
c.361_362del
c.584_585del (p.Ser195Ter)
c.72-24135_72-24134del (n.72-24135_72-24134del)
c.2420_2421del (p.Ser807Ter)
c.2035_2036del
c.1572_1573del
c.1320_1321del
c.2498_2499del (p.Ser833Ter)
c.2444_2445del (p.Ser815Ter)
n.2513_2514del
n.2601_2602del
n.2473_2474del
n.2349_2350del
n.2609_2610del
3g.47122216G>ACA352526508SETD2c.2288C>T (p.Ser763Phe)
c.2321C>T (p.Ser774Phe)
c.300C>T
c.361C>T
c.584C>T (p.Ser195Phe)
c.72-24135C>T (n.72-24135C>T)
c.2420C>T (p.Ser807Phe)
c.2035C>T
c.1572C>T
c.1320C>T
c.2498C>T (p.Ser833Phe)
c.2444C>T (p.Ser815Phe)
n.2513C>T
n.2601C>T
n.2473C>T
n.2349C>T
n.2609C>T
 dbSNP
3g.47122216G>CCA352526510SETD2c.2288C>G (p.Ser763Cys)
c.2321C>G (p.Ser774Cys)
c.300C>G
c.361C>G
c.584C>G (p.Ser195Cys)
c.72-24135C>G (n.72-24135C>G)
c.2420C>G (p.Ser807Cys)
c.2035C>G
c.1572C>G
c.1320C>G
c.2498C>G (p.Ser833Cys)
c.2444C>G (p.Ser815Cys)
n.2513C>G
n.2601C>G
n.2473C>G
n.2349C>G
n.2609C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47122216G=CA1362418004SETD2c.2288C= (p.Ser763=)
c.2321C= (p.Ser774=)
c.300C=
c.361C=
c.584C= (p.Ser195=)
c.72-24135C= (n.72-24135C=)
c.2420C= (p.Ser807=)
c.2035C=
c.1572C=
c.1320C=
c.2498C= (p.Ser833=)
c.2444C= (p.Ser815=)
n.2513C=
n.2601C=
n.2473C=
n.2349C=
n.2609C=
3g.47122216G>TCA352526511SETD2c.2288C>A (p.Ser763Tyr)
c.2321C>A (p.Ser774Tyr)
c.300C>A
c.361C>A
c.584C>A (p.Ser195Tyr)
c.72-24135C>A (n.72-24135C>A)
c.2420C>A (p.Ser807Tyr)
c.2035C>A
c.1572C>A
c.1320C>A
c.2498C>A (p.Ser833Tyr)
c.2444C>A (p.Ser815Tyr)
n.2513C>A
n.2601C>A
n.2473C>A
n.2349C>A
n.2609C>A
3g.47122217A>CCA352526514SETD2c.2287T>G (p.Ser763Ala)
c.2320T>G (p.Ser774Ala)
c.299T>G
c.360T>G
c.583T>G (p.Ser195Ala)
c.72-24136T>G (n.72-24136T>G)
c.2419T>G (p.Ser807Ala)
c.2034T>G
c.1571T>G
c.1319T>G
c.2497T>G (p.Ser833Ala)
c.2443T>G (p.Ser815Ala)
n.2512T>G
n.2600T>G
n.2472T>G
n.2348T>G
n.2608T>G
3g.47122217A>GCA352526515SETD2c.2287T>C (p.Ser763Pro)
c.2320T>C (p.Ser774Pro)
c.299T>C
c.360T>C
c.583T>C (p.Ser195Pro)
c.72-24136T>C (n.72-24136T>C)
c.2419T>C (p.Ser807Pro)
c.2034T>C
c.1571T>C
c.1319T>C
c.2497T>C (p.Ser833Pro)
c.2443T>C (p.Ser815Pro)
n.2512T>C
n.2600T>C
n.2472T>C
n.2348T>C
n.2608T>C
 dbSNP
3g.47122217A>TCA352526513SETD2c.2287T>A (p.Ser763Thr)
c.2320T>A (p.Ser774Thr)
c.299T>A
c.360T>A
c.583T>A (p.Ser195Thr)
c.72-24136T>A (n.72-24136T>A)
c.2419T>A (p.Ser807Thr)
c.2034T>A
c.1571T>A
c.1319T>A
c.2497T>A (p.Ser833Thr)
c.2443T>A (p.Ser815Thr)
n.2512T>A
n.2600T>A
n.2472T>A
n.2348T>A
n.2608T>A
 dbSNP
3g.47122218G>ACA433602003SETD2c.2286C>T (p.Asn762=)
c.2319C>T (p.Asn773=)
c.298C>T
c.359C>T
c.582C>T (p.Asn194=)
c.72-24137C>T (n.72-24137C>T)
c.2418C>T (p.Asn806=)
c.2033C>T
c.1570C>T
c.1318C>T
c.2496C>T (p.Asn832=)
c.2442C>T (p.Asn814=)
n.2511C>T
n.2599C>T
n.2471C>T
n.2347C>T
n.2607C>T
3g.47122218G>CCA352526516SETD2c.2286C>G (p.Asn762Lys)
c.2319C>G (p.Asn773Lys)
c.298C>G
c.359C>G
c.582C>G (p.Asn194Lys)
c.72-24137C>G (n.72-24137C>G)
c.2418C>G (p.Asn806Lys)
c.2033C>G
c.1570C>G
c.1318C>G
c.2496C>G (p.Asn832Lys)
c.2442C>G (p.Asn814Lys)
n.2511C>G
n.2599C>G
n.2471C>G
n.2347C>G
n.2607C>G
3g.47122218G>TCA352526518SETD2c.2286C>A (p.Asn762Lys)
c.2319C>A (p.Asn773Lys)
c.298C>A
c.359C>A
c.582C>A (p.Asn194Lys)
c.72-24137C>A (n.72-24137C>A)
c.2418C>A (p.Asn806Lys)
c.2033C>A
c.1570C>A
c.1318C>A
c.2496C>A (p.Asn832Lys)
c.2442C>A (p.Asn814Lys)
n.2511C>A
n.2599C>A
n.2471C>A
n.2347C>A
n.2607C>A
3g.47122219T>ACA352526520SETD2c.2285A>T (p.Asn762Ile)
c.2318A>T (p.Asn773Ile)
c.297A>T
c.358A>T
c.581A>T (p.Asn194Ile)
c.72-24138A>T (n.72-24138A>T)
c.2417A>T (p.Asn806Ile)
c.2032A>T
c.1569A>T
c.1317A>T
c.2495A>T (p.Asn832Ile)
c.2441A>T (p.Asn814Ile)
n.2510A>T
n.2598A>T
n.2470A>T
n.2346A>T
n.2606A>T
 dbSNP
3g.47122219T>CCA352526521SETD2c.2285A>G (p.Asn762Ser)
c.2318A>G (p.Asn773Ser)
c.297A>G
c.358A>G
c.581A>G (p.Asn194Ser)
c.72-24138A>G (n.72-24138A>G)
c.2417A>G (p.Asn806Ser)
c.2032A>G
c.1569A>G
c.1317A>G
c.2495A>G (p.Asn832Ser)
c.2441A>G (p.Asn814Ser)
n.2510A>G
n.2598A>G
n.2470A>G
n.2346A>G
n.2606A>G
3g.47122219T>GCA352526523SETD2c.2285A>C (p.Asn762Thr)
c.2318A>C (p.Asn773Thr)
c.297A>C
c.358A>C
c.581A>C (p.Asn194Thr)
c.72-24138A>C (n.72-24138A>C)
c.2417A>C (p.Asn806Thr)
c.2032A>C
c.1569A>C
c.1317A>C
c.2495A>C (p.Asn832Thr)
c.2441A>C (p.Asn814Thr)
n.2510A>C
n.2598A>C
n.2470A>C
n.2346A>C
n.2606A>C
 ClinVar dbSNP
3g.47122219T=CA1362418006SETD2c.2285A= (p.Asn762=)
c.2318A= (p.Asn773=)
c.297A=
c.358A=
c.581A= (p.Asn194=)
c.72-24138A= (n.72-24138A=)
c.2417A= (p.Asn806=)
c.2032A=
c.1569A=
c.1317A=
c.2495A= (p.Asn832=)
c.2441A= (p.Asn814=)
n.2510A=
n.2598A=
n.2470A=
n.2346A=
n.2606A=
3g.47122220delCA2702635592SETD2c.2285del (p.Asn762ThrfsTer12)
c.2318del (p.Asn773ThrfsTer12)
c.297del
c.358del
c.581del (p.Asn194ThrfsTer12)
c.72-24138del (n.72-24138del)
c.2417del (p.Asn806ThrfsTer12)
c.2032del
c.1569del
c.1317del
c.2495del (p.Asn832ThrfsTer12)
c.2441del (p.Asn814ThrfsTer12)
n.2510del
n.2598del
n.2470del
n.2346del
n.2606del
 dbSNP
3g.47122220T>ACA352526525SETD2c.2284A>T (p.Asn762Tyr)
c.2317A>T (p.Asn773Tyr)
c.296A>T
c.357A>T
c.580A>T (p.Asn194Tyr)
c.72-24139A>T (n.72-24139A>T)
c.2416A>T (p.Asn806Tyr)
c.2031A>T
c.1568A>T
c.1316A>T
c.2494A>T (p.Asn832Tyr)
c.2440A>T (p.Asn814Tyr)
n.2509A>T
n.2597A>T
n.2469A>T
n.2345A>T
n.2605A>T
 dbSNP gnomAD v4
3g.47122220T>CCA352526527SETD2c.2284A>G (p.Asn762Asp)
c.2317A>G (p.Asn773Asp)
c.296A>G
c.357A>G
c.580A>G (p.Asn194Asp)
c.72-24139A>G (n.72-24139A>G)
c.2416A>G (p.Asn806Asp)
c.2031A>G
c.1568A>G
c.1316A>G
c.2494A>G (p.Asn832Asp)
c.2440A>G (p.Asn814Asp)
n.2509A>G
n.2597A>G
n.2469A>G
n.2345A>G
n.2605A>G
 dbSNP
3g.47122220T>GCA352526528SETD2c.2284A>C (p.Asn762His)
c.2317A>C (p.Asn773His)
c.296A>C
c.357A>C
c.580A>C (p.Asn194His)
c.72-24139A>C (n.72-24139A>C)
c.2416A>C (p.Asn806His)
c.2031A>C
c.1568A>C
c.1316A>C
c.2494A>C (p.Asn832His)
c.2440A>C (p.Asn814His)
n.2509A>C
n.2597A>C
n.2469A>C
n.2345A>C
n.2605A>C
 dbSNP
3g.47122221A>CCA352526529SETD2c.2283T>G (p.Cys761Trp)
c.2316T>G (p.Cys772Trp)
c.295T>G
c.356T>G
c.579T>G (p.Cys193Trp)
c.72-24140T>G (n.72-24140T>G)
c.2415T>G (p.Cys805Trp)
c.2030T>G
c.1567T>G
c.1315T>G
c.2493T>G (p.Cys831Trp)
c.2439T>G (p.Cys813Trp)
n.2508T>G
n.2596T>G
n.2468T>G
n.2344T>G
n.2604T>G
 dbSNP
3g.47122221A>GCA433602010SETD2c.2283T>C (p.Cys761=)
c.2316T>C (p.Cys772=)
c.295T>C
c.356T>C
c.579T>C (p.Cys193=)
c.72-24140T>C (n.72-24140T>C)
c.2415T>C (p.Cys805=)
c.2030T>C
c.1567T>C
c.1315T>C
c.2493T>C (p.Cys831=)
c.2439T>C (p.Cys813=)
n.2508T>C
n.2596T>C
n.2468T>C
n.2344T>C
n.2604T>C
 dbSNP
3g.47122221A>TCA352526531SETD2c.2283T>A (p.Cys761Ter)
c.2316T>A (p.Cys772Ter)
c.295T>A
c.356T>A
c.579T>A (p.Cys193Ter)
c.72-24140T>A (n.72-24140T>A)
c.2415T>A (p.Cys805Ter)
c.2030T>A
c.1567T>A
c.1315T>A
c.2493T>A (p.Cys831Ter)
c.2439T>A (p.Cys813Ter)
n.2508T>A
n.2596T>A
n.2468T>A
n.2344T>A
n.2604T>A
 dbSNP
3g.47122222C>ACA352526533SETD2c.2282G>T (p.Cys761Phe)
c.2315G>T (p.Cys772Phe)
c.294G>T
c.355G>T
c.578G>T (p.Cys193Phe)
c.72-24141G>T (n.72-24141G>T)
c.2414G>T (p.Cys805Phe)
c.2029G>T
c.1566G>T
c.1314G>T
c.2492G>T (p.Cys831Phe)
c.2438G>T (p.Cys813Phe)
n.2507G>T
n.2595G>T
n.2467G>T
n.2343G>T
n.2603G>T
 dbSNP gnomAD v4
3g.47122222C=CA1362418007SETD2c.2282G= (p.Cys761=)
c.2315G= (p.Cys772=)
c.294G=
c.355G=
c.578G= (p.Cys193=)
c.72-24141G= (n.72-24141G=)
c.2414G= (p.Cys805=)
c.2029G=
c.1566G=
c.1314G=
c.2492G= (p.Cys831=)
c.2438G= (p.Cys813=)
n.2507G=
n.2595G=
n.2467G=
n.2343G=
n.2603G=
3g.47122222C>GCA352526535SETD2c.2282G>C (p.Cys761Ser)
c.2315G>C (p.Cys772Ser)
c.294G>C
c.355G>C
c.578G>C (p.Cys193Ser)
c.72-24141G>C (n.72-24141G>C)
c.2414G>C (p.Cys805Ser)
c.2029G>C
c.1566G>C
c.1314G>C
c.2492G>C (p.Cys831Ser)
c.2438G>C (p.Cys813Ser)
n.2507G>C
n.2595G>C
n.2467G>C
n.2343G>C
n.2603G>C
 dbSNP
3g.47122222C>TCA352526536SETD2c.2282G>A (p.Cys761Tyr)
c.2315G>A (p.Cys772Tyr)
c.294G>A
c.355G>A
c.578G>A (p.Cys193Tyr)
c.72-24141G>A (n.72-24141G>A)
c.2414G>A (p.Cys805Tyr)
c.2029G>A
c.1566G>A
c.1314G>A
c.2492G>A (p.Cys831Tyr)
c.2438G>A (p.Cys813Tyr)
n.2507G>A
n.2595G>A
n.2467G>A
n.2343G>A
n.2603G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47122223A>CCA352526541SETD2c.2281T>G (p.Cys761Gly)
c.2314T>G (p.Cys772Gly)
c.293T>G
c.354T>G
c.577T>G (p.Cys193Gly)
c.72-24142T>G (n.72-24142T>G)
c.2413T>G (p.Cys805Gly)
c.2028T>G
c.1565T>G
c.1313T>G
c.2491T>G (p.Cys831Gly)
c.2437T>G (p.Cys813Gly)
n.2506T>G
n.2594T>G
n.2466T>G
n.2342T>G
n.2602T>G
3g.47122223A>GCA352526540SETD2c.2281T>C (p.Cys761Arg)
c.2314T>C (p.Cys772Arg)
c.293T>C
c.354T>C
c.577T>C (p.Cys193Arg)
c.72-24142T>C (n.72-24142T>C)
c.2413T>C (p.Cys805Arg)
c.2028T>C
c.1565T>C
c.1313T>C
c.2491T>C (p.Cys831Arg)
c.2437T>C (p.Cys813Arg)
n.2506T>C
n.2594T>C
n.2466T>C
n.2342T>C
n.2602T>C
 dbSNP
3g.47122223A>TCA352526538SETD2c.2281T>A (p.Cys761Ser)
c.2314T>A (p.Cys772Ser)
c.293T>A
c.354T>A
c.577T>A (p.Cys193Ser)
c.72-24142T>A (n.72-24142T>A)
c.2413T>A (p.Cys805Ser)
c.2028T>A
c.1565T>A
c.1313T>A
c.2491T>A (p.Cys831Ser)
c.2437T>A (p.Cys813Ser)
n.2506T>A
n.2594T>A
n.2466T>A
n.2342T>A
n.2602T>A
 dbSNP
3g.47122224C>ACA352526542SETD2c.2280G>T (p.Leu760Phe)
c.2313G>T (p.Leu771Phe)
c.292G>T
c.353G>T
c.576G>T (p.Leu192Phe)
c.72-24143G>T (n.72-24143G>T)
c.2412G>T (p.Leu804Phe)
c.2027G>T
c.1564G>T
c.1312G>T
c.2490G>T (p.Leu830Phe)
c.2436G>T (p.Leu812Phe)
n.2505G>T
n.2593G>T
n.2465G>T
n.2341G>T
n.2601G>T
 ClinVar dbSNP
3g.47122224C=CA1362418009SETD2c.2280G= (p.Leu760=)
c.2313G= (p.Leu771=)
c.292G=
c.353G=
c.576G= (p.Leu192=)
c.72-24143G= (n.72-24143G=)
c.2412G= (p.Leu804=)
c.2027G=
c.1564G=
c.1312G=
c.2490G= (p.Leu830=)
c.2436G= (p.Leu812=)
n.2505G=
n.2593G=
n.2465G=
n.2341G=
n.2601G=
3g.47122224C>GCA352526544SETD2c.2280G>C (p.Leu760Phe)
c.2313G>C (p.Leu771Phe)
c.292G>C
c.353G>C
c.576G>C (p.Leu192Phe)
c.72-24143G>C (n.72-24143G>C)
c.2412G>C (p.Leu804Phe)
c.2027G>C
c.1564G>C
c.1312G>C
c.2490G>C (p.Leu830Phe)
c.2436G>C (p.Leu812Phe)
n.2505G>C
n.2593G>C
n.2465G>C
n.2341G>C
n.2601G>C
 dbSNP
3g.47122224C>TCA2363537SETD2c.2280G>A (p.Leu760=)
c.2313G>A (p.Leu771=)
c.292G>A
c.353G>A
c.576G>A (p.Leu192=)
c.72-24143G>A (n.72-24143G>A)
c.2412G>A (p.Leu804=)
c.2027G>A
c.1564G>A
c.1312G>A
c.2490G>A (p.Leu830=)
c.2436G>A (p.Leu812=)
n.2505G>A
n.2593G>A
n.2465G>A
n.2341G>A
n.2601G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122225A=CA1362418010SETD2c.2279T= (p.Leu760=)
c.2312T= (p.Leu771=)
c.291T=
c.352T=
c.575T= (p.Leu192=)
c.72-24144T= (n.72-24144T=)
c.2411T= (p.Leu804=)
c.2026T=
c.1563T=
c.1311T=
c.2489T= (p.Leu830=)
c.2435T= (p.Leu812=)
n.2504T=
n.2592T=
n.2464T=
n.2340T=
n.2600T=
3g.47122225A>CCA352526546SETD2c.2279T>G (p.Leu760Trp)
c.2312T>G (p.Leu771Trp)
c.291T>G
c.352T>G
c.575T>G (p.Leu192Trp)
c.72-24144T>G (n.72-24144T>G)
c.2411T>G (p.Leu804Trp)
c.2026T>G
c.1563T>G
c.1311T>G
c.2489T>G (p.Leu830Trp)
c.2435T>G (p.Leu812Trp)
n.2504T>G
n.2592T>G
n.2464T>G
n.2340T>G
n.2600T>G
3g.47122225A>GCA352526547SETD2c.2279T>C (p.Leu760Ser)
c.2312T>C (p.Leu771Ser)
c.291T>C
c.352T>C
c.575T>C (p.Leu192Ser)
c.72-24144T>C (n.72-24144T>C)
c.2411T>C (p.Leu804Ser)
c.2026T>C
c.1563T>C
c.1311T>C
c.2489T>C (p.Leu830Ser)
c.2435T>C (p.Leu812Ser)
n.2504T>C
n.2592T>C
n.2464T>C
n.2340T>C
n.2600T>C
 dbSNP gnomAD v4
3g.47122225A>TCA352526548SETD2c.2279T>A (p.Leu760Ter)
c.2312T>A (p.Leu771Ter)
c.291T>A
c.352T>A
c.575T>A (p.Leu192Ter)
c.72-24144T>A (n.72-24144T>A)
c.2411T>A (p.Leu804Ter)
c.2026T>A
c.1563T>A
c.1311T>A
c.2489T>A (p.Leu830Ter)
c.2435T>A (p.Leu812Ter)
n.2504T>A
n.2592T>A
n.2464T>A
n.2340T>A
n.2600T>A
 dbSNP
3g.47122225_47122228delinsAAAGCA1362418012SETD2c.2276_2279delinsCTTT (p.Ser759=)
c.2309_2312delinsCTTT (p.Ser770=)
c.288_291delinsCTTT
c.349_352delinsCTTT
c.572_575delinsCTTT (p.Ser191=)
c.72-24147_72-24144delinsCTTT (n.72-24147_72-24144delinsCTTT)
c.2408_2411delinsCTTT (p.Ser803=)
c.2023_2026delinsCTTT
c.1560_1563delinsCTTT
c.1308_1311delinsCTTT
c.2486_2489delinsCTTT (p.Ser829=)
c.2432_2435delinsCTTT (p.Ser811=)
n.2501_2504delinsCTTT
n.2589_2592delinsCTTT
n.2461_2464delinsCTTT
n.2337_2340delinsCTTT
n.2597_2600delinsCTTT
3g.47122226A=CA1362418014SETD2c.2278T= (p.Leu760=)
c.2311T= (p.Leu771=)
c.290T=
c.351T=
c.574T= (p.Leu192=)
c.72-24145T= (n.72-24145T=)
c.2410T= (p.Leu804=)
c.2025T=
c.1562T=
c.1310T=
c.2488T= (p.Leu830=)
c.2434T= (p.Leu812=)
n.2503T=
n.2591T=
n.2463T=
n.2339T=
n.2599T=
3g.47122226A>CCA352526549SETD2c.2278T>G (p.Leu760Val)
c.2311T>G (p.Leu771Val)
c.290T>G
c.351T>G
c.574T>G (p.Leu192Val)
c.72-24145T>G (n.72-24145T>G)
c.2410T>G (p.Leu804Val)
c.2025T>G
c.1562T>G
c.1310T>G
c.2488T>G (p.Leu830Val)
c.2434T>G (p.Leu812Val)
n.2503T>G
n.2591T>G
n.2463T>G
n.2339T>G
n.2599T>G
3g.47122226A>GCA433602017SETD2c.2278T>C (p.Leu760=)
c.2311T>C (p.Leu771=)
c.290T>C
c.351T>C
c.574T>C (p.Leu192=)
c.72-24145T>C (n.72-24145T>C)
c.2410T>C (p.Leu804=)
c.2025T>C
c.1562T>C
c.1310T>C
c.2488T>C (p.Leu830=)
c.2434T>C (p.Leu812=)
n.2503T>C
n.2591T>C
n.2463T>C
n.2339T>C
n.2599T>C
 dbSNP gnomAD v3 gnomAD v4
3g.47122226A>TCA352526551SETD2c.2278T>A (p.Leu760Met)
c.2311T>A (p.Leu771Met)
c.290T>A
c.351T>A
c.574T>A (p.Leu192Met)
c.72-24145T>A (n.72-24145T>A)
c.2410T>A (p.Leu804Met)
c.2025T>A
c.1562T>A
c.1310T>A
c.2488T>A (p.Leu830Met)
c.2434T>A (p.Leu812Met)
n.2503T>A
n.2591T>A
n.2463T>A
n.2339T>A
n.2599T>A
 dbSNP
3g.47122229_47122231delCA1047563890SETD2c.2276_2278del (p.Ser759del)
c.2309_2311del (p.Ser770del)
c.288_290del
c.349_351del
c.572_574del (p.Ser191del)
c.72-24147_72-24145del (n.72-24147_72-24145del)
c.2408_2410del (p.Ser803del)
c.2023_2025del
c.1560_1562del
c.1308_1310del
c.2486_2488del (p.Ser829del)
c.2432_2434del (p.Ser811del)
n.2501_2503del
n.2589_2591del
n.2461_2463del
n.2337_2339del
n.2597_2599del
 dbSNP gnomAD v3 gnomAD v4
3g.47122227A>CCA433602022SETD2c.2277T>G (p.Ser759=)
c.2310T>G (p.Ser770=)
c.289T>G
c.350T>G
c.573T>G (p.Ser191=)
c.72-24146T>G (n.72-24146T>G)
c.2409T>G (p.Ser803=)
c.2024T>G
c.1561T>G
c.1309T>G
c.2487T>G (p.Ser829=)
c.2433T>G (p.Ser811=)
n.2502T>G
n.2590T>G
n.2462T>G
n.2338T>G
n.2598T>G
3g.47122227A>GCA433602020SETD2c.2277T>C (p.Ser759=)
c.2310T>C (p.Ser770=)
c.289T>C
c.350T>C
c.573T>C (p.Ser191=)
c.72-24146T>C (n.72-24146T>C)
c.2409T>C (p.Ser803=)
c.2024T>C
c.1561T>C
c.1309T>C
c.2487T>C (p.Ser829=)
c.2433T>C (p.Ser811=)
n.2502T>C
n.2590T>C
n.2462T>C
n.2338T>C
n.2598T>C
3g.47122227A>TCA433602019SETD2c.2277T>A (p.Ser759=)
c.2310T>A (p.Ser770=)
c.289T>A
c.350T>A
c.573T>A (p.Ser191=)
c.72-24146T>A (n.72-24146T>A)
c.2409T>A (p.Ser803=)
c.2024T>A
c.1561T>A
c.1309T>A
c.2487T>A (p.Ser829=)
c.2433T>A (p.Ser811=)
n.2502T>A
n.2590T>A
n.2462T>A
n.2338T>A
n.2598T>A
 dbSNP
3g.47122228G>ACA352526552SETD2c.2276C>T (p.Ser759Phe)
c.2309C>T (p.Ser770Phe)
c.288C>T
c.349C>T
c.572C>T (p.Ser191Phe)
c.72-24147C>T (n.72-24147C>T)
c.2408C>T (p.Ser803Phe)
c.2023C>T
c.1560C>T
c.1308C>T
c.2486C>T (p.Ser829Phe)
c.2432C>T (p.Ser811Phe)
n.2501C>T
n.2589C>T
n.2461C>T
n.2337C>T
n.2597C>T
 dbSNP
3g.47122228G>CCA352526554SETD2c.2276C>G (p.Ser759Cys)
c.2309C>G (p.Ser770Cys)
c.288C>G
c.349C>G
c.572C>G (p.Ser191Cys)
c.72-24147C>G (n.72-24147C>G)
c.2408C>G (p.Ser803Cys)
c.2023C>G
c.1560C>G
c.1308C>G
c.2486C>G (p.Ser829Cys)
c.2432C>G (p.Ser811Cys)
n.2501C>G
n.2589C>G
n.2461C>G
n.2337C>G
n.2597C>G
 dbSNP gnomAD v4
3g.47122228G>TCA352526556SETD2c.2276C>A (p.Ser759Tyr)
c.2309C>A (p.Ser770Tyr)
c.288C>A
c.349C>A
c.572C>A (p.Ser191Tyr)
c.72-24147C>A (n.72-24147C>A)
c.2408C>A (p.Ser803Tyr)
c.2023C>A
c.1560C>A
c.1308C>A
c.2486C>A (p.Ser829Tyr)
c.2432C>A (p.Ser811Tyr)
n.2501C>A
n.2589C>A
n.2461C>A
n.2337C>A
n.2597C>A
3g.47122229A>CCA352526557SETD2c.2275T>G (p.Ser759Ala)
c.2308T>G (p.Ser770Ala)
c.287T>G
c.348T>G
c.571T>G (p.Ser191Ala)
c.72-24148T>G (n.72-24148T>G)
c.2407T>G (p.Ser803Ala)
c.2022T>G
c.1559T>G
c.1307T>G
c.2485T>G (p.Ser829Ala)
c.2431T>G (p.Ser811Ala)
n.2500T>G
n.2588T>G
n.2460T>G
n.2336T>G
n.2596T>G
 dbSNP
3g.47122229A>GCA352526559SETD2c.2275T>C (p.Ser759Pro)
c.2308T>C (p.Ser770Pro)
c.287T>C
c.348T>C
c.571T>C (p.Ser191Pro)
c.72-24148T>C (n.72-24148T>C)
c.2407T>C (p.Ser803Pro)
c.2022T>C
c.1559T>C
c.1307T>C
c.2485T>C (p.Ser829Pro)
c.2431T>C (p.Ser811Pro)
n.2500T>C
n.2588T>C
n.2460T>C
n.2336T>C
n.2596T>C
3g.47122229A>TCA352526560SETD2c.2275T>A (p.Ser759Thr)
c.2308T>A (p.Ser770Thr)
c.287T>A
c.348T>A
c.571T>A (p.Ser191Thr)
c.72-24148T>A (n.72-24148T>A)
c.2407T>A (p.Ser803Thr)
c.2022T>A
c.1559T>A
c.1307T>A
c.2485T>A (p.Ser829Thr)
c.2431T>A (p.Ser811Thr)
n.2500T>A
n.2588T>A
n.2460T>A
n.2336T>A
n.2596T>A
 dbSNP
3g.47122230A>CCA433602024SETD2c.2274T>G (p.Pro758=)
c.2307T>G (p.Pro769=)
c.286T>G
c.347T>G
c.570T>G (p.Pro190=)
c.72-24149T>G (n.72-24149T>G)
c.2406T>G (p.Pro802=)
c.2021T>G
c.1558T>G
c.1306T>G
c.2484T>G (p.Pro828=)
c.2430T>G (p.Pro810=)
n.2499T>G
n.2587T>G
n.2459T>G
n.2335T>G
n.2595T>G
3g.47122230A>GCA433602029SETD2c.2274T>C (p.Pro758=)
c.2307T>C (p.Pro769=)
c.286T>C
c.347T>C
c.570T>C (p.Pro190=)
c.72-24149T>C (n.72-24149T>C)
c.2406T>C (p.Pro802=)
c.2021T>C
c.1558T>C
c.1306T>C
c.2484T>C (p.Pro828=)
c.2430T>C (p.Pro810=)
n.2499T>C
n.2587T>C
n.2459T>C
n.2335T>C
n.2595T>C
3g.47122230A>TCA433602027SETD2c.2274T>A (p.Pro758=)
c.2307T>A (p.Pro769=)
c.286T>A
c.347T>A
c.570T>A (p.Pro190=)
c.72-24149T>A (n.72-24149T>A)
c.2406T>A (p.Pro802=)
c.2021T>A
c.1558T>A
c.1306T>A
c.2484T>A (p.Pro828=)
c.2430T>A (p.Pro810=)
n.2499T>A
n.2587T>A
n.2459T>A
n.2335T>A
n.2595T>A
 dbSNP
3g.47122231G>ACA352526563SETD2c.2273C>T (p.Pro758Leu)
c.2306C>T (p.Pro769Leu)
c.285C>T
c.346C>T
c.569C>T (p.Pro190Leu)
c.72-24150C>T (n.72-24150C>T)
c.2405C>T (p.Pro802Leu)
c.2020C>T
c.1557C>T
c.1305C>T
c.2483C>T (p.Pro828Leu)
c.2429C>T (p.Pro810Leu)
n.2498C>T
n.2586C>T
n.2458C>T
n.2334C>T
n.2594C>T
3g.47122231G>CCA73810254SETD2c.2273C>G (p.Pro758Arg)
c.2306C>G (p.Pro769Arg)
c.285C>G
c.346C>G
c.569C>G (p.Pro190Arg)
c.72-24150C>G (n.72-24150C>G)
c.2405C>G (p.Pro802Arg)
c.2020C>G
c.1557C>G
c.1305C>G
c.2483C>G (p.Pro828Arg)
c.2429C>G (p.Pro810Arg)
n.2498C>G
n.2586C>G
n.2458C>G
n.2334C>G
n.2594C>G
 dbSNP gnomAD v4
3g.47122231G=CA1362418016SETD2c.2273C= (p.Pro758=)
c.2306C= (p.Pro769=)
c.285C=
c.346C=
c.569C= (p.Pro190=)
c.72-24150C= (n.72-24150C=)
c.2405C= (p.Pro802=)
c.2020C=
c.1557C=
c.1305C=
c.2483C= (p.Pro828=)
c.2429C= (p.Pro810=)
n.2498C=
n.2586C=
n.2458C=
n.2334C=
n.2594C=
3g.47122231G>TCA352526562SETD2c.2273C>A (p.Pro758His)
c.2306C>A (p.Pro769His)
c.285C>A
c.346C>A
c.569C>A (p.Pro190His)
c.72-24150C>A (n.72-24150C>A)
c.2405C>A (p.Pro802His)
c.2020C>A
c.1557C>A
c.1305C>A
c.2483C>A (p.Pro828His)
c.2429C>A (p.Pro810His)
n.2498C>A
n.2586C>A
n.2458C>A
n.2334C>A
n.2594C>A
3g.47122232G>ACA352526564SETD2c.2272C>T (p.Pro758Ser)
c.2305C>T (p.Pro769Ser)
c.284C>T
c.345C>T
c.568C>T (p.Pro190Ser)
c.72-24151C>T (n.72-24151C>T)
c.2404C>T (p.Pro802Ser)
c.2019C>T
c.1556C>T
c.1304C>T
c.2482C>T (p.Pro828Ser)
c.2428C>T (p.Pro810Ser)
n.2497C>T
n.2585C>T
n.2457C>T
n.2333C>T
n.2593C>T
 dbSNP
3g.47122232G>CCA352526566SETD2c.2272C>G (p.Pro758Ala)
c.2305C>G (p.Pro769Ala)
c.284C>G
c.345C>G
c.568C>G (p.Pro190Ala)
c.72-24151C>G (n.72-24151C>G)
c.2404C>G (p.Pro802Ala)
c.2019C>G
c.1556C>G
c.1304C>G
c.2482C>G (p.Pro828Ala)
c.2428C>G (p.Pro810Ala)
n.2497C>G
n.2585C>G
n.2457C>G
n.2333C>G
n.2593C>G
 dbSNP
3g.47122232G=CA1362418019SETD2c.2272C= (p.Pro758=)
c.2305C= (p.Pro769=)
c.284C=
c.345C=
c.568C= (p.Pro190=)
c.72-24151C= (n.72-24151C=)
c.2404C= (p.Pro802=)
c.2019C=
c.1556C=
c.1304C=
c.2482C= (p.Pro828=)
c.2428C= (p.Pro810=)
n.2497C=
n.2585C=
n.2457C=
n.2333C=
n.2593C=
3g.47122232G>TCA352526567SETD2c.2272C>A (p.Pro758Thr)
c.2305C>A (p.Pro769Thr)
c.284C>A
c.345C>A
c.568C>A (p.Pro190Thr)
c.72-24151C>A (n.72-24151C>A)
c.2404C>A (p.Pro802Thr)
c.2019C>A
c.1556C>A
c.1304C>A
c.2482C>A (p.Pro828Thr)
c.2428C>A (p.Pro810Thr)
n.2497C>A
n.2585C>A
n.2457C>A
n.2333C>A
n.2593C>A
 dbSNP
3g.47122233G>ACA2363538SETD2c.2271C>T (p.Asn757=)
c.2304C>T (p.Asn768=)
c.283C>T
c.344C>T
c.567C>T (p.Asn189=)
c.72-24152C>T (n.72-24152C>T)
c.2403C>T (p.Asn801=)
c.2018C>T
c.1555C>T
c.1303C>T
c.2481C>T (p.Asn827=)
c.2427C>T (p.Asn809=)
n.2496C>T
n.2584C>T
n.2456C>T
n.2332C>T
n.2592C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122233G>CCA352526570SETD2c.2271C>G (p.Asn757Lys)
c.2304C>G (p.Asn768Lys)
c.283C>G
c.344C>G
c.567C>G (p.Asn189Lys)
c.72-24152C>G (n.72-24152C>G)
c.2403C>G (p.Asn801Lys)
c.2018C>G
c.1555C>G
c.1303C>G
c.2481C>G (p.Asn827Lys)
c.2427C>G (p.Asn809Lys)
n.2496C>G
n.2584C>G
n.2456C>G
n.2332C>G
n.2592C>G
 dbSNP
3g.47122233G=CA1362418021SETD2c.2271C= (p.Asn757=)
c.2304C= (p.Asn768=)
c.283C=
c.344C=
c.567C= (p.Asn189=)
c.72-24152C= (n.72-24152C=)
c.2403C= (p.Asn801=)
c.2018C=
c.1555C=
c.1303C=
c.2481C= (p.Asn827=)
c.2427C= (p.Asn809=)
n.2496C=
n.2584C=
n.2456C=
n.2332C=
n.2592C=
3g.47122233G>TCA2363539SETD2c.2271C>A (p.Asn757Lys)
c.2304C>A (p.Asn768Lys)
c.283C>A
c.344C>A
c.567C>A (p.Asn189Lys)
c.72-24152C>A (n.72-24152C>A)
c.2403C>A (p.Asn801Lys)
c.2018C>A
c.1555C>A
c.1303C>A
c.2481C>A (p.Asn827Lys)
c.2427C>A (p.Asn809Lys)
n.2496C>A
n.2584C>A
n.2456C>A
n.2332C>A
n.2592C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122234T>ACA352526575SETD2c.2270A>T (p.Asn757Ile)
c.2303A>T (p.Asn768Ile)
c.282A>T
c.343A>T
c.566A>T (p.Asn189Ile)
c.72-24153A>T (n.72-24153A>T)
c.2402A>T (p.Asn801Ile)
c.2017A>T
c.1554A>T
c.1302A>T
c.2480A>T (p.Asn827Ile)
c.2426A>T (p.Asn809Ile)
n.2495A>T
n.2583A>T
n.2455A>T
n.2331A>T
n.2591A>T
 dbSNP
3g.47122234T>CCA352526573SETD2c.2270A>G (p.Asn757Ser)
c.2303A>G (p.Asn768Ser)
c.282A>G
c.343A>G
c.566A>G (p.Asn189Ser)
c.72-24153A>G (n.72-24153A>G)
c.2402A>G (p.Asn801Ser)
c.2017A>G
c.1554A>G
c.1302A>G
c.2480A>G (p.Asn827Ser)
c.2426A>G (p.Asn809Ser)
n.2495A>G
n.2583A>G
n.2455A>G
n.2331A>G
n.2591A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.47122234T>GCA352526574SETD2c.2270A>C (p.Asn757Thr)
c.2303A>C (p.Asn768Thr)
c.282A>C
c.343A>C
c.566A>C (p.Asn189Thr)
c.72-24153A>C (n.72-24153A>C)
c.2402A>C (p.Asn801Thr)
c.2017A>C
c.1554A>C
c.1302A>C
c.2480A>C (p.Asn827Thr)
c.2426A>C (p.Asn809Thr)
n.2495A>C
n.2583A>C
n.2455A>C
n.2331A>C
n.2591A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47122234T=CA1362418024SETD2c.2270A= (p.Asn757=)
c.2303A= (p.Asn768=)
c.282A=
c.343A=
c.566A= (p.Asn189=)
c.72-24153A= (n.72-24153A=)
c.2402A= (p.Asn801=)
c.2017A=
c.1554A=
c.1302A=
c.2480A= (p.Asn827=)
c.2426A= (p.Asn809=)
n.2495A=
n.2583A=
n.2455A=
n.2331A=
n.2591A=
3g.47122235T>ACA352526577SETD2c.2269A>T (p.Asn757Tyr)
c.2302A>T (p.Asn768Tyr)
c.281A>T
c.342A>T
c.565A>T (p.Asn189Tyr)
c.72-24154A>T (n.72-24154A>T)
c.2401A>T (p.Asn801Tyr)
c.2016A>T
c.1553A>T
c.1301A>T
c.2479A>T (p.Asn827Tyr)
c.2425A>T (p.Asn809Tyr)
n.2494A>T
n.2582A>T
n.2454A>T
n.2330A>T
n.2590A>T
 dbSNP gnomAD v2 gnomAD v4
3g.47122235T>CCA352526579SETD2c.2269A>G (p.Asn757Asp)
c.2302A>G (p.Asn768Asp)
c.281A>G
c.342A>G
c.565A>G (p.Asn189Asp)
c.72-24154A>G (n.72-24154A>G)
c.2401A>G (p.Asn801Asp)
c.2016A>G
c.1553A>G
c.1301A>G
c.2479A>G (p.Asn827Asp)
c.2425A>G (p.Asn809Asp)
n.2494A>G
n.2582A>G
n.2454A>G
n.2330A>G
n.2590A>G
 dbSNP
3g.47122235T>GCA352526580SETD2c.2269A>C (p.Asn757His)
c.2302A>C (p.Asn768His)
c.281A>C
c.342A>C
c.565A>C (p.Asn189His)
c.72-24154A>C (n.72-24154A>C)
c.2401A>C (p.Asn801His)
c.2016A>C
c.1553A>C
c.1301A>C
c.2479A>C (p.Asn827His)
c.2425A>C (p.Asn809His)
n.2494A>C
n.2582A>C
n.2454A>C
n.2330A>C
n.2590A>C
 dbSNP
3g.47122235T=CA1362418026SETD2c.2269A= (p.Asn757=)
c.2302A= (p.Asn768=)
c.281A=
c.342A=
c.565A= (p.Asn189=)
c.72-24154A= (n.72-24154A=)
c.2401A= (p.Asn801=)
c.2016A=
c.1553A=
c.1301A=
c.2479A= (p.Asn827=)
c.2425A= (p.Asn809=)
n.2494A=
n.2582A=
n.2454A=
n.2330A=
n.2590A=
3g.47122236G>ACA433602039SETD2c.2268C>T (p.Ser756=)
c.2301C>T (p.Ser767=)
c.280C>T
c.341C>T
c.564C>T (p.Ser188=)
c.72-24155C>T (n.72-24155C>T)
c.2400C>T (p.Ser800=)
c.2015C>T
c.1552C>T
c.1300C>T
c.2478C>T (p.Ser826=)
c.2424C>T (p.Ser808=)
n.2493C>T
n.2581C>T
n.2453C>T
n.2329C>T
n.2589C>T
 dbSNP COSMIC COSMIC
3g.47122236G>CCA352526581SETD2c.2268C>G (p.Ser756Arg)
c.2301C>G (p.Ser767Arg)
c.280C>G
c.341C>G
c.564C>G (p.Ser188Arg)
c.72-24155C>G (n.72-24155C>G)
c.2400C>G (p.Ser800Arg)
c.2015C>G
c.1552C>G
c.1300C>G
c.2478C>G (p.Ser826Arg)
c.2424C>G (p.Ser808Arg)
n.2493C>G
n.2581C>G
n.2453C>G
n.2329C>G
n.2589C>G
 dbSNP
3g.47122236G>TCA352526582SETD2c.2268C>A (p.Ser756Arg)
c.2301C>A (p.Ser767Arg)
c.280C>A
c.341C>A
c.564C>A (p.Ser188Arg)
c.72-24155C>A (n.72-24155C>A)
c.2400C>A (p.Ser800Arg)
c.2015C>A
c.1552C>A
c.1300C>A
c.2478C>A (p.Ser826Arg)
c.2424C>A (p.Ser808Arg)
n.2493C>A
n.2581C>A
n.2453C>A
n.2329C>A
n.2589C>A
 dbSNP
3g.47122237C>ACA352526584SETD2c.2267G>T (p.Ser756Ile)
c.2300G>T (p.Ser767Ile)
c.279G>T
c.340G>T
c.563G>T (p.Ser188Ile)
c.72-24156G>T (n.72-24156G>T)
c.2399G>T (p.Ser800Ile)
c.2014G>T
c.1551G>T
c.1299G>T
c.2477G>T (p.Ser826Ile)
c.2423G>T (p.Ser808Ile)
n.2492G>T
n.2580G>T
n.2452G>T
n.2328G>T
n.2588G>T
 dbSNP
3g.47122237C=CA1362418027SETD2c.2267G= (p.Ser756=)
c.2300G= (p.Ser767=)
c.279G=
c.340G=
c.563G= (p.Ser188=)
c.72-24156G= (n.72-24156G=)
c.2399G= (p.Ser800=)
c.2014G=
c.1551G=
c.1299G=
c.2477G= (p.Ser826=)
c.2423G= (p.Ser808=)
n.2492G=
n.2580G=
n.2452G=
n.2328G=
n.2588G=
3g.47122237C>GCA352526588SETD2c.2267G>C (p.Ser756Thr)
c.2300G>C (p.Ser767Thr)
c.279G>C
c.340G>C
c.563G>C (p.Ser188Thr)
c.72-24156G>C (n.72-24156G>C)
c.2399G>C (p.Ser800Thr)
c.2014G>C
c.1551G>C
c.1299G>C
c.2477G>C (p.Ser826Thr)
c.2423G>C (p.Ser808Thr)
n.2492G>C
n.2580G>C
n.2452G>C
n.2328G>C
n.2588G>C
 dbSNP
3g.47122237C>TCA352526586SETD2c.2267G>A (p.Ser756Asn)
c.2300G>A (p.Ser767Asn)
c.279G>A
c.340G>A
c.563G>A (p.Ser188Asn)
c.72-24156G>A (n.72-24156G>A)
c.2399G>A (p.Ser800Asn)
c.2014G>A
c.1551G>A
c.1299G>A
c.2477G>A (p.Ser826Asn)
c.2423G>A (p.Ser808Asn)
n.2492G>A
n.2580G>A
n.2452G>A
n.2328G>A
n.2588G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47122238T>ACA352526589SETD2c.2266A>T (p.Ser756Cys)
c.2299A>T (p.Ser767Cys)
c.278A>T
c.339A>T
c.562A>T (p.Ser188Cys)
c.72-24157A>T (n.72-24157A>T)
c.2398A>T (p.Ser800Cys)
c.2013A>T
c.1550A>T
c.1298A>T
c.2476A>T (p.Ser826Cys)
c.2422A>T (p.Ser808Cys)
n.2491A>T
n.2579A>T
n.2451A>T
n.2327A>T
n.2587A>T
 dbSNP
3g.47122238T>CCA352526590SETD2c.2266A>G (p.Ser756Gly)
c.2299A>G (p.Ser767Gly)
c.278A>G
c.339A>G
c.562A>G (p.Ser188Gly)
c.72-24157A>G (n.72-24157A>G)
c.2398A>G (p.Ser800Gly)
c.2013A>G
c.1550A>G
c.1298A>G
c.2476A>G (p.Ser826Gly)
c.2422A>G (p.Ser808Gly)
n.2491A>G
n.2579A>G
n.2451A>G
n.2327A>G
n.2587A>G
 dbSNP
3g.47122238T>GCA352526592SETD2c.2266A>C (p.Ser756Arg)
c.2299A>C (p.Ser767Arg)
c.278A>C
c.339A>C
c.562A>C (p.Ser188Arg)
c.72-24157A>C (n.72-24157A>C)
c.2398A>C (p.Ser800Arg)
c.2013A>C
c.1550A>C
c.1298A>C
c.2476A>C (p.Ser826Arg)
c.2422A>C (p.Ser808Arg)
n.2491A>C
n.2579A>C
n.2451A>C
n.2327A>C
n.2587A>C
3g.47122239A>CCA352526594SETD2c.2265T>G (p.Asp755Glu)
c.2298T>G (p.Asp766Glu)
c.277T>G
c.338T>G
c.561T>G (p.Asp187Glu)
c.72-24158T>G (n.72-24158T>G)
c.2397T>G (p.Asp799Glu)
c.2012T>G
c.1549T>G
c.1297T>G
c.2475T>G (p.Asp825Glu)
c.2421T>G (p.Asp807Glu)
n.2490T>G
n.2578T>G
n.2450T>G
n.2326T>G
n.2586T>G
 dbSNP
3g.47122239A>GCA433602044SETD2c.2265T>C (p.Asp755=)
c.2298T>C (p.Asp766=)
c.277T>C
c.338T>C
c.561T>C (p.Asp187=)
c.72-24158T>C (n.72-24158T>C)
c.2397T>C (p.Asp799=)
c.2012T>C
c.1549T>C
c.1297T>C
c.2475T>C (p.Asp825=)
c.2421T>C (p.Asp807=)
n.2490T>C
n.2578T>C
n.2450T>C
n.2326T>C
n.2586T>C
 gnomAD v4
3g.47122239A>TCA352526595SETD2c.2265T>A (p.Asp755Glu)
c.2298T>A (p.Asp766Glu)
c.277T>A
c.338T>A
c.561T>A (p.Asp187Glu)
c.72-24158T>A (n.72-24158T>A)
c.2397T>A (p.Asp799Glu)
c.2012T>A
c.1549T>A
c.1297T>A
c.2475T>A (p.Asp825Glu)
c.2421T>A (p.Asp807Glu)
n.2490T>A
n.2578T>A
n.2450T>A
n.2326T>A
n.2586T>A
 dbSNP
3g.47122240T>ACA352526596SETD2c.2264A>T (p.Asp755Val)
c.2297A>T (p.Asp766Val)
c.276A>T
c.337A>T
c.560A>T (p.Asp187Val)
c.72-24159A>T (n.72-24159A>T)
c.2396A>T (p.Asp799Val)
c.2011A>T
c.1548A>T
c.1296A>T
c.2474A>T (p.Asp825Val)
c.2420A>T (p.Asp807Val)
n.2489A>T
n.2577A>T
n.2449A>T
n.2325A>T
n.2585A>T
 dbSNP
3g.47122240T>CCA352526597SETD2c.2264A>G (p.Asp755Gly)
c.2297A>G (p.Asp766Gly)
c.276A>G
c.337A>G
c.560A>G (p.Asp187Gly)
c.72-24159A>G (n.72-24159A>G)
c.2396A>G (p.Asp799Gly)
c.2011A>G
c.1548A>G
c.1296A>G
c.2474A>G (p.Asp825Gly)
c.2420A>G (p.Asp807Gly)
n.2489A>G
n.2577A>G
n.2449A>G
n.2325A>G
n.2585A>G
3g.47122240T>GCA352526599SETD2c.2264A>C (p.Asp755Ala)
c.2297A>C (p.Asp766Ala)
c.276A>C
c.337A>C
c.560A>C (p.Asp187Ala)
c.72-24159A>C (n.72-24159A>C)
c.2396A>C (p.Asp799Ala)
c.2011A>C
c.1548A>C
c.1296A>C
c.2474A>C (p.Asp825Ala)
c.2420A>C (p.Asp807Ala)
n.2489A>C
n.2577A>C
n.2449A>C
n.2325A>C
n.2585A>C
 dbSNP
3g.47122241C>ACA352526601SETD2c.2263G>T (p.Asp755Tyr)
c.2296G>T (p.Asp766Tyr)
c.275G>T
c.336G>T
c.559G>T (p.Asp187Tyr)
c.72-24160G>T (n.72-24160G>T)
c.2395G>T (p.Asp799Tyr)
c.2010G>T
c.1547G>T
c.1295G>T
c.2473G>T (p.Asp825Tyr)
c.2419G>T (p.Asp807Tyr)
n.2488G>T
n.2576G>T
n.2448G>T
n.2324G>T
n.2584G>T
 dbSNP
3g.47122241C=CA1362418028SETD2c.2263G= (p.Asp755=)
c.2296G= (p.Asp766=)
c.275G=
c.336G=
c.559G= (p.Asp187=)
c.72-24160G= (n.72-24160G=)
c.2395G= (p.Asp799=)
c.2010G=
c.1547G=
c.1295G=
c.2473G= (p.Asp825=)
c.2419G= (p.Asp807=)
n.2488G=
n.2576G=
n.2448G=
n.2324G=
n.2584G=
3g.47122241C>GCA352526603SETD2c.2263G>C (p.Asp755His)
c.2296G>C (p.Asp766His)
c.275G>C
c.336G>C
c.559G>C (p.Asp187His)
c.72-24160G>C (n.72-24160G>C)
c.2395G>C (p.Asp799His)
c.2010G>C
c.1547G>C
c.1295G>C
c.2473G>C (p.Asp825His)
c.2419G>C (p.Asp807His)
n.2488G>C
n.2576G>C
n.2448G>C
n.2324G>C
n.2584G>C
 dbSNP
3g.47122241C>TCA2363540SETD2c.2263G>A (p.Asp755Asn)
c.2296G>A (p.Asp766Asn)
c.275G>A
c.336G>A
c.559G>A (p.Asp187Asn)
c.72-24160G>A (n.72-24160G>A)
c.2395G>A (p.Asp799Asn)
c.2010G>A
c.1547G>A
c.1295G>A
c.2473G>A (p.Asp825Asn)
c.2419G>A (p.Asp807Asn)
n.2488G>A
n.2576G>A
n.2448G>A
n.2324G>A
n.2584G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122242G>ACA2363541SETD2c.2262C>T (p.Asn754=)
c.2295C>T (p.Asn765=)
c.274C>T
c.335C>T
c.558C>T (p.Asn186=)
c.72-24161C>T (n.72-24161C>T)
c.2394C>T (p.Asn798=)
c.2009C>T
c.1546C>T
c.1294C>T
c.2472C>T (p.Asn824=)
c.2418C>T (p.Asn806=)
n.2487C>T
n.2575C>T
n.2447C>T
n.2323C>T
n.2583C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122242G>CCA352526607SETD2c.2262C>G (p.Asn754Lys)
c.2295C>G (p.Asn765Lys)
c.274C>G
c.335C>G
c.558C>G (p.Asn186Lys)
c.72-24161C>G (n.72-24161C>G)
c.2394C>G (p.Asn798Lys)
c.2009C>G
c.1546C>G
c.1294C>G
c.2472C>G (p.Asn824Lys)
c.2418C>G (p.Asn806Lys)
n.2487C>G
n.2575C>G
n.2447C>G
n.2323C>G
n.2583C>G
 dbSNP
3g.47122242G=CA1362418029SETD2c.2262C= (p.Asn754=)
c.2295C= (p.Asn765=)
c.274C=
c.335C=
c.558C= (p.Asn186=)
c.72-24161C= (n.72-24161C=)
c.2394C= (p.Asn798=)
c.2009C=
c.1546C=
c.1294C=
c.2472C= (p.Asn824=)
c.2418C= (p.Asn806=)
n.2487C=
n.2575C=
n.2447C=
n.2323C=
n.2583C=
3g.47122242G>TCA352526604SETD2c.2262C>A (p.Asn754Lys)
c.2295C>A (p.Asn765Lys)
c.274C>A
c.335C>A
c.558C>A (p.Asn186Lys)
c.72-24161C>A (n.72-24161C>A)
c.2394C>A (p.Asn798Lys)
c.2009C>A
c.1546C>A
c.1294C>A
c.2472C>A (p.Asn824Lys)
c.2418C>A (p.Asn806Lys)
n.2487C>A
n.2575C>A
n.2447C>A
n.2323C>A
n.2583C>A
 dbSNP
3g.47122244_47122255delCA2577578200SETD2c.2251_2262del (p.Cys751_Asn754del)
c.2284_2295del (p.Cys762_Asn765del)
c.263_274del
c.324_335del
c.547_558del (p.Cys183_Asn186del)
c.72-24172_72-24161del (n.72-24172_72-24161del)
c.2383_2394del (p.Cys795_Asn798del)
c.1998_2009del
c.1535_1546del
c.1283_1294del
c.2461_2472del (p.Cys821_Asn824del)
c.2407_2418del (p.Cys803_Asn806del)
n.2476_2487del
n.2564_2575del
n.2436_2447del
n.2312_2323del
n.2572_2583del
3g.47122243T>ACA352526609SETD2c.2261A>T (p.Asn754Ile)
c.2294A>T (p.Asn765Ile)
c.273A>T
c.334A>T
c.557A>T (p.Asn186Ile)
c.72-24162A>T (n.72-24162A>T)
c.2393A>T (p.Asn798Ile)
c.2008A>T
c.1545A>T
c.1293A>T
c.2471A>T (p.Asn824Ile)
c.2417A>T (p.Asn806Ile)
n.2486A>T
n.2574A>T
n.2446A>T
n.2322A>T
n.2582A>T
 dbSNP
3g.47122243T>CCA352526612SETD2c.2261A>G (p.Asn754Ser)
c.2294A>G (p.Asn765Ser)
c.273A>G
c.334A>G
c.557A>G (p.Asn186Ser)
c.72-24162A>G (n.72-24162A>G)
c.2393A>G (p.Asn798Ser)
c.2008A>G
c.1545A>G
c.1293A>G
c.2471A>G (p.Asn824Ser)
c.2417A>G (p.Asn806Ser)
n.2486A>G
n.2574A>G
n.2446A>G
n.2322A>G
n.2582A>G
 dbSNP
3g.47122243T>GCA352526610SETD2c.2261A>C (p.Asn754Thr)
c.2294A>C (p.Asn765Thr)
c.273A>C
c.334A>C
c.557A>C (p.Asn186Thr)
c.72-24162A>C (n.72-24162A>C)
c.2393A>C (p.Asn798Thr)
c.2008A>C
c.1545A>C
c.1293A>C
c.2471A>C (p.Asn824Thr)
c.2417A>C (p.Asn806Thr)
n.2486A>C
n.2574A>C
n.2446A>C
n.2322A>C
n.2582A>C
 dbSNP
3g.47122244T>ACA352526613SETD2c.2260A>T (p.Asn754Tyr)
c.2293A>T (p.Asn765Tyr)
c.272A>T
c.333A>T
c.556A>T (p.Asn186Tyr)
c.72-24163A>T (n.72-24163A>T)
c.2392A>T (p.Asn798Tyr)
c.2007A>T
c.1544A>T
c.1292A>T
c.2470A>T (p.Asn824Tyr)
c.2416A>T (p.Asn806Tyr)
n.2485A>T
n.2573A>T
n.2445A>T
n.2321A>T
n.2581A>T
3g.47122244T>CCA352526617SETD2c.2260A>G (p.Asn754Asp)
c.2293A>G (p.Asn765Asp)
c.272A>G
c.333A>G
c.556A>G (p.Asn186Asp)
c.72-24163A>G (n.72-24163A>G)
c.2392A>G (p.Asn798Asp)
c.2007A>G
c.1544A>G
c.1292A>G
c.2470A>G (p.Asn824Asp)
c.2416A>G (p.Asn806Asp)
n.2485A>G
n.2573A>G
n.2445A>G
n.2321A>G
n.2581A>G
 dbSNP
3g.47122244T>GCA352526615SETD2c.2260A>C (p.Asn754His)
c.2293A>C (p.Asn765His)
c.272A>C
c.333A>C
c.556A>C (p.Asn186His)
c.72-24163A>C (n.72-24163A>C)
c.2392A>C (p.Asn798His)
c.2007A>C
c.1544A>C
c.1292A>C
c.2470A>C (p.Asn824His)
c.2416A>C (p.Asn806His)
n.2485A>C
n.2573A>C
n.2445A>C
n.2321A>C
n.2581A>C
 dbSNP
3g.47122245C>ACA352526618SETD2c.2259G>T (p.Leu753Phe)
c.2292G>T (p.Leu764Phe)
c.271G>T
c.332G>T
c.555G>T (p.Leu185Phe)
c.72-24164G>T (n.72-24164G>T)
c.2391G>T (p.Leu797Phe)
c.2006G>T
c.1543G>T
c.1291G>T
c.2469G>T (p.Leu823Phe)
c.2415G>T (p.Leu805Phe)
n.2484G>T
n.2572G>T
n.2444G>T
n.2320G>T
n.2580G>T
 gnomAD v4
3g.47122245C=CA1362418031SETD2c.2259G= (p.Leu753=)
c.2292G= (p.Leu764=)
c.271G=
c.332G=
c.555G= (p.Leu185=)
c.72-24164G= (n.72-24164G=)
c.2391G= (p.Leu797=)
c.2006G=
c.1543G=
c.1291G=
c.2469G= (p.Leu823=)
c.2415G= (p.Leu805=)
n.2484G=
n.2572G=
n.2444G=
n.2320G=
n.2580G=
3g.47122245C>GCA352526620SETD2c.2259G>C (p.Leu753Phe)
c.2292G>C (p.Leu764Phe)
c.271G>C
c.332G>C
c.555G>C (p.Leu185Phe)
c.72-24164G>C (n.72-24164G>C)
c.2391G>C (p.Leu797Phe)
c.2006G>C
c.1543G>C
c.1291G>C
c.2469G>C (p.Leu823Phe)
c.2415G>C (p.Leu805Phe)
n.2484G>C
n.2572G>C
n.2444G>C
n.2320G>C
n.2580G>C
 gnomAD v4
3g.47122245C>TCA73810313SETD2c.2259G>A (p.Leu753=)
c.2292G>A (p.Leu764=)
c.271G>A
c.332G>A
c.555G>A (p.Leu185=)
c.72-24164G>A (n.72-24164G>A)
c.2391G>A (p.Leu797=)
c.2006G>A
c.1543G>A
c.1291G>A
c.2469G>A (p.Leu823=)
c.2415G>A (p.Leu805=)
n.2484G>A
n.2572G>A
n.2444G>A
n.2320G>A
n.2580G>A
 dbSNP gnomAD v4
3g.47122246A>CCA352526621SETD2c.2258T>G (p.Leu753Trp)
c.2291T>G (p.Leu764Trp)
c.270T>G
c.331T>G
c.554T>G (p.Leu185Trp)
c.72-24165T>G (n.72-24165T>G)
c.2390T>G (p.Leu797Trp)
c.2005T>G
c.1542T>G
c.1290T>G
c.2468T>G (p.Leu823Trp)
c.2414T>G (p.Leu805Trp)
n.2483T>G
n.2571T>G
n.2443T>G
n.2319T>G
n.2579T>G
3g.47122246A>GCA352526622SETD2c.2258T>C (p.Leu753Ser)
c.2291T>C (p.Leu764Ser)
c.270T>C
c.331T>C
c.554T>C (p.Leu185Ser)
c.72-24165T>C (n.72-24165T>C)
c.2390T>C (p.Leu797Ser)
c.2005T>C
c.1542T>C
c.1290T>C
c.2468T>C (p.Leu823Ser)
c.2414T>C (p.Leu805Ser)
n.2483T>C
n.2571T>C
n.2443T>C
n.2319T>C
n.2579T>C
3g.47122246A>TCA352526624SETD2c.2258T>A (p.Leu753Ter)
c.2291T>A (p.Leu764Ter)
c.270T>A
c.331T>A
c.554T>A (p.Leu185Ter)
c.72-24165T>A (n.72-24165T>A)
c.2390T>A (p.Leu797Ter)
c.2005T>A
c.1542T>A
c.1290T>A
c.2468T>A (p.Leu823Ter)
c.2414T>A (p.Leu805Ter)
n.2483T>A
n.2571T>A
n.2443T>A
n.2319T>A
n.2579T>A
 dbSNP
3g.47122247A>CCA352526625SETD2c.2257T>G (p.Leu753Val)
c.2290T>G (p.Leu764Val)
c.269T>G
c.330T>G
c.553T>G (p.Leu185Val)
c.72-24166T>G (n.72-24166T>G)
c.2389T>G (p.Leu797Val)
c.2004T>G
c.1541T>G
c.1289T>G
c.2467T>G (p.Leu823Val)
c.2413T>G (p.Leu805Val)
n.2482T>G
n.2570T>G
n.2442T>G
n.2318T>G
n.2578T>G
3g.47122247A>GCA433602052SETD2c.2257T>C (p.Leu753=)
c.2290T>C (p.Leu764=)
c.269T>C
c.330T>C
c.553T>C (p.Leu185=)
c.72-24166T>C (n.72-24166T>C)
c.2389T>C (p.Leu797=)
c.2004T>C
c.1541T>C
c.1289T>C
c.2467T>C (p.Leu823=)
c.2413T>C (p.Leu805=)
n.2482T>C
n.2570T>C
n.2442T>C
n.2318T>C
n.2578T>C
 dbSNP
3g.47122247A>TCA352526626SETD2c.2257T>A (p.Leu753Met)
c.2290T>A (p.Leu764Met)
c.269T>A
c.330T>A
c.553T>A (p.Leu185Met)
c.72-24166T>A (n.72-24166T>A)
c.2389T>A (p.Leu797Met)
c.2004T>A
c.1541T>A
c.1289T>A
c.2467T>A (p.Leu823Met)
c.2413T>A (p.Leu805Met)
n.2482T>A
n.2570T>A
n.2442T>A
n.2318T>A
n.2578T>A
 dbSNP
3g.47122248A>CCA433602054SETD2c.2256T>G (p.Thr752=)
c.2289T>G (p.Thr763=)
c.268T>G
c.329T>G
c.552T>G (p.Thr184=)
c.72-24167T>G (n.72-24167T>G)
c.2388T>G (p.Thr796=)
c.2003T>G
c.1540T>G
c.1288T>G
c.2466T>G (p.Thr822=)
c.2412T>G (p.Thr804=)
n.2481T>G
n.2569T>G
n.2441T>G
n.2317T>G
n.2577T>G
3g.47122248A>GCA433602055SETD2c.2256T>C (p.Thr752=)
c.2289T>C (p.Thr763=)
c.268T>C
c.329T>C
c.552T>C (p.Thr184=)
c.72-24167T>C (n.72-24167T>C)
c.2388T>C (p.Thr796=)
c.2003T>C
c.1540T>C
c.1288T>C
c.2466T>C (p.Thr822=)
c.2412T>C (p.Thr804=)
n.2481T>C
n.2569T>C
n.2441T>C
n.2317T>C
n.2577T>C
 dbSNP
3g.47122248A>TCA433602056SETD2c.2256T>A (p.Thr752=)
c.2289T>A (p.Thr763=)
c.268T>A
c.329T>A
c.552T>A (p.Thr184=)
c.72-24167T>A (n.72-24167T>A)
c.2388T>A (p.Thr796=)
c.2003T>A
c.1540T>A
c.1288T>A
c.2466T>A (p.Thr822=)
c.2412T>A (p.Thr804=)
n.2481T>A
n.2569T>A
n.2441T>A
n.2317T>A
n.2577T>A
 dbSNP
3g.47122249G>ACA73810318SETD2c.2255C>T (p.Thr752Ile)
c.2288C>T (p.Thr763Ile)
c.267C>T
c.328C>T
c.551C>T (p.Thr184Ile)
c.72-24168C>T (n.72-24168C>T)
c.2387C>T (p.Thr796Ile)
c.2002C>T
c.1539C>T
c.1287C>T
c.2465C>T (p.Thr822Ile)
c.2411C>T (p.Thr804Ile)
n.2480C>T
n.2568C>T
n.2440C>T
n.2316C>T
n.2576C>T
 dbSNP gnomAD v4
3g.47122249G>CCA352526628SETD2c.2255C>G (p.Thr752Ser)
c.2288C>G (p.Thr763Ser)
c.267C>G
c.328C>G
c.551C>G (p.Thr184Ser)
c.72-24168C>G (n.72-24168C>G)
c.2387C>G (p.Thr796Ser)
c.2002C>G
c.1539C>G
c.1287C>G
c.2465C>G (p.Thr822Ser)
c.2411C>G (p.Thr804Ser)
n.2480C>G
n.2568C>G
n.2440C>G
n.2316C>G
n.2576C>G
 dbSNP
3g.47122249G=CA1362418034SETD2c.2255C= (p.Thr752=)
c.2288C= (p.Thr763=)
c.267C=
c.328C=
c.551C= (p.Thr184=)
c.72-24168C= (n.72-24168C=)
c.2387C= (p.Thr796=)
c.2002C=
c.1539C=
c.1287C=
c.2465C= (p.Thr822=)
c.2411C= (p.Thr804=)
n.2480C=
n.2568C=
n.2440C=
n.2316C=
n.2576C=
3g.47122249G>TCA352526630SETD2c.2255C>A (p.Thr752Asn)
c.2288C>A (p.Thr763Asn)
c.267C>A
c.328C>A
c.551C>A (p.Thr184Asn)
c.72-24168C>A (n.72-24168C>A)
c.2387C>A (p.Thr796Asn)
c.2002C>A
c.1539C>A
c.1287C>A
c.2465C>A (p.Thr822Asn)
c.2411C>A (p.Thr804Asn)
n.2480C>A
n.2568C>A
n.2440C>A
n.2316C>A
n.2576C>A
3g.47122250T>ACA352526631SETD2c.2254A>T (p.Thr752Ser)
c.2287A>T (p.Thr763Ser)
c.266A>T
c.327A>T
c.550A>T (p.Thr184Ser)
c.72-24169A>T (n.72-24169A>T)
c.2386A>T (p.Thr796Ser)
c.2001A>T
c.1538A>T
c.1286A>T
c.2464A>T (p.Thr822Ser)
c.2410A>T (p.Thr804Ser)
n.2479A>T
n.2567A>T
n.2439A>T
n.2315A>T
n.2575A>T
 dbSNP
3g.47122250T>CCA352526632SETD2c.2254A>G (p.Thr752Ala)
c.2287A>G (p.Thr763Ala)
c.266A>G
c.327A>G
c.550A>G (p.Thr184Ala)
c.72-24169A>G (n.72-24169A>G)
c.2386A>G (p.Thr796Ala)
c.2001A>G
c.1538A>G
c.1286A>G
c.2464A>G (p.Thr822Ala)
c.2410A>G (p.Thr804Ala)
n.2479A>G
n.2567A>G
n.2439A>G
n.2315A>G
n.2575A>G
 dbSNP
3g.47122250T>GCA352526633SETD2c.2254A>C (p.Thr752Pro)
c.2287A>C (p.Thr763Pro)
c.266A>C
c.327A>C
c.550A>C (p.Thr184Pro)
c.72-24169A>C (n.72-24169A>C)
c.2386A>C (p.Thr796Pro)
c.2001A>C
c.1538A>C
c.1286A>C
c.2464A>C (p.Thr822Pro)
c.2410A>C (p.Thr804Pro)
n.2479A>C
n.2567A>C
n.2439A>C
n.2315A>C
n.2575A>C
 dbSNP
3g.47122251A>CCA352526636SETD2c.2253T>G (p.Cys751Trp)
c.2286T>G (p.Cys762Trp)
c.265T>G
c.326T>G
c.549T>G (p.Cys183Trp)
c.72-24170T>G (n.72-24170T>G)
c.2385T>G (p.Cys795Trp)
c.2000T>G
c.1537T>G
c.1285T>G
c.2463T>G (p.Cys821Trp)
c.2409T>G (p.Cys803Trp)
n.2478T>G
n.2566T>G
n.2438T>G
n.2314T>G
n.2574T>G
 dbSNP
3g.47122251A>GCA433602062SETD2c.2253T>C (p.Cys751=)
c.2286T>C (p.Cys762=)
c.265T>C
c.326T>C
c.549T>C (p.Cys183=)
c.72-24170T>C (n.72-24170T>C)
c.2385T>C (p.Cys795=)
c.2000T>C
c.1537T>C
c.1285T>C
c.2463T>C (p.Cys821=)
c.2409T>C (p.Cys803=)
n.2478T>C
n.2566T>C
n.2438T>C
n.2314T>C
n.2574T>C
 dbSNP
3g.47122251A>TCA352526634SETD2c.2253T>A (p.Cys751Ter)
c.2286T>A (p.Cys762Ter)
c.265T>A
c.326T>A
c.549T>A (p.Cys183Ter)
c.72-24170T>A (n.72-24170T>A)
c.2385T>A (p.Cys795Ter)
c.2000T>A
c.1537T>A
c.1285T>A
c.2463T>A (p.Cys821Ter)
c.2409T>A (p.Cys803Ter)
n.2478T>A
n.2566T>A
n.2438T>A
n.2314T>A
n.2574T>A
 dbSNP
3g.47122252C>ACA352526637SETD2c.2252G>T (p.Cys751Phe)
c.2285G>T (p.Cys762Phe)
c.264G>T
c.325G>T
c.548G>T (p.Cys183Phe)
c.72-24171G>T (n.72-24171G>T)
c.2384G>T (p.Cys795Phe)
c.1999G>T
c.1536G>T
c.1284G>T
c.2462G>T (p.Cys821Phe)
c.2408G>T (p.Cys803Phe)
n.2477G>T
n.2565G>T
n.2437G>T
n.2313G>T
n.2573G>T
 dbSNP gnomAD v2 gnomAD v4
3g.47122252C=CA1362418035SETD2c.2252G= (p.Cys751=)
c.2285G= (p.Cys762=)
c.264G=
c.325G=
c.548G= (p.Cys183=)
c.72-24171G= (n.72-24171G=)
c.2384G= (p.Cys795=)
c.1999G=
c.1536G=
c.1284G=
c.2462G= (p.Cys821=)
c.2408G= (p.Cys803=)
n.2477G=
n.2565G=
n.2437G=
n.2313G=
n.2573G=
3g.47122252C>GCA352526639SETD2c.2252G>C (p.Cys751Ser)
c.2285G>C (p.Cys762Ser)
c.264G>C
c.325G>C
c.548G>C (p.Cys183Ser)
c.72-24171G>C (n.72-24171G>C)
c.2384G>C (p.Cys795Ser)
c.1999G>C
c.1536G>C
c.1284G>C
c.2462G>C (p.Cys821Ser)
c.2408G>C (p.Cys803Ser)
n.2477G>C
n.2565G>C
n.2437G>C
n.2313G>C
n.2573G>C
 ClinVar dbSNP gnomAD v4
3g.47122252C>TCA352526641SETD2c.2252G>A (p.Cys751Tyr)
c.2285G>A (p.Cys762Tyr)
c.264G>A
c.325G>A
c.548G>A (p.Cys183Tyr)
c.72-24171G>A (n.72-24171G>A)
c.2384G>A (p.Cys795Tyr)
c.1999G>A
c.1536G>A
c.1284G>A
c.2462G>A (p.Cys821Tyr)
c.2408G>A (p.Cys803Tyr)
n.2477G>A
n.2565G>A
n.2437G>A
n.2313G>A
n.2573G>A
 dbSNP
3g.47122253A=CA1362418036SETD2c.2251T= (p.Cys751=)
c.2284T= (p.Cys762=)
c.263T=
c.324T=
c.547T= (p.Cys183=)
c.72-24172T= (n.72-24172T=)
c.2383T= (p.Cys795=)
c.1998T=
c.1535T=
c.1283T=
c.2461T= (p.Cys821=)
c.2407T= (p.Cys803=)
n.2476T=
n.2564T=
n.2436T=
n.2312T=
n.2572T=
3g.47122253A>CCA352526642SETD2c.2251T>G (p.Cys751Gly)
c.2284T>G (p.Cys762Gly)
c.263T>G
c.324T>G
c.547T>G (p.Cys183Gly)
c.72-24172T>G (n.72-24172T>G)
c.2383T>G (p.Cys795Gly)
c.1998T>G
c.1535T>G
c.1283T>G
c.2461T>G (p.Cys821Gly)
c.2407T>G (p.Cys803Gly)
n.2476T>G
n.2564T>G
n.2436T>G
n.2312T>G
n.2572T>G
3g.47122253A>GCA352526644SETD2c.2251T>C (p.Cys751Arg)
c.2284T>C (p.Cys762Arg)
c.263T>C
c.324T>C
c.547T>C (p.Cys183Arg)
c.72-24172T>C (n.72-24172T>C)
c.2383T>C (p.Cys795Arg)
c.1998T>C
c.1535T>C
c.1283T>C
c.2461T>C (p.Cys821Arg)
c.2407T>C (p.Cys803Arg)
n.2476T>C
n.2564T>C
n.2436T>C
n.2312T>C
n.2572T>C
 dbSNP gnomAD v2 gnomAD v4
3g.47122253A>TCA352526646SETD2c.2251T>A (p.Cys751Ser)
c.2284T>A (p.Cys762Ser)
c.263T>A
c.324T>A
c.547T>A (p.Cys183Ser)
c.72-24172T>A (n.72-24172T>A)
c.2383T>A (p.Cys795Ser)
c.1998T>A
c.1535T>A
c.1283T>A
c.2461T>A (p.Cys821Ser)
c.2407T>A (p.Cys803Ser)
n.2476T>A
n.2564T>A
n.2436T>A
n.2312T>A
n.2572T>A
 dbSNP
3g.47122254G>ACA73810327SETD2c.2250C>T (p.Tyr750=)
c.2283C>T (p.Tyr761=)
c.262C>T
c.323C>T
c.546C>T (p.Tyr182=)
c.72-24173C>T (n.72-24173C>T)
c.2382C>T (p.Tyr794=)
c.1997C>T
c.1534C>T
c.1282C>T
c.2460C>T (p.Tyr820=)
c.2406C>T (p.Tyr802=)
n.2475C>T
n.2563C>T
n.2435C>T
n.2311C>T
n.2571C>T
 dbSNP gnomAD v4
3g.47122254G>CCA352526649SETD2c.2250C>G (p.Tyr750Ter)
c.2283C>G (p.Tyr761Ter)
c.262C>G
c.323C>G
c.546C>G (p.Tyr182Ter)
c.72-24173C>G (n.72-24173C>G)
c.2382C>G (p.Tyr794Ter)
c.1997C>G
c.1534C>G
c.1282C>G
c.2460C>G (p.Tyr820Ter)
c.2406C>G (p.Tyr802Ter)
n.2475C>G
n.2563C>G
n.2435C>G
n.2311C>G
n.2571C>G
 dbSNP
3g.47122254G=CA1362418038SETD2c.2250C= (p.Tyr750=)
c.2283C= (p.Tyr761=)
c.262C=
c.323C=
c.546C= (p.Tyr182=)
c.72-24173C= (n.72-24173C=)
c.2382C= (p.Tyr794=)
c.1997C=
c.1534C=
c.1282C=
c.2460C= (p.Tyr820=)
c.2406C= (p.Tyr802=)
n.2475C=
n.2563C=
n.2435C=
n.2311C=
n.2571C=
3g.47122254G>TCA352526650SETD2c.2250C>A (p.Tyr750Ter)
c.2283C>A (p.Tyr761Ter)
c.262C>A
c.323C>A
c.546C>A (p.Tyr182Ter)
c.72-24173C>A (n.72-24173C>A)
c.2382C>A (p.Tyr794Ter)
c.1997C>A
c.1534C>A
c.1282C>A
c.2460C>A (p.Tyr820Ter)
c.2406C>A (p.Tyr802Ter)
n.2475C>A
n.2563C>A
n.2435C>A
n.2311C>A
n.2571C>A
3g.47122255T>ACA352526652SETD2c.2249A>T (p.Tyr750Phe)
c.2282A>T (p.Tyr761Phe)
c.261A>T
c.322A>T
c.545A>T (p.Tyr182Phe)
c.72-24174A>T (n.72-24174A>T)
c.2381A>T (p.Tyr794Phe)
c.1996A>T
c.1533A>T
c.1281A>T
c.2459A>T (p.Tyr820Phe)
c.2405A>T (p.Tyr802Phe)
n.2474A>T
n.2562A>T
n.2434A>T
n.2310A>T
n.2570A>T
 dbSNP
3g.47122255T>CCA352526653SETD2c.2249A>G (p.Tyr750Cys)
c.2282A>G (p.Tyr761Cys)
c.261A>G
c.322A>G
c.545A>G (p.Tyr182Cys)
c.72-24174A>G (n.72-24174A>G)
c.2381A>G (p.Tyr794Cys)
c.1996A>G
c.1533A>G
c.1281A>G
c.2459A>G (p.Tyr820Cys)
c.2405A>G (p.Tyr802Cys)
n.2474A>G
n.2562A>G
n.2434A>G
n.2310A>G
n.2570A>G
 dbSNP gnomAD v4
3g.47122255T>GCA352526655SETD2c.2249A>C (p.Tyr750Ser)
c.2282A>C (p.Tyr761Ser)
c.261A>C
c.322A>C
c.545A>C (p.Tyr182Ser)
c.72-24174A>C (n.72-24174A>C)
c.2381A>C (p.Tyr794Ser)
c.1996A>C
c.1533A>C
c.1281A>C
c.2459A>C (p.Tyr820Ser)
c.2405A>C (p.Tyr802Ser)
n.2474A>C
n.2562A>C
n.2434A>C
n.2310A>C
n.2570A>C
 dbSNP
3g.47122256A>CCA352526658SETD2c.2248T>G (p.Tyr750Asp)
c.2281T>G (p.Tyr761Asp)
c.260T>G
c.321T>G
c.544T>G (p.Tyr182Asp)
c.72-24175T>G (n.72-24175T>G)
c.2380T>G (p.Tyr794Asp)
c.1995T>G
c.1532T>G
c.1280T>G
c.2458T>G (p.Tyr820Asp)
c.2404T>G (p.Tyr802Asp)
n.2473T>G
n.2561T>G
n.2433T>G
n.2309T>G
n.2569T>G
3g.47122256A>GCA352526659SETD2c.2248T>C (p.Tyr750His)
c.2281T>C (p.Tyr761His)
c.260T>C
c.321T>C
c.544T>C (p.Tyr182His)
c.72-24175T>C (n.72-24175T>C)
c.2380T>C (p.Tyr794His)
c.1995T>C
c.1532T>C
c.1280T>C
c.2458T>C (p.Tyr820His)
c.2404T>C (p.Tyr802His)
n.2473T>C
n.2561T>C
n.2433T>C
n.2309T>C
n.2569T>C
3g.47122256A>TCA352526656SETD2c.2248T>A (p.Tyr750Asn)
c.2281T>A (p.Tyr761Asn)
c.260T>A
c.321T>A
c.544T>A (p.Tyr182Asn)
c.72-24175T>A (n.72-24175T>A)
c.2380T>A (p.Tyr794Asn)
c.1995T>A
c.1532T>A
c.1280T>A
c.2458T>A (p.Tyr820Asn)
c.2404T>A (p.Tyr802Asn)
n.2473T>A
n.2561T>A
n.2433T>A
n.2309T>A
n.2569T>A
 dbSNP gnomAD v4
3g.47122257T>ACA433602069SETD2c.2247A>T (p.Ile749=)
c.2280A>T (p.Ile760=)
c.259A>T
c.320A>T
c.543A>T (p.Ile181=)
c.72-24176A>T (n.72-24176A>T)
c.2379A>T (p.Ile793=)
c.1994A>T
c.1531A>T
c.1279A>T
c.2457A>T (p.Ile819=)
c.2403A>T (p.Ile801=)
n.2472A>T
n.2560A>T
n.2432A>T
n.2308A>T
n.2568A>T
 dbSNP
3g.47122257T>CCA352526661SETD2c.2247A>G (p.Ile749Met)
c.2280A>G (p.Ile760Met)
c.259A>G
c.320A>G
c.543A>G (p.Ile181Met)
c.72-24176A>G (n.72-24176A>G)
c.2379A>G (p.Ile793Met)
c.1994A>G
c.1531A>G
c.1279A>G
c.2457A>G (p.Ile819Met)
c.2403A>G (p.Ile801Met)
n.2472A>G
n.2560A>G
n.2432A>G
n.2308A>G
n.2568A>G
 dbSNP
3g.47122257T>GCA433602071SETD2c.2247A>C (p.Ile749=)
c.2280A>C (p.Ile760=)
c.259A>C
c.320A>C
c.543A>C (p.Ile181=)
c.72-24176A>C (n.72-24176A>C)
c.2379A>C (p.Ile793=)
c.1994A>C
c.1531A>C
c.1279A>C
c.2457A>C (p.Ile819=)
c.2403A>C (p.Ile801=)
n.2472A>C
n.2560A>C
n.2432A>C
n.2308A>C
n.2568A>C
 dbSNP
3g.47122258A>CCA352526663SETD2c.2246T>G (p.Ile749Arg)
c.2279T>G (p.Ile760Arg)
c.258T>G
c.319T>G
c.542T>G (p.Ile181Arg)
c.72-24177T>G (n.72-24177T>G)
c.2378T>G (p.Ile793Arg)
c.1993T>G
c.1530T>G
c.1278T>G
c.2456T>G (p.Ile819Arg)
c.2402T>G (p.Ile801Arg)
n.2471T>G
n.2559T>G
n.2431T>G
n.2307T>G
n.2567T>G
3g.47122258A>GCA352526665SETD2c.2246T>C (p.Ile749Thr)
c.2279T>C (p.Ile760Thr)
c.258T>C
c.319T>C
c.542T>C (p.Ile181Thr)
c.72-24177T>C (n.72-24177T>C)
c.2378T>C (p.Ile793Thr)
c.1993T>C
c.1530T>C
c.1278T>C
c.2456T>C (p.Ile819Thr)
c.2402T>C (p.Ile801Thr)
n.2471T>C
n.2559T>C
n.2431T>C
n.2307T>C
n.2567T>C
 gnomAD v4
3g.47122258A>TCA352526666SETD2c.2246T>A (p.Ile749Lys)
c.2279T>A (p.Ile760Lys)
c.258T>A
c.319T>A
c.542T>A (p.Ile181Lys)
c.72-24177T>A (n.72-24177T>A)
c.2378T>A (p.Ile793Lys)
c.1993T>A
c.1530T>A
c.1278T>A
c.2456T>A (p.Ile819Lys)
c.2402T>A (p.Ile801Lys)
n.2471T>A
n.2559T>A
n.2431T>A
n.2307T>A
n.2567T>A
 dbSNP gnomAD v4
3g.47122259T>ACA352526670SETD2c.2245A>T (p.Ile749Leu)
c.2278A>T (p.Ile760Leu)
c.257A>T
c.318A>T
c.541A>T (p.Ile181Leu)
c.72-24178A>T (n.72-24178A>T)
c.2377A>T (p.Ile793Leu)
c.1992A>T
c.1529A>T
c.1277A>T
c.2455A>T (p.Ile819Leu)
c.2401A>T (p.Ile801Leu)
n.2470A>T
n.2558A>T
n.2430A>T
n.2306A>T
n.2566A>T
 dbSNP
3g.47122259T>CCA352526669SETD2c.2245A>G (p.Ile749Val)
c.2278A>G (p.Ile760Val)
c.257A>G
c.318A>G
c.541A>G (p.Ile181Val)
c.72-24178A>G (n.72-24178A>G)
c.2377A>G (p.Ile793Val)
c.1992A>G
c.1529A>G
c.1277A>G
c.2455A>G (p.Ile819Val)
c.2401A>G (p.Ile801Val)
n.2470A>G
n.2558A>G
n.2430A>G
n.2306A>G
n.2566A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47122259T>GCA352526668SETD2c.2245A>C (p.Ile749Leu)
c.2278A>C (p.Ile760Leu)
c.257A>C
c.318A>C
c.541A>C (p.Ile181Leu)
c.72-24178A>C (n.72-24178A>C)
c.2377A>C (p.Ile793Leu)
c.1992A>C
c.1529A>C
c.1277A>C
c.2455A>C (p.Ile819Leu)
c.2401A>C (p.Ile801Leu)
n.2470A>C
n.2558A>C
n.2430A>C
n.2306A>C
n.2566A>C
 dbSNP
3g.47122259T=CA1362418040SETD2c.2245A= (p.Ile749=)
c.2278A= (p.Ile760=)
c.257A=
c.318A=
c.541A= (p.Ile181=)
c.72-24178A= (n.72-24178A=)
c.2377A= (p.Ile793=)
c.1992A=
c.1529A=
c.1277A=
c.2455A= (p.Ile819=)
c.2401A= (p.Ile801=)
n.2470A=
n.2558A=
n.2430A=
n.2306A=
n.2566A=
3g.47122260G>ACA2363542SETD2c.2244C>T (p.Asp748=)
c.2277C>T (p.Asp759=)
c.256C>T
c.317C>T
c.540C>T (p.Asp180=)
c.72-24179C>T (n.72-24179C>T)
c.2376C>T (p.Asp792=)
c.1991C>T
c.1528C>T
c.1276C>T
c.2454C>T (p.Asp818=)
c.2400C>T (p.Asp800=)
n.2469C>T
n.2557C>T
n.2429C>T
n.2305C>T
n.2565C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122260G>CCA352526671SETD2c.2244C>G (p.Asp748Glu)
c.2277C>G (p.Asp759Glu)
c.256C>G
c.317C>G
c.540C>G (p.Asp180Glu)
c.72-24179C>G (n.72-24179C>G)
c.2376C>G (p.Asp792Glu)
c.1991C>G
c.1528C>G
c.1276C>G
c.2454C>G (p.Asp818Glu)
c.2400C>G (p.Asp800Glu)
n.2469C>G
n.2557C>G
n.2429C>G
n.2305C>G
n.2565C>G
 dbSNP
3g.47122260G=CA1362418041SETD2c.2244C= (p.Asp748=)
c.2277C= (p.Asp759=)
c.256C=
c.317C=
c.540C= (p.Asp180=)
c.72-24179C= (n.72-24179C=)
c.2376C= (p.Asp792=)
c.1991C=
c.1528C=
c.1276C=
c.2454C= (p.Asp818=)
c.2400C= (p.Asp800=)
n.2469C=
n.2557C=
n.2429C=
n.2305C=
n.2565C=
3g.47122260G>TCA352526673SETD2c.2244C>A (p.Asp748Glu)
c.2277C>A (p.Asp759Glu)
c.256C>A
c.317C>A
c.540C>A (p.Asp180Glu)
c.72-24179C>A (n.72-24179C>A)
c.2376C>A (p.Asp792Glu)
c.1991C>A
c.1528C>A
c.1276C>A
c.2454C>A (p.Asp818Glu)
c.2400C>A (p.Asp800Glu)
n.2469C>A
n.2557C>A
n.2429C>A
n.2305C>A
n.2565C>A
3g.47122261T>ACA352526675SETD2c.2243A>T (p.Asp748Val)
c.2276A>T (p.Asp759Val)
c.255A>T
c.316A>T
c.539A>T (p.Asp180Val)
c.72-24180A>T (n.72-24180A>T)
c.2375A>T (p.Asp792Val)
c.1990A>T
c.1527A>T
c.1275A>T
c.2453A>T (p.Asp818Val)
c.2399A>T (p.Asp800Val)
n.2468A>T
n.2556A>T
n.2428A>T
n.2304A>T
n.2564A>T
 dbSNP
3g.47122261T>CCA352526676SETD2c.2243A>G (p.Asp748Gly)
c.2276A>G (p.Asp759Gly)
c.255A>G
c.316A>G
c.539A>G (p.Asp180Gly)
c.72-24180A>G (n.72-24180A>G)
c.2375A>G (p.Asp792Gly)
c.1990A>G
c.1527A>G
c.1275A>G
c.2453A>G (p.Asp818Gly)
c.2399A>G (p.Asp800Gly)
n.2468A>G
n.2556A>G
n.2428A>G
n.2304A>G
n.2564A>G
 dbSNP
3g.47122261T>GCA352526677SETD2c.2243A>C (p.Asp748Ala)
c.2276A>C (p.Asp759Ala)
c.255A>C
c.316A>C
c.539A>C (p.Asp180Ala)
c.72-24180A>C (n.72-24180A>C)
c.2375A>C (p.Asp792Ala)
c.1990A>C
c.1527A>C
c.1275A>C
c.2453A>C (p.Asp818Ala)
c.2399A>C (p.Asp800Ala)
n.2468A>C
n.2556A>C
n.2428A>C
n.2304A>C
n.2564A>C
 dbSNP
3g.47122262C>ACA352526679SETD2c.2242G>T (p.Asp748Tyr)
c.2275G>T (p.Asp759Tyr)
c.254G>T
c.315G>T
c.538G>T (p.Asp180Tyr)
c.72-24181G>T (n.72-24181G>T)
c.2374G>T (p.Asp792Tyr)
c.1989G>T
c.1526G>T
c.1274G>T
c.2452G>T (p.Asp818Tyr)
c.2398G>T (p.Asp800Tyr)
n.2467G>T
n.2555G>T
n.2427G>T
n.2303G>T
n.2563G>T
 dbSNP
3g.47122262C>GCA352526682SETD2c.2242G>C (p.Asp748His)
c.2275G>C (p.Asp759His)
c.254G>C
c.315G>C
c.538G>C (p.Asp180His)
c.72-24181G>C (n.72-24181G>C)
c.2374G>C (p.Asp792His)
c.1989G>C
c.1526G>C
c.1274G>C
c.2452G>C (p.Asp818His)
c.2398G>C (p.Asp800His)
n.2467G>C
n.2555G>C
n.2427G>C
n.2303G>C
n.2563G>C
 dbSNP
3g.47122262C>TCA352526680SETD2c.2242G>A (p.Asp748Asn)
c.2275G>A (p.Asp759Asn)
c.254G>A
c.315G>A
c.538G>A (p.Asp180Asn)
c.72-24181G>A (n.72-24181G>A)
c.2374G>A (p.Asp792Asn)
c.1989G>A
c.1526G>A
c.1274G>A
c.2452G>A (p.Asp818Asn)
c.2398G>A (p.Asp800Asn)
n.2467G>A
n.2555G>A
n.2427G>A
n.2303G>A
n.2563G>A
 dbSNP gnomAD v4
3g.47122263T>ACA433602078SETD2c.2241A>T (p.Ser747=)
c.2274A>T (p.Ser758=)
c.253A>T
c.314A>T
c.537A>T (p.Ser179=)
c.72-24182A>T (n.72-24182A>T)
c.2373A>T (p.Ser791=)
c.1988A>T
c.1525A>T
c.1273A>T
c.2451A>T (p.Ser817=)
c.2397A>T (p.Ser799=)
n.2466A>T
n.2554A>T
n.2426A>T
n.2302A>T
n.2562A>T
 dbSNP
3g.47122263T>CCA433602080SETD2c.2241A>G (p.Ser747=)
c.2274A>G (p.Ser758=)
c.253A>G
c.314A>G
c.537A>G (p.Ser179=)
c.72-24182A>G (n.72-24182A>G)
c.2373A>G (p.Ser791=)
c.1988A>G
c.1525A>G
c.1273A>G
c.2451A>G (p.Ser817=)
c.2397A>G (p.Ser799=)
n.2466A>G
n.2554A>G
n.2426A>G
n.2302A>G
n.2562A>G
 dbSNP
3g.47122263T>GCA433602082SETD2c.2241A>C (p.Ser747=)
c.2274A>C (p.Ser758=)
c.253A>C
c.314A>C
c.537A>C (p.Ser179=)
c.72-24182A>C (n.72-24182A>C)
c.2373A>C (p.Ser791=)
c.1988A>C
c.1525A>C
c.1273A>C
c.2451A>C (p.Ser817=)
c.2397A>C (p.Ser799=)
n.2466A>C
n.2554A>C
n.2426A>C
n.2302A>C
n.2562A>C
3g.47122263T=CA1362418043SETD2c.2241A= (p.Ser747=)
c.2274A= (p.Ser758=)
c.253A=
c.314A=
c.537A= (p.Ser179=)
c.72-24182A= (n.72-24182A=)
c.2373A= (p.Ser791=)
c.1988A=
c.1525A=
c.1273A=
c.2451A= (p.Ser817=)
c.2397A= (p.Ser799=)
n.2466A=
n.2554A=
n.2426A=
n.2302A=
n.2562A=
3g.47122264G>ACA352526684SETD2c.2240C>T (p.Ser747Leu)
c.2273C>T (p.Ser758Leu)
c.252C>T
c.313C>T
c.536C>T (p.Ser179Leu)
c.72-24183C>T (n.72-24183C>T)
c.2372C>T (p.Ser791Leu)
c.1987C>T
c.1524C>T
c.1272C>T
c.2450C>T (p.Ser817Leu)
c.2396C>T (p.Ser799Leu)
n.2465C>T
n.2553C>T
n.2425C>T
n.2301C>T
n.2561C>T
 dbSNP COSMIC COSMIC
3g.47122264G>CCA352526685SETD2c.2240C>G (p.Ser747Ter)
c.2273C>G (p.Ser758Ter)
c.252C>G
c.313C>G
c.536C>G (p.Ser179Ter)
c.72-24183C>G (n.72-24183C>G)
c.2372C>G (p.Ser791Ter)
c.1987C>G
c.1524C>G
c.1272C>G
c.2450C>G (p.Ser817Ter)
c.2396C>G (p.Ser799Ter)
n.2465C>G
n.2553C>G
n.2425C>G
n.2301C>G
n.2561C>G
 dbSNP gnomAD v4
3g.47122264G>TCA352526687SETD2c.2240C>A (p.Ser747Ter)
c.2273C>A (p.Ser758Ter)
c.252C>A
c.313C>A
c.536C>A (p.Ser179Ter)
c.72-24183C>A (n.72-24183C>A)
c.2372C>A (p.Ser791Ter)
c.1987C>A
c.1524C>A
c.1272C>A
c.2450C>A (p.Ser817Ter)
c.2396C>A (p.Ser799Ter)
n.2465C>A
n.2553C>A
n.2425C>A
n.2301C>A
n.2561C>A
 dbSNP
3g.47122265A=CA1362418044SETD2c.2239T= (p.Ser747=)
c.2272T= (p.Ser758=)
c.251T=
c.312T=
c.535T= (p.Ser179=)
c.72-24184T= (n.72-24184T=)
c.2371T= (p.Ser791=)
c.1986T=
c.1523T=
c.1271T=
c.2449T= (p.Ser817=)
c.2395T= (p.Ser799=)
n.2464T=
n.2552T=
n.2424T=
n.2300T=
n.2560T=
3g.47122265A>CCA2363543SETD2c.2239T>G (p.Ser747Ala)
c.2272T>G (p.Ser758Ala)
c.251T>G
c.312T>G
c.535T>G (p.Ser179Ala)
c.72-24184T>G (n.72-24184T>G)
c.2371T>G (p.Ser791Ala)
c.1986T>G
c.1523T>G
c.1271T>G
c.2449T>G (p.Ser817Ala)
c.2395T>G (p.Ser799Ala)
n.2464T>G
n.2552T>G
n.2424T>G
n.2300T>G
n.2560T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47122265A>GCA352526690SETD2c.2239T>C (p.Ser747Pro)
c.2272T>C (p.Ser758Pro)
c.251T>C
c.312T>C
c.535T>C (p.Ser179Pro)
c.72-24184T>C (n.72-24184T>C)
c.2371T>C (p.Ser791Pro)
c.1986T>C
c.1523T>C
c.1271T>C
c.2449T>C (p.Ser817Pro)
c.2395T>C (p.Ser799Pro)
n.2464T>C
n.2552T>C
n.2424T>C
n.2300T>C
n.2560T>C
 dbSNP
3g.47122265A>TCA352526691SETD2c.2239T>A (p.Ser747Thr)
c.2272T>A (p.Ser758Thr)
c.251T>A
c.312T>A
c.535T>A (p.Ser179Thr)
c.72-24184T>A (n.72-24184T>A)
c.2371T>A (p.Ser791Thr)
c.1986T>A
c.1523T>A
c.1271T>A
c.2449T>A (p.Ser817Thr)
c.2395T>A (p.Ser799Thr)
n.2464T>A
n.2552T>A
n.2424T>A
n.2300T>A
n.2560T>A
 dbSNP
3g.47122266A>CCA352526693SETD2c.2238T>G (p.Asp746Glu)
c.2271T>G (p.Asp757Glu)
c.250T>G
c.311T>G
c.534T>G (p.Asp178Glu)
c.72-24185T>G (n.72-24185T>G)
c.2370T>G (p.Asp790Glu)
c.1985T>G
c.1522T>G
c.1270T>G
c.2448T>G (p.Asp816Glu)
c.2394T>G (p.Asp798Glu)
n.2463T>G
n.2551T>G
n.2423T>G
n.2299T>G
n.2559T>G
 dbSNP
3g.47122266A>GCA433602085SETD2c.2238T>C (p.Asp746=)
c.2271T>C (p.Asp757=)
c.250T>C
c.311T>C
c.534T>C (p.Asp178=)
c.72-24185T>C (n.72-24185T>C)
c.2370T>C (p.Asp790=)
c.1985T>C
c.1522T>C
c.1270T>C
c.2448T>C (p.Asp816=)
c.2394T>C (p.Asp798=)
n.2463T>C
n.2551T>C
n.2423T>C
n.2299T>C
n.2559T>C
3g.47122266A>TCA352526694SETD2c.2238T>A (p.Asp746Glu)
c.2271T>A (p.Asp757Glu)
c.250T>A
c.311T>A
c.534T>A (p.Asp178Glu)
c.72-24185T>A (n.72-24185T>A)
c.2370T>A (p.Asp790Glu)
c.1985T>A
c.1522T>A
c.1270T>A
c.2448T>A (p.Asp816Glu)
c.2394T>A (p.Asp798Glu)
n.2463T>A
n.2551T>A
n.2423T>A
n.2299T>A
n.2559T>A
 dbSNP
3g.47122267T>ACA352526696SETD2c.2237A>T (p.Asp746Val)
c.2270A>T (p.Asp757Val)
c.249A>T
c.310A>T
c.533A>T (p.Asp178Val)
c.72-24186A>T (n.72-24186A>T)
c.2369A>T (p.Asp790Val)
c.1984A>T
c.1521A>T
c.1269A>T
c.2447A>T (p.Asp816Val)
c.2393A>T (p.Asp798Val)
n.2462A>T
n.2550A>T
n.2422A>T
n.2298A>T
n.2558A>T
 dbSNP
3g.47122267T>CCA352526697SETD2c.2237A>G (p.Asp746Gly)
c.2270A>G (p.Asp757Gly)
c.249A>G
c.310A>G
c.533A>G (p.Asp178Gly)
c.72-24186A>G (n.72-24186A>G)
c.2369A>G (p.Asp790Gly)
c.1984A>G
c.1521A>G
c.1269A>G
c.2447A>G (p.Asp816Gly)
c.2393A>G (p.Asp798Gly)
n.2462A>G
n.2550A>G
n.2422A>G
n.2298A>G
n.2558A>G
 dbSNP
3g.47122267T>GCA352526698SETD2c.2237A>C (p.Asp746Ala)
c.2270A>C (p.Asp757Ala)
c.249A>C
c.310A>C
c.533A>C (p.Asp178Ala)
c.72-24186A>C (n.72-24186A>C)
c.2369A>C (p.Asp790Ala)
c.1984A>C
c.1521A>C
c.1269A>C
c.2447A>C (p.Asp816Ala)
c.2393A>C (p.Asp798Ala)
n.2462A>C
n.2550A>C
n.2422A>C
n.2298A>C
n.2558A>C
 dbSNP
3g.47122268C>ACA352526702SETD2c.2236G>T (p.Asp746Tyr)
c.2269G>T (p.Asp757Tyr)
c.248G>T
c.309G>T
c.532G>T (p.Asp178Tyr)
c.72-24187G>T (n.72-24187G>T)
c.2368G>T (p.Asp790Tyr)
c.1983G>T
c.1520G>T
c.1268G>T
c.2446G>T (p.Asp816Tyr)
c.2392G>T (p.Asp798Tyr)
n.2461G>T
n.2549G>T
n.2421G>T
n.2297G>T
n.2557G>T
3g.47122268C>GCA352526700SETD2c.2236G>C (p.Asp746His)
c.2269G>C (p.Asp757His)
c.248G>C
c.309G>C
c.532G>C (p.Asp178His)
c.72-24187G>C (n.72-24187G>C)
c.2368G>C (p.Asp790His)
c.1983G>C
c.1520G>C
c.1268G>C
c.2446G>C (p.Asp816His)
c.2392G>C (p.Asp798His)
n.2461G>C
n.2549G>C
n.2421G>C
n.2297G>C
n.2557G>C
3g.47122268C>TCA352526699SETD2c.2236G>A (p.Asp746Asn)
c.2269G>A (p.Asp757Asn)
c.248G>A
c.309G>A
c.532G>A (p.Asp178Asn)
c.72-24187G>A (n.72-24187G>A)
c.2368G>A (p.Asp790Asn)
c.1983G>A
c.1520G>A
c.1268G>A
c.2446G>A (p.Asp816Asn)
c.2392G>A (p.Asp798Asn)
n.2461G>A
n.2549G>A
n.2421G>A
n.2297G>A
n.2557G>A
 dbSNP
3g.47122269T>ACA352526703SETD2c.2235A>T (p.Lys745Asn)
c.2268A>T (p.Lys756Asn)
c.247A>T
c.308A>T
c.531A>T (p.Lys177Asn)
c.72-24188A>T (n.72-24188A>T)
c.2367A>T (p.Lys789Asn)
c.1982A>T
c.1519A>T
c.1267A>T
c.2445A>T (p.Lys815Asn)
c.2391A>T (p.Lys797Asn)
n.2460A>T
n.2548A>T
n.2420A>T
n.2296A>T
n.2556A>T
 dbSNP
3g.47122269T>CCA433602090SETD2c.2235A>G (p.Lys745=)
c.2268A>G (p.Lys756=)
c.247A>G
c.308A>G
c.531A>G (p.Lys177=)
c.72-24188A>G (n.72-24188A>G)
c.2367A>G (p.Lys789=)
c.1982A>G
c.1519A>G
c.1267A>G
c.2445A>G (p.Lys815=)
c.2391A>G (p.Lys797=)
n.2460A>G
n.2548A>G
n.2420A>G
n.2296A>G
n.2556A>G
 dbSNP
3g.47122269T>GCA352526705SETD2c.2235A>C (p.Lys745Asn)
c.2268A>C (p.Lys756Asn)
c.247A>C
c.308A>C
c.531A>C (p.Lys177Asn)
c.72-24188A>C (n.72-24188A>C)
c.2367A>C (p.Lys789Asn)
c.1982A>C
c.1519A>C
c.1267A>C
c.2445A>C (p.Lys815Asn)
c.2391A>C (p.Lys797Asn)
n.2460A>C
n.2548A>C
n.2420A>C
n.2296A>C
n.2556A>C
3g.47122270T>ACA352526707SETD2c.2234A>T (p.Lys745Ile)
c.2267A>T (p.Lys756Ile)
c.246A>T
c.307A>T
c.530A>T (p.Lys177Ile)
c.72-24189A>T (n.72-24189A>T)
c.2366A>T (p.Lys789Ile)
c.1981A>T
c.1518A>T
c.1266A>T
c.2444A>T (p.Lys815Ile)
c.2390A>T (p.Lys797Ile)
n.2459A>T
n.2547A>T
n.2419A>T
n.2295A>T
n.2555A>T
 dbSNP
3g.47122270T>CCA352526708SETD2c.2234A>G (p.Lys745Arg)
c.2267A>G (p.Lys756Arg)
c.246A>G
c.307A>G
c.530A>G (p.Lys177Arg)
c.72-24189A>G (n.72-24189A>G)
c.2366A>G (p.Lys789Arg)
c.1981A>G
c.1518A>G
c.1266A>G
c.2444A>G (p.Lys815Arg)
c.2390A>G (p.Lys797Arg)
n.2459A>G
n.2547A>G
n.2419A>G
n.2295A>G
n.2555A>G
 dbSNP
3g.47122270T>GCA352526709SETD2c.2234A>C (p.Lys745Thr)
c.2267A>C (p.Lys756Thr)
c.246A>C
c.307A>C
c.530A>C (p.Lys177Thr)
c.72-24189A>C (n.72-24189A>C)
c.2366A>C (p.Lys789Thr)
c.1981A>C
c.1518A>C
c.1266A>C
c.2444A>C (p.Lys815Thr)
c.2390A>C (p.Lys797Thr)
n.2459A>C
n.2547A>C
n.2419A>C
n.2295A>C
n.2555A>C
 dbSNP
3g.47122271T>ACA352526712SETD2c.2233A>T (p.Lys745Ter)
c.2266A>T (p.Lys756Ter)
c.245A>T
c.306A>T
c.529A>T (p.Lys177Ter)
c.72-24190A>T (n.72-24190A>T)
c.2365A>T (p.Lys789Ter)
c.1980A>T
c.1517A>T
c.1265A>T
c.2443A>T (p.Lys815Ter)
c.2389A>T (p.Lys797Ter)
n.2458A>T
n.2546A>T
n.2418A>T
n.2294A>T
n.2554A>T
3g.47122271T>CCA73810336SETD2c.2233A>G (p.Lys745Glu)
c.2266A>G (p.Lys756Glu)
c.245A>G
c.306A>G
c.529A>G (p.Lys177Glu)
c.72-24190A>G (n.72-24190A>G)
c.2365A>G (p.Lys789Glu)
c.1980A>G
c.1517A>G
c.1265A>G
c.2443A>G (p.Lys815Glu)
c.2389A>G (p.Lys797Glu)
n.2458A>G
n.2546A>G
n.2418A>G
n.2294A>G
n.2554A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47122271T>GCA352526714SETD2c.2233A>C (p.Lys745Gln)
c.2266A>C (p.Lys756Gln)
c.245A>C
c.306A>C
c.529A>C (p.Lys177Gln)
c.72-24190A>C (n.72-24190A>C)
c.2365A>C (p.Lys789Gln)
c.1980A>C
c.1517A>C
c.1265A>C
c.2443A>C (p.Lys815Gln)
c.2389A>C (p.Lys797Gln)
n.2458A>C
n.2546A>C
n.2418A>C
n.2294A>C
n.2554A>C
3g.47122271T=CA1362418047SETD2c.2233A= (p.Lys745=)
c.2266A= (p.Lys756=)
c.245A=
c.306A=
c.529A= (p.Lys177=)
c.72-24190A= (n.72-24190A=)
c.2365A= (p.Lys789=)
c.1980A=
c.1517A=
c.1265A=
c.2443A= (p.Lys815=)
c.2389A= (p.Lys797=)
n.2458A=
n.2546A=
n.2418A=
n.2294A=
n.2554A=
3g.47122272G>ACA433602097SETD2c.2232C>T (p.Thr744=)
c.2265C>T (p.Thr755=)
c.244C>T
c.305C>T
c.528C>T (p.Thr176=)
c.72-24191C>T (n.72-24191C>T)
c.2364C>T (p.Thr788=)
c.1979C>T
c.1516C>T
c.1264C>T
c.2442C>T (p.Thr814=)
c.2388C>T (p.Thr796=)
n.2457C>T
n.2545C>T
n.2417C>T
n.2293C>T
n.2553C>T
 dbSNP
3g.47122272G>CCA2363544SETD2c.2232C>G (p.Thr744=)
c.2265C>G (p.Thr755=)
c.244C>G
c.305C>G
c.528C>G (p.Thr176=)
c.72-24191C>G (n.72-24191C>G)
c.2364C>G (p.Thr788=)
c.1979C>G
c.1516C>G
c.1264C>G
c.2442C>G (p.Thr814=)
c.2388C>G (p.Thr796=)
n.2457C>G
n.2545C>G
n.2417C>G
n.2293C>G
n.2553C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47122272G=CA1362418049SETD2c.2232C= (p.Thr744=)
c.2265C= (p.Thr755=)
c.244C=
c.305C=
c.528C= (p.Thr176=)
c.72-24191C= (n.72-24191C=)
c.2364C= (p.Thr788=)
c.1979C=
c.1516C=
c.1264C=
c.2442C= (p.Thr814=)
c.2388C= (p.Thr796=)
n.2457C=
n.2545C=
n.2417C=
n.2293C=
n.2553C=
3g.47122272G>TCA433602099SETD2c.2232C>A (p.Thr744=)
c.2265C>A (p.Thr755=)
c.244C>A
c.305C>A
c.528C>A (p.Thr176=)
c.72-24191C>A (n.72-24191C>A)
c.2364C>A (p.Thr788=)
c.1979C>A
c.1516C>A
c.1264C>A
c.2442C>A (p.Thr814=)
c.2388C>A (p.Thr796=)
n.2457C>A
n.2545C>A
n.2417C>A
n.2293C>A
n.2553C>A
 dbSNP
3g.47122273delCA2702635596SETD2c.2232del (p.Asp746IlefsTer8)
c.2265del (p.Asp757IlefsTer8)
c.244del
c.305del
c.528del (p.Asp178IlefsTer8)
c.72-24191del (n.72-24191del)
c.2364del (p.Asp790IlefsTer8)
c.1979del
c.1516del
c.1264del
c.2442del (p.Asp816IlefsTer8)
c.2388del (p.Asp798IlefsTer8)
n.2457del
n.2545del
n.2417del
n.2293del
n.2553del
 dbSNP
3g.47122273G>ACA352526716SETD2c.2231C>T (p.Thr744Ile)
c.2264C>T (p.Thr755Ile)
c.243C>T
c.304C>T
c.527C>T (p.Thr176Ile)
c.72-24192C>T (n.72-24192C>T)
c.2363C>T (p.Thr788Ile)
c.1978C>T
c.1515C>T
c.1263C>T
c.2441C>T (p.Thr814Ile)
c.2387C>T (p.Thr796Ile)
n.2456C>T
n.2544C>T
n.2416C>T
n.2292C>T
n.2552C>T
3g.47122273G>CCA352526718SETD2c.2231C>G (p.Thr744Ser)
c.2264C>G (p.Thr755Ser)
c.243C>G
c.304C>G
c.527C>G (p.Thr176Ser)
c.72-24192C>G (n.72-24192C>G)
c.2363C>G (p.Thr788Ser)
c.1978C>G
c.1515C>G
c.1263C>G
c.2441C>G (p.Thr814Ser)
c.2387C>G (p.Thr796Ser)
n.2456C>G
n.2544C>G
n.2416C>G
n.2292C>G
n.2552C>G
3g.47122273G>TCA352526720SETD2c.2231C>A (p.Thr744Asn)
c.2264C>A (p.Thr755Asn)
c.243C>A
c.304C>A
c.527C>A (p.Thr176Asn)
c.72-24192C>A (n.72-24192C>A)
c.2363C>A (p.Thr788Asn)
c.1978C>A
c.1515C>A
c.1263C>A
c.2441C>A (p.Thr814Asn)
c.2387C>A (p.Thr796Asn)
n.2456C>A
n.2544C>A
n.2416C>A
n.2292C>A
n.2552C>A
 COSMIC COSMIC
3g.47122274T>ACA352526721SETD2c.2230A>T (p.Thr744Ser)
c.2263A>T (p.Thr755Ser)
c.242A>T
c.303A>T
c.526A>T (p.Thr176Ser)
c.72-24193A>T (n.72-24193A>T)
c.2362A>T (p.Thr788Ser)
c.1977A>T
c.1514A>T
c.1262A>T
c.2440A>T (p.Thr814Ser)
c.2386A>T (p.Thr796Ser)
n.2455A>T
n.2543A>T
n.2415A>T
n.2291A>T
n.2551A>T
 ClinVar dbSNP
3g.47122274T>CCA352526722SETD2c.2230A>G (p.Thr744Ala)
c.2263A>G (p.Thr755Ala)
c.242A>G
c.303A>G
c.526A>G (p.Thr176Ala)
c.72-24193A>G (n.72-24193A>G)
c.2362A>G (p.Thr788Ala)
c.1977A>G
c.1514A>G
c.1262A>G
c.2440A>G (p.Thr814Ala)
c.2386A>G (p.Thr796Ala)
n.2455A>G
n.2543A>G
n.2415A>G
n.2291A>G
n.2551A>G
 dbSNP
3g.47122274T>GCA352526724SETD2c.2230A>C (p.Thr744Pro)
c.2263A>C (p.Thr755Pro)
c.242A>C
c.303A>C
c.526A>C (p.Thr176Pro)
c.72-24193A>C (n.72-24193A>C)
c.2362A>C (p.Thr788Pro)
c.1977A>C
c.1514A>C
c.1262A>C
c.2440A>C (p.Thr814Pro)
c.2386A>C (p.Thr796Pro)
n.2455A>C
n.2543A>C
n.2415A>C
n.2291A>C
n.2551A>C
3g.47122274T=CA1362418051SETD2c.2230A= (p.Thr744=)
c.2263A= (p.Thr755=)
c.242A=
c.303A=
c.526A= (p.Thr176=)
c.72-24193A= (n.72-24193A=)
c.2362A= (p.Thr788=)
c.1977A=
c.1514A=
c.1262A=
c.2440A= (p.Thr814=)
c.2386A= (p.Thr796=)
n.2455A=
n.2543A=
n.2415A=
n.2291A=
n.2551A=
3g.47122277dupCA2839649588SETD2c.2230dup (p.Thr744AsnfsTer13)
c.2263dup (p.Thr755AsnfsTer13)
c.242dup
c.303dup
c.526dup (p.Thr176AsnfsTer13)
c.72-24193dup (n.72-24193dup)
c.2362dup (p.Thr788AsnfsTer13)
c.1977dup
c.1514dup
c.1262dup
c.2440dup (p.Thr814AsnfsTer13)
c.2386dup (p.Thr796AsnfsTer13)
n.2455dup
n.2543dup
n.2415dup
n.2291dup
n.2551dup
3g.47122275T>ACA352526726SETD2c.2229A>T (p.Lys743Asn)
c.2262A>T (p.Lys754Asn)
c.241A>T
c.302A>T
c.525A>T (p.Lys175Asn)
c.72-24194A>T (n.72-24194A>T)
c.2361A>T (p.Lys787Asn)
c.1976A>T
c.1513A>T
c.1261A>T
c.2439A>T (p.Lys813Asn)
c.2385A>T (p.Lys795Asn)
n.2454A>T
n.2542A>T
n.2414A>T
n.2290A>T
n.2550A>T
 dbSNP gnomAD v4
3g.47122275T>CCA433602102SETD2c.2229A>G (p.Lys743=)
c.2262A>G (p.Lys754=)
c.241A>G
c.302A>G
c.525A>G (p.Lys175=)
c.72-24194A>G (n.72-24194A>G)
c.2361A>G (p.Lys787=)
c.1976A>G
c.1513A>G
c.1261A>G
c.2439A>G (p.Lys813=)
c.2385A>G (p.Lys795=)
n.2454A>G
n.2542A>G
n.2414A>G
n.2290A>G
n.2550A>G
 dbSNP gnomAD v4
3g.47122275T>GCA352526727SETD2c.2229A>C (p.Lys743Asn)
c.2262A>C (p.Lys754Asn)
c.241A>C
c.302A>C
c.525A>C (p.Lys175Asn)
c.72-24194A>C (n.72-24194A>C)
c.2361A>C (p.Lys787Asn)
c.1976A>C
c.1513A>C
c.1261A>C
c.2439A>C (p.Lys813Asn)
c.2385A>C (p.Lys795Asn)
n.2454A>C
n.2542A>C
n.2414A>C
n.2290A>C
n.2550A>C
3g.47122276T>ACA352526729SETD2c.2228A>T (p.Lys743Ile)
c.2261A>T (p.Lys754Ile)
c.240A>T
c.301A>T
c.524A>T (p.Lys175Ile)
c.72-24195A>T (n.72-24195A>T)
c.2360A>T (p.Lys787Ile)
c.1975A>T
c.1512A>T
c.1260A>T
c.2438A>T (p.Lys813Ile)
c.2384A>T (p.Lys795Ile)
n.2453A>T
n.2541A>T
n.2413A>T
n.2289A>T
n.2549A>T
 dbSNP
3g.47122276T>CCA352526731SETD2c.2228A>G (p.Lys743Arg)
c.2261A>G (p.Lys754Arg)
c.240A>G
c.301A>G
c.524A>G (p.Lys175Arg)
c.72-24195A>G (n.72-24195A>G)
c.2360A>G (p.Lys787Arg)
c.1975A>G
c.1512A>G
c.1260A>G
c.2438A>G (p.Lys813Arg)
c.2384A>G (p.Lys795Arg)
n.2453A>G
n.2541A>G
n.2413A>G
n.2289A>G
n.2549A>G
 ClinVar dbSNP gnomAD v4
3g.47122276T>GCA2363545SETD2c.2228A>C (p.Lys743Thr)
c.2261A>C (p.Lys754Thr)
c.240A>C
c.301A>C
c.524A>C (p.Lys175Thr)
c.72-24195A>C (n.72-24195A>C)
c.2360A>C (p.Lys787Thr)
c.1975A>C
c.1512A>C
c.1260A>C
c.2438A>C (p.Lys813Thr)
c.2384A>C (p.Lys795Thr)
n.2453A>C
n.2541A>C
n.2413A>C
n.2289A>C
n.2549A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.47122276T=CA1362418053SETD2c.2228A= (p.Lys743=)
c.2261A= (p.Lys754=)
c.240A=
c.301A=
c.524A= (p.Lys175=)
c.72-24195A= (n.72-24195A=)
c.2360A= (p.Lys787=)
c.1975A=
c.1512A=
c.1260A=
c.2438A= (p.Lys813=)
c.2384A= (p.Lys795=)
n.2453A=
n.2541A=
n.2413A=
n.2289A=
n.2549A=
3g.47122277T>ACA352526733SETD2c.2227A>T (p.Lys743Ter)
c.2260A>T (p.Lys754Ter)
c.239A>T
c.300A>T
c.523A>T (p.Lys175Ter)
c.72-24196A>T (n.72-24196A>T)
c.2359A>T (p.Lys787Ter)
c.1974A>T
c.1511A>T
c.1259A>T
c.2437A>T (p.Lys813Ter)
c.2383A>T (p.Lys795Ter)
n.2452A>T
n.2540A>T
n.2412A>T
n.2288A>T
n.2548A>T
 dbSNP
3g.47122277T>CCA352526735SETD2c.2227A>G (p.Lys743Glu)
c.2260A>G (p.Lys754Glu)
c.239A>G
c.300A>G
c.523A>G (p.Lys175Glu)
c.72-24196A>G (n.72-24196A>G)
c.2359A>G (p.Lys787Glu)
c.1974A>G
c.1511A>G
c.1259A>G
c.2437A>G (p.Lys813Glu)
c.2383A>G (p.Lys795Glu)
n.2452A>G
n.2540A>G
n.2412A>G
n.2288A>G
n.2548A>G
3g.47122277T>GCA352526736SETD2c.2227A>C (p.Lys743Gln)
c.2260A>C (p.Lys754Gln)
c.239A>C
c.300A>C
c.523A>C (p.Lys175Gln)
c.72-24196A>C (n.72-24196A>C)
c.2359A>C (p.Lys787Gln)
c.1974A>C
c.1511A>C
c.1259A>C
c.2437A>C (p.Lys813Gln)
c.2383A>C (p.Lys795Gln)
n.2452A>C
n.2540A>C
n.2412A>C
n.2288A>C
n.2548A>C
 dbSNP
3g.47122278G>ACA433602108SETD2c.2226C>T (p.Cys742=)
c.2259C>T (p.Cys753=)
c.238C>T
c.299C>T
c.522C>T (p.Cys174=)
c.72-24197C>T (n.72-24197C>T)
c.2358C>T (p.Cys786=)
c.1973C>T
c.1510C>T
c.1258C>T
c.2436C>T (p.Cys812=)
c.2382C>T (p.Cys794=)
n.2451C>T
n.2539C>T
n.2411C>T
n.2287C>T
n.2547C>T
 dbSNP
3g.47122278G>CCA352526738SETD2c.2226C>G (p.Cys742Trp)
c.2259C>G (p.Cys753Trp)
c.238C>G
c.299C>G
c.522C>G (p.Cys174Trp)
c.72-24197C>G (n.72-24197C>G)
c.2358C>G (p.Cys786Trp)
c.1973C>G
c.1510C>G
c.1258C>G
c.2436C>G (p.Cys812Trp)
c.2382C>G (p.Cys794Trp)
n.2451C>G
n.2539C>G
n.2411C>G
n.2287C>G
n.2547C>G
 dbSNP
3g.47122278G>TCA352526740SETD2c.2226C>A (p.Cys742Ter)
c.2259C>A (p.Cys753Ter)
c.238C>A
c.299C>A
c.522C>A (p.Cys174Ter)
c.72-24197C>A (n.72-24197C>A)
c.2358C>A (p.Cys786Ter)
c.1973C>A
c.1510C>A
c.1258C>A
c.2436C>A (p.Cys812Ter)
c.2382C>A (p.Cys794Ter)
n.2451C>A
n.2539C>A
n.2411C>A
n.2287C>A
n.2547C>A
 dbSNP
3g.47122279C>ACA352526741SETD2c.2225G>T (p.Cys742Phe)
c.2258G>T (p.Cys753Phe)
c.237G>T
c.298G>T
c.521G>T (p.Cys174Phe)
c.72-24198G>T (n.72-24198G>T)
c.2357G>T (p.Cys786Phe)
c.1972G>T
c.1509G>T
c.1257G>T
c.2435G>T (p.Cys812Phe)
c.2381G>T (p.Cys794Phe)
n.2450G>T
n.2538G>T
n.2410G>T
n.2286G>T
n.2546G>T
 dbSNP
3g.47122279C>GCA352526742SETD2c.2225G>C (p.Cys742Ser)
c.2258G>C (p.Cys753Ser)
c.237G>C
c.298G>C
c.521G>C (p.Cys174Ser)
c.72-24198G>C (n.72-24198G>C)
c.2357G>C (p.Cys786Ser)
c.1972G>C
c.1509G>C
c.1257G>C
c.2435G>C (p.Cys812Ser)
c.2381G>C (p.Cys794Ser)
n.2450G>C
n.2538G>C
n.2410G>C
n.2286G>C
n.2546G>C
 dbSNP
3g.47122279C>TCA352526744SETD2c.2225G>A (p.Cys742Tyr)
c.2258G>A (p.Cys753Tyr)
c.237G>A
c.298G>A
c.521G>A (p.Cys174Tyr)
c.72-24198G>A (n.72-24198G>A)
c.2357G>A (p.Cys786Tyr)
c.1972G>A
c.1509G>A
c.1257G>A
c.2435G>A (p.Cys812Tyr)
c.2381G>A (p.Cys794Tyr)
n.2450G>A
n.2538G>A
n.2410G>A
n.2286G>A
n.2546G>A
 dbSNP
3g.47122280A=CA1362418055SETD2c.2224T= (p.Cys742=)
c.2257T= (p.Cys753=)
c.236T=
c.297T=
c.520T= (p.Cys174=)
c.72-24199T= (n.72-24199T=)
c.2356T= (p.Cys786=)
c.1971T=
c.1508T=
c.1256T=
c.2434T= (p.Cys812=)
c.2380T= (p.Cys794=)
n.2449T=
n.2537T=
n.2409T=
n.2285T=
n.2545T=
3g.47122280A>CCA352526747SETD2c.2224T>G (p.Cys742Gly)
c.2257T>G (p.Cys753Gly)
c.236T>G
c.297T>G
c.520T>G (p.Cys174Gly)
c.72-24199T>G (n.72-24199T>G)
c.2356T>G (p.Cys786Gly)
c.1971T>G
c.1508T>G
c.1256T>G
c.2434T>G (p.Cys812Gly)
c.2380T>G (p.Cys794Gly)
n.2449T>G
n.2537T>G
n.2409T>G
n.2285T>G
n.2545T>G
3g.47122280A>GCA2363546SETD2c.2224T>C (p.Cys742Arg)
c.2257T>C (p.Cys753Arg)
c.236T>C
c.297T>C
c.520T>C (p.Cys174Arg)
c.72-24199T>C (n.72-24199T>C)
c.2356T>C (p.Cys786Arg)
c.1971T>C
c.1508T>C
c.1256T>C
c.2434T>C (p.Cys812Arg)
c.2380T>C (p.Cys794Arg)
n.2449T>C
n.2537T>C
n.2409T>C
n.2285T>C
n.2545T>C
 dbSNP ExAC gnomAD v2
3g.47122280A>TCA352526745SETD2c.2224T>A (p.Cys742Ser)
c.2257T>A (p.Cys753Ser)
c.236T>A
c.297T>A
c.520T>A (p.Cys174Ser)
c.72-24199T>A (n.72-24199T>A)
c.2356T>A (p.Cys786Ser)
c.1971T>A
c.1508T>A
c.1256T>A
c.2434T>A (p.Cys812Ser)
c.2380T>A (p.Cys794Ser)
n.2449T>A
n.2537T>A
n.2409T>A
n.2285T>A
n.2545T>A
 dbSNP
3g.47122281G>ACA433602111SETD2c.2223C>T (p.Cys741=)
c.2256C>T (p.Cys752=)
c.235C>T
c.296C>T
c.519C>T (p.Cys173=)
c.72-24200C>T (n.72-24200C>T)
c.2355C>T (p.Cys785=)
c.1970C>T
c.1507C>T
c.1255C>T
c.2433C>T (p.Cys811=)
c.2379C>T (p.Cys793=)
n.2448C>T
n.2536C>T
n.2408C>T
n.2284C>T
n.2544C>T
 dbSNP gnomAD v4
3g.47122281G>CCA352526748SETD2c.2223C>G (p.Cys741Trp)
c.2256C>G (p.Cys752Trp)
c.235C>G
c.296C>G
c.519C>G (p.Cys173Trp)
c.72-24200C>G (n.72-24200C>G)
c.2355C>G (p.Cys785Trp)
c.1970C>G
c.1507C>G
c.1255C>G
c.2433C>G (p.Cys811Trp)
c.2379C>G (p.Cys793Trp)
n.2448C>G
n.2536C>G
n.2408C>G
n.2284C>G
n.2544C>G
 dbSNP
3g.47122281G=CA1362418057SETD2c.2223C= (p.Cys741=)
c.2256C= (p.Cys752=)
c.235C=
c.296C=
c.519C= (p.Cys173=)
c.72-24200C= (n.72-24200C=)
c.2355C= (p.Cys785=)
c.1970C=
c.1507C=
c.1255C=
c.2433C= (p.Cys811=)
c.2379C= (p.Cys793=)
n.2448C=
n.2536C=
n.2408C=
n.2284C=
n.2544C=
3g.47122281G>TCA352526749SETD2c.2223C>A (p.Cys741Ter)
c.2256C>A (p.Cys752Ter)
c.235C>A
c.296C>A
c.519C>A (p.Cys173Ter)
c.72-24200C>A (n.72-24200C>A)
c.2355C>A (p.Cys785Ter)
c.1970C>A
c.1507C>A
c.1255C>A
c.2433C>A (p.Cys811Ter)
c.2379C>A (p.Cys793Ter)
n.2448C>A
n.2536C>A
n.2408C>A
n.2284C>A
n.2544C>A
 dbSNP
3g.47122282C>ACA352526751SETD2c.2222G>T (p.Cys741Phe)
c.2255G>T (p.Cys752Phe)
c.234G>T
c.295G>T
c.518G>T (p.Cys173Phe)
c.72-24201G>T (n.72-24201G>T)
c.2354G>T (p.Cys785Phe)
c.1969G>T
c.1506G>T
c.1254G>T
c.2432G>T (p.Cys811Phe)
c.2378G>T (p.Cys793Phe)
n.2447G>T
n.2535G>T
n.2407G>T
n.2283G>T
n.2543G>T
 dbSNP
3g.47122282C>GCA352526753SETD2c.2222G>C (p.Cys741Ser)
c.2255G>C (p.Cys752Ser)
c.234G>C
c.295G>C
c.518G>C (p.Cys173Ser)
c.72-24201G>C (n.72-24201G>C)
c.2354G>C (p.Cys785Ser)
c.1969G>C
c.1506G>C
c.1254G>C
c.2432G>C (p.Cys811Ser)
c.2378G>C (p.Cys793Ser)
n.2447G>C
n.2535G>C
n.2407G>C
n.2283G>C
n.2543G>C
 dbSNP
3g.47122282C>TCA352526754SETD2c.2222G>A (p.Cys741Tyr)
c.2255G>A (p.Cys752Tyr)
c.234G>A
c.295G>A
c.518G>A (p.Cys173Tyr)
c.72-24201G>A (n.72-24201G>A)
c.2354G>A (p.Cys785Tyr)
c.1969G>A
c.1506G>A
c.1254G>A
c.2432G>A (p.Cys811Tyr)
c.2378G>A (p.Cys793Tyr)
n.2447G>A
n.2535G>A
n.2407G>A
n.2283G>A
n.2543G>A
 dbSNP
3g.47122283A>CCA352526759SETD2c.2221T>G (p.Cys741Gly)
c.2254T>G (p.Cys752Gly)
c.233T>G
c.294T>G
c.517T>G (p.Cys173Gly)
c.72-24202T>G (n.72-24202T>G)
c.2353T>G (p.Cys785Gly)
c.1968T>G
c.1505T>G
c.1253T>G
c.2431T>G (p.Cys811Gly)
c.2377T>G (p.Cys793Gly)
n.2446T>G
n.2534T>G
n.2406T>G
n.2282T>G
n.2542T>G
3g.47122283A>GCA352526758SETD2c.2221T>C (p.Cys741Arg)
c.2254T>C (p.Cys752Arg)
c.233T>C
c.294T>C
c.517T>C (p.Cys173Arg)
c.72-24202T>C (n.72-24202T>C)
c.2353T>C (p.Cys785Arg)
c.1968T>C
c.1505T>C
c.1253T>C
c.2431T>C (p.Cys811Arg)
c.2377T>C (p.Cys793Arg)
n.2446T>C
n.2534T>C
n.2406T>C
n.2282T>C
n.2542T>C
3g.47122283A>TCA352526756SETD2c.2221T>A (p.Cys741Ser)
c.2254T>A (p.Cys752Ser)
c.233T>A
c.294T>A
c.517T>A (p.Cys173Ser)
c.72-24202T>A (n.72-24202T>A)
c.2353T>A (p.Cys785Ser)
c.1968T>A
c.1505T>A
c.1253T>A
c.2431T>A (p.Cys811Ser)
c.2377T>A (p.Cys793Ser)
n.2446T>A
n.2534T>A
n.2406T>A
n.2282T>A
n.2542T>A
 dbSNP gnomAD v4
3g.47122284A>CCA433602117SETD2c.2220T>G (p.Ser740=)
c.2253T>G (p.Ser751=)
c.232T>G
c.293T>G
c.516T>G (p.Ser172=)
c.72-24203T>G (n.72-24203T>G)
c.2352T>G (p.Ser784=)
c.1967T>G
c.1504T>G
c.1252T>G
c.2430T>G (p.Ser810=)
c.2376T>G (p.Ser792=)
n.2445T>G
n.2533T>G
n.2405T>G
n.2281T>G
n.2541T>G
3g.47122284A>GCA433602118SETD2c.2220T>C (p.Ser740=)
c.2253T>C (p.Ser751=)
c.232T>C
c.293T>C
c.516T>C (p.Ser172=)
c.72-24203T>C (n.72-24203T>C)
c.2352T>C (p.Ser784=)
c.1967T>C
c.1504T>C
c.1252T>C
c.2430T>C (p.Ser810=)
c.2376T>C (p.Ser792=)
n.2445T>C
n.2533T>C
n.2405T>C
n.2281T>C
n.2541T>C
3g.47122284A>TCA433602119SETD2c.2220T>A (p.Ser740=)
c.2253T>A (p.Ser751=)
c.232T>A
c.293T>A
c.516T>A (p.Ser172=)
c.72-24203T>A (n.72-24203T>A)
c.2352T>A (p.Ser784=)
c.1967T>A
c.1504T>A
c.1252T>A
c.2430T>A (p.Ser810=)
c.2376T>A (p.Ser792=)
n.2445T>A
n.2533T>A
n.2405T>A
n.2281T>A
n.2541T>A
 dbSNP
3g.47122285G>ACA352526760SETD2c.2219C>T (p.Ser740Phe)
c.2252C>T (p.Ser751Phe)
c.231C>T
c.292C>T
c.515C>T (p.Ser172Phe)
c.72-24204C>T (n.72-24204C>T)
c.2351C>T (p.Ser784Phe)
c.1966C>T
c.1503C>T
c.1251C>T
c.2429C>T (p.Ser810Phe)
c.2375C>T (p.Ser792Phe)
n.2444C>T
n.2532C>T
n.2404C>T
n.2280C>T
n.2540C>T
 dbSNP
3g.47122285G>CCA352526761SETD2c.2219C>G (p.Ser740Cys)
c.2252C>G (p.Ser751Cys)
c.231C>G
c.292C>G
c.515C>G (p.Ser172Cys)
c.72-24204C>G (n.72-24204C>G)
c.2351C>G (p.Ser784Cys)
c.1966C>G
c.1503C>G
c.1251C>G
c.2429C>G (p.Ser810Cys)
c.2375C>G (p.Ser792Cys)
n.2444C>G
n.2532C>G
n.2404C>G
n.2280C>G
n.2540C>G
 dbSNP
3g.47122285G>TCA352526763SETD2c.2219C>A (p.Ser740Tyr)
c.2252C>A (p.Ser751Tyr)
c.231C>A
c.292C>A
c.515C>A (p.Ser172Tyr)
c.72-24204C>A (n.72-24204C>A)
c.2351C>A (p.Ser784Tyr)
c.1966C>A
c.1503C>A
c.1251C>A
c.2429C>A (p.Ser810Tyr)
c.2375C>A (p.Ser792Tyr)
n.2444C>A
n.2532C>A
n.2404C>A
n.2280C>A
n.2540C>A
3g.47122286A>CCA352526765SETD2c.2218T>G (p.Ser740Ala)
c.2251T>G (p.Ser751Ala)
c.230T>G
c.291T>G
c.514T>G (p.Ser172Ala)
c.72-24205T>G (n.72-24205T>G)
c.2350T>G (p.Ser784Ala)
c.1965T>G
c.1502T>G
c.1250T>G
c.2428T>G (p.Ser810Ala)
c.2374T>G (p.Ser792Ala)
n.2443T>G
n.2531T>G
n.2403T>G
n.2279T>G
n.2539T>G
 dbSNP
3g.47122286A>GCA352526766SETD2c.2218T>C (p.Ser740Pro)
c.2251T>C (p.Ser751Pro)
c.230T>C
c.291T>C
c.514T>C (p.Ser172Pro)
c.72-24205T>C (n.72-24205T>C)
c.2350T>C (p.Ser784Pro)
c.1965T>C
c.1502T>C
c.1250T>C
c.2428T>C (p.Ser810Pro)
c.2374T>C (p.Ser792Pro)
n.2443T>C
n.2531T>C
n.2403T>C
n.2279T>C
n.2539T>C
 dbSNP
3g.47122286A>TCA352526767SETD2c.2218T>A (p.Ser740Thr)
c.2251T>A (p.Ser751Thr)
c.230T>A
c.291T>A
c.514T>A (p.Ser172Thr)
c.72-24205T>A (n.72-24205T>A)
c.2350T>A (p.Ser784Thr)
c.1965T>A
c.1502T>A
c.1250T>A
c.2428T>A (p.Ser810Thr)
c.2374T>A (p.Ser792Thr)
n.2443T>A
n.2531T>A
n.2403T>A
n.2279T>A
n.2539T>A
 dbSNP
3g.47122287A>CCA433602125SETD2c.2217T>G (p.Val739=)
c.2250T>G (p.Val750=)
c.229T>G
c.290T>G
c.513T>G (p.Val171=)
c.72-24206T>G (n.72-24206T>G)
c.2349T>G (p.Val783=)
c.1964T>G
c.1501T>G
c.1249T>G
c.2427T>G (p.Val809=)
c.2373T>G (p.Val791=)
n.2442T>G
n.2530T>G
n.2402T>G
n.2278T>G
n.2538T>G
 dbSNP
3g.47122287A>GCA433602128SETD2c.2217T>C (p.Val739=)
c.2250T>C (p.Val750=)
c.229T>C
c.290T>C
c.513T>C (p.Val171=)
c.72-24206T>C (n.72-24206T>C)
c.2349T>C (p.Val783=)
c.1964T>C
c.1501T>C
c.1249T>C
c.2427T>C (p.Val809=)
c.2373T>C (p.Val791=)
n.2442T>C
n.2530T>C
n.2402T>C
n.2278T>C
n.2538T>C
 dbSNP
3g.47122287A>TCA433602123SETD2c.2217T>A (p.Val739=)
c.2250T>A (p.Val750=)
c.229T>A
c.290T>A
c.513T>A (p.Val171=)
c.72-24206T>A (n.72-24206T>A)
c.2349T>A (p.Val783=)
c.1964T>A
c.1501T>A
c.1249T>A
c.2427T>A (p.Val809=)
c.2373T>A (p.Val791=)
n.2442T>A
n.2530T>A
n.2402T>A
n.2278T>A
n.2538T>A
 dbSNP
3g.47122288A>CCA352526768SETD2c.2216T>G (p.Val739Gly)
c.2249T>G (p.Val750Gly)
c.228T>G
c.289T>G
c.512T>G (p.Val171Gly)
c.72-24207T>G (n.72-24207T>G)
c.2348T>G (p.Val783Gly)
c.1963T>G
c.1500T>G
c.1248T>G
c.2426T>G (p.Val809Gly)
c.2372T>G (p.Val791Gly)
n.2441T>G
n.2529T>G
n.2401T>G
n.2277T>G
n.2537T>G
 dbSNP
3g.47122288A>GCA352526771SETD2c.2216T>C (p.Val739Ala)
c.2249T>C (p.Val750Ala)
c.228T>C
c.289T>C
c.512T>C (p.Val171Ala)
c.72-24207T>C (n.72-24207T>C)
c.2348T>C (p.Val783Ala)
c.1963T>C
c.1500T>C
c.1248T>C
c.2426T>C (p.Val809Ala)
c.2372T>C (p.Val791Ala)
n.2441T>C
n.2529T>C
n.2401T>C
n.2277T>C
n.2537T>C
 dbSNP
3g.47122288A>TCA352526769SETD2c.2216T>A (p.Val739Asp)
c.2249T>A (p.Val750Asp)
c.228T>A
c.289T>A
c.512T>A (p.Val171Asp)
c.72-24207T>A (n.72-24207T>A)
c.2348T>A (p.Val783Asp)
c.1963T>A
c.1500T>A
c.1248T>A
c.2426T>A (p.Val809Asp)
c.2372T>A (p.Val791Asp)
n.2441T>A
n.2529T>A
n.2401T>A
n.2277T>A
n.2537T>A
 dbSNP
3g.47122289C>ACA352526773SETD2c.2215G>T (p.Val739Phe)
c.2248G>T (p.Val750Phe)
c.227G>T
c.288G>T
c.511G>T (p.Val171Phe)
c.72-24208G>T (n.72-24208G>T)
c.2347G>T (p.Val783Phe)
c.1962G>T
c.1499G>T
c.1247G>T
c.2425G>T (p.Val809Phe)
c.2371G>T (p.Val791Phe)
n.2440G>T
n.2528G>T
n.2400G>T
n.2276G>T
n.2536G>T
 dbSNP
3g.47122289C=CA1362418059SETD2c.2215G= (p.Val739=)
c.2248G= (p.Val750=)
c.227G=
c.288G=
c.511G= (p.Val171=)
c.72-24208G= (n.72-24208G=)
c.2347G= (p.Val783=)
c.1962G=
c.1499G=
c.1247G=
c.2425G= (p.Val809=)
c.2371G= (p.Val791=)
n.2440G=
n.2528G=
n.2400G=
n.2276G=
n.2536G=
3g.47122289C>GCA352526775SETD2c.2215G>C (p.Val739Leu)
c.2248G>C (p.Val750Leu)
c.227G>C
c.288G>C
c.511G>C (p.Val171Leu)
c.72-24208G>C (n.72-24208G>C)
c.2347G>C (p.Val783Leu)
c.1962G>C
c.1499G>C
c.1247G>C
c.2425G>C (p.Val809Leu)
c.2371G>C (p.Val791Leu)
n.2440G>C
n.2528G>C
n.2400G>C
n.2276G>C
n.2536G>C
 dbSNP
3g.47122289C>TCA352526776SETD2c.2215G>A (p.Val739Ile)
c.2248G>A (p.Val750Ile)
c.227G>A
c.288G>A
c.511G>A (p.Val171Ile)
c.72-24208G>A (n.72-24208G>A)
c.2347G>A (p.Val783Ile)
c.1962G>A
c.1499G>A
c.1247G>A
c.2425G>A (p.Val809Ile)
c.2371G>A (p.Val791Ile)
n.2440G>A
n.2528G>A
n.2400G>A
n.2276G>A
n.2536G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47122290C>ACA352526779SETD2c.2214G>T (p.Arg738Ser)
c.2247G>T (p.Arg749Ser)
c.226G>T
c.287G>T
c.510G>T (p.Arg170Ser)
c.72-24209G>T (n.72-24209G>T)
c.2346G>T (p.Arg782Ser)
c.1961G>T
c.1498G>T
c.1246G>T
c.2424G>T (p.Arg808Ser)
c.2370G>T (p.Arg790Ser)
n.2439G>T
n.2527G>T
n.2399G>T
n.2275G>T
n.2535G>T
 dbSNP gnomAD v4
3g.47122290C>GCA352526780SETD2c.2214G>C (p.Arg738Ser)
c.2247G>C (p.Arg749Ser)
c.226G>C
c.287G>C
c.510G>C (p.Arg170Ser)
c.72-24209G>C (n.72-24209G>C)
c.2346G>C (p.Arg782Ser)
c.1961G>C
c.1498G>C
c.1246G>C
c.2424G>C (p.Arg808Ser)
c.2370G>C (p.Arg790Ser)
n.2439G>C
n.2527G>C
n.2399G>C
n.2275G>C
n.2535G>C
 dbSNP
3g.47122290C>TCA433602131SETD2c.2214G>A (p.Arg738=)
c.2247G>A (p.Arg749=)
c.226G>A
c.287G>A
c.510G>A (p.Arg170=)
c.72-24209G>A (n.72-24209G>A)
c.2346G>A (p.Arg782=)
c.1961G>A
c.1498G>A
c.1246G>A
c.2424G>A (p.Arg808=)
c.2370G>A (p.Arg790=)
n.2439G>A
n.2527G>A
n.2399G>A
n.2275G>A
n.2535G>A
 dbSNP gnomAD v4
3g.47122291C>ACA352526782SETD2c.2213G>T (p.Arg738Met)
c.2246G>T (p.Arg749Met)
c.225G>T
c.286G>T
c.509G>T (p.Arg170Met)
c.72-24210G>T (n.72-24210G>T)
c.2345G>T (p.Arg782Met)
c.1960G>T
c.1497G>T
c.1245G>T
c.2423G>T (p.Arg808Met)
c.2369G>T (p.Arg790Met)
n.2438G>T
n.2526G>T
n.2398G>T
n.2274G>T
n.2534G>T
 dbSNP
3g.47122291C>GCA352526783SETD2c.2213G>C (p.Arg738Thr)
c.2246G>C (p.Arg749Thr)
c.225G>C
c.286G>C
c.509G>C (p.Arg170Thr)
c.72-24210G>C (n.72-24210G>C)
c.2345G>C (p.Arg782Thr)
c.1960G>C
c.1497G>C
c.1245G>C
c.2423G>C (p.Arg808Thr)
c.2369G>C (p.Arg790Thr)
n.2438G>C
n.2526G>C
n.2398G>C
n.2274G>C
n.2534G>C
 dbSNP
3g.47122291C>TCA352526784SETD2c.2213G>A (p.Arg738Lys)
c.2246G>A (p.Arg749Lys)
c.225G>A
c.286G>A
c.509G>A (p.Arg170Lys)
c.72-24210G>A (n.72-24210G>A)
c.2345G>A (p.Arg782Lys)
c.1960G>A
c.1497G>A
c.1245G>A
c.2423G>A (p.Arg808Lys)
c.2369G>A (p.Arg790Lys)
n.2438G>A
n.2526G>A
n.2398G>A
n.2274G>A
n.2534G>A
 dbSNP
3g.47122292T>ACA352526787SETD2c.2212A>T (p.Arg738Trp)
c.2245A>T (p.Arg749Trp)
c.224A>T
c.285A>T
c.508A>T (p.Arg170Trp)
c.72-24211A>T (n.72-24211A>T)
c.2344A>T (p.Arg782Trp)
c.1959A>T
c.1496A>T
c.1244A>T
c.2422A>T (p.Arg808Trp)
c.2368A>T (p.Arg790Trp)
n.2437A>T
n.2525A>T
n.2397A>T
n.2273A>T
n.2533A>T
 dbSNP
3g.47122292T>CCA2363547SETD2c.2212A>G (p.Arg738Gly)
c.2245A>G (p.Arg749Gly)
c.224A>G
c.285A>G
c.508A>G (p.Arg170Gly)
c.72-24211A>G (n.72-24211A>G)
c.2344A>G (p.Arg782Gly)
c.1959A>G
c.1496A>G
c.1244A>G
c.2422A>G (p.Arg808Gly)
c.2368A>G (p.Arg790Gly)
n.2437A>G
n.2525A>G
n.2397A>G
n.2273A>G
n.2533A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47122292T>GCA2363548SETD2c.2212A>C (p.Arg738=)
c.2245A>C (p.Arg749=)
c.224A>C
c.285A>C
c.508A>C (p.Arg170=)
c.72-24211A>C (n.72-24211A>C)
c.2344A>C (p.Arg782=)
c.1959A>C
c.1496A>C
c.1244A>C
c.2422A>C (p.Arg808=)
c.2368A>C (p.Arg790=)
n.2437A>C
n.2525A>C
n.2397A>C
n.2273A>C
n.2533A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47122292T=CA1362418061SETD2c.2212A= (p.Arg738=)
c.2245A= (p.Arg749=)
c.224A=
c.285A=
c.508A= (p.Arg170=)
c.72-24211A= (n.72-24211A=)
c.2344A= (p.Arg782=)
c.1959A=
c.1496A=
c.1244A=
c.2422A= (p.Arg808=)
c.2368A= (p.Arg790=)
n.2437A=
n.2525A=
n.2397A=
n.2273A=
n.2533A=
3g.47122293C>ACA433602140SETD2c.2211G>T (p.Thr737=)
c.2244G>T (p.Thr748=)
c.223G>T
c.284G>T
c.507G>T (p.Thr169=)
c.72-24212G>T (n.72-24212G>T)
c.2343G>T (p.Thr781=)
c.1958G>T
c.1495G>T
c.1243G>T
c.2421G>T (p.Thr807=)
c.2367G>T (p.Thr789=)
n.2436G>T
n.2524G>T
n.2396G>T
n.2272G>T
n.2532G>T
 dbSNP
3g.47122293C=CA1362418063SETD2c.2211G= (p.Thr737=)
c.2244G= (p.Thr748=)
c.223G=
c.284G=
c.507G= (p.Thr169=)
c.72-24212G= (n.72-24212G=)
c.2343G= (p.Thr781=)
c.1958G=
c.1495G=
c.1243G=
c.2421G= (p.Thr807=)
c.2367G= (p.Thr789=)
n.2436G=
n.2524G=
n.2396G=
n.2272G=
n.2532G=
3g.47122293C>GCA433602141SETD2c.2211G>C (p.Thr737=)
c.2244G>C (p.Thr748=)
c.223G>C
c.284G>C
c.507G>C (p.Thr169=)
c.72-24212G>C (n.72-24212G>C)
c.2343G>C (p.Thr781=)
c.1958G>C
c.1495G>C
c.1243G>C
c.2421G>C (p.Thr807=)
c.2367G>C (p.Thr789=)
n.2436G>C
n.2524G>C
n.2396G>C
n.2272G>C
n.2532G>C
 dbSNP
3g.47122293C>TCA2363549SETD2c.2211G>A (p.Thr737=)
c.2244G>A (p.Thr748=)
c.223G>A
c.284G>A
c.507G>A (p.Thr169=)
c.72-24212G>A (n.72-24212G>A)
c.2343G>A (p.Thr781=)
c.1958G>A
c.1495G>A
c.1243G>A
c.2421G>A (p.Thr807=)
c.2367G>A (p.Thr789=)
n.2436G>A
n.2524G>A
n.2396G>A
n.2272G>A
n.2532G>A
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched