Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25742016_25742017del | CA767202327 | ASXL2 | c.*15_*16del (n.*15_*16del) | dbSNP gnomAD v4 |
2 | g.25742017T>C | CA2576695331 | ASXL2 | c.*12A>G (n.*12A>G) | gnomAD v4 |
2 | g.25742018T>C | CA2658189289 | ASXL2 | c.*11A>G (n.*11A>G) | gnomAD v4 |
2 | g.25742019T>C | CA2658189290 | ASXL2 | c.*10A>G (n.*10A>G) | ClinVar gnomAD v4 |
2 | g.25742023G>C | CA531761048 | ASXL2 | c.*6C>G (n.*6C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742023G= | CA1239490298 | ASXL2 | c.*6C= (n.*6C=) | |
2 | g.25742024T>C | CA1028563333 | ASXL2 | c.*5A>G (n.*5A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742024T= | CA1239490299 | ASXL2 | c.*5A= (n.*5A=) | |
2 | g.25742025C= | CA1239490300 | ASXL2 | c.*4G= (n.*4G=) | |
2 | g.25742025C>G | CA2658189291 | ASXL2 | c.*4G>C (n.*4G>C) | gnomAD v4 |
2 | g.25742025C>T | CA43734118 | ASXL2 | c.*4G>A (n.*4G>A) | dbSNP |
2 | g.25742028A>C | CA2576695332 | ASXL2 | c.*1T>G (n.*1T>G) | |
2 | g.25742029T>A | CA346073439 | ASXL2 | c.4305A>T (p.Ter1435Tyr) c.4308A>T (p.Ter1436Tyr) c.4224A>T (p.Ter1408Tyr) c.2757A>T (p.Ter919Tyr) c.3942A>T (p.Ter1314Tyr) c.3528A>T (p.Ter1176Tyr) c.4134A>T (p.Ter1378Tyr) c.4488A>T (p.Ter1496Tyr) | |
2 | g.25742029T>C | CA425181231 | ASXL2 | c.4305A>G (p.Ter1435=) c.4308A>G (p.Ter1436=) c.4224A>G (p.Ter1408=) c.2757A>G (p.Ter919=) c.3942A>G (p.Ter1314=) c.3528A>G (p.Ter1176=) c.4134A>G (p.Ter1378=) c.4488A>G (p.Ter1496=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742029T>G | CA346073440 | ASXL2 | c.4305A>C (p.Ter1435Tyr) c.4308A>C (p.Ter1436Tyr) c.4224A>C (p.Ter1408Tyr) c.2757A>C (p.Ter919Tyr) c.3942A>C (p.Ter1314Tyr) c.3528A>C (p.Ter1176Tyr) c.4134A>C (p.Ter1378Tyr) c.4488A>C (p.Ter1496Tyr) | |
2 | g.25742029T= | CA1239490301 | ASXL2 | c.4305A= (p.Ter1435=) c.4308A= (p.Ter1436=) c.4224A= (p.Ter1408=) c.2757A= (p.Ter919=) c.3942A= (p.Ter1314=) c.3528A= (p.Ter1176=) c.4134A= (p.Ter1378=) c.4488A= (p.Ter1496=) | |
2 | g.25742030T>A | CA346073441 | ASXL2 | c.4304A>T (p.Ter1435Leu) c.4307A>T (p.Ter1436Leu) c.4223A>T (p.Ter1408Leu) c.2756A>T (p.Ter919Leu) c.3941A>T (p.Ter1314Leu) c.3527A>T (p.Ter1176Leu) c.4133A>T (p.Ter1378Leu) c.4487A>T (p.Ter1496Leu) | |
2 | g.25742030T>C | CA43734120 | ASXL2 | c.4304A>G (p.Ter1435=) c.4307A>G (p.Ter1436=) c.4223A>G (p.Ter1408=) c.2756A>G (p.Ter919=) c.3941A>G (p.Ter1314=) c.3527A>G (p.Ter1176=) c.4133A>G (p.Ter1378=) c.4487A>G (p.Ter1496=) | dbSNP gnomAD v4 |
2 | g.25742030T>G | CA346073442 | ASXL2 | c.4304A>C (p.Ter1435Ser) c.4307A>C (p.Ter1436Ser) c.4223A>C (p.Ter1408Ser) c.2756A>C (p.Ter919Ser) c.3941A>C (p.Ter1314Ser) c.3527A>C (p.Ter1176Ser) c.4133A>C (p.Ter1378Ser) c.4487A>C (p.Ter1496Ser) | |
2 | g.25742030T= | CA1239490302 | ASXL2 | c.4304A= (p.Ter1435=) c.4307A= (p.Ter1436=) c.4223A= (p.Ter1408=) c.2756A= (p.Ter919=) c.3941A= (p.Ter1314=) c.3527A= (p.Ter1176=) c.4133A= (p.Ter1378=) c.4487A= (p.Ter1496=) | |
2 | g.25742031A>C | CA346073443 | ASXL2 | c.4303T>G (p.Ter1435Glu) c.4306T>G (p.Ter1436Glu) c.4222T>G (p.Ter1408Glu) c.2755T>G (p.Ter919Glu) c.3940T>G (p.Ter1314Glu) c.3526T>G (p.Ter1176Glu) c.4132T>G (p.Ter1378Glu) c.4486T>G (p.Ter1496Glu) | gnomAD v4 |
2 | g.25742031A>G | CA346073445 | ASXL2 | c.4303T>C (p.Ter1435Gln) c.4306T>C (p.Ter1436Gln) c.4222T>C (p.Ter1408Gln) c.2755T>C (p.Ter919Gln) c.3940T>C (p.Ter1314Gln) c.3526T>C (p.Ter1176Gln) c.4132T>C (p.Ter1378Gln) c.4486T>C (p.Ter1496Gln) | |
2 | g.25742031A>T | CA346073444 | ASXL2 | c.4303T>A (p.Ter1435Lys) c.4306T>A (p.Ter1436Lys) c.4222T>A (p.Ter1408Lys) c.2755T>A (p.Ter919Lys) c.3940T>A (p.Ter1314Lys) c.3526T>A (p.Ter1176Lys) c.4132T>A (p.Ter1378Lys) c.4486T>A (p.Ter1496Lys) | |
2 | g.25742032C>A | CA425181233 | ASXL2 | c.4302G>T (p.Arg1434=) c.4305G>T (p.Arg1435=) c.4221G>T (p.Arg1407=) c.2754G>T (p.Arg918=) c.3939G>T (p.Arg1313=) c.3525G>T (p.Arg1175=) c.4131G>T (p.Arg1377=) c.4485G>T (p.Arg1495=) | |
2 | g.25742032C>G | CA425181234 | ASXL2 | c.4302G>C (p.Arg1434=) c.4305G>C (p.Arg1435=) c.4221G>C (p.Arg1407=) c.2754G>C (p.Arg918=) c.3939G>C (p.Arg1313=) c.3525G>C (p.Arg1175=) c.4131G>C (p.Arg1377=) c.4485G>C (p.Arg1495=) | |
2 | g.25742032C>T | CA425181235 | ASXL2 | c.4302G>A (p.Arg1434=) c.4305G>A (p.Arg1435=) c.4221G>A (p.Arg1407=) c.2754G>A (p.Arg918=) c.3939G>A (p.Arg1313=) c.3525G>A (p.Arg1175=) c.4131G>A (p.Arg1377=) c.4485G>A (p.Arg1495=) | |
2 | g.25742033C>A | CA1557316 | ASXL2 | c.4301G>T (p.Arg1434Leu) c.4304G>T (p.Arg1435Leu) c.4220G>T (p.Arg1407Leu) c.2753G>T (p.Arg918Leu) c.3938G>T (p.Arg1313Leu) c.3524G>T (p.Arg1175Leu) c.4130G>T (p.Arg1377Leu) c.4484G>T (p.Arg1495Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742033C= | CA1239490303 | ASXL2 | c.4301G= (p.Arg1434=) c.4304G= (p.Arg1435=) c.4220G= (p.Arg1407=) c.2753G= (p.Arg918=) c.3938G= (p.Arg1313=) c.3524G= (p.Arg1175=) c.4130G= (p.Arg1377=) c.4484G= (p.Arg1495=) | |
2 | g.25742033C>G | CA346073446 | ASXL2 | c.4301G>C (p.Arg1434Pro) c.4304G>C (p.Arg1435Pro) c.4220G>C (p.Arg1407Pro) c.2753G>C (p.Arg918Pro) c.3938G>C (p.Arg1313Pro) c.3524G>C (p.Arg1175Pro) c.4130G>C (p.Arg1377Pro) c.4484G>C (p.Arg1495Pro) | dbSNP gnomAD v4 |
2 | g.25742033C>T | CA43734121 | ASXL2 | c.4301G>A (p.Arg1434Gln) c.4304G>A (p.Arg1435Gln) c.4220G>A (p.Arg1407Gln) c.2753G>A (p.Arg918Gln) c.3938G>A (p.Arg1313Gln) c.3524G>A (p.Arg1175Gln) c.4130G>A (p.Arg1377Gln) c.4484G>A (p.Arg1495Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742034G>A | CA1557318 | ASXL2 | c.4300C>T (p.Arg1434Trp) c.4303C>T (p.Arg1435Trp) c.4219C>T (p.Arg1407Trp) c.2752C>T (p.Arg918Trp) c.3937C>T (p.Arg1313Trp) c.3523C>T (p.Arg1175Trp) c.4129C>T (p.Arg1377Trp) c.4483C>T (p.Arg1495Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742034G>C | CA1557317 | ASXL2 | c.4300C>G (p.Arg1434Gly) c.4303C>G (p.Arg1435Gly) c.4219C>G (p.Arg1407Gly) c.2752C>G (p.Arg918Gly) c.3937C>G (p.Arg1313Gly) c.3523C>G (p.Arg1175Gly) c.4129C>G (p.Arg1377Gly) c.4483C>G (p.Arg1495Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742034G= | CA1239490304 | ASXL2 | c.4300C= (p.Arg1434=) c.4303C= (p.Arg1435=) c.4219C= (p.Arg1407=) c.2752C= (p.Arg918=) c.3937C= (p.Arg1313=) c.3523C= (p.Arg1175=) c.4129C= (p.Arg1377=) c.4483C= (p.Arg1495=) | |
2 | g.25742034G>T | CA425181236 | ASXL2 | c.4300C>A (p.Arg1434=) c.4303C>A (p.Arg1435=) c.4219C>A (p.Arg1407=) c.2752C>A (p.Arg918=) c.3937C>A (p.Arg1313=) c.3523C>A (p.Arg1175=) c.4129C>A (p.Arg1377=) c.4483C>A (p.Arg1495=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742035_25742036insCATTACTGA | CA531761049 | ASXL2 | c.4300_4301insAGTAATGTC (p.Arg1434GlnfsTer2) c.4303_4304insAGTAATGTC (p.Arg1435GlnfsTer2) c.4219_4220insAGTAATGTC (p.Arg1407GlnfsTer2) c.2752_2753insAGTAATGTC (p.Arg918GlnfsTer2) c.3937_3938insAGTAATGTC (p.Arg1313GlnfsTer2) c.3523_3524insAGTAATGTC (p.Arg1175GlnfsTer2) c.4129_4130insAGTAATGTC (p.Arg1377GlnfsTer2) c.4483_4484insAGTAATGTC (p.Arg1495GlnfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742035A>C | CA425181237 | ASXL2 | c.4299T>G (p.Val1433=) c.4302T>G (p.Val1434=) c.4218T>G (p.Val1406=) c.2751T>G (p.Val917=) c.3936T>G (p.Val1312=) c.3522T>G (p.Val1174=) c.4128T>G (p.Val1376=) c.4482T>G (p.Val1494=) | |
2 | g.25742035A>G | CA425181238 | ASXL2 | c.4299T>C (p.Val1433=) c.4302T>C (p.Val1434=) c.4218T>C (p.Val1406=) c.2751T>C (p.Val917=) c.3936T>C (p.Val1312=) c.3522T>C (p.Val1174=) c.4128T>C (p.Val1376=) c.4482T>C (p.Val1494=) | |
2 | g.25742035A>T | CA425181239 | ASXL2 | c.4299T>A (p.Val1433=) c.4302T>A (p.Val1434=) c.4218T>A (p.Val1406=) c.2751T>A (p.Val917=) c.3936T>A (p.Val1312=) c.3522T>A (p.Val1174=) c.4128T>A (p.Val1376=) c.4482T>A (p.Val1494=) | |
2 | g.25742035_25742038delinsAACG | CA1239490305 | ASXL2 | c.4296_4299delinsCGTT (p.Val1432=) c.4299_4302delinsCGTT (p.Val1433=) c.4215_4218delinsCGTT (p.Val1405=) c.2748_2751delinsCGTT (p.Val916=) c.3933_3936delinsCGTT (p.Val1311=) c.3519_3522delinsCGTT (p.Val1173=) c.4125_4128delinsCGTT (p.Val1375=) c.4479_4482delinsCGTT (p.Val1493=) | |
2 | g.25742036A>C | CA346073447 | ASXL2 | c.4298T>G (p.Val1433Gly) c.4301T>G (p.Val1434Gly) c.4217T>G (p.Val1406Gly) c.2750T>G (p.Val917Gly) c.3935T>G (p.Val1312Gly) c.3521T>G (p.Val1174Gly) c.4127T>G (p.Val1376Gly) c.4481T>G (p.Val1494Gly) | |
2 | g.25742036A>G | CA346073448 | ASXL2 | c.4298T>C (p.Val1433Ala) c.4301T>C (p.Val1434Ala) c.4217T>C (p.Val1406Ala) c.2750T>C (p.Val917Ala) c.3935T>C (p.Val1312Ala) c.3521T>C (p.Val1174Ala) c.4127T>C (p.Val1376Ala) c.4481T>C (p.Val1494Ala) | |
2 | g.25742036A>T | CA346073449 | ASXL2 | c.4298T>A (p.Val1433Asp) c.4301T>A (p.Val1434Asp) c.4217T>A (p.Val1406Asp) c.2750T>A (p.Val917Asp) c.3935T>A (p.Val1312Asp) c.3521T>A (p.Val1174Asp) c.4127T>A (p.Val1376Asp) c.4481T>A (p.Val1494Asp) | |
2 | g.25742038_25742040del | CA1239490306 | ASXL2 | c.4296_4298del (p.Val1433del) c.4299_4301del (p.Val1434del) c.4215_4217del (p.Val1406del) c.2748_2750del (p.Val917del) c.3933_3935del (p.Val1312del) c.3519_3521del (p.Val1174del) c.4125_4127del (p.Val1376del) c.4479_4481del (p.Val1494del) | dbSNP gnomAD v4 |
2 | g.25742037C>A | CA346073450 | ASXL2 | c.4297G>T (p.Val1433Phe) c.4300G>T (p.Val1434Phe) c.4216G>T (p.Val1406Phe) c.2749G>T (p.Val917Phe) c.3934G>T (p.Val1312Phe) c.3520G>T (p.Val1174Phe) c.4126G>T (p.Val1376Phe) c.4480G>T (p.Val1494Phe) | |
2 | g.25742037C= | CA1239490307 | ASXL2 | c.4297G= (p.Val1433=) c.4300G= (p.Val1434=) c.4216G= (p.Val1406=) c.2749G= (p.Val917=) c.3934G= (p.Val1312=) c.3520G= (p.Val1174=) c.4126G= (p.Val1376=) c.4480G= (p.Val1494=) | |
2 | g.25742037C>G | CA346073451 | ASXL2 | c.4297G>C (p.Val1433Leu) c.4300G>C (p.Val1434Leu) c.4216G>C (p.Val1406Leu) c.2749G>C (p.Val917Leu) c.3934G>C (p.Val1312Leu) c.3520G>C (p.Val1174Leu) c.4126G>C (p.Val1376Leu) c.4480G>C (p.Val1494Leu) | gnomAD v4 |
2 | g.25742037C>T | CA346073452 | ASXL2 | c.4297G>A (p.Val1433Ile) c.4300G>A (p.Val1434Ile) c.4216G>A (p.Val1406Ile) c.2749G>A (p.Val917Ile) c.3934G>A (p.Val1312Ile) c.3520G>A (p.Val1174Ile) c.4126G>A (p.Val1376Ile) c.4480G>A (p.Val1494Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742038G>A | CA1557319 | ASXL2 | c.4296C>T (p.Val1432=) c.4299C>T (p.Val1433=) c.4215C>T (p.Val1405=) c.2748C>T (p.Val916=) c.3933C>T (p.Val1311=) c.3519C>T (p.Val1173=) c.4125C>T (p.Val1375=) c.4479C>T (p.Val1493=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742038G>C | CA1557320 | ASXL2 | c.4296C>G (p.Val1432=) c.4299C>G (p.Val1433=) c.4215C>G (p.Val1405=) c.2748C>G (p.Val916=) c.3933C>G (p.Val1311=) c.3519C>G (p.Val1173=) c.4125C>G (p.Val1375=) c.4479C>G (p.Val1493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742038G= | CA1239490308 | ASXL2 | c.4296C= (p.Val1432=) c.4299C= (p.Val1433=) c.4215C= (p.Val1405=) c.2748C= (p.Val916=) c.3933C= (p.Val1311=) c.3519C= (p.Val1173=) c.4125C= (p.Val1375=) c.4479C= (p.Val1493=) | |
2 | g.25742038G>T | CA425181240 | ASXL2 | c.4296C>A (p.Val1432=) c.4299C>A (p.Val1433=) c.4215C>A (p.Val1405=) c.2748C>A (p.Val916=) c.3933C>A (p.Val1311=) c.3519C>A (p.Val1173=) c.4125C>A (p.Val1375=) c.4479C>A (p.Val1493=) | dbSNP gnomAD v4 |
2 | g.25742039A>C | CA346073455 | ASXL2 | c.4295T>G (p.Val1432Gly) c.4298T>G (p.Val1433Gly) c.4214T>G (p.Val1405Gly) c.2747T>G (p.Val916Gly) c.3932T>G (p.Val1311Gly) c.3518T>G (p.Val1173Gly) c.4124T>G (p.Val1375Gly) c.4478T>G (p.Val1493Gly) | |
2 | g.25742039A>G | CA346073454 | ASXL2 | c.4295T>C (p.Val1432Ala) c.4298T>C (p.Val1433Ala) c.4214T>C (p.Val1405Ala) c.2747T>C (p.Val916Ala) c.3932T>C (p.Val1311Ala) c.3518T>C (p.Val1173Ala) c.4124T>C (p.Val1375Ala) c.4478T>C (p.Val1493Ala) | |
2 | g.25742039A>T | CA346073453 | ASXL2 | c.4295T>A (p.Val1432Asp) c.4298T>A (p.Val1433Asp) c.4214T>A (p.Val1405Asp) c.2747T>A (p.Val916Asp) c.3932T>A (p.Val1311Asp) c.3518T>A (p.Val1173Asp) c.4124T>A (p.Val1375Asp) c.4478T>A (p.Val1493Asp) | |
2 | g.25742040C>A | CA346073456 | ASXL2 | c.4294G>T (p.Val1432Phe) c.4297G>T (p.Val1433Phe) c.4213G>T (p.Val1405Phe) c.2746G>T (p.Val916Phe) c.3931G>T (p.Val1311Phe) c.3517G>T (p.Val1173Phe) c.4123G>T (p.Val1375Phe) c.4477G>T (p.Val1493Phe) | |
2 | g.25742040C>G | CA346073457 | ASXL2 | c.4294G>C (p.Val1432Leu) c.4297G>C (p.Val1433Leu) c.4213G>C (p.Val1405Leu) c.2746G>C (p.Val916Leu) c.3931G>C (p.Val1311Leu) c.3517G>C (p.Val1173Leu) c.4123G>C (p.Val1375Leu) c.4477G>C (p.Val1493Leu) | |
2 | g.25742040C>T | CA346073458 | ASXL2 | c.4294G>A (p.Val1432Ile) c.4297G>A (p.Val1433Ile) c.4213G>A (p.Val1405Ile) c.2746G>A (p.Val916Ile) c.3931G>A (p.Val1311Ile) c.3517G>A (p.Val1173Ile) c.4123G>A (p.Val1375Ile) c.4477G>A (p.Val1493Ile) | |
2 | g.25742041A>C | CA425181241 | ASXL2 | c.4293T>G (p.Leu1431=) c.4296T>G (p.Leu1432=) c.4212T>G (p.Leu1404=) c.2745T>G (p.Leu915=) c.3930T>G (p.Leu1310=) c.3516T>G (p.Leu1172=) c.4122T>G (p.Leu1374=) c.4476T>G (p.Leu1492=) | |
2 | g.25742041A>G | CA425181242 | ASXL2 | c.4293T>C (p.Leu1431=) c.4296T>C (p.Leu1432=) c.4212T>C (p.Leu1404=) c.2745T>C (p.Leu915=) c.3930T>C (p.Leu1310=) c.3516T>C (p.Leu1172=) c.4122T>C (p.Leu1374=) c.4476T>C (p.Leu1492=) | |
2 | g.25742041A>T | CA425181243 | ASXL2 | c.4293T>A (p.Leu1431=) c.4296T>A (p.Leu1432=) c.4212T>A (p.Leu1404=) c.2745T>A (p.Leu915=) c.3930T>A (p.Leu1310=) c.3516T>A (p.Leu1172=) c.4122T>A (p.Leu1374=) c.4476T>A (p.Leu1492=) | |
2 | g.25742042A>C | CA346073459 | ASXL2 | c.4292T>G (p.Leu1431Arg) c.4295T>G (p.Leu1432Arg) c.4211T>G (p.Leu1404Arg) c.2744T>G (p.Leu915Arg) c.3929T>G (p.Leu1310Arg) c.3515T>G (p.Leu1172Arg) c.4121T>G (p.Leu1374Arg) c.4475T>G (p.Leu1492Arg) | |
2 | g.25742042A>G | CA346073460 | ASXL2 | c.4292T>C (p.Leu1431Pro) c.4295T>C (p.Leu1432Pro) c.4211T>C (p.Leu1404Pro) c.2744T>C (p.Leu915Pro) c.3929T>C (p.Leu1310Pro) c.3515T>C (p.Leu1172Pro) c.4121T>C (p.Leu1374Pro) c.4475T>C (p.Leu1492Pro) | |
2 | g.25742042A>T | CA346073461 | ASXL2 | c.4292T>A (p.Leu1431His) c.4295T>A (p.Leu1432His) c.4211T>A (p.Leu1404His) c.2744T>A (p.Leu915His) c.3929T>A (p.Leu1310His) c.3515T>A (p.Leu1172His) c.4121T>A (p.Leu1374His) c.4475T>A (p.Leu1492His) | |
2 | g.25742043G>A | CA346073462 | ASXL2 | c.4291C>T (p.Leu1431Phe) c.4294C>T (p.Leu1432Phe) c.4210C>T (p.Leu1404Phe) c.2743C>T (p.Leu915Phe) c.3928C>T (p.Leu1310Phe) c.3514C>T (p.Leu1172Phe) c.4120C>T (p.Leu1374Phe) c.4474C>T (p.Leu1492Phe) | |
2 | g.25742043G>C | CA346073463 | ASXL2 | c.4291C>G (p.Leu1431Val) c.4294C>G (p.Leu1432Val) c.4210C>G (p.Leu1404Val) c.2743C>G (p.Leu915Val) c.3928C>G (p.Leu1310Val) c.3514C>G (p.Leu1172Val) c.4120C>G (p.Leu1374Val) c.4474C>G (p.Leu1492Val) | |
2 | g.25742043G>T | CA346073464 | ASXL2 | c.4291C>A (p.Leu1431Ile) c.4294C>A (p.Leu1432Ile) c.4210C>A (p.Leu1404Ile) c.2743C>A (p.Leu915Ile) c.3928C>A (p.Leu1310Ile) c.3514C>A (p.Leu1172Ile) c.4120C>A (p.Leu1374Ile) c.4474C>A (p.Leu1492Ile) | |
2 | g.25742044G>A | CA425181244 | ASXL2 | c.4290C>T (p.Cys1430=) c.4293C>T (p.Cys1431=) c.4209C>T (p.Cys1403=) c.2742C>T (p.Cys914=) c.3927C>T (p.Cys1309=) c.3513C>T (p.Cys1171=) c.4119C>T (p.Cys1373=) c.4473C>T (p.Cys1491=) | gnomAD v4 COSMIC COSMIC |
2 | g.25742044G>C | CA346073465 | ASXL2 | c.4290C>G (p.Cys1430Trp) c.4293C>G (p.Cys1431Trp) c.4209C>G (p.Cys1403Trp) c.2742C>G (p.Cys914Trp) c.3927C>G (p.Cys1309Trp) c.3513C>G (p.Cys1171Trp) c.4119C>G (p.Cys1373Trp) c.4473C>G (p.Cys1491Trp) | |
2 | g.25742044G>T | CA346073466 | ASXL2 | c.4290C>A (p.Cys1430Ter) c.4293C>A (p.Cys1431Ter) c.4209C>A (p.Cys1403Ter) c.2742C>A (p.Cys914Ter) c.3927C>A (p.Cys1309Ter) c.3513C>A (p.Cys1171Ter) c.4119C>A (p.Cys1373Ter) c.4473C>A (p.Cys1491Ter) | |
2 | g.25742045C>A | CA346073469 | ASXL2 | c.4289G>T (p.Cys1430Phe) c.4292G>T (p.Cys1431Phe) c.4208G>T (p.Cys1403Phe) c.2741G>T (p.Cys914Phe) c.3926G>T (p.Cys1309Phe) c.3512G>T (p.Cys1171Phe) c.4118G>T (p.Cys1373Phe) c.4472G>T (p.Cys1491Phe) | |
2 | g.25742045C>G | CA346073468 | ASXL2 | c.4289G>C (p.Cys1430Ser) c.4292G>C (p.Cys1431Ser) c.4208G>C (p.Cys1403Ser) c.2741G>C (p.Cys914Ser) c.3926G>C (p.Cys1309Ser) c.3512G>C (p.Cys1171Ser) c.4118G>C (p.Cys1373Ser) c.4472G>C (p.Cys1491Ser) | |
2 | g.25742045C>T | CA346073467 | ASXL2 | c.4289G>A (p.Cys1430Tyr) c.4292G>A (p.Cys1431Tyr) c.4208G>A (p.Cys1403Tyr) c.2741G>A (p.Cys914Tyr) c.3926G>A (p.Cys1309Tyr) c.3512G>A (p.Cys1171Tyr) c.4118G>A (p.Cys1373Tyr) c.4472G>A (p.Cys1491Tyr) | |
2 | g.25742046A>C | CA346073470 | ASXL2 | c.4288T>G (p.Cys1430Gly) c.4291T>G (p.Cys1431Gly) c.4207T>G (p.Cys1403Gly) c.2740T>G (p.Cys914Gly) c.3925T>G (p.Cys1309Gly) c.3511T>G (p.Cys1171Gly) c.4117T>G (p.Cys1373Gly) c.4471T>G (p.Cys1491Gly) | |
2 | g.25742046A>G | CA346073471 | ASXL2 | c.4288T>C (p.Cys1430Arg) c.4291T>C (p.Cys1431Arg) c.4207T>C (p.Cys1403Arg) c.2740T>C (p.Cys914Arg) c.3925T>C (p.Cys1309Arg) c.3511T>C (p.Cys1171Arg) c.4117T>C (p.Cys1373Arg) c.4471T>C (p.Cys1491Arg) | |
2 | g.25742046A>T | CA346073472 | ASXL2 | c.4288T>A (p.Cys1430Ser) c.4291T>A (p.Cys1431Ser) c.4207T>A (p.Cys1403Ser) c.2740T>A (p.Cys914Ser) c.3925T>A (p.Cys1309Ser) c.3511T>A (p.Cys1171Ser) c.4117T>A (p.Cys1373Ser) c.4471T>A (p.Cys1491Ser) | |
2 | g.25742047G>A | CA425181247 | ASXL2 | c.4287C>T (p.Ser1429=) c.4290C>T (p.Ser1430=) c.4206C>T (p.Ser1402=) c.2739C>T (p.Ser913=) c.3924C>T (p.Ser1308=) c.3510C>T (p.Ser1170=) c.4116C>T (p.Ser1372=) c.4470C>T (p.Ser1490=) | |
2 | g.25742047G>C | CA425181246 | ASXL2 | c.4287C>G (p.Ser1429=) c.4290C>G (p.Ser1430=) c.4206C>G (p.Ser1402=) c.2739C>G (p.Ser913=) c.3924C>G (p.Ser1308=) c.3510C>G (p.Ser1170=) c.4116C>G (p.Ser1372=) c.4470C>G (p.Ser1490=) | |
2 | g.25742047G>T | CA425181245 | ASXL2 | c.4287C>A (p.Ser1429=) c.4290C>A (p.Ser1430=) c.4206C>A (p.Ser1402=) c.2739C>A (p.Ser913=) c.3924C>A (p.Ser1308=) c.3510C>A (p.Ser1170=) c.4116C>A (p.Ser1372=) c.4470C>A (p.Ser1490=) | |
2 | g.25742048G>A | CA346073473 | ASXL2 | c.4286C>T (p.Ser1429Phe) c.4289C>T (p.Ser1430Phe) c.4205C>T (p.Ser1402Phe) c.2738C>T (p.Ser913Phe) c.3923C>T (p.Ser1308Phe) c.3509C>T (p.Ser1170Phe) c.4115C>T (p.Ser1372Phe) c.4469C>T (p.Ser1490Phe) | |
2 | g.25742048G>C | CA346073474 | ASXL2 | c.4286C>G (p.Ser1429Cys) c.4289C>G (p.Ser1430Cys) c.4205C>G (p.Ser1402Cys) c.2738C>G (p.Ser913Cys) c.3923C>G (p.Ser1308Cys) c.3509C>G (p.Ser1170Cys) c.4115C>G (p.Ser1372Cys) c.4469C>G (p.Ser1490Cys) | |
2 | g.25742048G>T | CA346073475 | ASXL2 | c.4286C>A (p.Ser1429Tyr) c.4289C>A (p.Ser1430Tyr) c.4205C>A (p.Ser1402Tyr) c.2738C>A (p.Ser913Tyr) c.3923C>A (p.Ser1308Tyr) c.3509C>A (p.Ser1170Tyr) c.4115C>A (p.Ser1372Tyr) c.4469C>A (p.Ser1490Tyr) | |
2 | g.25742049A>C | CA346073476 | ASXL2 | c.4285T>G (p.Ser1429Ala) c.4288T>G (p.Ser1430Ala) c.4204T>G (p.Ser1402Ala) c.2737T>G (p.Ser913Ala) c.3922T>G (p.Ser1308Ala) c.3508T>G (p.Ser1170Ala) c.4114T>G (p.Ser1372Ala) c.4468T>G (p.Ser1490Ala) | |
2 | g.25742049A>G | CA346073477 | ASXL2 | c.4285T>C (p.Ser1429Pro) c.4288T>C (p.Ser1430Pro) c.4204T>C (p.Ser1402Pro) c.2737T>C (p.Ser913Pro) c.3922T>C (p.Ser1308Pro) c.3508T>C (p.Ser1170Pro) c.4114T>C (p.Ser1372Pro) c.4468T>C (p.Ser1490Pro) | |
2 | g.25742049A>T | CA346073478 | ASXL2 | c.4285T>A (p.Ser1429Thr) c.4288T>A (p.Ser1430Thr) c.4204T>A (p.Ser1402Thr) c.2737T>A (p.Ser913Thr) c.3922T>A (p.Ser1308Thr) c.3508T>A (p.Ser1170Thr) c.4114T>A (p.Ser1372Thr) c.4468T>A (p.Ser1490Thr) | |
2 | g.25742050G>A | CA425181248 | ASXL2 | c.4284C>T (p.Val1428=) c.4287C>T (p.Val1429=) c.4203C>T (p.Val1401=) c.2736C>T (p.Val912=) c.3921C>T (p.Val1307=) c.3507C>T (p.Val1169=) c.4113C>T (p.Val1371=) c.4467C>T (p.Val1489=) | |
2 | g.25742050G>C | CA425181249 | ASXL2 | c.4284C>G (p.Val1428=) c.4287C>G (p.Val1429=) c.4203C>G (p.Val1401=) c.2736C>G (p.Val912=) c.3921C>G (p.Val1307=) c.3507C>G (p.Val1169=) c.4113C>G (p.Val1371=) c.4467C>G (p.Val1489=) | |
2 | g.25742050G>T | CA425181250 | ASXL2 | c.4284C>A (p.Val1428=) c.4287C>A (p.Val1429=) c.4203C>A (p.Val1401=) c.2736C>A (p.Val912=) c.3921C>A (p.Val1307=) c.3507C>A (p.Val1169=) c.4113C>A (p.Val1371=) c.4467C>A (p.Val1489=) | |
2 | g.25742051A>C | CA346073479 | ASXL2 | c.4283T>G (p.Val1428Gly) c.4286T>G (p.Val1429Gly) c.4202T>G (p.Val1401Gly) c.2735T>G (p.Val912Gly) c.3920T>G (p.Val1307Gly) c.3506T>G (p.Val1169Gly) c.4112T>G (p.Val1371Gly) c.4466T>G (p.Val1489Gly) | |
2 | g.25742051A>G | CA346073480 | ASXL2 | c.4283T>C (p.Val1428Ala) c.4286T>C (p.Val1429Ala) c.4202T>C (p.Val1401Ala) c.2735T>C (p.Val912Ala) c.3920T>C (p.Val1307Ala) c.3506T>C (p.Val1169Ala) c.4112T>C (p.Val1371Ala) c.4466T>C (p.Val1489Ala) | |
2 | g.25742051A>T | CA346073481 | ASXL2 | c.4283T>A (p.Val1428Asp) c.4286T>A (p.Val1429Asp) c.4202T>A (p.Val1401Asp) c.2735T>A (p.Val912Asp) c.3920T>A (p.Val1307Asp) c.3506T>A (p.Val1169Asp) c.4112T>A (p.Val1371Asp) c.4466T>A (p.Val1489Asp) | |
2 | g.25742052C>A | CA346073483 | ASXL2 | c.4282G>T (p.Val1428Phe) c.4285G>T (p.Val1429Phe) c.4201G>T (p.Val1401Phe) c.2734G>T (p.Val912Phe) c.3919G>T (p.Val1307Phe) c.3505G>T (p.Val1169Phe) c.4111G>T (p.Val1371Phe) c.4465G>T (p.Val1489Phe) | |
2 | g.25742052C= | CA1239490309 | ASXL2 | c.4282G= (p.Val1428=) c.4285G= (p.Val1429=) c.4201G= (p.Val1401=) c.2734G= (p.Val912=) c.3919G= (p.Val1307=) c.3505G= (p.Val1169=) c.4111G= (p.Val1371=) c.4465G= (p.Val1489=) | |
2 | g.25742052C>G | CA346073482 | ASXL2 | c.4282G>C (p.Val1428Leu) c.4285G>C (p.Val1429Leu) c.4201G>C (p.Val1401Leu) c.2734G>C (p.Val912Leu) c.3919G>C (p.Val1307Leu) c.3505G>C (p.Val1169Leu) c.4111G>C (p.Val1371Leu) c.4465G>C (p.Val1489Leu) | |
2 | g.25742052C>T | CA1557321 | ASXL2 | c.4282G>A (p.Val1428Ile) c.4285G>A (p.Val1429Ile) c.4201G>A (p.Val1401Ile) c.2734G>A (p.Val912Ile) c.3919G>A (p.Val1307Ile) c.3505G>A (p.Val1169Ile) c.4111G>A (p.Val1371Ile) c.4465G>A (p.Val1489Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25742053G>A | CA1557322 | ASXL2 | c.4281C>T (p.Cys1427=) c.4284C>T (p.Cys1428=) c.4200C>T (p.Cys1400=) c.2733C>T (p.Cys911=) c.3918C>T (p.Cys1306=) c.3504C>T (p.Cys1168=) c.4110C>T (p.Cys1370=) c.4464C>T (p.Cys1488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742053G>C | CA346073484 | ASXL2 | c.4281C>G (p.Cys1427Trp) c.4284C>G (p.Cys1428Trp) c.4200C>G (p.Cys1400Trp) c.2733C>G (p.Cys911Trp) c.3918C>G (p.Cys1306Trp) c.3504C>G (p.Cys1168Trp) c.4110C>G (p.Cys1370Trp) c.4464C>G (p.Cys1488Trp) | |
2 | g.25742053G= | CA1239490311 | ASXL2 | c.4281C= (p.Cys1427=) c.4284C= (p.Cys1428=) c.4200C= (p.Cys1400=) c.2733C= (p.Cys911=) c.3918C= (p.Cys1306=) c.3504C= (p.Cys1168=) c.4110C= (p.Cys1370=) c.4464C= (p.Cys1488=) | |
2 | g.25742053G>T | CA346073485 | ASXL2 | c.4281C>A (p.Cys1427Ter) c.4284C>A (p.Cys1428Ter) c.4200C>A (p.Cys1400Ter) c.2733C>A (p.Cys911Ter) c.3918C>A (p.Cys1306Ter) c.3504C>A (p.Cys1168Ter) c.4110C>A (p.Cys1370Ter) c.4464C>A (p.Cys1488Ter) | |
2 | g.25742053_25742055delinsGCA | CA1239490310 | ASXL2 | c.4279_4281delinsTGC (p.Cys1427=) c.4282_4284delinsTGC (p.Cys1428=) c.4198_4200delinsTGC (p.Cys1400=) c.2731_2733delinsTGC (p.Cys911=) c.3916_3918delinsTGC (p.Cys1306=) c.3502_3504delinsTGC (p.Cys1168=) c.4108_4110delinsTGC (p.Cys1370=) c.4462_4464delinsTGC (p.Cys1488=) | |
2 | g.25742054C>A | CA346073486 | ASXL2 | c.4280G>T (p.Cys1427Phe) c.4283G>T (p.Cys1428Phe) c.4199G>T (p.Cys1400Phe) c.2732G>T (p.Cys911Phe) c.3917G>T (p.Cys1306Phe) c.3503G>T (p.Cys1168Phe) c.4109G>T (p.Cys1370Phe) c.4463G>T (p.Cys1488Phe) | |
2 | g.25742054C>G | CA346073487 | ASXL2 | c.4280G>C (p.Cys1427Ser) c.4283G>C (p.Cys1428Ser) c.4199G>C (p.Cys1400Ser) c.2732G>C (p.Cys911Ser) c.3917G>C (p.Cys1306Ser) c.3503G>C (p.Cys1168Ser) c.4109G>C (p.Cys1370Ser) c.4463G>C (p.Cys1488Ser) | |
2 | g.25742054C>T | CA346073488 | ASXL2 | c.4280G>A (p.Cys1427Tyr) c.4283G>A (p.Cys1428Tyr) c.4199G>A (p.Cys1400Tyr) c.2732G>A (p.Cys911Tyr) c.3917G>A (p.Cys1306Tyr) c.3503G>A (p.Cys1168Tyr) c.4109G>A (p.Cys1370Tyr) c.4463G>A (p.Cys1488Tyr) | |
2 | g.25742056_25742057del | CA531761050 | ASXL2 | c.4279_4280del (p.Cys1427ArgfsTer17) c.4282_4283del (p.Cys1428ArgfsTer17) c.4198_4199del (p.Cys1400ArgfsTer17) c.2731_2732del (p.Cys911ArgfsTer17) c.3916_3917del (p.Cys1306ArgfsTer17) c.3502_3503del (p.Cys1168ArgfsTer17) c.4108_4109del (p.Cys1370ArgfsTer17) c.4462_4463del (p.Cys1488ArgfsTer17) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742055A>C | CA346073489 | ASXL2 | c.4279T>G (p.Cys1427Gly) c.4282T>G (p.Cys1428Gly) c.4198T>G (p.Cys1400Gly) c.2731T>G (p.Cys911Gly) c.3916T>G (p.Cys1306Gly) c.3502T>G (p.Cys1168Gly) c.4108T>G (p.Cys1370Gly) c.4462T>G (p.Cys1488Gly) | |
2 | g.25742055A>G | CA346073490 | ASXL2 | c.4279T>C (p.Cys1427Arg) c.4282T>C (p.Cys1428Arg) c.4198T>C (p.Cys1400Arg) c.2731T>C (p.Cys911Arg) c.3916T>C (p.Cys1306Arg) c.3502T>C (p.Cys1168Arg) c.4108T>C (p.Cys1370Arg) c.4462T>C (p.Cys1488Arg) | |
2 | g.25742055A>T | CA346073491 | ASXL2 | c.4279T>A (p.Cys1427Ser) c.4282T>A (p.Cys1428Ser) c.4198T>A (p.Cys1400Ser) c.2731T>A (p.Cys911Ser) c.3916T>A (p.Cys1306Ser) c.3502T>A (p.Cys1168Ser) c.4108T>A (p.Cys1370Ser) c.4462T>A (p.Cys1488Ser) | |
2 | g.25742056C>A | CA425181251 | ASXL2 | c.4278G>T (p.Leu1426=) c.4281G>T (p.Leu1427=) c.4197G>T (p.Leu1399=) c.2730G>T (p.Leu910=) c.3915G>T (p.Leu1305=) c.3501G>T (p.Leu1167=) c.4107G>T (p.Leu1369=) c.4461G>T (p.Leu1487=) | gnomAD v4 |
2 | g.25742056C= | CA1239490312 | ASXL2 | c.4278G= (p.Leu1426=) c.4281G= (p.Leu1427=) c.4197G= (p.Leu1399=) c.2730G= (p.Leu910=) c.3915G= (p.Leu1305=) c.3501G= (p.Leu1167=) c.4107G= (p.Leu1369=) c.4461G= (p.Leu1487=) | |
2 | g.25742056C>G | CA425181252 | ASXL2 | c.4278G>C (p.Leu1426=) c.4281G>C (p.Leu1427=) c.4197G>C (p.Leu1399=) c.2730G>C (p.Leu910=) c.3915G>C (p.Leu1305=) c.3501G>C (p.Leu1167=) c.4107G>C (p.Leu1369=) c.4461G>C (p.Leu1487=) | ClinVar dbSNP gnomAD v4 |
2 | g.25742056C>T | CA425181253 | ASXL2 | c.4278G>A (p.Leu1426=) c.4281G>A (p.Leu1427=) c.4197G>A (p.Leu1399=) c.2730G>A (p.Leu910=) c.3915G>A (p.Leu1305=) c.3501G>A (p.Leu1167=) c.4107G>A (p.Leu1369=) c.4461G>A (p.Leu1487=) | |
2 | g.25742057A= | CA1239490313 | ASXL2 | c.4277T= (p.Leu1426=) c.4280T= (p.Leu1427=) c.4196T= (p.Leu1399=) c.2729T= (p.Leu910=) c.3914T= (p.Leu1305=) c.3500T= (p.Leu1167=) c.4106T= (p.Leu1369=) c.4460T= (p.Leu1487=) | |
2 | g.25742057A>C | CA346073492 | ASXL2 | c.4277T>G (p.Leu1426Arg) c.4280T>G (p.Leu1427Arg) c.4196T>G (p.Leu1399Arg) c.2729T>G (p.Leu910Arg) c.3914T>G (p.Leu1305Arg) c.3500T>G (p.Leu1167Arg) c.4106T>G (p.Leu1369Arg) c.4460T>G (p.Leu1487Arg) | |
2 | g.25742057A>G | CA346073493 | ASXL2 | c.4277T>C (p.Leu1426Pro) c.4280T>C (p.Leu1427Pro) c.4196T>C (p.Leu1399Pro) c.2729T>C (p.Leu910Pro) c.3914T>C (p.Leu1305Pro) c.3500T>C (p.Leu1167Pro) c.4106T>C (p.Leu1369Pro) c.4460T>C (p.Leu1487Pro) | dbSNP |
2 | g.25742057A>T | CA346073494 | ASXL2 | c.4277T>A (p.Leu1426Gln) c.4280T>A (p.Leu1427Gln) c.4196T>A (p.Leu1399Gln) c.2729T>A (p.Leu910Gln) c.3914T>A (p.Leu1305Gln) c.3500T>A (p.Leu1167Gln) c.4106T>A (p.Leu1369Gln) c.4460T>A (p.Leu1487Gln) | |
2 | g.25742058G>A | CA1557323 | ASXL2 | c.4276C>T (p.Leu1426=) c.4279C>T (p.Leu1427=) c.4195C>T (p.Leu1399=) c.2728C>T (p.Leu910=) c.3913C>T (p.Leu1305=) c.3499C>T (p.Leu1167=) c.4105C>T (p.Leu1369=) c.4459C>T (p.Leu1487=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742058G>C | CA346073496 | ASXL2 | c.4276C>G (p.Leu1426Val) c.4279C>G (p.Leu1427Val) c.4195C>G (p.Leu1399Val) c.2728C>G (p.Leu910Val) c.3913C>G (p.Leu1305Val) c.3499C>G (p.Leu1167Val) c.4105C>G (p.Leu1369Val) c.4459C>G (p.Leu1487Val) | |
2 | g.25742058G= | CA1239490314 | ASXL2 | c.4276C= (p.Leu1426=) c.4279C= (p.Leu1427=) c.4195C= (p.Leu1399=) c.2728C= (p.Leu910=) c.3913C= (p.Leu1305=) c.3499C= (p.Leu1167=) c.4105C= (p.Leu1369=) c.4459C= (p.Leu1487=) | |
2 | g.25742058G>T | CA346073495 | ASXL2 | c.4276C>A (p.Leu1426Met) c.4279C>A (p.Leu1427Met) c.4195C>A (p.Leu1399Met) c.2728C>A (p.Leu910Met) c.3913C>A (p.Leu1305Met) c.3499C>A (p.Leu1167Met) c.4105C>A (p.Leu1369Met) c.4459C>A (p.Leu1487Met) | |
2 | g.25742059T>A | CA346073498 | ASXL2 | c.4275A>T (p.Lys1425Asn) c.4278A>T (p.Lys1426Asn) c.4194A>T (p.Lys1398Asn) c.2727A>T (p.Lys909Asn) c.3912A>T (p.Lys1304Asn) c.3498A>T (p.Lys1166Asn) c.4104A>T (p.Lys1368Asn) c.4458A>T (p.Lys1486Asn) | |
2 | g.25742059T>C | CA425181254 | ASXL2 | c.4275A>G (p.Lys1425=) c.4278A>G (p.Lys1426=) c.4194A>G (p.Lys1398=) c.2727A>G (p.Lys909=) c.3912A>G (p.Lys1304=) c.3498A>G (p.Lys1166=) c.4104A>G (p.Lys1368=) c.4458A>G (p.Lys1486=) | |
2 | g.25742059T>G | CA346073497 | ASXL2 | c.4275A>C (p.Lys1425Asn) c.4278A>C (p.Lys1426Asn) c.4194A>C (p.Lys1398Asn) c.2727A>C (p.Lys909Asn) c.3912A>C (p.Lys1304Asn) c.3498A>C (p.Lys1166Asn) c.4104A>C (p.Lys1368Asn) c.4458A>C (p.Lys1486Asn) | |
2 | g.25742060T>A | CA346073499 | ASXL2 | c.4274A>T (p.Lys1425Ile) c.4277A>T (p.Lys1426Ile) c.4193A>T (p.Lys1398Ile) c.2726A>T (p.Lys909Ile) c.3911A>T (p.Lys1304Ile) c.3497A>T (p.Lys1166Ile) c.4103A>T (p.Lys1368Ile) c.4457A>T (p.Lys1486Ile) | |
2 | g.25742060T>C | CA346073500 | ASXL2 | c.4274A>G (p.Lys1425Arg) c.4277A>G (p.Lys1426Arg) c.4193A>G (p.Lys1398Arg) c.2726A>G (p.Lys909Arg) c.3911A>G (p.Lys1304Arg) c.3497A>G (p.Lys1166Arg) c.4103A>G (p.Lys1368Arg) c.4457A>G (p.Lys1486Arg) | gnomAD v4 |
2 | g.25742060T>G | CA346073501 | ASXL2 | c.4274A>C (p.Lys1425Thr) c.4277A>C (p.Lys1426Thr) c.4193A>C (p.Lys1398Thr) c.2726A>C (p.Lys909Thr) c.3911A>C (p.Lys1304Thr) c.3497A>C (p.Lys1166Thr) c.4103A>C (p.Lys1368Thr) c.4457A>C (p.Lys1486Thr) | |
2 | g.25742061T>A | CA346073502 | ASXL2 | c.4273A>T (p.Lys1425Ter) c.4276A>T (p.Lys1426Ter) c.4192A>T (p.Lys1398Ter) c.2725A>T (p.Lys909Ter) c.3910A>T (p.Lys1304Ter) c.3496A>T (p.Lys1166Ter) c.4102A>T (p.Lys1368Ter) c.4456A>T (p.Lys1486Ter) | |
2 | g.25742061T>C | CA346073503 | ASXL2 | c.4273A>G (p.Lys1425Glu) c.4276A>G (p.Lys1426Glu) c.4192A>G (p.Lys1398Glu) c.2725A>G (p.Lys909Glu) c.3910A>G (p.Lys1304Glu) c.3496A>G (p.Lys1166Glu) c.4102A>G (p.Lys1368Glu) c.4456A>G (p.Lys1486Glu) | |
2 | g.25742061T>G | CA346073504 | ASXL2 | c.4273A>C (p.Lys1425Gln) c.4276A>C (p.Lys1426Gln) c.4192A>C (p.Lys1398Gln) c.2725A>C (p.Lys909Gln) c.3910A>C (p.Lys1304Gln) c.3496A>C (p.Lys1166Gln) c.4102A>C (p.Lys1368Gln) c.4456A>C (p.Lys1486Gln) | |
2 | g.25742062G>A | CA425181255 | ASXL2 | c.4272C>T (p.Ser1424=) c.4275C>T (p.Ser1425=) c.4191C>T (p.Ser1397=) c.2724C>T (p.Ser908=) c.3909C>T (p.Ser1303=) c.3495C>T (p.Ser1165=) c.4101C>T (p.Ser1367=) c.4455C>T (p.Ser1485=) | |
2 | g.25742062G>C | CA425181256 | ASXL2 | c.4272C>G (p.Ser1424=) c.4275C>G (p.Ser1425=) c.4191C>G (p.Ser1397=) c.2724C>G (p.Ser908=) c.3909C>G (p.Ser1303=) c.3495C>G (p.Ser1165=) c.4101C>G (p.Ser1367=) c.4455C>G (p.Ser1485=) | |
2 | g.25742062G>T | CA425181257 | ASXL2 | c.4272C>A (p.Ser1424=) c.4275C>A (p.Ser1425=) c.4191C>A (p.Ser1397=) c.2724C>A (p.Ser908=) c.3909C>A (p.Ser1303=) c.3495C>A (p.Ser1165=) c.4101C>A (p.Ser1367=) c.4455C>A (p.Ser1485=) | |
2 | g.25742063G>A | CA346073505 | ASXL2 | c.4271C>T (p.Ser1424Phe) c.4274C>T (p.Ser1425Phe) c.4190C>T (p.Ser1397Phe) c.2723C>T (p.Ser908Phe) c.3908C>T (p.Ser1303Phe) c.3494C>T (p.Ser1165Phe) c.4100C>T (p.Ser1367Phe) c.4454C>T (p.Ser1485Phe) | COSMIC COSMIC |
2 | g.25742063G>C | CA346073506 | ASXL2 | c.4271C>G (p.Ser1424Cys) c.4274C>G (p.Ser1425Cys) c.4190C>G (p.Ser1397Cys) c.2723C>G (p.Ser908Cys) c.3908C>G (p.Ser1303Cys) c.3494C>G (p.Ser1165Cys) c.4100C>G (p.Ser1367Cys) c.4454C>G (p.Ser1485Cys) | |
2 | g.25742063G>T | CA346073507 | ASXL2 | c.4271C>A (p.Ser1424Tyr) c.4274C>A (p.Ser1425Tyr) c.4190C>A (p.Ser1397Tyr) c.2723C>A (p.Ser908Tyr) c.3908C>A (p.Ser1303Tyr) c.3494C>A (p.Ser1165Tyr) c.4100C>A (p.Ser1367Tyr) c.4454C>A (p.Ser1485Tyr) | |
2 | g.25742064A= | CA1239490315 | ASXL2 | c.4270T= (p.Ser1424=) c.4273T= (p.Ser1425=) c.4189T= (p.Ser1397=) c.2722T= (p.Ser908=) c.3907T= (p.Ser1303=) c.3493T= (p.Ser1165=) c.4099T= (p.Ser1367=) c.4453T= (p.Ser1485=) | |
2 | g.25742064A>C | CA346073508 | ASXL2 | c.4270T>G (p.Ser1424Ala) c.4273T>G (p.Ser1425Ala) c.4189T>G (p.Ser1397Ala) c.2722T>G (p.Ser908Ala) c.3907T>G (p.Ser1303Ala) c.3493T>G (p.Ser1165Ala) c.4099T>G (p.Ser1367Ala) c.4453T>G (p.Ser1485Ala) | |
2 | g.25742064A>G | CA346073509 | ASXL2 | c.4270T>C (p.Ser1424Pro) c.4273T>C (p.Ser1425Pro) c.4189T>C (p.Ser1397Pro) c.2722T>C (p.Ser908Pro) c.3907T>C (p.Ser1303Pro) c.3493T>C (p.Ser1165Pro) c.4099T>C (p.Ser1367Pro) c.4453T>C (p.Ser1485Pro) | |
2 | g.25742064A>T | CA346073510 | ASXL2 | c.4270T>A (p.Ser1424Thr) c.4273T>A (p.Ser1425Thr) c.4189T>A (p.Ser1397Thr) c.2722T>A (p.Ser908Thr) c.3907T>A (p.Ser1303Thr) c.3493T>A (p.Ser1165Thr) c.4099T>A (p.Ser1367Thr) c.4453T>A (p.Ser1485Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742065G>A | CA425181258 | ASXL2 | c.4269C>T (p.Pro1423=) c.4272C>T (p.Pro1424=) c.4188C>T (p.Pro1396=) c.2721C>T (p.Pro907=) c.3906C>T (p.Pro1302=) c.3492C>T (p.Pro1164=) c.4098C>T (p.Pro1366=) c.4452C>T (p.Pro1484=) | gnomAD v4 |
2 | g.25742065G>C | CA425181259 | ASXL2 | c.4269C>G (p.Pro1423=) c.4272C>G (p.Pro1424=) c.4188C>G (p.Pro1396=) c.2721C>G (p.Pro907=) c.3906C>G (p.Pro1302=) c.3492C>G (p.Pro1164=) c.4098C>G (p.Pro1366=) c.4452C>G (p.Pro1484=) | |
2 | g.25742065G>T | CA425181260 | ASXL2 | c.4269C>A (p.Pro1423=) c.4272C>A (p.Pro1424=) c.4188C>A (p.Pro1396=) c.2721C>A (p.Pro907=) c.3906C>A (p.Pro1302=) c.3492C>A (p.Pro1164=) c.4098C>A (p.Pro1366=) c.4452C>A (p.Pro1484=) | |
2 | g.25742066G>A | CA346073511 | ASXL2 | c.4268C>T (p.Pro1423Leu) c.4271C>T (p.Pro1424Leu) c.4187C>T (p.Pro1396Leu) c.2720C>T (p.Pro907Leu) c.3905C>T (p.Pro1302Leu) c.3491C>T (p.Pro1164Leu) c.4097C>T (p.Pro1366Leu) c.4451C>T (p.Pro1484Leu) | |
2 | g.25742066G>C | CA346073513 | ASXL2 | c.4268C>G (p.Pro1423Arg) c.4271C>G (p.Pro1424Arg) c.4187C>G (p.Pro1396Arg) c.2720C>G (p.Pro907Arg) c.3905C>G (p.Pro1302Arg) c.3491C>G (p.Pro1164Arg) c.4097C>G (p.Pro1366Arg) c.4451C>G (p.Pro1484Arg) | |
2 | g.25742066G>T | CA346073512 | ASXL2 | c.4268C>A (p.Pro1423His) c.4271C>A (p.Pro1424His) c.4187C>A (p.Pro1396His) c.2720C>A (p.Pro907His) c.3905C>A (p.Pro1302His) c.3491C>A (p.Pro1164His) c.4097C>A (p.Pro1366His) c.4451C>A (p.Pro1484His) | |
2 | g.25742067G>A | CA346073514 | ASXL2 | c.4267C>T (p.Pro1423Ser) c.4270C>T (p.Pro1424Ser) c.4186C>T (p.Pro1396Ser) c.2719C>T (p.Pro907Ser) c.3904C>T (p.Pro1302Ser) c.3490C>T (p.Pro1164Ser) c.4096C>T (p.Pro1366Ser) c.4450C>T (p.Pro1484Ser) | |
2 | g.25742067G>C | CA346073515 | ASXL2 | c.4267C>G (p.Pro1423Ala) c.4270C>G (p.Pro1424Ala) c.4186C>G (p.Pro1396Ala) c.2719C>G (p.Pro907Ala) c.3904C>G (p.Pro1302Ala) c.3490C>G (p.Pro1164Ala) c.4096C>G (p.Pro1366Ala) c.4450C>G (p.Pro1484Ala) | |
2 | g.25742067G>T | CA346073516 | ASXL2 | c.4267C>A (p.Pro1423Thr) c.4270C>A (p.Pro1424Thr) c.4186C>A (p.Pro1396Thr) c.2719C>A (p.Pro907Thr) c.3904C>A (p.Pro1302Thr) c.3490C>A (p.Pro1164Thr) c.4096C>A (p.Pro1366Thr) c.4450C>A (p.Pro1484Thr) | |
2 | g.25742067_25742068delinsAA | CA645532782 | ASXL2 | c.4266_4267delinsTT (p.Pro1423Ser) c.4269_4270delinsTT (p.Pro1424Ser) c.4185_4186delinsTT (p.Pro1396Ser) c.2718_2719delinsTT (p.Pro907Ser) c.3903_3904delinsTT (p.Pro1302Ser) c.3489_3490delinsTT (p.Pro1164Ser) c.4095_4096delinsTT (p.Pro1366Ser) c.4449_4450delinsTT (p.Pro1484Ser) | COSMIC COSMIC |
2 | g.25742068G>A | CA425181263 | ASXL2 | c.4266C>T (p.Gly1422=) c.4269C>T (p.Gly1423=) c.4185C>T (p.Gly1395=) c.2718C>T (p.Gly906=) c.3903C>T (p.Gly1301=) c.3489C>T (p.Gly1163=) c.4095C>T (p.Gly1365=) c.4449C>T (p.Gly1483=) | |
2 | g.25742068G>C | CA425181261 | ASXL2 | c.4266C>G (p.Gly1422=) c.4269C>G (p.Gly1423=) c.4185C>G (p.Gly1395=) c.2718C>G (p.Gly906=) c.3903C>G (p.Gly1301=) c.3489C>G (p.Gly1163=) c.4095C>G (p.Gly1365=) c.4449C>G (p.Gly1483=) | |
2 | g.25742068G>T | CA425181262 | ASXL2 | c.4266C>A (p.Gly1422=) c.4269C>A (p.Gly1423=) c.4185C>A (p.Gly1395=) c.2718C>A (p.Gly906=) c.3903C>A (p.Gly1301=) c.3489C>A (p.Gly1163=) c.4095C>A (p.Gly1365=) c.4449C>A (p.Gly1483=) | |
2 | g.25742069C>A | CA346073517 | ASXL2 | c.4265G>T (p.Gly1422Val) c.4268G>T (p.Gly1423Val) c.4184G>T (p.Gly1395Val) c.2717G>T (p.Gly906Val) c.3902G>T (p.Gly1301Val) c.3488G>T (p.Gly1163Val) c.4094G>T (p.Gly1365Val) c.4448G>T (p.Gly1483Val) | |
2 | g.25742069C>G | CA346073518 | ASXL2 | c.4265G>C (p.Gly1422Ala) c.4268G>C (p.Gly1423Ala) c.4184G>C (p.Gly1395Ala) c.2717G>C (p.Gly906Ala) c.3902G>C (p.Gly1301Ala) c.3488G>C (p.Gly1163Ala) c.4094G>C (p.Gly1365Ala) c.4448G>C (p.Gly1483Ala) | |
2 | g.25742069C>T | CA346073519 | ASXL2 | c.4265G>A (p.Gly1422Asp) c.4268G>A (p.Gly1423Asp) c.4184G>A (p.Gly1395Asp) c.2717G>A (p.Gly906Asp) c.3902G>A (p.Gly1301Asp) c.3488G>A (p.Gly1163Asp) c.4094G>A (p.Gly1365Asp) c.4448G>A (p.Gly1483Asp) | |
2 | g.25742070C>A | CA346073520 | ASXL2 | c.4264G>T (p.Gly1422Cys) c.4267G>T (p.Gly1423Cys) c.4183G>T (p.Gly1395Cys) c.2716G>T (p.Gly906Cys) c.3901G>T (p.Gly1301Cys) c.3487G>T (p.Gly1163Cys) c.4093G>T (p.Gly1365Cys) c.4447G>T (p.Gly1483Cys) | |
2 | g.25742070C= | CA1239490316 | ASXL2 | c.4264G= (p.Gly1422=) c.4267G= (p.Gly1423=) c.4183G= (p.Gly1395=) c.2716G= (p.Gly906=) c.3901G= (p.Gly1301=) c.3487G= (p.Gly1163=) c.4093G= (p.Gly1365=) c.4447G= (p.Gly1483=) | |
2 | g.25742070C>G | CA346073521 | ASXL2 | c.4264G>C (p.Gly1422Arg) c.4267G>C (p.Gly1423Arg) c.4183G>C (p.Gly1395Arg) c.2716G>C (p.Gly906Arg) c.3901G>C (p.Gly1301Arg) c.3487G>C (p.Gly1163Arg) c.4093G>C (p.Gly1365Arg) c.4447G>C (p.Gly1483Arg) | |
2 | g.25742070C>T | CA1557324 | ASXL2 | c.4264G>A (p.Gly1422Ser) c.4267G>A (p.Gly1423Ser) c.4183G>A (p.Gly1395Ser) c.2716G>A (p.Gly906Ser) c.3901G>A (p.Gly1301Ser) c.3487G>A (p.Gly1163Ser) c.4093G>A (p.Gly1365Ser) c.4447G>A (p.Gly1483Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25742071G>A | CA1557325 | ASXL2 | c.4263C>T (p.Ile1421=) c.4266C>T (p.Ile1422=) c.4182C>T (p.Ile1394=) c.2715C>T (p.Ile905=) c.3900C>T (p.Ile1300=) c.3486C>T (p.Ile1162=) c.4092C>T (p.Ile1364=) c.4446C>T (p.Ile1482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742071G>C | CA346073522 | ASXL2 | c.4263C>G (p.Ile1421Met) c.4266C>G (p.Ile1422Met) c.4182C>G (p.Ile1394Met) c.2715C>G (p.Ile905Met) c.3900C>G (p.Ile1300Met) c.3486C>G (p.Ile1162Met) c.4092C>G (p.Ile1364Met) c.4446C>G (p.Ile1482Met) | |
2 | g.25742071G= | CA1239490317 | ASXL2 | c.4263C= (p.Ile1421=) c.4266C= (p.Ile1422=) c.4182C= (p.Ile1394=) c.2715C= (p.Ile905=) c.3900C= (p.Ile1300=) c.3486C= (p.Ile1162=) c.4092C= (p.Ile1364=) c.4446C= (p.Ile1482=) | |
2 | g.25742071G>T | CA425181264 | ASXL2 | c.4263C>A (p.Ile1421=) c.4266C>A (p.Ile1422=) c.4182C>A (p.Ile1394=) c.2715C>A (p.Ile905=) c.3900C>A (p.Ile1300=) c.3486C>A (p.Ile1162=) c.4092C>A (p.Ile1364=) c.4446C>A (p.Ile1482=) | |
2 | g.25742072A>C | CA346073524 | ASXL2 | c.4262T>G (p.Ile1421Ser) c.4265T>G (p.Ile1422Ser) c.4181T>G (p.Ile1394Ser) c.2714T>G (p.Ile905Ser) c.3899T>G (p.Ile1300Ser) c.3485T>G (p.Ile1162Ser) c.4091T>G (p.Ile1364Ser) c.4445T>G (p.Ile1482Ser) | gnomAD v4 |
2 | g.25742072A>G | CA346073525 | ASXL2 | c.4262T>C (p.Ile1421Thr) c.4265T>C (p.Ile1422Thr) c.4181T>C (p.Ile1394Thr) c.2714T>C (p.Ile905Thr) c.3899T>C (p.Ile1300Thr) c.3485T>C (p.Ile1162Thr) c.4091T>C (p.Ile1364Thr) c.4445T>C (p.Ile1482Thr) | |
2 | g.25742072A>T | CA346073523 | ASXL2 | c.4262T>A (p.Ile1421Asn) c.4265T>A (p.Ile1422Asn) c.4181T>A (p.Ile1394Asn) c.2714T>A (p.Ile905Asn) c.3899T>A (p.Ile1300Asn) c.3485T>A (p.Ile1162Asn) c.4091T>A (p.Ile1364Asn) c.4445T>A (p.Ile1482Asn) | |
2 | g.25742073T>A | CA346073526 | ASXL2 | c.4261A>T (p.Ile1421Phe) c.4264A>T (p.Ile1422Phe) c.4180A>T (p.Ile1394Phe) c.2713A>T (p.Ile905Phe) c.3898A>T (p.Ile1300Phe) c.3484A>T (p.Ile1162Phe) c.4090A>T (p.Ile1364Phe) c.4444A>T (p.Ile1482Phe) | |
2 | g.25742073T>C | CA346073527 | ASXL2 | c.4261A>G (p.Ile1421Val) c.4264A>G (p.Ile1422Val) c.4180A>G (p.Ile1394Val) c.2713A>G (p.Ile905Val) c.3898A>G (p.Ile1300Val) c.3484A>G (p.Ile1162Val) c.4090A>G (p.Ile1364Val) c.4444A>G (p.Ile1482Val) | gnomAD v4 |
2 | g.25742073T>G | CA346073528 | ASXL2 | c.4261A>C (p.Ile1421Leu) c.4264A>C (p.Ile1422Leu) c.4180A>C (p.Ile1394Leu) c.2713A>C (p.Ile905Leu) c.3898A>C (p.Ile1300Leu) c.3484A>C (p.Ile1162Leu) c.4090A>C (p.Ile1364Leu) c.4444A>C (p.Ile1482Leu) | |
2 | g.25742074G>A | CA425181265 | ASXL2 | c.4260C>T (p.Cys1420=) c.4263C>T (p.Cys1421=) c.4179C>T (p.Cys1393=) c.2712C>T (p.Cys904=) c.3897C>T (p.Cys1299=) c.3483C>T (p.Cys1161=) c.4089C>T (p.Cys1363=) c.4443C>T (p.Cys1481=) | |
2 | g.25742074G>C | CA346073529 | ASXL2 | c.4260C>G (p.Cys1420Trp) c.4263C>G (p.Cys1421Trp) c.4179C>G (p.Cys1393Trp) c.2712C>G (p.Cys904Trp) c.3897C>G (p.Cys1299Trp) c.3483C>G (p.Cys1161Trp) c.4089C>G (p.Cys1363Trp) c.4443C>G (p.Cys1481Trp) | |
2 | g.25742074G>T | CA346073530 | ASXL2 | c.4260C>A (p.Cys1420Ter) c.4263C>A (p.Cys1421Ter) c.4179C>A (p.Cys1393Ter) c.2712C>A (p.Cys904Ter) c.3897C>A (p.Cys1299Ter) c.3483C>A (p.Cys1161Ter) c.4089C>A (p.Cys1363Ter) c.4443C>A (p.Cys1481Ter) | |
2 | g.25742075C>A | CA346073531 | ASXL2 | c.4259G>T (p.Cys1420Phe) c.4262G>T (p.Cys1421Phe) c.4178G>T (p.Cys1393Phe) c.2711G>T (p.Cys904Phe) c.3896G>T (p.Cys1299Phe) c.3482G>T (p.Cys1161Phe) c.4088G>T (p.Cys1363Phe) c.4442G>T (p.Cys1481Phe) | |
2 | g.25742075C>G | CA346073532 | ASXL2 | c.4259G>C (p.Cys1420Ser) c.4262G>C (p.Cys1421Ser) c.4178G>C (p.Cys1393Ser) c.2711G>C (p.Cys904Ser) c.3896G>C (p.Cys1299Ser) c.3482G>C (p.Cys1161Ser) c.4088G>C (p.Cys1363Ser) c.4442G>C (p.Cys1481Ser) | ClinVar |
2 | g.25742075C>T | CA346073533 | ASXL2 | c.4259G>A (p.Cys1420Tyr) c.4262G>A (p.Cys1421Tyr) c.4178G>A (p.Cys1393Tyr) c.2711G>A (p.Cys904Tyr) c.3896G>A (p.Cys1299Tyr) c.3482G>A (p.Cys1161Tyr) c.4088G>A (p.Cys1363Tyr) c.4442G>A (p.Cys1481Tyr) | |
2 | g.25742076A>C | CA346073534 | ASXL2 | c.4258T>G (p.Cys1420Gly) c.4261T>G (p.Cys1421Gly) c.4177T>G (p.Cys1393Gly) c.2710T>G (p.Cys904Gly) c.3895T>G (p.Cys1299Gly) c.3481T>G (p.Cys1161Gly) c.4087T>G (p.Cys1363Gly) c.4441T>G (p.Cys1481Gly) | |
2 | g.25742076A>G | CA346073535 | ASXL2 | c.4258T>C (p.Cys1420Arg) c.4261T>C (p.Cys1421Arg) c.4177T>C (p.Cys1393Arg) c.2710T>C (p.Cys904Arg) c.3895T>C (p.Cys1299Arg) c.3481T>C (p.Cys1161Arg) c.4087T>C (p.Cys1363Arg) c.4441T>C (p.Cys1481Arg) | |
2 | g.25742076A>T | CA346073536 | ASXL2 | c.4258T>A (p.Cys1420Ser) c.4261T>A (p.Cys1421Ser) c.4177T>A (p.Cys1393Ser) c.2710T>A (p.Cys904Ser) c.3895T>A (p.Cys1299Ser) c.3481T>A (p.Cys1161Ser) c.4087T>A (p.Cys1363Ser) c.4441T>A (p.Cys1481Ser) | |
2 | g.25742077A>C | CA346073537 | ASXL2 | c.4257T>G (p.Asp1419Glu) c.4260T>G (p.Asp1420Glu) c.4176T>G (p.Asp1392Glu) c.2709T>G (p.Asp903Glu) c.3894T>G (p.Asp1298Glu) c.3480T>G (p.Asp1160Glu) c.4086T>G (p.Asp1362Glu) c.4440T>G (p.Asp1480Glu) | |
2 | g.25742077A>G | CA425181266 | ASXL2 | c.4257T>C (p.Asp1419=) c.4260T>C (p.Asp1420=) c.4176T>C (p.Asp1392=) c.2709T>C (p.Asp903=) c.3894T>C (p.Asp1298=) c.3480T>C (p.Asp1160=) c.4086T>C (p.Asp1362=) c.4440T>C (p.Asp1480=) | |
2 | g.25742077A>T | CA346073538 | ASXL2 | c.4257T>A (p.Asp1419Glu) c.4260T>A (p.Asp1420Glu) c.4176T>A (p.Asp1392Glu) c.2709T>A (p.Asp903Glu) c.3894T>A (p.Asp1298Glu) c.3480T>A (p.Asp1160Glu) c.4086T>A (p.Asp1362Glu) c.4440T>A (p.Asp1480Glu) | |
2 | g.25742082_25742084del | CA2658189292 | ASXL2 | c.4255_4257del (p.Asp1419del) c.4258_4260del (p.Asp1420del) c.4174_4176del (p.Asp1392del) c.2707_2709del (p.Asp903del) c.3892_3894del (p.Asp1298del) c.3478_3480del (p.Asp1160del) c.4084_4086del (p.Asp1362del) c.4438_4440del (p.Asp1480del) | gnomAD v4 |
2 | g.25742078T>A | CA346073540 | ASXL2 | c.4256A>T (p.Asp1419Val) c.4259A>T (p.Asp1420Val) c.4175A>T (p.Asp1392Val) c.2708A>T (p.Asp903Val) c.3893A>T (p.Asp1298Val) c.3479A>T (p.Asp1160Val) c.4085A>T (p.Asp1362Val) c.4439A>T (p.Asp1480Val) | |
2 | g.25742078T>C | CA346073541 | ASXL2 | c.4256A>G (p.Asp1419Gly) c.4259A>G (p.Asp1420Gly) c.4175A>G (p.Asp1392Gly) c.2708A>G (p.Asp903Gly) c.3893A>G (p.Asp1298Gly) c.3479A>G (p.Asp1160Gly) c.4085A>G (p.Asp1362Gly) c.4439A>G (p.Asp1480Gly) | ClinVar gnomAD v4 |
2 | g.25742078T>G | CA346073539 | ASXL2 | c.4256A>C (p.Asp1419Ala) c.4259A>C (p.Asp1420Ala) c.4175A>C (p.Asp1392Ala) c.2708A>C (p.Asp903Ala) c.3893A>C (p.Asp1298Ala) c.3479A>C (p.Asp1160Ala) c.4085A>C (p.Asp1362Ala) c.4439A>C (p.Asp1480Ala) | |
2 | g.25742079C>A | CA346073542 | ASXL2 | c.4255G>T (p.Asp1419Tyr) c.4258G>T (p.Asp1420Tyr) c.4174G>T (p.Asp1392Tyr) c.2707G>T (p.Asp903Tyr) c.3892G>T (p.Asp1298Tyr) c.3478G>T (p.Asp1160Tyr) c.4084G>T (p.Asp1362Tyr) c.4438G>T (p.Asp1480Tyr) | |
2 | g.25742079C>G | CA346073543 | ASXL2 | c.4255G>C (p.Asp1419His) c.4258G>C (p.Asp1420His) c.4174G>C (p.Asp1392His) c.2707G>C (p.Asp903His) c.3892G>C (p.Asp1298His) c.3478G>C (p.Asp1160His) c.4084G>C (p.Asp1362His) c.4438G>C (p.Asp1480His) | |
2 | g.25742079C>T | CA346073544 | ASXL2 | c.4255G>A (p.Asp1419Asn) c.4258G>A (p.Asp1420Asn) c.4174G>A (p.Asp1392Asn) c.2707G>A (p.Asp903Asn) c.3892G>A (p.Asp1298Asn) c.3478G>A (p.Asp1160Asn) c.4084G>A (p.Asp1362Asn) c.4438G>A (p.Asp1480Asn) | |
2 | g.25742080A= | CA1239490318 | ASXL2 | c.4254T= (p.Asp1418=) c.4257T= (p.Asp1419=) c.4173T= (p.Asp1391=) c.2706T= (p.Asp902=) c.3891T= (p.Asp1297=) c.3477T= (p.Asp1159=) c.4083T= (p.Asp1361=) c.4437T= (p.Asp1479=) | |
2 | g.25742080A>C | CA346073545 | ASXL2 | c.4254T>G (p.Asp1418Glu) c.4257T>G (p.Asp1419Glu) c.4173T>G (p.Asp1391Glu) c.2706T>G (p.Asp902Glu) c.3891T>G (p.Asp1297Glu) c.3477T>G (p.Asp1159Glu) c.4083T>G (p.Asp1361Glu) c.4437T>G (p.Asp1479Glu) | |
2 | g.25742080A>G | CA425181267 | ASXL2 | c.4254T>C (p.Asp1418=) c.4257T>C (p.Asp1419=) c.4173T>C (p.Asp1391=) c.2706T>C (p.Asp902=) c.3891T>C (p.Asp1297=) c.3477T>C (p.Asp1159=) c.4083T>C (p.Asp1361=) c.4437T>C (p.Asp1479=) | ClinVar dbSNP |
2 | g.25742080A>T | CA346073546 | ASXL2 | c.4254T>A (p.Asp1418Glu) c.4257T>A (p.Asp1419Glu) c.4173T>A (p.Asp1391Glu) c.2706T>A (p.Asp902Glu) c.3891T>A (p.Asp1297Glu) c.3477T>A (p.Asp1159Glu) c.4083T>A (p.Asp1361Glu) c.4437T>A (p.Asp1479Glu) | |
2 | g.25742081T>A | CA346073549 | ASXL2 | c.4253A>T (p.Asp1418Val) c.4256A>T (p.Asp1419Val) c.4172A>T (p.Asp1391Val) c.2705A>T (p.Asp902Val) c.3890A>T (p.Asp1297Val) c.3476A>T (p.Asp1159Val) c.4082A>T (p.Asp1361Val) c.4436A>T (p.Asp1479Val) | |
2 | g.25742081T>C | CA346073548 | ASXL2 | c.4253A>G (p.Asp1418Gly) c.4256A>G (p.Asp1419Gly) c.4172A>G (p.Asp1391Gly) c.2705A>G (p.Asp902Gly) c.3890A>G (p.Asp1297Gly) c.3476A>G (p.Asp1159Gly) c.4082A>G (p.Asp1361Gly) c.4436A>G (p.Asp1479Gly) | gnomAD v4 |
2 | g.25742081T>G | CA346073547 | ASXL2 | c.4253A>C (p.Asp1418Ala) c.4256A>C (p.Asp1419Ala) c.4172A>C (p.Asp1391Ala) c.2705A>C (p.Asp902Ala) c.3890A>C (p.Asp1297Ala) c.3476A>C (p.Asp1159Ala) c.4082A>C (p.Asp1361Ala) c.4436A>C (p.Asp1479Ala) | |
2 | g.25742082C>A | CA346073550 | ASXL2 | c.4252G>T (p.Asp1418Tyr) c.4255G>T (p.Asp1419Tyr) c.4171G>T (p.Asp1391Tyr) c.2704G>T (p.Asp902Tyr) c.3889G>T (p.Asp1297Tyr) c.3475G>T (p.Asp1159Tyr) c.4081G>T (p.Asp1361Tyr) c.4435G>T (p.Asp1479Tyr) | |
2 | g.25742082C>G | CA346073551 | ASXL2 | c.4252G>C (p.Asp1418His) c.4255G>C (p.Asp1419His) c.4171G>C (p.Asp1391His) c.2704G>C (p.Asp902His) c.3889G>C (p.Asp1297His) c.3475G>C (p.Asp1159His) c.4081G>C (p.Asp1361His) c.4435G>C (p.Asp1479His) | |
2 | g.25742082C>T | CA346073552 | ASXL2 | c.4252G>A (p.Asp1418Asn) c.4255G>A (p.Asp1419Asn) c.4171G>A (p.Asp1391Asn) c.2704G>A (p.Asp902Asn) c.3889G>A (p.Asp1297Asn) c.3475G>A (p.Asp1159Asn) c.4081G>A (p.Asp1361Asn) c.4435G>A (p.Asp1479Asn) | |
2 | g.25742083A= | CA1239490319 | ASXL2 | c.4251T= (p.His1417=) c.4254T= (p.His1418=) c.4170T= (p.His1390=) c.2703T= (p.His901=) c.3888T= (p.His1296=) c.3474T= (p.His1158=) c.4080T= (p.His1360=) c.4434T= (p.His1478=) | |
2 | g.25742083A>C | CA346073553 | ASXL2 | c.4251T>G (p.His1417Gln) c.4254T>G (p.His1418Gln) c.4170T>G (p.His1390Gln) c.2703T>G (p.His901Gln) c.3888T>G (p.His1296Gln) c.3474T>G (p.His1158Gln) c.4080T>G (p.His1360Gln) c.4434T>G (p.His1478Gln) | |
2 | g.25742083A>G | CA43734131 | ASXL2 | c.4251T>C (p.His1417=) c.4254T>C (p.His1418=) c.4170T>C (p.His1390=) c.2703T>C (p.His901=) c.3888T>C (p.His1296=) c.3474T>C (p.His1158=) c.4080T>C (p.His1360=) c.4434T>C (p.His1478=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742083A>T | CA346073554 | ASXL2 | c.4251T>A (p.His1417Gln) c.4254T>A (p.His1418Gln) c.4170T>A (p.His1390Gln) c.2703T>A (p.His901Gln) c.3888T>A (p.His1296Gln) c.3474T>A (p.His1158Gln) c.4080T>A (p.His1360Gln) c.4434T>A (p.His1478Gln) | |
2 | g.25742084T>A | CA346073556 | ASXL2 | c.4250A>T (p.His1417Leu) c.4253A>T (p.His1418Leu) c.4169A>T (p.His1390Leu) c.2702A>T (p.His901Leu) c.3887A>T (p.His1296Leu) c.3473A>T (p.His1158Leu) c.4079A>T (p.His1360Leu) c.4433A>T (p.His1478Leu) | |
2 | g.25742084T>C | CA1557326 | ASXL2 | c.4250A>G (p.His1417Arg) c.4253A>G (p.His1418Arg) c.4169A>G (p.His1390Arg) c.2702A>G (p.His901Arg) c.3887A>G (p.His1296Arg) c.3473A>G (p.His1158Arg) c.4079A>G (p.His1360Arg) c.4433A>G (p.His1478Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742084T>G | CA346073555 | ASXL2 | c.4250A>C (p.His1417Pro) c.4253A>C (p.His1418Pro) c.4169A>C (p.His1390Pro) c.2702A>C (p.His901Pro) c.3887A>C (p.His1296Pro) c.3473A>C (p.His1158Pro) c.4079A>C (p.His1360Pro) c.4433A>C (p.His1478Pro) | |
2 | g.25742084T= | CA1239490320 | ASXL2 | c.4250A= (p.His1417=) c.4253A= (p.His1418=) c.4169A= (p.His1390=) c.2702A= (p.His901=) c.3887A= (p.His1296=) c.3473A= (p.His1158=) c.4079A= (p.His1360=) c.4433A= (p.His1478=) | |
2 | g.25742085G>A | CA346073557 | ASXL2 | c.4249C>T (p.His1417Tyr) c.4252C>T (p.His1418Tyr) c.4168C>T (p.His1390Tyr) c.2701C>T (p.His901Tyr) c.3886C>T (p.His1296Tyr) c.3472C>T (p.His1158Tyr) c.4078C>T (p.His1360Tyr) c.4432C>T (p.His1478Tyr) | |
2 | g.25742085G>C | CA346073559 | ASXL2 | c.4249C>G (p.His1417Asp) c.4252C>G (p.His1418Asp) c.4168C>G (p.His1390Asp) c.2701C>G (p.His901Asp) c.3886C>G (p.His1296Asp) c.3472C>G (p.His1158Asp) c.4078C>G (p.His1360Asp) c.4432C>G (p.His1478Asp) | |
2 | g.25742085G>T | CA346073558 | ASXL2 | c.4249C>A (p.His1417Asn) c.4252C>A (p.His1418Asn) c.4168C>A (p.His1390Asn) c.2701C>A (p.His901Asn) c.3886C>A (p.His1296Asn) c.3472C>A (p.His1158Asn) c.4078C>A (p.His1360Asn) c.4432C>A (p.His1478Asn) | |
2 | g.25742086G>A | CA425181270 | ASXL2 | c.4248C>T (p.Cys1416=) c.4251C>T (p.Cys1417=) c.4167C>T (p.Cys1389=) c.2700C>T (p.Cys900=) c.3885C>T (p.Cys1295=) c.3471C>T (p.Cys1157=) c.4077C>T (p.Cys1359=) c.4431C>T (p.Cys1477=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742086G>C | CA346073560 | ASXL2 | c.4248C>G (p.Cys1416Trp) c.4251C>G (p.Cys1417Trp) c.4167C>G (p.Cys1389Trp) c.2700C>G (p.Cys900Trp) c.3885C>G (p.Cys1295Trp) c.3471C>G (p.Cys1157Trp) c.4077C>G (p.Cys1359Trp) c.4431C>G (p.Cys1477Trp) | |
2 | g.25742086G= | CA1239490321 | ASXL2 | c.4248C= (p.Cys1416=) c.4251C= (p.Cys1417=) c.4167C= (p.Cys1389=) c.2700C= (p.Cys900=) c.3885C= (p.Cys1295=) c.3471C= (p.Cys1157=) c.4077C= (p.Cys1359=) c.4431C= (p.Cys1477=) | |
2 | g.25742086G>T | CA346073561 | ASXL2 | c.4248C>A (p.Cys1416Ter) c.4251C>A (p.Cys1417Ter) c.4167C>A (p.Cys1389Ter) c.2700C>A (p.Cys900Ter) c.3885C>A (p.Cys1295Ter) c.3471C>A (p.Cys1157Ter) c.4077C>A (p.Cys1359Ter) c.4431C>A (p.Cys1477Ter) | |
2 | g.25742087C>A | CA346073562 | ASXL2 | c.4247G>T (p.Cys1416Phe) c.4250G>T (p.Cys1417Phe) c.4166G>T (p.Cys1389Phe) c.2699G>T (p.Cys900Phe) c.3884G>T (p.Cys1295Phe) c.3470G>T (p.Cys1157Phe) c.4076G>T (p.Cys1359Phe) c.4430G>T (p.Cys1477Phe) | |
2 | g.25742087C>G | CA346073563 | ASXL2 | c.4247G>C (p.Cys1416Ser) c.4250G>C (p.Cys1417Ser) c.4166G>C (p.Cys1389Ser) c.2699G>C (p.Cys900Ser) c.3884G>C (p.Cys1295Ser) c.3470G>C (p.Cys1157Ser) c.4076G>C (p.Cys1359Ser) c.4430G>C (p.Cys1477Ser) | |
2 | g.25742087C>T | CA346073564 | ASXL2 | c.4247G>A (p.Cys1416Tyr) c.4250G>A (p.Cys1417Tyr) c.4166G>A (p.Cys1389Tyr) c.2699G>A (p.Cys900Tyr) c.3884G>A (p.Cys1295Tyr) c.3470G>A (p.Cys1157Tyr) c.4076G>A (p.Cys1359Tyr) c.4430G>A (p.Cys1477Tyr) | |
2 | g.25742088A>C | CA346073565 | ASXL2 | c.4246T>G (p.Cys1416Gly) c.4249T>G (p.Cys1417Gly) c.4165T>G (p.Cys1389Gly) c.2698T>G (p.Cys900Gly) c.3883T>G (p.Cys1295Gly) c.3469T>G (p.Cys1157Gly) c.4075T>G (p.Cys1359Gly) c.4429T>G (p.Cys1477Gly) | |
2 | g.25742088A>G | CA346073566 | ASXL2 | c.4246T>C (p.Cys1416Arg) c.4249T>C (p.Cys1417Arg) c.4165T>C (p.Cys1389Arg) c.2698T>C (p.Cys900Arg) c.3883T>C (p.Cys1295Arg) c.3469T>C (p.Cys1157Arg) c.4075T>C (p.Cys1359Arg) c.4429T>C (p.Cys1477Arg) | |
2 | g.25742088A>T | CA346073567 | ASXL2 | c.4246T>A (p.Cys1416Ser) c.4249T>A (p.Cys1417Ser) c.4165T>A (p.Cys1389Ser) c.2698T>A (p.Cys900Ser) c.3883T>A (p.Cys1295Ser) c.3469T>A (p.Cys1157Ser) c.4075T>A (p.Cys1359Ser) c.4429T>A (p.Cys1477Ser) | |
2 | g.25742089G>A | CA425181273 | ASXL2 | c.4245C>T (p.Phe1415=) c.4248C>T (p.Phe1416=) c.4164C>T (p.Phe1388=) c.2697C>T (p.Phe899=) c.3882C>T (p.Phe1294=) c.3468C>T (p.Phe1156=) c.4074C>T (p.Phe1358=) c.4428C>T (p.Phe1476=) | |
2 | g.25742089G>C | CA346073568 | ASXL2 | c.4245C>G (p.Phe1415Leu) c.4248C>G (p.Phe1416Leu) c.4164C>G (p.Phe1388Leu) c.2697C>G (p.Phe899Leu) c.3882C>G (p.Phe1294Leu) c.3468C>G (p.Phe1156Leu) c.4074C>G (p.Phe1358Leu) c.4428C>G (p.Phe1476Leu) | |
2 | g.25742089G>T | CA346073569 | ASXL2 | c.4245C>A (p.Phe1415Leu) c.4248C>A (p.Phe1416Leu) c.4164C>A (p.Phe1388Leu) c.2697C>A (p.Phe899Leu) c.3882C>A (p.Phe1294Leu) c.3468C>A (p.Phe1156Leu) c.4074C>A (p.Phe1358Leu) c.4428C>A (p.Phe1476Leu) | |
2 | g.25742090A>C | CA346073570 | ASXL2 | c.4244T>G (p.Phe1415Cys) c.4247T>G (p.Phe1416Cys) c.4163T>G (p.Phe1388Cys) c.2696T>G (p.Phe899Cys) c.3881T>G (p.Phe1294Cys) c.3467T>G (p.Phe1156Cys) c.4073T>G (p.Phe1358Cys) c.4427T>G (p.Phe1476Cys) | |
2 | g.25742090A>G | CA346073571 | ASXL2 | c.4244T>C (p.Phe1415Ser) c.4247T>C (p.Phe1416Ser) c.4163T>C (p.Phe1388Ser) c.2696T>C (p.Phe899Ser) c.3881T>C (p.Phe1294Ser) c.3467T>C (p.Phe1156Ser) c.4073T>C (p.Phe1358Ser) c.4427T>C (p.Phe1476Ser) | |
2 | g.25742090A>T | CA346073572 | ASXL2 | c.4244T>A (p.Phe1415Tyr) c.4247T>A (p.Phe1416Tyr) c.4163T>A (p.Phe1388Tyr) c.2696T>A (p.Phe899Tyr) c.3881T>A (p.Phe1294Tyr) c.3467T>A (p.Phe1156Tyr) c.4073T>A (p.Phe1358Tyr) c.4427T>A (p.Phe1476Tyr) | |
2 | g.25742091A>C | CA346073573 | ASXL2 | c.4243T>G (p.Phe1415Val) c.4246T>G (p.Phe1416Val) c.4162T>G (p.Phe1388Val) c.2695T>G (p.Phe899Val) c.3880T>G (p.Phe1294Val) c.3466T>G (p.Phe1156Val) c.4072T>G (p.Phe1358Val) c.4426T>G (p.Phe1476Val) | |
2 | g.25742091A>G | CA346073575 | ASXL2 | c.4243T>C (p.Phe1415Leu) c.4246T>C (p.Phe1416Leu) c.4162T>C (p.Phe1388Leu) c.2695T>C (p.Phe899Leu) c.3880T>C (p.Phe1294Leu) c.3466T>C (p.Phe1156Leu) c.4072T>C (p.Phe1358Leu) c.4426T>C (p.Phe1476Leu) | |
2 | g.25742091A>T | CA346073574 | ASXL2 | c.4243T>A (p.Phe1415Ile) c.4246T>A (p.Phe1416Ile) c.4162T>A (p.Phe1388Ile) c.2695T>A (p.Phe899Ile) c.3880T>A (p.Phe1294Ile) c.3466T>A (p.Phe1156Ile) c.4072T>A (p.Phe1358Ile) c.4426T>A (p.Phe1476Ile) | |
2 | g.25742092A= | CA1239490322 | ASXL2 | c.4242T= (p.Ala1414=) c.4245T= (p.Ala1415=) c.4161T= (p.Ala1387=) c.2694T= (p.Ala898=) c.3879T= (p.Ala1293=) c.3465T= (p.Ala1155=) c.4071T= (p.Ala1357=) c.4425T= (p.Ala1475=) | |
2 | g.25742092A>C | CA1557329 | ASXL2 | c.4242T>G (p.Ala1414=) c.4245T>G (p.Ala1415=) c.4161T>G (p.Ala1387=) c.2694T>G (p.Ala898=) c.3879T>G (p.Ala1293=) c.3465T>G (p.Ala1155=) c.4071T>G (p.Ala1357=) c.4425T>G (p.Ala1475=) | dbSNP ExAC gnomAD v2 |
2 | g.25742092A>G | CA1557327 | ASXL2 | c.4242T>C (p.Ala1414=) c.4245T>C (p.Ala1415=) c.4161T>C (p.Ala1387=) c.2694T>C (p.Ala898=) c.3879T>C (p.Ala1293=) c.3465T>C (p.Ala1155=) c.4071T>C (p.Ala1357=) c.4425T>C (p.Ala1475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742092A>T | CA1557328 | ASXL2 | c.4242T>A (p.Ala1414=) c.4245T>A (p.Ala1415=) c.4161T>A (p.Ala1387=) c.2694T>A (p.Ala898=) c.3879T>A (p.Ala1293=) c.3465T>A (p.Ala1155=) c.4071T>A (p.Ala1357=) c.4425T>A (p.Ala1475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742093G>A | CA43734139 | ASXL2 | c.4241C>T (p.Ala1414Val) c.4244C>T (p.Ala1415Val) c.4160C>T (p.Ala1387Val) c.2693C>T (p.Ala898Val) c.3878C>T (p.Ala1293Val) c.3464C>T (p.Ala1155Val) c.4070C>T (p.Ala1357Val) c.4424C>T (p.Ala1475Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742093G>C | CA346073576 | ASXL2 | c.4241C>G (p.Ala1414Gly) c.4244C>G (p.Ala1415Gly) c.4160C>G (p.Ala1387Gly) c.2693C>G (p.Ala898Gly) c.3878C>G (p.Ala1293Gly) c.3464C>G (p.Ala1155Gly) c.4070C>G (p.Ala1357Gly) c.4424C>G (p.Ala1475Gly) | |
2 | g.25742093G= | CA1239490323 | ASXL2 | c.4241C= (p.Ala1414=) c.4244C= (p.Ala1415=) c.4160C= (p.Ala1387=) c.2693C= (p.Ala898=) c.3878C= (p.Ala1293=) c.3464C= (p.Ala1155=) c.4070C= (p.Ala1357=) c.4424C= (p.Ala1475=) | |
2 | g.25742093G>T | CA346073577 | ASXL2 | c.4241C>A (p.Ala1414Asp) c.4244C>A (p.Ala1415Asp) c.4160C>A (p.Ala1387Asp) c.2693C>A (p.Ala898Asp) c.3878C>A (p.Ala1293Asp) c.3464C>A (p.Ala1155Asp) c.4070C>A (p.Ala1357Asp) c.4424C>A (p.Ala1475Asp) | |
2 | g.25742094C>A | CA346073578 | ASXL2 | c.4240G>T (p.Ala1414Ser) c.4243G>T (p.Ala1415Ser) c.4159G>T (p.Ala1387Ser) c.2692G>T (p.Ala898Ser) c.3877G>T (p.Ala1293Ser) c.3463G>T (p.Ala1155Ser) c.4069G>T (p.Ala1357Ser) c.4423G>T (p.Ala1475Ser) | |
2 | g.25742094C= | CA1239490324 | ASXL2 | c.4240G= (p.Ala1414=) c.4243G= (p.Ala1415=) c.4159G= (p.Ala1387=) c.2692G= (p.Ala898=) c.3877G= (p.Ala1293=) c.3463G= (p.Ala1155=) c.4069G= (p.Ala1357=) c.4423G= (p.Ala1475=) | |
2 | g.25742094C>G | CA346073579 | ASXL2 | c.4240G>C (p.Ala1414Pro) c.4243G>C (p.Ala1415Pro) c.4159G>C (p.Ala1387Pro) c.2692G>C (p.Ala898Pro) c.3877G>C (p.Ala1293Pro) c.3463G>C (p.Ala1155Pro) c.4069G>C (p.Ala1357Pro) c.4423G>C (p.Ala1475Pro) | |
2 | g.25742094C>T | CA1557330 | ASXL2 | c.4240G>A (p.Ala1414Thr) c.4243G>A (p.Ala1415Thr) c.4159G>A (p.Ala1387Thr) c.2692G>A (p.Ala898Thr) c.3877G>A (p.Ala1293Thr) c.3463G>A (p.Ala1155Thr) c.4069G>A (p.Ala1357Thr) c.4423G>A (p.Ala1475Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742095G>A | CA1557331 | ASXL2 | c.4239C>T (p.Gly1413=) c.4242C>T (p.Gly1414=) c.4158C>T (p.Gly1386=) c.2691C>T (p.Gly897=) c.3876C>T (p.Gly1292=) c.3462C>T (p.Gly1154=) c.4068C>T (p.Gly1356=) c.4422C>T (p.Gly1474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742095G>C | CA425181281 | ASXL2 | c.4239C>G (p.Gly1413=) c.4242C>G (p.Gly1414=) c.4158C>G (p.Gly1386=) c.2691C>G (p.Gly897=) c.3876C>G (p.Gly1292=) c.3462C>G (p.Gly1154=) c.4068C>G (p.Gly1356=) c.4422C>G (p.Gly1474=) | |
2 | g.25742095G= | CA1239490325 | ASXL2 | c.4239C= (p.Gly1413=) c.4242C= (p.Gly1414=) c.4158C= (p.Gly1386=) c.2691C= (p.Gly897=) c.3876C= (p.Gly1292=) c.3462C= (p.Gly1154=) c.4068C= (p.Gly1356=) c.4422C= (p.Gly1474=) | |
2 | g.25742095G>T | CA425181279 | ASXL2 | c.4239C>A (p.Gly1413=) c.4242C>A (p.Gly1414=) c.4158C>A (p.Gly1386=) c.2691C>A (p.Gly897=) c.3876C>A (p.Gly1292=) c.3462C>A (p.Gly1154=) c.4068C>A (p.Gly1356=) c.4422C>A (p.Gly1474=) | |
2 | g.25742096C>A | CA346073582 | ASXL2 | c.4238G>T (p.Gly1413Val) c.4241G>T (p.Gly1414Val) c.4157G>T (p.Gly1386Val) c.2690G>T (p.Gly897Val) c.3875G>T (p.Gly1292Val) c.3461G>T (p.Gly1154Val) c.4067G>T (p.Gly1356Val) c.4421G>T (p.Gly1474Val) | |
2 | g.25742096C>G | CA346073581 | ASXL2 | c.4238G>C (p.Gly1413Ala) c.4241G>C (p.Gly1414Ala) c.4157G>C (p.Gly1386Ala) c.2690G>C (p.Gly897Ala) c.3875G>C (p.Gly1292Ala) c.3461G>C (p.Gly1154Ala) c.4067G>C (p.Gly1356Ala) c.4421G>C (p.Gly1474Ala) | |
2 | g.25742096C>T | CA346073580 | ASXL2 | c.4238G>A (p.Gly1413Asp) c.4241G>A (p.Gly1414Asp) c.4157G>A (p.Gly1386Asp) c.2690G>A (p.Gly897Asp) c.3875G>A (p.Gly1292Asp) c.3461G>A (p.Gly1154Asp) c.4067G>A (p.Gly1356Asp) c.4421G>A (p.Gly1474Asp) | |
2 | g.25742097C>A | CA346073585 | ASXL2 | c.4237G>T (p.Gly1413Cys) c.4240G>T (p.Gly1414Cys) c.4156G>T (p.Gly1386Cys) c.2689G>T (p.Gly897Cys) c.3874G>T (p.Gly1292Cys) c.3460G>T (p.Gly1154Cys) c.4066G>T (p.Gly1356Cys) c.4420G>T (p.Gly1474Cys) | |
2 | g.25742097C>G | CA346073583 | ASXL2 | c.4237G>C (p.Gly1413Arg) c.4240G>C (p.Gly1414Arg) c.4156G>C (p.Gly1386Arg) c.2689G>C (p.Gly897Arg) c.3874G>C (p.Gly1292Arg) c.3460G>C (p.Gly1154Arg) c.4066G>C (p.Gly1356Arg) c.4420G>C (p.Gly1474Arg) | |
2 | g.25742097C>T | CA346073584 | ASXL2 | c.4237G>A (p.Gly1413Ser) c.4240G>A (p.Gly1414Ser) c.4156G>A (p.Gly1386Ser) c.2689G>A (p.Gly897Ser) c.3874G>A (p.Gly1292Ser) c.3460G>A (p.Gly1154Ser) c.4066G>A (p.Gly1356Ser) c.4420G>A (p.Gly1474Ser) | |
2 | g.25742098A>C | CA346073586 | ASXL2 | c.4236T>G (p.Cys1412Trp) c.4239T>G (p.Cys1413Trp) c.4155T>G (p.Cys1385Trp) c.2688T>G (p.Cys896Trp) c.3873T>G (p.Cys1291Trp) c.3459T>G (p.Cys1153Trp) c.4065T>G (p.Cys1355Trp) c.4419T>G (p.Cys1473Trp) | |
2 | g.25742098A>G | CA425181283 | ASXL2 | c.4236T>C (p.Cys1412=) c.4239T>C (p.Cys1413=) c.4155T>C (p.Cys1385=) c.2688T>C (p.Cys896=) c.3873T>C (p.Cys1291=) c.3459T>C (p.Cys1153=) c.4065T>C (p.Cys1355=) c.4419T>C (p.Cys1473=) | |
2 | g.25742098A>T | CA346073587 | ASXL2 | c.4236T>A (p.Cys1412Ter) c.4239T>A (p.Cys1413Ter) c.4155T>A (p.Cys1385Ter) c.2688T>A (p.Cys896Ter) c.3873T>A (p.Cys1291Ter) c.3459T>A (p.Cys1153Ter) c.4065T>A (p.Cys1355Ter) c.4419T>A (p.Cys1473Ter) | |
2 | g.25742099C>A | CA346073588 | ASXL2 | c.4235G>T (p.Cys1412Phe) c.4238G>T (p.Cys1413Phe) c.4154G>T (p.Cys1385Phe) c.2687G>T (p.Cys896Phe) c.3872G>T (p.Cys1291Phe) c.3458G>T (p.Cys1153Phe) c.4064G>T (p.Cys1355Phe) c.4418G>T (p.Cys1473Phe) | |
2 | g.25742099C>G | CA346073589 | ASXL2 | c.4235G>C (p.Cys1412Ser) c.4238G>C (p.Cys1413Ser) c.4154G>C (p.Cys1385Ser) c.2687G>C (p.Cys896Ser) c.3872G>C (p.Cys1291Ser) c.3458G>C (p.Cys1153Ser) c.4064G>C (p.Cys1355Ser) c.4418G>C (p.Cys1473Ser) | |
2 | g.25742099C>T | CA346073590 | ASXL2 | c.4235G>A (p.Cys1412Tyr) c.4238G>A (p.Cys1413Tyr) c.4154G>A (p.Cys1385Tyr) c.2687G>A (p.Cys896Tyr) c.3872G>A (p.Cys1291Tyr) c.3458G>A (p.Cys1153Tyr) c.4064G>A (p.Cys1355Tyr) c.4418G>A (p.Cys1473Tyr) | |
2 | g.25742100A>C | CA346073591 | ASXL2 | c.4234T>G (p.Cys1412Gly) c.4237T>G (p.Cys1413Gly) c.4153T>G (p.Cys1385Gly) c.2686T>G (p.Cys896Gly) c.3871T>G (p.Cys1291Gly) c.3457T>G (p.Cys1153Gly) c.4063T>G (p.Cys1355Gly) c.4417T>G (p.Cys1473Gly) | |
2 | g.25742100A>G | CA346073592 | ASXL2 | c.4234T>C (p.Cys1412Arg) c.4237T>C (p.Cys1413Arg) c.4153T>C (p.Cys1385Arg) c.2686T>C (p.Cys896Arg) c.3871T>C (p.Cys1291Arg) c.3457T>C (p.Cys1153Arg) c.4063T>C (p.Cys1355Arg) c.4417T>C (p.Cys1473Arg) | |
2 | g.25742100A>T | CA346073593 | ASXL2 | c.4234T>A (p.Cys1412Ser) c.4237T>A (p.Cys1413Ser) c.4153T>A (p.Cys1385Ser) c.2686T>A (p.Cys896Ser) c.3871T>A (p.Cys1291Ser) c.3457T>A (p.Cys1153Ser) c.4063T>A (p.Cys1355Ser) c.4417T>A (p.Cys1473Ser) | |
2 | g.25742101G>A | CA425181284 | ASXL2 | c.4233C>T (p.Gly1411=) c.4236C>T (p.Gly1412=) c.4152C>T (p.Gly1384=) c.2685C>T (p.Gly895=) c.3870C>T (p.Gly1290=) c.3456C>T (p.Gly1152=) c.4062C>T (p.Gly1354=) c.4416C>T (p.Gly1472=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742101G>C | CA425181285 | ASXL2 | c.4233C>G (p.Gly1411=) c.4236C>G (p.Gly1412=) c.4152C>G (p.Gly1384=) c.2685C>G (p.Gly895=) c.3870C>G (p.Gly1290=) c.3456C>G (p.Gly1152=) c.4062C>G (p.Gly1354=) c.4416C>G (p.Gly1472=) | |
2 | g.25742101G= | CA1239490326 | ASXL2 | c.4233C= (p.Gly1411=) c.4236C= (p.Gly1412=) c.4152C= (p.Gly1384=) c.2685C= (p.Gly895=) c.3870C= (p.Gly1290=) c.3456C= (p.Gly1152=) c.4062C= (p.Gly1354=) c.4416C= (p.Gly1472=) | |
2 | g.25742101G>T | CA425181286 | ASXL2 | c.4233C>A (p.Gly1411=) c.4236C>A (p.Gly1412=) c.4152C>A (p.Gly1384=) c.2685C>A (p.Gly895=) c.3870C>A (p.Gly1290=) c.3456C>A (p.Gly1152=) c.4062C>A (p.Gly1354=) c.4416C>A (p.Gly1472=) | |
2 | g.25742102C>A | CA346073594 | ASXL2 | c.4232G>T (p.Gly1411Val) c.4235G>T (p.Gly1412Val) c.4151G>T (p.Gly1384Val) c.2684G>T (p.Gly895Val) c.3869G>T (p.Gly1290Val) c.3455G>T (p.Gly1152Val) c.4061G>T (p.Gly1354Val) c.4415G>T (p.Gly1472Val) | |
2 | g.25742102C>G | CA346073595 | ASXL2 | c.4232G>C (p.Gly1411Ala) c.4235G>C (p.Gly1412Ala) c.4151G>C (p.Gly1384Ala) c.2684G>C (p.Gly895Ala) c.3869G>C (p.Gly1290Ala) c.3455G>C (p.Gly1152Ala) c.4061G>C (p.Gly1354Ala) c.4415G>C (p.Gly1472Ala) | |
2 | g.25742102C>T | CA346073596 | ASXL2 | c.4232G>A (p.Gly1411Asp) c.4235G>A (p.Gly1412Asp) c.4151G>A (p.Gly1384Asp) c.2684G>A (p.Gly895Asp) c.3869G>A (p.Gly1290Asp) c.3455G>A (p.Gly1152Asp) c.4061G>A (p.Gly1354Asp) c.4415G>A (p.Gly1472Asp) | |
2 | g.25742103C>A | CA346073599 | ASXL2 | c.4231G>T (p.Gly1411Cys) c.4234G>T (p.Gly1412Cys) c.4150G>T (p.Gly1384Cys) c.2683G>T (p.Gly895Cys) c.3868G>T (p.Gly1290Cys) c.3454G>T (p.Gly1152Cys) c.4060G>T (p.Gly1354Cys) c.4414G>T (p.Gly1472Cys) | |
2 | g.25742103C= | CA1239490327 | ASXL2 | c.4231G= (p.Gly1411=) c.4234G= (p.Gly1412=) c.4150G= (p.Gly1384=) c.2683G= (p.Gly895=) c.3868G= (p.Gly1290=) c.3454G= (p.Gly1152=) c.4060G= (p.Gly1354=) c.4414G= (p.Gly1472=) | |
2 | g.25742103C>G | CA346073597 | ASXL2 | c.4231G>C (p.Gly1411Arg) c.4234G>C (p.Gly1412Arg) c.4150G>C (p.Gly1384Arg) c.2683G>C (p.Gly895Arg) c.3868G>C (p.Gly1290Arg) c.3454G>C (p.Gly1152Arg) c.4060G>C (p.Gly1354Arg) c.4414G>C (p.Gly1472Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742103C>T | CA346073598 | ASXL2 | c.4231G>A (p.Gly1411Ser) c.4234G>A (p.Gly1412Ser) c.4150G>A (p.Gly1384Ser) c.2683G>A (p.Gly895Ser) c.3868G>A (p.Gly1290Ser) c.3454G>A (p.Gly1152Ser) c.4060G>A (p.Gly1354Ser) c.4414G>A (p.Gly1472Ser) | COSMIC COSMIC |
2 | g.25742104T>A | CA346073600 | ASXL2 | c.4230A>T (p.Lys1410Asn) c.4233A>T (p.Lys1411Asn) c.4149A>T (p.Lys1383Asn) c.2682A>T (p.Lys894Asn) c.3867A>T (p.Lys1289Asn) c.3453A>T (p.Lys1151Asn) c.4059A>T (p.Lys1353Asn) c.4413A>T (p.Lys1471Asn) | |
2 | g.25742104T>C | CA425181292 | ASXL2 | c.4230A>G (p.Lys1410=) c.4233A>G (p.Lys1411=) c.4149A>G (p.Lys1383=) c.2682A>G (p.Lys894=) c.3867A>G (p.Lys1289=) c.3453A>G (p.Lys1151=) c.4059A>G (p.Lys1353=) c.4413A>G (p.Lys1471=) | |
2 | g.25742104T>G | CA346073601 | ASXL2 | c.4230A>C (p.Lys1410Asn) c.4233A>C (p.Lys1411Asn) c.4149A>C (p.Lys1383Asn) c.2682A>C (p.Lys894Asn) c.3867A>C (p.Lys1289Asn) c.3453A>C (p.Lys1151Asn) c.4059A>C (p.Lys1353Asn) c.4413A>C (p.Lys1471Asn) | |
2 | g.25742105T>A | CA346073602 | ASXL2 | c.4229A>T (p.Lys1410Ile) c.4232A>T (p.Lys1411Ile) c.4148A>T (p.Lys1383Ile) c.2681A>T (p.Lys894Ile) c.3866A>T (p.Lys1289Ile) c.3452A>T (p.Lys1151Ile) c.4058A>T (p.Lys1353Ile) c.4412A>T (p.Lys1471Ile) | ClinVar |
2 | g.25742105T>C | CA346073603 | ASXL2 | c.4229A>G (p.Lys1410Arg) c.4232A>G (p.Lys1411Arg) c.4148A>G (p.Lys1383Arg) c.2681A>G (p.Lys894Arg) c.3866A>G (p.Lys1289Arg) c.3452A>G (p.Lys1151Arg) c.4058A>G (p.Lys1353Arg) c.4412A>G (p.Lys1471Arg) | ClinVar gnomAD v4 |
2 | g.25742105T>G | CA346073604 | ASXL2 | c.4229A>C (p.Lys1410Thr) c.4232A>C (p.Lys1411Thr) c.4148A>C (p.Lys1383Thr) c.2681A>C (p.Lys894Thr) c.3866A>C (p.Lys1289Thr) c.3452A>C (p.Lys1151Thr) c.4058A>C (p.Lys1353Thr) c.4412A>C (p.Lys1471Thr) | |
2 | g.25742106T>A | CA346073605 | ASXL2 | c.4228A>T (p.Lys1410Ter) c.4231A>T (p.Lys1411Ter) c.4147A>T (p.Lys1383Ter) c.2680A>T (p.Lys894Ter) c.3865A>T (p.Lys1289Ter) c.3451A>T (p.Lys1151Ter) c.4057A>T (p.Lys1353Ter) c.4411A>T (p.Lys1471Ter) | |
2 | g.25742106T>C | CA346073606 | ASXL2 | c.4228A>G (p.Lys1410Glu) c.4231A>G (p.Lys1411Glu) c.4147A>G (p.Lys1383Glu) c.2680A>G (p.Lys894Glu) c.3865A>G (p.Lys1289Glu) c.3451A>G (p.Lys1151Glu) c.4057A>G (p.Lys1353Glu) c.4411A>G (p.Lys1471Glu) | |
2 | g.25742106T>G | CA346073607 | ASXL2 | c.4228A>C (p.Lys1410Gln) c.4231A>C (p.Lys1411Gln) c.4147A>C (p.Lys1383Gln) c.2680A>C (p.Lys894Gln) c.3865A>C (p.Lys1289Gln) c.3451A>C (p.Lys1151Gln) c.4057A>C (p.Lys1353Gln) c.4411A>C (p.Lys1471Gln) | |
2 | g.25742107G>A | CA425181294 | ASXL2 | c.4227C>T (p.Cys1409=) c.4230C>T (p.Cys1410=) c.4146C>T (p.Cys1382=) c.2679C>T (p.Cys893=) c.3864C>T (p.Cys1288=) c.3450C>T (p.Cys1150=) c.4056C>T (p.Cys1352=) c.4410C>T (p.Cys1470=) | |
2 | g.25742107G>C | CA346073608 | ASXL2 | c.4227C>G (p.Cys1409Trp) c.4230C>G (p.Cys1410Trp) c.4146C>G (p.Cys1382Trp) c.2679C>G (p.Cys893Trp) c.3864C>G (p.Cys1288Trp) c.3450C>G (p.Cys1150Trp) c.4056C>G (p.Cys1352Trp) c.4410C>G (p.Cys1470Trp) | |
2 | g.25742107G>T | CA346073609 | ASXL2 | c.4227C>A (p.Cys1409Ter) c.4230C>A (p.Cys1410Ter) c.4146C>A (p.Cys1382Ter) c.2679C>A (p.Cys893Ter) c.3864C>A (p.Cys1288Ter) c.3450C>A (p.Cys1150Ter) c.4056C>A (p.Cys1352Ter) c.4410C>A (p.Cys1470Ter) | COSMIC COSMIC |
2 | g.25742108C>A | CA346073610 | ASXL2 | c.4226G>T (p.Cys1409Phe) c.4229G>T (p.Cys1410Phe) c.4145G>T (p.Cys1382Phe) c.2678G>T (p.Cys893Phe) c.3863G>T (p.Cys1288Phe) c.3449G>T (p.Cys1150Phe) c.4055G>T (p.Cys1352Phe) c.4409G>T (p.Cys1470Phe) | |
2 | g.25742108C>G | CA346073611 | ASXL2 | c.4226G>C (p.Cys1409Ser) c.4229G>C (p.Cys1410Ser) c.4145G>C (p.Cys1382Ser) c.2678G>C (p.Cys893Ser) c.3863G>C (p.Cys1288Ser) c.3449G>C (p.Cys1150Ser) c.4055G>C (p.Cys1352Ser) c.4409G>C (p.Cys1470Ser) | |
2 | g.25742108C>T | CA346073612 | ASXL2 | c.4226G>A (p.Cys1409Tyr) c.4229G>A (p.Cys1410Tyr) c.4145G>A (p.Cys1382Tyr) c.2678G>A (p.Cys893Tyr) c.3863G>A (p.Cys1288Tyr) c.3449G>A (p.Cys1150Tyr) c.4055G>A (p.Cys1352Tyr) c.4409G>A (p.Cys1470Tyr) | |
2 | g.25742109A= | CA1239490328 | ASXL2 | c.4225T= (p.Cys1409=) c.4228T= (p.Cys1410=) c.4144T= (p.Cys1382=) c.2677T= (p.Cys893=) c.3862T= (p.Cys1288=) c.3448T= (p.Cys1150=) c.4054T= (p.Cys1352=) c.4408T= (p.Cys1470=) | |
2 | g.25742109A>C | CA346073615 | ASXL2 | c.4225T>G (p.Cys1409Gly) c.4228T>G (p.Cys1410Gly) c.4144T>G (p.Cys1382Gly) c.2677T>G (p.Cys893Gly) c.3862T>G (p.Cys1288Gly) c.3448T>G (p.Cys1150Gly) c.4054T>G (p.Cys1352Gly) c.4408T>G (p.Cys1470Gly) | ClinVar dbSNP |
2 | g.25742109A>G | CA346073614 | ASXL2 | c.4225T>C (p.Cys1409Arg) c.4228T>C (p.Cys1410Arg) c.4144T>C (p.Cys1382Arg) c.2677T>C (p.Cys893Arg) c.3862T>C (p.Cys1288Arg) c.3448T>C (p.Cys1150Arg) c.4054T>C (p.Cys1352Arg) c.4408T>C (p.Cys1470Arg) | |
2 | g.25742109A>T | CA346073613 | ASXL2 | c.4225T>A (p.Cys1409Ser) c.4228T>A (p.Cys1410Ser) c.4144T>A (p.Cys1382Ser) c.2677T>A (p.Cys893Ser) c.3862T>A (p.Cys1288Ser) c.3448T>A (p.Cys1150Ser) c.4054T>A (p.Cys1352Ser) c.4408T>A (p.Cys1470Ser) | COSMIC COSMIC |
2 | g.25742110C>A | CA43734143 | ASXL2 | c.4224G>T (p.Met1408Ile) c.4227G>T (p.Met1409Ile) c.4143G>T (p.Met1381Ile) c.2676G>T (p.Met892Ile) c.3861G>T (p.Met1287Ile) c.3447G>T (p.Met1149Ile) c.4053G>T (p.Met1351Ile) c.4407G>T (p.Met1469Ile) | dbSNP |
2 | g.25742110C= | CA1239490329 | ASXL2 | c.4224G= (p.Met1408=) c.4227G= (p.Met1409=) c.4143G= (p.Met1381=) c.2676G= (p.Met892=) c.3861G= (p.Met1287=) c.3447G= (p.Met1149=) c.4053G= (p.Met1351=) c.4407G= (p.Met1469=) | |
2 | g.25742110C>G | CA346073617 | ASXL2 | c.4224G>C (p.Met1408Ile) c.4227G>C (p.Met1409Ile) c.4143G>C (p.Met1381Ile) c.2676G>C (p.Met892Ile) c.3861G>C (p.Met1287Ile) c.3447G>C (p.Met1149Ile) c.4053G>C (p.Met1351Ile) c.4407G>C (p.Met1469Ile) | |
2 | g.25742110C>T | CA346073616 | ASXL2 | c.4224G>A (p.Met1408Ile) c.4227G>A (p.Met1409Ile) c.4143G>A (p.Met1381Ile) c.2676G>A (p.Met892Ile) c.3861G>A (p.Met1287Ile) c.3447G>A (p.Met1149Ile) c.4053G>A (p.Met1351Ile) c.4407G>A (p.Met1469Ile) | |
2 | g.25742111A= | CA1239490330 | ASXL2 | c.4223T= (p.Met1408=) c.4226T= (p.Met1409=) c.4142T= (p.Met1381=) c.2675T= (p.Met892=) c.3860T= (p.Met1287=) c.3446T= (p.Met1149=) c.4052T= (p.Met1351=) c.4406T= (p.Met1469=) | |
2 | g.25742111A>C | CA346073618 | ASXL2 | c.4223T>G (p.Met1408Arg) c.4226T>G (p.Met1409Arg) c.4142T>G (p.Met1381Arg) c.2675T>G (p.Met892Arg) c.3860T>G (p.Met1287Arg) c.3446T>G (p.Met1149Arg) c.4052T>G (p.Met1351Arg) c.4406T>G (p.Met1469Arg) | |
2 | g.25742111A>G | CA346073619 | ASXL2 | c.4223T>C (p.Met1408Thr) c.4226T>C (p.Met1409Thr) c.4142T>C (p.Met1381Thr) c.2675T>C (p.Met892Thr) c.3860T>C (p.Met1287Thr) c.3446T>C (p.Met1149Thr) c.4052T>C (p.Met1351Thr) c.4406T>C (p.Met1469Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742111A>T | CA346073620 | ASXL2 | c.4223T>A (p.Met1408Lys) c.4226T>A (p.Met1409Lys) c.4142T>A (p.Met1381Lys) c.2675T>A (p.Met892Lys) c.3860T>A (p.Met1287Lys) c.3446T>A (p.Met1149Lys) c.4052T>A (p.Met1351Lys) c.4406T>A (p.Met1469Lys) | |
2 | g.25742112T>A | CA346073621 | ASXL2 | c.4222A>T (p.Met1408Leu) c.4225A>T (p.Met1409Leu) c.4141A>T (p.Met1381Leu) c.2674A>T (p.Met892Leu) c.3859A>T (p.Met1287Leu) c.3445A>T (p.Met1149Leu) c.4051A>T (p.Met1351Leu) c.4405A>T (p.Met1469Leu) | |
2 | g.25742112T>C | CA346073622 | ASXL2 | c.4222A>G (p.Met1408Val) c.4225A>G (p.Met1409Val) c.4141A>G (p.Met1381Val) c.2674A>G (p.Met892Val) c.3859A>G (p.Met1287Val) c.3445A>G (p.Met1149Val) c.4051A>G (p.Met1351Val) c.4405A>G (p.Met1469Val) | |
2 | g.25742112T>G | CA346073623 | ASXL2 | c.4222A>C (p.Met1408Leu) c.4225A>C (p.Met1409Leu) c.4141A>C (p.Met1381Leu) c.2674A>C (p.Met892Leu) c.3859A>C (p.Met1287Leu) c.3445A>C (p.Met1149Leu) c.4051A>C (p.Met1351Leu) c.4405A>C (p.Met1469Leu) | gnomAD v4 |
2 | g.25742113G>A | CA425181297 | ASXL2 | c.4221C>T (p.Ile1407=) c.4224C>T (p.Ile1408=) c.4140C>T (p.Ile1380=) c.2673C>T (p.Ile891=) c.3858C>T (p.Ile1286=) c.3444C>T (p.Ile1148=) c.4050C>T (p.Ile1350=) c.4404C>T (p.Ile1468=) | |
2 | g.25742113G>C | CA346073624 | ASXL2 | c.4221C>G (p.Ile1407Met) c.4224C>G (p.Ile1408Met) c.4140C>G (p.Ile1380Met) c.2673C>G (p.Ile891Met) c.3858C>G (p.Ile1286Met) c.3444C>G (p.Ile1148Met) c.4050C>G (p.Ile1350Met) c.4404C>G (p.Ile1468Met) | ClinVar gnomAD v4 |
2 | g.25742113G= | CA1239490331 | ASXL2 | c.4221C= (p.Ile1407=) c.4224C= (p.Ile1408=) c.4140C= (p.Ile1380=) c.2673C= (p.Ile891=) c.3858C= (p.Ile1286=) c.3444C= (p.Ile1148=) c.4050C= (p.Ile1350=) c.4404C= (p.Ile1468=) | |
2 | g.25742113G>T | CA1557332 | ASXL2 | c.4221C>A (p.Ile1407=) c.4224C>A (p.Ile1408=) c.4140C>A (p.Ile1380=) c.2673C>A (p.Ile891=) c.3858C>A (p.Ile1286=) c.3444C>A (p.Ile1148=) c.4050C>A (p.Ile1350=) c.4404C>A (p.Ile1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742114A>C | CA346073625 | ASXL2 | c.4220T>G (p.Ile1407Ser) c.4223T>G (p.Ile1408Ser) c.4139T>G (p.Ile1380Ser) c.2672T>G (p.Ile891Ser) c.3857T>G (p.Ile1286Ser) c.3443T>G (p.Ile1148Ser) c.4049T>G (p.Ile1350Ser) c.4403T>G (p.Ile1468Ser) | |
2 | g.25742114A>G | CA346073626 | ASXL2 | c.4220T>C (p.Ile1407Thr) c.4223T>C (p.Ile1408Thr) c.4139T>C (p.Ile1380Thr) c.2672T>C (p.Ile891Thr) c.3857T>C (p.Ile1286Thr) c.3443T>C (p.Ile1148Thr) c.4049T>C (p.Ile1350Thr) c.4403T>C (p.Ile1468Thr) | |
2 | g.25742114A>T | CA346073627 | ASXL2 | c.4220T>A (p.Ile1407Asn) c.4223T>A (p.Ile1408Asn) c.4139T>A (p.Ile1380Asn) c.2672T>A (p.Ile891Asn) c.3857T>A (p.Ile1286Asn) c.3443T>A (p.Ile1148Asn) c.4049T>A (p.Ile1350Asn) c.4403T>A (p.Ile1468Asn) | |
2 | g.25742115T>A | CA346073630 | ASXL2 | c.4219A>T (p.Ile1407Phe) c.4222A>T (p.Ile1408Phe) c.4138A>T (p.Ile1380Phe) c.2671A>T (p.Ile891Phe) c.3856A>T (p.Ile1286Phe) c.3442A>T (p.Ile1148Phe) c.4048A>T (p.Ile1350Phe) c.4402A>T (p.Ile1468Phe) | |
2 | g.25742115T>C | CA346073629 | ASXL2 | c.4219A>G (p.Ile1407Val) c.4222A>G (p.Ile1408Val) c.4138A>G (p.Ile1380Val) c.2671A>G (p.Ile891Val) c.3856A>G (p.Ile1286Val) c.3442A>G (p.Ile1148Val) c.4048A>G (p.Ile1350Val) c.4402A>G (p.Ile1468Val) | |
2 | g.25742115T>G | CA346073628 | ASXL2 | c.4219A>C (p.Ile1407Leu) c.4222A>C (p.Ile1408Leu) c.4138A>C (p.Ile1380Leu) c.2671A>C (p.Ile891Leu) c.3856A>C (p.Ile1286Leu) c.3442A>C (p.Ile1148Leu) c.4048A>C (p.Ile1350Leu) c.4402A>C (p.Ile1468Leu) | |
2 | g.25742116C>A | CA346073631 | ASXL2 | c.4218G>T (p.Met1406Ile) c.4221G>T (p.Met1407Ile) c.4137G>T (p.Met1379Ile) c.2670G>T (p.Met890Ile) c.3855G>T (p.Met1285Ile) c.3441G>T (p.Met1147Ile) c.4047G>T (p.Met1349Ile) c.4401G>T (p.Met1467Ile) | |
2 | g.25742116C>G | CA346073632 | ASXL2 | c.4218G>C (p.Met1406Ile) c.4221G>C (p.Met1407Ile) c.4137G>C (p.Met1379Ile) c.2670G>C (p.Met890Ile) c.3855G>C (p.Met1285Ile) c.3441G>C (p.Met1147Ile) c.4047G>C (p.Met1349Ile) c.4401G>C (p.Met1467Ile) | |
2 | g.25742116C>T | CA346073633 | ASXL2 | c.4218G>A (p.Met1406Ile) c.4221G>A (p.Met1407Ile) c.4137G>A (p.Met1379Ile) c.2670G>A (p.Met890Ile) c.3855G>A (p.Met1285Ile) c.3441G>A (p.Met1147Ile) c.4047G>A (p.Met1349Ile) c.4401G>A (p.Met1467Ile) | gnomAD v4 |