| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33743919_33743933delinsTGTCTTGATTCCCCC | CA2294857901 | ASXL3 | c.4074_4088delinsTGTCTTGATTCCCCC (p.Ser1358=) c.4071_4085delinsTGTCTTGATTCCCCC (p.Ser1357=) c.3951_3965delinsTGTCTTGATTCCCCC (p.Ser1317=) c.4047_4061delinsTGTCTTGATTCCCCC (p.Ser1349=) c.3993_4007delinsTGTCTTGATTCCCCC (p.Ser1331=) c.3954_3968delinsTGTCTTGATTCCCCC (p.Ser1318=) c.3903_3917delinsTGTCTTGATTCCCCC (p.Ser1301=) c.1035_1049delinsTGTCTTGATTCCCCC (p.Ser345=) | |
| 18 | g.33743920_33743933del | CA658824693 | ASXL3 | c.4075_4088del (p.Val1359AsnfsTer4) c.4072_4085del (p.Val1358AsnfsTer4) c.3952_3965del (p.Val1318AsnfsTer4) c.4048_4061del (p.Val1350AsnfsTer4) c.3994_4007del (p.Val1332AsnfsTer4) c.3955_3968del (p.Val1319AsnfsTer4) c.3904_3917del (p.Val1302AsnfsTer4) c.1036_1049del (p.Val346AsnfsTer4) | ClinVar dbSNP |
| 18 | g.33743933del | CA919961068 | ASXL3 | c.4088del (p.Pro1363GlnfsTer13) c.4085del (p.Pro1362GlnfsTer13) c.3965del (p.Pro1322GlnfsTer13) c.4061del (p.Pro1354GlnfsTer13) c.4007del (p.Pro1336GlnfsTer13) c.3968del (p.Pro1323GlnfsTer13) c.3917del (p.Pro1306GlnfsTer13) c.1049del (p.Pro350GlnfsTer13) | dbSNP |
| 18 | g.33743930C>A | CA402189931 | ASXL3 | c.4085C>A (p.Pro1362His) c.4082C>A (p.Pro1361His) c.3962C>A (p.Pro1321His) c.4058C>A (p.Pro1353His) c.4004C>A (p.Pro1335His) c.3965C>A (p.Pro1322His) c.3914C>A (p.Pro1305His) c.1046C>A (p.Pro349His) | |
| 18 | g.33743930C= | CA2294857908 | ASXL3 | c.4085C= (p.Pro1362=) c.4082C= (p.Pro1361=) c.3962C= (p.Pro1321=) c.4058C= (p.Pro1353=) c.4004C= (p.Pro1335=) c.3965C= (p.Pro1322=) c.3914C= (p.Pro1305=) c.1046C= (p.Pro349=) | |
| 18 | g.33743930C>G | CA402189933 | ASXL3 | c.4085C>G (p.Pro1362Arg) c.4082C>G (p.Pro1361Arg) c.3962C>G (p.Pro1321Arg) c.4058C>G (p.Pro1353Arg) c.4004C>G (p.Pro1335Arg) c.3965C>G (p.Pro1322Arg) c.3914C>G (p.Pro1305Arg) c.1046C>G (p.Pro349Arg) | dbSNP gnomAD v4 |
| 18 | g.33743930C>T | CA8934168 | ASXL3 | c.4085C>T (p.Pro1362Leu) c.4082C>T (p.Pro1361Leu) c.3962C>T (p.Pro1321Leu) c.4058C>T (p.Pro1353Leu) c.4004C>T (p.Pro1335Leu) c.3965C>T (p.Pro1322Leu) c.3914C>T (p.Pro1305Leu) c.1046C>T (p.Pro349Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743931C>A | CA503770615 | ASXL3 | c.4086C>A (p.Pro1362=) c.4083C>A (p.Pro1361=) c.3963C>A (p.Pro1321=) c.4059C>A (p.Pro1353=) c.4005C>A (p.Pro1335=) c.3966C>A (p.Pro1322=) c.3915C>A (p.Pro1305=) c.1047C>A (p.Pro349=) | |
| 18 | g.33743931C= | CA2294857909 | ASXL3 | c.4086C= (p.Pro1362=) c.4083C= (p.Pro1361=) c.3963C= (p.Pro1321=) c.4059C= (p.Pro1353=) c.4005C= (p.Pro1335=) c.3966C= (p.Pro1322=) c.3915C= (p.Pro1305=) c.1047C= (p.Pro349=) | |
| 18 | g.33743931C>G | CA503770618 | ASXL3 | c.4086C>G (p.Pro1362=) c.4083C>G (p.Pro1361=) c.3963C>G (p.Pro1321=) c.4059C>G (p.Pro1353=) c.4005C>G (p.Pro1335=) c.3966C>G (p.Pro1322=) c.3915C>G (p.Pro1305=) c.1047C>G (p.Pro349=) | |
| 18 | g.33743931C>T | CA8934169 | ASXL3 | c.4086C>T (p.Pro1362=) c.4083C>T (p.Pro1361=) c.3963C>T (p.Pro1321=) c.4059C>T (p.Pro1353=) c.4005C>T (p.Pro1335=) c.3966C>T (p.Pro1322=) c.3915C>T (p.Pro1305=) c.1047C>T (p.Pro349=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743932C>A | CA402189935 | ASXL3 | c.4087C>A (p.Pro1363Thr) c.4084C>A (p.Pro1362Thr) c.3964C>A (p.Pro1322Thr) c.4060C>A (p.Pro1354Thr) c.4006C>A (p.Pro1336Thr) c.3967C>A (p.Pro1323Thr) c.3916C>A (p.Pro1306Thr) c.1048C>A (p.Pro350Thr) | |
| 18 | g.33743932C>G | CA402189938 | ASXL3 | c.4087C>G (p.Pro1363Ala) c.4084C>G (p.Pro1362Ala) c.3964C>G (p.Pro1322Ala) c.4060C>G (p.Pro1354Ala) c.4006C>G (p.Pro1336Ala) c.3967C>G (p.Pro1323Ala) c.3916C>G (p.Pro1306Ala) c.1048C>G (p.Pro350Ala) | |
| 18 | g.33743932C>T | CA402189939 | ASXL3 | c.4087C>T (p.Pro1363Ser) c.4084C>T (p.Pro1362Ser) c.3964C>T (p.Pro1322Ser) c.4060C>T (p.Pro1354Ser) c.4006C>T (p.Pro1336Ser) c.3967C>T (p.Pro1323Ser) c.3916C>T (p.Pro1306Ser) c.1048C>T (p.Pro350Ser) | gnomAD v4 |
| 18 | g.33743933C>A | CA402189943 | ASXL3 | c.4088C>A (p.Pro1363Gln) c.4085C>A (p.Pro1362Gln) c.3965C>A (p.Pro1322Gln) c.4061C>A (p.Pro1354Gln) c.4007C>A (p.Pro1336Gln) c.3968C>A (p.Pro1323Gln) c.3917C>A (p.Pro1306Gln) c.1049C>A (p.Pro350Gln) | |
| 18 | g.33743933C>G | CA402189944 | ASXL3 | c.4088C>G (p.Pro1363Arg) c.4085C>G (p.Pro1362Arg) c.3965C>G (p.Pro1322Arg) c.4061C>G (p.Pro1354Arg) c.4007C>G (p.Pro1336Arg) c.3968C>G (p.Pro1323Arg) c.3917C>G (p.Pro1306Arg) c.1049C>G (p.Pro350Arg) | |
| 18 | g.33743933C>T | CA402189946 | ASXL3 | c.4088C>T (p.Pro1363Leu) c.4085C>T (p.Pro1362Leu) c.3965C>T (p.Pro1322Leu) c.4061C>T (p.Pro1354Leu) c.4007C>T (p.Pro1336Leu) c.3968C>T (p.Pro1323Leu) c.3917C>T (p.Pro1306Leu) c.1049C>T (p.Pro350Leu) | |
| 18 | g.33743934A= | CA2294857910 | ASXL3 | c.4089A= (p.Pro1363=) c.4086A= (p.Pro1362=) c.3966A= (p.Pro1322=) c.4062A= (p.Pro1354=) c.4008A= (p.Pro1336=) c.3969A= (p.Pro1323=) c.3918A= (p.Pro1306=) c.1050A= (p.Pro350=) | |
| 18 | g.33743934A>C | CA503770622 | ASXL3 | c.4089A>C (p.Pro1363=) c.4086A>C (p.Pro1362=) c.3966A>C (p.Pro1322=) c.4062A>C (p.Pro1354=) c.4008A>C (p.Pro1336=) c.3969A>C (p.Pro1323=) c.3918A>C (p.Pro1306=) c.1050A>C (p.Pro350=) | |
| 18 | g.33743934A>G | CA297793339 | ASXL3 | c.4089A>G (p.Pro1363=) c.4086A>G (p.Pro1362=) c.3966A>G (p.Pro1322=) c.4062A>G (p.Pro1354=) c.4008A>G (p.Pro1336=) c.3969A>G (p.Pro1323=) c.3918A>G (p.Pro1306=) c.1050A>G (p.Pro350=) | dbSNP gnomAD v4 |
| 18 | g.33743934A>T | CA503770625 | ASXL3 | c.4089A>T (p.Pro1363=) c.4086A>T (p.Pro1362=) c.3966A>T (p.Pro1322=) c.4062A>T (p.Pro1354=) c.4008A>T (p.Pro1336=) c.3969A>T (p.Pro1323=) c.3918A>T (p.Pro1306=) c.1050A>T (p.Pro350=) | |
| 18 | g.33743935dup | CA503770627 | ASXL3 | c.4090dup (p.Met1364AsnfsTer4) c.4087dup (p.Met1363AsnfsTer4) c.3967dup (p.Met1323AsnfsTer4) c.4063dup (p.Met1355AsnfsTer4) c.4009dup (p.Met1337AsnfsTer4) c.3970dup (p.Met1324AsnfsTer4) c.3919dup (p.Met1307AsnfsTer4) c.1051dup (p.Met351AsnfsTer4) | |
| 18 | g.33743934_33743936delinsAAT | CA2294857911 | ASXL3 | c.4089_4091delinsAAT (p.Pro1363=) c.4086_4088delinsAAT (p.Pro1362=) c.3966_3968delinsAAT (p.Pro1322=) c.4062_4064delinsAAT (p.Pro1354=) c.4008_4010delinsAAT (p.Pro1336=) c.3969_3971delinsAAT (p.Pro1323=) c.3918_3920delinsAAT (p.Pro1306=) c.1050_1052delinsAAT (p.Pro350=) | |
| 18 | g.33743935A= | CA2294857912 | ASXL3 | c.4090A= (p.Met1364=) c.4087A= (p.Met1363=) c.3967A= (p.Met1323=) c.4063A= (p.Met1355=) c.4009A= (p.Met1337=) c.3970A= (p.Met1324=) c.3919A= (p.Met1307=) c.1051A= (p.Met351=) | |
| 18 | g.33743935A>C | CA402189948 | ASXL3 | c.4090A>C (p.Met1364Leu) c.4087A>C (p.Met1363Leu) c.3967A>C (p.Met1323Leu) c.4063A>C (p.Met1355Leu) c.4009A>C (p.Met1337Leu) c.3970A>C (p.Met1324Leu) c.3919A>C (p.Met1307Leu) c.1051A>C (p.Met351Leu) | |
| 18 | g.33743935A>G | CA8934170 | ASXL3 | c.4090A>G (p.Met1364Val) c.4087A>G (p.Met1363Val) c.3967A>G (p.Met1323Val) c.4063A>G (p.Met1355Val) c.4009A>G (p.Met1337Val) c.3970A>G (p.Met1324Val) c.3919A>G (p.Met1307Val) c.1051A>G (p.Met351Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743935A>T | CA402189952 | ASXL3 | c.4090A>T (p.Met1364Leu) c.4087A>T (p.Met1363Leu) c.3967A>T (p.Met1323Leu) c.4063A>T (p.Met1355Leu) c.4009A>T (p.Met1337Leu) c.3970A>T (p.Met1324Leu) c.3919A>T (p.Met1307Leu) c.1051A>T (p.Met351Leu) | |
| 18 | g.33743935_33743936delinsG | CA915952505 | ASXL3 | c.4090_4091delinsG (p.Met1364GlyfsTer12) c.4087_4088delinsG (p.Met1363GlyfsTer12) c.3967_3968delinsG (p.Met1323GlyfsTer12) c.4063_4064delinsG (p.Met1355GlyfsTer12) c.4009_4010delinsG (p.Met1337GlyfsTer12) c.3970_3971delinsG (p.Met1324GlyfsTer12) c.3919_3920delinsG (p.Met1307GlyfsTer12) c.1051_1052delinsG (p.Met351GlyfsTer12) | ClinVar dbSNP |
| 18 | g.33743936T>A | CA402189957 | ASXL3 | c.4091T>A (p.Met1364Lys) c.4088T>A (p.Met1363Lys) c.3968T>A (p.Met1323Lys) c.4064T>A (p.Met1355Lys) c.4010T>A (p.Met1337Lys) c.3971T>A (p.Met1324Lys) c.3920T>A (p.Met1307Lys) c.1052T>A (p.Met351Lys) | |
| 18 | g.33743936T>C | CA402189958 | ASXL3 | c.4091T>C (p.Met1364Thr) c.4088T>C (p.Met1363Thr) c.3968T>C (p.Met1323Thr) c.4064T>C (p.Met1355Thr) c.4010T>C (p.Met1337Thr) c.3971T>C (p.Met1324Thr) c.3920T>C (p.Met1307Thr) c.1052T>C (p.Met351Thr) | dbSNP gnomAD v4 |
| 18 | g.33743936T>G | CA402189955 | ASXL3 | c.4091T>G (p.Met1364Arg) c.4088T>G (p.Met1363Arg) c.3968T>G (p.Met1323Arg) c.4064T>G (p.Met1355Arg) c.4010T>G (p.Met1337Arg) c.3971T>G (p.Met1324Arg) c.3920T>G (p.Met1307Arg) c.1052T>G (p.Met351Arg) | |
| 18 | g.33743937G>A | CA402189962 | ASXL3 | c.4092G>A (p.Met1364Ile) c.4089G>A (p.Met1363Ile) c.3969G>A (p.Met1323Ile) c.4065G>A (p.Met1355Ile) c.4011G>A (p.Met1337Ile) c.3972G>A (p.Met1324Ile) c.3921G>A (p.Met1307Ile) c.1053G>A (p.Met351Ile) | COSMIC |
| 18 | g.33743937G>C | CA402189963 | ASXL3 | c.4092G>C (p.Met1364Ile) c.4089G>C (p.Met1363Ile) c.3969G>C (p.Met1323Ile) c.4065G>C (p.Met1355Ile) c.4011G>C (p.Met1337Ile) c.3972G>C (p.Met1324Ile) c.3921G>C (p.Met1307Ile) c.1053G>C (p.Met351Ile) | |
| 18 | g.33743937G>T | CA402189965 | ASXL3 | c.4092G>T (p.Met1364Ile) c.4089G>T (p.Met1363Ile) c.3969G>T (p.Met1323Ile) c.4065G>T (p.Met1355Ile) c.4011G>T (p.Met1337Ile) c.3972G>T (p.Met1324Ile) c.3921G>T (p.Met1307Ile) c.1053G>T (p.Met351Ile) | |
| 18 | g.33743938G>A | CA402189968 | ASXL3 | c.4093G>A (p.Gly1365Arg) c.4090G>A (p.Gly1364Arg) c.3970G>A (p.Gly1324Arg) c.4066G>A (p.Gly1356Arg) c.4012G>A (p.Gly1338Arg) c.3973G>A (p.Gly1325Arg) c.3922G>A (p.Gly1308Arg) c.1054G>A (p.Gly352Arg) | |
| 18 | g.33743938G>C | CA402189970 | ASXL3 | c.4093G>C (p.Gly1365Arg) c.4090G>C (p.Gly1364Arg) c.3970G>C (p.Gly1324Arg) c.4066G>C (p.Gly1356Arg) c.4012G>C (p.Gly1338Arg) c.3973G>C (p.Gly1325Arg) c.3922G>C (p.Gly1308Arg) c.1054G>C (p.Gly352Arg) | |
| 18 | g.33743938G>T | CA402189973 | ASXL3 | c.4093G>T (p.Gly1365Ter) c.4090G>T (p.Gly1364Ter) c.3970G>T (p.Gly1324Ter) c.4066G>T (p.Gly1356Ter) c.4012G>T (p.Gly1338Ter) c.3973G>T (p.Gly1325Ter) c.3922G>T (p.Gly1308Ter) c.1054G>T (p.Gly352Ter) | |
| 18 | g.33743939G>A | CA402189976 | ASXL3 | c.4094G>A (p.Gly1365Glu) c.4091G>A (p.Gly1364Glu) c.3971G>A (p.Gly1324Glu) c.4067G>A (p.Gly1356Glu) c.4013G>A (p.Gly1338Glu) c.3974G>A (p.Gly1325Glu) c.3923G>A (p.Gly1308Glu) c.1055G>A (p.Gly352Glu) | |
| 18 | g.33743939G>C | CA402189977 | ASXL3 | c.4094G>C (p.Gly1365Ala) c.4091G>C (p.Gly1364Ala) c.3971G>C (p.Gly1324Ala) c.4067G>C (p.Gly1356Ala) c.4013G>C (p.Gly1338Ala) c.3974G>C (p.Gly1325Ala) c.3923G>C (p.Gly1308Ala) c.1055G>C (p.Gly352Ala) | |
| 18 | g.33743939G>T | CA402189979 | ASXL3 | c.4094G>T (p.Gly1365Val) c.4091G>T (p.Gly1364Val) c.3971G>T (p.Gly1324Val) c.4067G>T (p.Gly1356Val) c.4013G>T (p.Gly1338Val) c.3974G>T (p.Gly1325Val) c.3923G>T (p.Gly1308Val) c.1055G>T (p.Gly352Val) | |
| 18 | g.33743940A>C | CA503770652 | ASXL3 | c.4095A>C (p.Gly1365=) c.4092A>C (p.Gly1364=) c.3972A>C (p.Gly1324=) c.4068A>C (p.Gly1356=) c.4014A>C (p.Gly1338=) c.3975A>C (p.Gly1325=) c.3924A>C (p.Gly1308=) c.1056A>C (p.Gly352=) | |
| 18 | g.33743940A>G | CA503770653 | ASXL3 | c.4095A>G (p.Gly1365=) c.4092A>G (p.Gly1364=) c.3972A>G (p.Gly1324=) c.4068A>G (p.Gly1356=) c.4014A>G (p.Gly1338=) c.3975A>G (p.Gly1325=) c.3924A>G (p.Gly1308=) c.1056A>G (p.Gly352=) | |
| 18 | g.33743940A>T | CA503770650 | ASXL3 | c.4095A>T (p.Gly1365=) c.4092A>T (p.Gly1364=) c.3972A>T (p.Gly1324=) c.4068A>T (p.Gly1356=) c.4014A>T (p.Gly1338=) c.3975A>T (p.Gly1325=) c.3924A>T (p.Gly1308=) c.1056A>T (p.Gly352=) | |
| 18 | g.33743942_33743945dup | CA2641457824 | ASXL3 | c.4097_4100dup (p.Asn1368Ter) c.4094_4097dup (p.Asn1367Ter) c.3974_3977dup (p.Asn1327Ter) c.4070_4073dup (p.Asn1359Ter) c.4016_4019dup (p.Asn1341Ter) c.3977_3980dup (p.Asn1328Ter) c.3926_3929dup (p.Asn1311Ter) c.1058_1061dup (p.Asn355Ter) | gnomAD v4 |
| 18 | g.33743941A= | CA2294857913 | ASXL3 | c.4096A= (p.Ile1366=) c.4093A= (p.Ile1365=) c.3973A= (p.Ile1325=) c.4069A= (p.Ile1357=) c.4015A= (p.Ile1339=) c.3976A= (p.Ile1326=) c.3925A= (p.Ile1309=) c.1057A= (p.Ile353=) | |
| 18 | g.33743941A>C | CA402189981 | ASXL3 | c.4096A>C (p.Ile1366Leu) c.4093A>C (p.Ile1365Leu) c.3973A>C (p.Ile1325Leu) c.4069A>C (p.Ile1357Leu) c.4015A>C (p.Ile1339Leu) c.3976A>C (p.Ile1326Leu) c.3925A>C (p.Ile1309Leu) c.1057A>C (p.Ile353Leu) | |
| 18 | g.33743941A>G | CA8934171 | ASXL3 | c.4096A>G (p.Ile1366Val) c.4093A>G (p.Ile1365Val) c.3973A>G (p.Ile1325Val) c.4069A>G (p.Ile1357Val) c.4015A>G (p.Ile1339Val) c.3976A>G (p.Ile1326Val) c.3925A>G (p.Ile1309Val) c.1057A>G (p.Ile353Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743941A>T | CA402189985 | ASXL3 | c.4096A>T (p.Ile1366Phe) c.4093A>T (p.Ile1365Phe) c.3973A>T (p.Ile1325Phe) c.4069A>T (p.Ile1357Phe) c.4015A>T (p.Ile1339Phe) c.3976A>T (p.Ile1326Phe) c.3925A>T (p.Ile1309Phe) c.1057A>T (p.Ile353Phe) | |
| 18 | g.33743942T>A | CA402189992 | ASXL3 | c.4097T>A (p.Ile1366Asn) c.4094T>A (p.Ile1365Asn) c.3974T>A (p.Ile1325Asn) c.4070T>A (p.Ile1357Asn) c.4016T>A (p.Ile1339Asn) c.3977T>A (p.Ile1326Asn) c.3926T>A (p.Ile1309Asn) c.1058T>A (p.Ile353Asn) | |
| 18 | g.33743942T>C | CA402189988 | ASXL3 | c.4097T>C (p.Ile1366Thr) c.4094T>C (p.Ile1365Thr) c.3974T>C (p.Ile1325Thr) c.4070T>C (p.Ile1357Thr) c.4016T>C (p.Ile1339Thr) c.3977T>C (p.Ile1326Thr) c.3926T>C (p.Ile1309Thr) c.1058T>C (p.Ile353Thr) | |
| 18 | g.33743942T>G | CA402189990 | ASXL3 | c.4097T>G (p.Ile1366Ser) c.4094T>G (p.Ile1365Ser) c.3974T>G (p.Ile1325Ser) c.4070T>G (p.Ile1357Ser) c.4016T>G (p.Ile1339Ser) c.3977T>G (p.Ile1326Ser) c.3926T>G (p.Ile1309Ser) c.1058T>G (p.Ile353Ser) | |
| 18 | g.33743943T>A | CA503770659 | ASXL3 | c.4098T>A (p.Ile1366=) c.4095T>A (p.Ile1365=) c.3975T>A (p.Ile1325=) c.4071T>A (p.Ile1357=) c.4017T>A (p.Ile1339=) c.3978T>A (p.Ile1326=) c.3927T>A (p.Ile1309=) c.1059T>A (p.Ile353=) | |
| 18 | g.33743943T>C | CA503770660 | ASXL3 | c.4098T>C (p.Ile1366=) c.4095T>C (p.Ile1365=) c.3975T>C (p.Ile1325=) c.4071T>C (p.Ile1357=) c.4017T>C (p.Ile1339=) c.3978T>C (p.Ile1326=) c.3927T>C (p.Ile1309=) c.1059T>C (p.Ile353=) | |
| 18 | g.33743943T>G | CA402189995 | ASXL3 | c.4098T>G (p.Ile1366Met) c.4095T>G (p.Ile1365Met) c.3975T>G (p.Ile1325Met) c.4071T>G (p.Ile1357Met) c.4017T>G (p.Ile1339Met) c.3978T>G (p.Ile1326Met) c.3927T>G (p.Ile1309Met) c.1059T>G (p.Ile353Met) | |
| 18 | g.33743943_33743946delinsTAAC | CA2294857914 | ASXL3 | c.4098_4101delinsTAAC (p.Ile1366=) c.4095_4098delinsTAAC (p.Ile1365=) c.3975_3978delinsTAAC (p.Ile1325=) c.4071_4074delinsTAAC (p.Ile1357=) c.4017_4020delinsTAAC (p.Ile1339=) c.3978_3981delinsTAAC (p.Ile1326=) c.3927_3930delinsTAAC (p.Ile1309=) c.1059_1062delinsTAAC (p.Ile353=) | |
| 18 | g.33743944A>C | CA402189998 | ASXL3 | c.4099A>C (p.Asn1367His) c.4096A>C (p.Asn1366His) c.3976A>C (p.Asn1326His) c.4072A>C (p.Asn1358His) c.4018A>C (p.Asn1340His) c.3979A>C (p.Asn1327His) c.3928A>C (p.Asn1310His) c.1060A>C (p.Asn354His) | |
| 18 | g.33743944A>G | CA402190000 | ASXL3 | c.4099A>G (p.Asn1367Asp) c.4096A>G (p.Asn1366Asp) c.3976A>G (p.Asn1326Asp) c.4072A>G (p.Asn1358Asp) c.4018A>G (p.Asn1340Asp) c.3979A>G (p.Asn1327Asp) c.3928A>G (p.Asn1310Asp) c.1060A>G (p.Asn354Asp) | |
| 18 | g.33743944A>T | CA402190001 | ASXL3 | c.4099A>T (p.Asn1367Tyr) c.4096A>T (p.Asn1366Tyr) c.3976A>T (p.Asn1326Tyr) c.4072A>T (p.Asn1358Tyr) c.4018A>T (p.Asn1340Tyr) c.3979A>T (p.Asn1327Tyr) c.3928A>T (p.Asn1310Tyr) c.1060A>T (p.Asn354Tyr) | |
| 18 | g.33743948_33743950del | CA8934172 | ASXL3 | c.4103_4105del (p.Asn1368del) c.4100_4102del (p.Asn1367del) c.3980_3982del (p.Asn1327del) c.4076_4078del (p.Asn1359del) c.4022_4024del (p.Asn1341del) c.3983_3985del (p.Asn1328del) c.3932_3934del (p.Asn1311del) c.1064_1066del (p.Asn355del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743945A= | CA2294857915 | ASXL3 | c.4100A= (p.Asn1367=) c.4097A= (p.Asn1366=) c.3977A= (p.Asn1326=) c.4073A= (p.Asn1358=) c.4019A= (p.Asn1340=) c.3980A= (p.Asn1327=) c.3929A= (p.Asn1310=) c.1061A= (p.Asn354=) | |
| 18 | g.33743945A>C | CA402190005 | ASXL3 | c.4100A>C (p.Asn1367Thr) c.4097A>C (p.Asn1366Thr) c.3977A>C (p.Asn1326Thr) c.4073A>C (p.Asn1358Thr) c.4019A>C (p.Asn1340Thr) c.3980A>C (p.Asn1327Thr) c.3929A>C (p.Asn1310Thr) c.1061A>C (p.Asn354Thr) | |
| 18 | g.33743945A>G | CA402190007 | ASXL3 | c.4100A>G (p.Asn1367Ser) c.4097A>G (p.Asn1366Ser) c.3977A>G (p.Asn1326Ser) c.4073A>G (p.Asn1358Ser) c.4019A>G (p.Asn1340Ser) c.3980A>G (p.Asn1327Ser) c.3929A>G (p.Asn1310Ser) c.1061A>G (p.Asn354Ser) | gnomAD v4 |
| 18 | g.33743945A>T | CA402190009 | ASXL3 | c.4100A>T (p.Asn1367Ile) c.4097A>T (p.Asn1366Ile) c.3977A>T (p.Asn1326Ile) c.4073A>T (p.Asn1358Ile) c.4019A>T (p.Asn1340Ile) c.3980A>T (p.Asn1327Ile) c.3929A>T (p.Asn1310Ile) c.1061A>T (p.Asn354Ile) | ClinVar dbSNP gnomAD v4 |
| 18 | g.33743946C>A | CA8934173 | ASXL3 | c.4101C>A (p.Asn1367Lys) c.4098C>A (p.Asn1366Lys) c.3978C>A (p.Asn1326Lys) c.4074C>A (p.Asn1358Lys) c.4020C>A (p.Asn1340Lys) c.3981C>A (p.Asn1327Lys) c.3930C>A (p.Asn1310Lys) c.1062C>A (p.Asn354Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743946C= | CA2294857916 | ASXL3 | c.4101C= (p.Asn1367=) c.4098C= (p.Asn1366=) c.3978C= (p.Asn1326=) c.4074C= (p.Asn1358=) c.4020C= (p.Asn1340=) c.3981C= (p.Asn1327=) c.3930C= (p.Asn1310=) c.1062C= (p.Asn354=) | |
| 18 | g.33743946C>G | CA402190014 | ASXL3 | c.4101C>G (p.Asn1367Lys) c.4098C>G (p.Asn1366Lys) c.3978C>G (p.Asn1326Lys) c.4074C>G (p.Asn1358Lys) c.4020C>G (p.Asn1340Lys) c.3981C>G (p.Asn1327Lys) c.3930C>G (p.Asn1310Lys) c.1062C>G (p.Asn354Lys) | |
| 18 | g.33743946C>T | CA503770672 | ASXL3 | c.4101C>T (p.Asn1367=) c.4098C>T (p.Asn1366=) c.3978C>T (p.Asn1326=) c.4074C>T (p.Asn1358=) c.4020C>T (p.Asn1340=) c.3981C>T (p.Asn1327=) c.3930C>T (p.Asn1310=) c.1062C>T (p.Asn354=) | gnomAD v4 |
| 18 | g.33743947A>C | CA402190021 | ASXL3 | c.4102A>C (p.Asn1368His) c.4099A>C (p.Asn1367His) c.3979A>C (p.Asn1327His) c.4075A>C (p.Asn1359His) c.4021A>C (p.Asn1341His) c.3982A>C (p.Asn1328His) c.3931A>C (p.Asn1311His) c.1063A>C (p.Asn355His) | |
| 18 | g.33743947A>G | CA402190019 | ASXL3 | c.4102A>G (p.Asn1368Asp) c.4099A>G (p.Asn1367Asp) c.3979A>G (p.Asn1327Asp) c.4075A>G (p.Asn1359Asp) c.4021A>G (p.Asn1341Asp) c.3982A>G (p.Asn1328Asp) c.3931A>G (p.Asn1311Asp) c.1063A>G (p.Asn355Asp) | |
| 18 | g.33743947A>T | CA402190017 | ASXL3 | c.4102A>T (p.Asn1368Tyr) c.4099A>T (p.Asn1367Tyr) c.3979A>T (p.Asn1327Tyr) c.4075A>T (p.Asn1359Tyr) c.4021A>T (p.Asn1341Tyr) c.3982A>T (p.Asn1328Tyr) c.3931A>T (p.Asn1311Tyr) c.1063A>T (p.Asn355Tyr) | |
| 18 | g.33743948A>C | CA402190024 | ASXL3 | c.4103A>C (p.Asn1368Thr) c.4100A>C (p.Asn1367Thr) c.3980A>C (p.Asn1327Thr) c.4076A>C (p.Asn1359Thr) c.4022A>C (p.Asn1341Thr) c.3983A>C (p.Asn1328Thr) c.3932A>C (p.Asn1311Thr) c.1064A>C (p.Asn355Thr) | |
| 18 | g.33743948A>G | CA402190026 | ASXL3 | c.4103A>G (p.Asn1368Ser) c.4100A>G (p.Asn1367Ser) c.3980A>G (p.Asn1327Ser) c.4076A>G (p.Asn1359Ser) c.4022A>G (p.Asn1341Ser) c.3983A>G (p.Asn1328Ser) c.3932A>G (p.Asn1311Ser) c.1064A>G (p.Asn355Ser) | |
| 18 | g.33743948A>T | CA402190028 | ASXL3 | c.4103A>T (p.Asn1368Ile) c.4100A>T (p.Asn1367Ile) c.3980A>T (p.Asn1327Ile) c.4076A>T (p.Asn1359Ile) c.4022A>T (p.Asn1341Ile) c.3983A>T (p.Asn1328Ile) c.3932A>T (p.Asn1311Ile) c.1064A>T (p.Asn355Ile) | |
| 18 | g.33743949C>A | CA402190030 | ASXL3 | c.4104C>A (p.Asn1368Lys) c.4101C>A (p.Asn1367Lys) c.3981C>A (p.Asn1327Lys) c.4077C>A (p.Asn1359Lys) c.4023C>A (p.Asn1341Lys) c.3984C>A (p.Asn1328Lys) c.3933C>A (p.Asn1311Lys) c.1065C>A (p.Asn355Lys) | |
| 18 | g.33743949C= | CA2294857917 | ASXL3 | c.4104C= (p.Asn1368=) c.4101C= (p.Asn1367=) c.3981C= (p.Asn1327=) c.4077C= (p.Asn1359=) c.4023C= (p.Asn1341=) c.3984C= (p.Asn1328=) c.3933C= (p.Asn1311=) c.1065C= (p.Asn355=) | |
| 18 | g.33743949C>G | CA402190032 | ASXL3 | c.4104C>G (p.Asn1368Lys) c.4101C>G (p.Asn1367Lys) c.3981C>G (p.Asn1327Lys) c.4077C>G (p.Asn1359Lys) c.4023C>G (p.Asn1341Lys) c.3984C>G (p.Asn1328Lys) c.3933C>G (p.Asn1311Lys) c.1065C>G (p.Asn355Lys) | |
| 18 | g.33743949C>T | CA503770678 | ASXL3 | c.4104C>T (p.Asn1368=) c.4101C>T (p.Asn1367=) c.3981C>T (p.Asn1327=) c.4077C>T (p.Asn1359=) c.4023C>T (p.Asn1341=) c.3984C>T (p.Asn1328=) c.3933C>T (p.Asn1311=) c.1065C>T (p.Asn355=) | dbSNP |
| 18 | g.33743950A>C | CA503770679 | ASXL3 | c.4105A>C (p.Arg1369=) c.4102A>C (p.Arg1368=) c.3982A>C (p.Arg1328=) c.4078A>C (p.Arg1360=) c.4024A>C (p.Arg1342=) c.3985A>C (p.Arg1329=) c.3934A>C (p.Arg1312=) c.1066A>C (p.Arg356=) | |
| 18 | g.33743950A>G | CA402190035 | ASXL3 | c.4105A>G (p.Arg1369Gly) c.4102A>G (p.Arg1368Gly) c.3982A>G (p.Arg1328Gly) c.4078A>G (p.Arg1360Gly) c.4024A>G (p.Arg1342Gly) c.3985A>G (p.Arg1329Gly) c.3934A>G (p.Arg1312Gly) c.1066A>G (p.Arg356Gly) | gnomAD v4 |
| 18 | g.33743950A>T | CA402190037 | ASXL3 | c.4105A>T (p.Arg1369Ter) c.4102A>T (p.Arg1368Ter) c.3982A>T (p.Arg1328Ter) c.4078A>T (p.Arg1360Ter) c.4024A>T (p.Arg1342Ter) c.3985A>T (p.Arg1329Ter) c.3934A>T (p.Arg1312Ter) c.1066A>T (p.Arg356Ter) | |
| 18 | g.33743951G>A | CA402190044 | ASXL3 | c.4106G>A (p.Arg1369Lys) c.4103G>A (p.Arg1368Lys) c.3983G>A (p.Arg1328Lys) c.4079G>A (p.Arg1360Lys) c.4025G>A (p.Arg1342Lys) c.3986G>A (p.Arg1329Lys) c.3935G>A (p.Arg1312Lys) c.1067G>A (p.Arg356Lys) | COSMIC |
| 18 | g.33743951G>C | CA402190040 | ASXL3 | c.4106G>C (p.Arg1369Thr) c.4103G>C (p.Arg1368Thr) c.3983G>C (p.Arg1328Thr) c.4079G>C (p.Arg1360Thr) c.4025G>C (p.Arg1342Thr) c.3986G>C (p.Arg1329Thr) c.3935G>C (p.Arg1312Thr) c.1067G>C (p.Arg356Thr) | |
| 18 | g.33743951G>T | CA402190041 | ASXL3 | c.4106G>T (p.Arg1369Ile) c.4103G>T (p.Arg1368Ile) c.3983G>T (p.Arg1328Ile) c.4079G>T (p.Arg1360Ile) c.4025G>T (p.Arg1342Ile) c.3986G>T (p.Arg1329Ile) c.3935G>T (p.Arg1312Ile) c.1067G>T (p.Arg356Ile) | gnomAD v4 |
| 18 | g.33743952A>C | CA402190046 | ASXL3 | c.4107A>C (p.Arg1369Ser) c.4104A>C (p.Arg1368Ser) c.3984A>C (p.Arg1328Ser) c.4080A>C (p.Arg1360Ser) c.4026A>C (p.Arg1342Ser) c.3987A>C (p.Arg1329Ser) c.3936A>C (p.Arg1312Ser) c.1068A>C (p.Arg356Ser) | |
| 18 | g.33743952A>G | CA503770685 | ASXL3 | c.4107A>G (p.Arg1369=) c.4104A>G (p.Arg1368=) c.3984A>G (p.Arg1328=) c.4080A>G (p.Arg1360=) c.4026A>G (p.Arg1342=) c.3987A>G (p.Arg1329=) c.3936A>G (p.Arg1312=) c.1068A>G (p.Arg356=) | |
| 18 | g.33743952A>T | CA402190048 | ASXL3 | c.4107A>T (p.Arg1369Ser) c.4104A>T (p.Arg1368Ser) c.3984A>T (p.Arg1328Ser) c.4080A>T (p.Arg1360Ser) c.4026A>T (p.Arg1342Ser) c.3987A>T (p.Arg1329Ser) c.3936A>T (p.Arg1312Ser) c.1068A>T (p.Arg356Ser) | |
| 18 | g.33743953T>A | CA402190051 | ASXL3 | c.4108T>A (p.Phe1370Ile) c.4105T>A (p.Phe1369Ile) c.3985T>A (p.Phe1329Ile) c.4081T>A (p.Phe1361Ile) c.4027T>A (p.Phe1343Ile) c.3988T>A (p.Phe1330Ile) c.3937T>A (p.Phe1313Ile) c.1069T>A (p.Phe357Ile) | |
| 18 | g.33743953T>C | CA402190053 | ASXL3 | c.4108T>C (p.Phe1370Leu) c.4105T>C (p.Phe1369Leu) c.3985T>C (p.Phe1329Leu) c.4081T>C (p.Phe1361Leu) c.4027T>C (p.Phe1343Leu) c.3988T>C (p.Phe1330Leu) c.3937T>C (p.Phe1313Leu) c.1069T>C (p.Phe357Leu) | |
| 18 | g.33743953T>G | CA402190055 | ASXL3 | c.4108T>G (p.Phe1370Val) c.4105T>G (p.Phe1369Val) c.3985T>G (p.Phe1329Val) c.4081T>G (p.Phe1361Val) c.4027T>G (p.Phe1343Val) c.3988T>G (p.Phe1330Val) c.3937T>G (p.Phe1313Val) c.1069T>G (p.Phe357Val) | |
| 18 | g.33743954T>A | CA402190058 | ASXL3 | c.4109T>A (p.Phe1370Tyr) c.4106T>A (p.Phe1369Tyr) c.3986T>A (p.Phe1329Tyr) c.4082T>A (p.Phe1361Tyr) c.4028T>A (p.Phe1343Tyr) c.3989T>A (p.Phe1330Tyr) c.3938T>A (p.Phe1313Tyr) c.1070T>A (p.Phe357Tyr) | |
| 18 | g.33743954T>C | CA402190063 | ASXL3 | c.4109T>C (p.Phe1370Ser) c.4106T>C (p.Phe1369Ser) c.3986T>C (p.Phe1329Ser) c.4082T>C (p.Phe1361Ser) c.4028T>C (p.Phe1343Ser) c.3989T>C (p.Phe1330Ser) c.3938T>C (p.Phe1313Ser) c.1070T>C (p.Phe357Ser) | |
| 18 | g.33743954T>G | CA402190061 | ASXL3 | c.4109T>G (p.Phe1370Cys) c.4106T>G (p.Phe1369Cys) c.3986T>G (p.Phe1329Cys) c.4082T>G (p.Phe1361Cys) c.4028T>G (p.Phe1343Cys) c.3989T>G (p.Phe1330Cys) c.3938T>G (p.Phe1313Cys) c.1070T>G (p.Phe357Cys) | |
| 18 | g.33743955T>A | CA402190066 | ASXL3 | c.4110T>A (p.Phe1370Leu) c.4107T>A (p.Phe1369Leu) c.3987T>A (p.Phe1329Leu) c.4083T>A (p.Phe1361Leu) c.4029T>A (p.Phe1343Leu) c.3990T>A (p.Phe1330Leu) c.3939T>A (p.Phe1313Leu) c.1071T>A (p.Phe357Leu) | |
| 18 | g.33743955T>C | CA503770689 | ASXL3 | c.4110T>C (p.Phe1370=) c.4107T>C (p.Phe1369=) c.3987T>C (p.Phe1329=) c.4083T>C (p.Phe1361=) c.4029T>C (p.Phe1343=) c.3990T>C (p.Phe1330=) c.3939T>C (p.Phe1313=) c.1071T>C (p.Phe357=) | |
| 18 | g.33743955T>G | CA402190068 | ASXL3 | c.4110T>G (p.Phe1370Leu) c.4107T>G (p.Phe1369Leu) c.3987T>G (p.Phe1329Leu) c.4083T>G (p.Phe1361Leu) c.4029T>G (p.Phe1343Leu) c.3990T>G (p.Phe1330Leu) c.3939T>G (p.Phe1313Leu) c.1071T>G (p.Phe357Leu) | gnomAD v4 |
| 18 | g.33743956C>A | CA402190071 | ASXL3 | c.4111C>A (p.Pro1371Thr) c.4108C>A (p.Pro1370Thr) c.3988C>A (p.Pro1330Thr) c.4084C>A (p.Pro1362Thr) c.4030C>A (p.Pro1344Thr) c.3991C>A (p.Pro1331Thr) c.3940C>A (p.Pro1314Thr) c.1072C>A (p.Pro358Thr) | |
| 18 | g.33743956C= | CA2294857918 | ASXL3 | c.4111C= (p.Pro1371=) c.4108C= (p.Pro1370=) c.3988C= (p.Pro1330=) c.4084C= (p.Pro1362=) c.4030C= (p.Pro1344=) c.3991C= (p.Pro1331=) c.3940C= (p.Pro1314=) c.1072C= (p.Pro358=) | |
| 18 | g.33743956C>G | CA402190073 | ASXL3 | c.4111C>G (p.Pro1371Ala) c.4108C>G (p.Pro1370Ala) c.3988C>G (p.Pro1330Ala) c.4084C>G (p.Pro1362Ala) c.4030C>G (p.Pro1344Ala) c.3991C>G (p.Pro1331Ala) c.3940C>G (p.Pro1314Ala) c.1072C>G (p.Pro358Ala) | |
| 18 | g.33743956C>T | CA402190075 | ASXL3 | c.4111C>T (p.Pro1371Ser) c.4108C>T (p.Pro1370Ser) c.3988C>T (p.Pro1330Ser) c.4084C>T (p.Pro1362Ser) c.4030C>T (p.Pro1344Ser) c.3991C>T (p.Pro1331Ser) c.3940C>T (p.Pro1314Ser) c.1072C>T (p.Pro358Ser) | dbSNP COSMIC |
| 18 | g.33743957C>A | CA402190078 | ASXL3 | c.4112C>A (p.Pro1371His) c.4109C>A (p.Pro1370His) c.3989C>A (p.Pro1330His) c.4085C>A (p.Pro1362His) c.4031C>A (p.Pro1344His) c.3992C>A (p.Pro1331His) c.3941C>A (p.Pro1314His) c.1073C>A (p.Pro358His) | |
| 18 | g.33743957C>G | CA402190080 | ASXL3 | c.4112C>G (p.Pro1371Arg) c.4109C>G (p.Pro1370Arg) c.3989C>G (p.Pro1330Arg) c.4085C>G (p.Pro1362Arg) c.4031C>G (p.Pro1344Arg) c.3992C>G (p.Pro1331Arg) c.3941C>G (p.Pro1314Arg) c.1073C>G (p.Pro358Arg) | |
| 18 | g.33743957C>T | CA402190082 | ASXL3 | c.4112C>T (p.Pro1371Leu) c.4109C>T (p.Pro1370Leu) c.3989C>T (p.Pro1330Leu) c.4085C>T (p.Pro1362Leu) c.4031C>T (p.Pro1344Leu) c.3992C>T (p.Pro1331Leu) c.3941C>T (p.Pro1314Leu) c.1073C>T (p.Pro358Leu) | gnomAD v4 |
| 18 | g.33743958T>A | CA503769896 | ASXL3 | c.4113T>A (p.Pro1371=) c.4110T>A (p.Pro1370=) c.3990T>A (p.Pro1330=) c.4086T>A (p.Pro1362=) c.4032T>A (p.Pro1344=) c.3993T>A (p.Pro1331=) c.3942T>A (p.Pro1314=) c.1074T>A (p.Pro358=) | |
| 18 | g.33743958T>C | CA503769897 | ASXL3 | c.4113T>C (p.Pro1371=) c.4110T>C (p.Pro1370=) c.3990T>C (p.Pro1330=) c.4086T>C (p.Pro1362=) c.4032T>C (p.Pro1344=) c.3993T>C (p.Pro1331=) c.3942T>C (p.Pro1314=) c.1074T>C (p.Pro358=) | |
| 18 | g.33743958T>G | CA503769898 | ASXL3 | c.4113T>G (p.Pro1371=) c.4110T>G (p.Pro1370=) c.3990T>G (p.Pro1330=) c.4086T>G (p.Pro1362=) c.4032T>G (p.Pro1344=) c.3993T>G (p.Pro1331=) c.3942T>G (p.Pro1314=) c.1074T>G (p.Pro358=) | |
| 18 | g.33743959T>A | CA402190085 | ASXL3 | c.4114T>A (p.Ser1372Thr) c.4111T>A (p.Ser1371Thr) c.3991T>A (p.Ser1331Thr) c.4087T>A (p.Ser1363Thr) c.4033T>A (p.Ser1345Thr) c.3994T>A (p.Ser1332Thr) c.3943T>A (p.Ser1315Thr) c.1075T>A (p.Ser359Thr) | |
| 18 | g.33743959T>C | CA402190086 | ASXL3 | c.4114T>C (p.Ser1372Pro) c.4111T>C (p.Ser1371Pro) c.3991T>C (p.Ser1331Pro) c.4087T>C (p.Ser1363Pro) c.4033T>C (p.Ser1345Pro) c.3994T>C (p.Ser1332Pro) c.3943T>C (p.Ser1315Pro) c.1075T>C (p.Ser359Pro) | |
| 18 | g.33743959T>G | CA402190088 | ASXL3 | c.4114T>G (p.Ser1372Ala) c.4111T>G (p.Ser1371Ala) c.3991T>G (p.Ser1331Ala) c.4087T>G (p.Ser1363Ala) c.4033T>G (p.Ser1345Ala) c.3994T>G (p.Ser1332Ala) c.3943T>G (p.Ser1315Ala) c.1075T>G (p.Ser359Ala) | |
| 18 | g.33743960C>A | CA402190091 | ASXL3 | c.4115C>A (p.Ser1372Tyr) c.4112C>A (p.Ser1371Tyr) c.3992C>A (p.Ser1331Tyr) c.4088C>A (p.Ser1363Tyr) c.4034C>A (p.Ser1345Tyr) c.3995C>A (p.Ser1332Tyr) c.3944C>A (p.Ser1315Tyr) c.1076C>A (p.Ser359Tyr) | dbSNP |
| 18 | g.33743960C= | CA2294857919 | ASXL3 | c.4115C= (p.Ser1372=) c.4112C= (p.Ser1371=) c.3992C= (p.Ser1331=) c.4088C= (p.Ser1363=) c.4034C= (p.Ser1345=) c.3995C= (p.Ser1332=) c.3944C= (p.Ser1315=) c.1076C= (p.Ser359=) | |
| 18 | g.33743960C>G | CA402190095 | ASXL3 | c.4115C>G (p.Ser1372Cys) c.4112C>G (p.Ser1371Cys) c.3992C>G (p.Ser1331Cys) c.4088C>G (p.Ser1363Cys) c.4034C>G (p.Ser1345Cys) c.3995C>G (p.Ser1332Cys) c.3944C>G (p.Ser1315Cys) c.1076C>G (p.Ser359Cys) | |
| 18 | g.33743960C>T | CA402190093 | ASXL3 | c.4115C>T (p.Ser1372Phe) c.4112C>T (p.Ser1371Phe) c.3992C>T (p.Ser1331Phe) c.4088C>T (p.Ser1363Phe) c.4034C>T (p.Ser1345Phe) c.3995C>T (p.Ser1332Phe) c.3944C>T (p.Ser1315Phe) c.1076C>T (p.Ser359Phe) | dbSNP |
| 18 | g.33743961T>A | CA503769907 | ASXL3 | c.4116T>A (p.Ser1372=) c.4113T>A (p.Ser1371=) c.3993T>A (p.Ser1331=) c.4089T>A (p.Ser1363=) c.4035T>A (p.Ser1345=) c.3996T>A (p.Ser1332=) c.3945T>A (p.Ser1315=) c.1077T>A (p.Ser359=) | |
| 18 | g.33743961T>C | CA503769908 | ASXL3 | c.4116T>C (p.Ser1372=) c.4113T>C (p.Ser1371=) c.3993T>C (p.Ser1331=) c.4089T>C (p.Ser1363=) c.4035T>C (p.Ser1345=) c.3996T>C (p.Ser1332=) c.3945T>C (p.Ser1315=) c.1077T>C (p.Ser359=) | |
| 18 | g.33743961T>G | CA503769906 | ASXL3 | c.4116T>G (p.Ser1372=) c.4113T>G (p.Ser1371=) c.3993T>G (p.Ser1331=) c.4089T>G (p.Ser1363=) c.4035T>G (p.Ser1345=) c.3996T>G (p.Ser1332=) c.3945T>G (p.Ser1315=) c.1077T>G (p.Ser359=) | |
| 18 | g.33743962G>A | CA402190099 | ASXL3 | c.4117G>A (p.Glu1373Lys) c.4114G>A (p.Glu1372Lys) c.3994G>A (p.Glu1332Lys) c.4090G>A (p.Glu1364Lys) c.4036G>A (p.Glu1346Lys) c.3997G>A (p.Glu1333Lys) c.3946G>A (p.Glu1316Lys) c.1078G>A (p.Glu360Lys) | |
| 18 | g.33743962G>C | CA402190100 | ASXL3 | c.4117G>C (p.Glu1373Gln) c.4114G>C (p.Glu1372Gln) c.3994G>C (p.Glu1332Gln) c.4090G>C (p.Glu1364Gln) c.4036G>C (p.Glu1346Gln) c.3997G>C (p.Glu1333Gln) c.3946G>C (p.Glu1316Gln) c.1078G>C (p.Glu360Gln) | |
| 18 | g.33743962G>T | CA402190101 | ASXL3 | c.4117G>T (p.Glu1373Ter) c.4114G>T (p.Glu1372Ter) c.3994G>T (p.Glu1332Ter) c.4090G>T (p.Glu1364Ter) c.4036G>T (p.Glu1346Ter) c.3997G>T (p.Glu1333Ter) c.3946G>T (p.Glu1316Ter) c.1078G>T (p.Glu360Ter) | |
| 18 | g.33743963A= | CA2294857920 | ASXL3 | c.4118A= (p.Glu1373=) c.4115A= (p.Glu1372=) c.3995A= (p.Glu1332=) c.4091A= (p.Glu1364=) c.4037A= (p.Glu1346=) c.3998A= (p.Glu1333=) c.3947A= (p.Glu1316=) c.1079A= (p.Glu360=) | |
| 18 | g.33743963A>C | CA402190105 | ASXL3 | c.4118A>C (p.Glu1373Ala) c.4115A>C (p.Glu1372Ala) c.3995A>C (p.Glu1332Ala) c.4091A>C (p.Glu1364Ala) c.4037A>C (p.Glu1346Ala) c.3998A>C (p.Glu1333Ala) c.3947A>C (p.Glu1316Ala) c.1079A>C (p.Glu360Ala) | |
| 18 | g.33743963A>G | CA402190107 | ASXL3 | c.4118A>G (p.Glu1373Gly) c.4115A>G (p.Glu1372Gly) c.3995A>G (p.Glu1332Gly) c.4091A>G (p.Glu1364Gly) c.4037A>G (p.Glu1346Gly) c.3998A>G (p.Glu1333Gly) c.3947A>G (p.Glu1316Gly) c.1079A>G (p.Glu360Gly) | |
| 18 | g.33743963A>T | CA402190109 | ASXL3 | c.4118A>T (p.Glu1373Val) c.4115A>T (p.Glu1372Val) c.3995A>T (p.Glu1332Val) c.4091A>T (p.Glu1364Val) c.4037A>T (p.Glu1346Val) c.3998A>T (p.Glu1333Val) c.3947A>T (p.Glu1316Val) c.1079A>T (p.Glu360Val) | dbSNP |
| 18 | g.33743964G>A | CA503769914 | ASXL3 | c.4119G>A (p.Glu1373=) c.4116G>A (p.Glu1372=) c.3996G>A (p.Glu1332=) c.4092G>A (p.Glu1364=) c.4038G>A (p.Glu1346=) c.3999G>A (p.Glu1333=) c.3948G>A (p.Glu1316=) c.1080G>A (p.Glu360=) | |
| 18 | g.33743964G>C | CA402190112 | ASXL3 | c.4119G>C (p.Glu1373Asp) c.4116G>C (p.Glu1372Asp) c.3996G>C (p.Glu1332Asp) c.4092G>C (p.Glu1364Asp) c.4038G>C (p.Glu1346Asp) c.3999G>C (p.Glu1333Asp) c.3948G>C (p.Glu1316Asp) c.1080G>C (p.Glu360Asp) | |
| 18 | g.33743964G>T | CA402190114 | ASXL3 | c.4119G>T (p.Glu1373Asp) c.4116G>T (p.Glu1372Asp) c.3996G>T (p.Glu1332Asp) c.4092G>T (p.Glu1364Asp) c.4038G>T (p.Glu1346Asp) c.3999G>T (p.Glu1333Asp) c.3948G>T (p.Glu1316Asp) c.1080G>T (p.Glu360Asp) | |
| 18 | g.33743965A= | CA2294857921 | ASXL3 | c.4120A= (p.Lys1374=) c.4117A= (p.Lys1373=) c.3997A= (p.Lys1333=) c.4093A= (p.Lys1365=) c.4039A= (p.Lys1347=) c.4000A= (p.Lys1334=) c.3949A= (p.Lys1317=) c.1081A= (p.Lys361=) | |
| 18 | g.33743965A>C | CA402190116 | ASXL3 | c.4120A>C (p.Lys1374Gln) c.4117A>C (p.Lys1373Gln) c.3997A>C (p.Lys1333Gln) c.4093A>C (p.Lys1365Gln) c.4039A>C (p.Lys1347Gln) c.4000A>C (p.Lys1334Gln) c.3949A>C (p.Lys1317Gln) c.1081A>C (p.Lys361Gln) | |
| 18 | g.33743965A>G | CA8934174 | ASXL3 | c.4120A>G (p.Lys1374Glu) c.4117A>G (p.Lys1373Glu) c.3997A>G (p.Lys1333Glu) c.4093A>G (p.Lys1365Glu) c.4039A>G (p.Lys1347Glu) c.4000A>G (p.Lys1334Glu) c.3949A>G (p.Lys1317Glu) c.1081A>G (p.Lys361Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743965A>T | CA402190119 | ASXL3 | c.4120A>T (p.Lys1374Ter) c.4117A>T (p.Lys1373Ter) c.3997A>T (p.Lys1333Ter) c.4093A>T (p.Lys1365Ter) c.4039A>T (p.Lys1347Ter) c.4000A>T (p.Lys1334Ter) c.3949A>T (p.Lys1317Ter) c.1081A>T (p.Lys361Ter) | |
| 18 | g.33743966A= | CA2294857922 | ASXL3 | c.4121A= (p.Lys1374=) c.4118A= (p.Lys1373=) c.3998A= (p.Lys1333=) c.4094A= (p.Lys1365=) c.4040A= (p.Lys1347=) c.4001A= (p.Lys1334=) c.3950A= (p.Lys1317=) c.1082A= (p.Lys361=) | |
| 18 | g.33743966A>C | CA402190127 | ASXL3 | c.4121A>C (p.Lys1374Thr) c.4118A>C (p.Lys1373Thr) c.3998A>C (p.Lys1333Thr) c.4094A>C (p.Lys1365Thr) c.4040A>C (p.Lys1347Thr) c.4001A>C (p.Lys1334Thr) c.3950A>C (p.Lys1317Thr) c.1082A>C (p.Lys361Thr) | |
| 18 | g.33743966A>G | CA402190125 | ASXL3 | c.4121A>G (p.Lys1374Arg) c.4118A>G (p.Lys1373Arg) c.3998A>G (p.Lys1333Arg) c.4094A>G (p.Lys1365Arg) c.4040A>G (p.Lys1347Arg) c.4001A>G (p.Lys1334Arg) c.3950A>G (p.Lys1317Arg) c.1082A>G (p.Lys361Arg) | |
| 18 | g.33743966A>T | CA402190123 | ASXL3 | c.4121A>T (p.Lys1374Met) c.4118A>T (p.Lys1373Met) c.3998A>T (p.Lys1333Met) c.4094A>T (p.Lys1365Met) c.4040A>T (p.Lys1347Met) c.4001A>T (p.Lys1334Met) c.3950A>T (p.Lys1317Met) c.1082A>T (p.Lys361Met) | |
| 18 | g.33743968_33743971dup | CA2499225137 | ASXL3 | c.4123_4126dup (p.Ala1376AspfsTer7) c.4120_4123dup (p.Ala1375AspfsTer7) c.4000_4003dup (p.Ala1335AspfsTer7) c.4096_4099dup (p.Ala1367AspfsTer7) c.4042_4045dup (p.Ala1349AspfsTer7) c.4003_4006dup (p.Ala1336AspfsTer7) c.3952_3955dup (p.Ala1319AspfsTer7) c.1084_1087dup (p.Ala363AspfsTer7) | ClinVar dbSNP |
| 18 | g.33743967G>A | CA503769924 | ASXL3 | c.4122G>A (p.Lys1374=) c.4119G>A (p.Lys1373=) c.3999G>A (p.Lys1333=) c.4095G>A (p.Lys1365=) c.4041G>A (p.Lys1347=) c.4002G>A (p.Lys1334=) c.3951G>A (p.Lys1317=) c.1083G>A (p.Lys361=) | |
| 18 | g.33743967G>C | CA402190132 | ASXL3 | c.4122G>C (p.Lys1374Asn) c.4119G>C (p.Lys1373Asn) c.3999G>C (p.Lys1333Asn) c.4095G>C (p.Lys1365Asn) c.4041G>C (p.Lys1347Asn) c.4002G>C (p.Lys1334Asn) c.3951G>C (p.Lys1317Asn) c.1083G>C (p.Lys361Asn) | |
| 18 | g.33743967G= | CA2294857923 | ASXL3 | c.4122G= (p.Lys1374=) c.4119G= (p.Lys1373=) c.3999G= (p.Lys1333=) c.4095G= (p.Lys1365=) c.4041G= (p.Lys1347=) c.4002G= (p.Lys1334=) c.3951G= (p.Lys1317=) c.1083G= (p.Lys361=) | |
| 18 | g.33743967G>T | CA8934176 | ASXL3 | c.4122G>T (p.Lys1374Asn) c.4119G>T (p.Lys1373Asn) c.3999G>T (p.Lys1333Asn) c.4095G>T (p.Lys1365Asn) c.4041G>T (p.Lys1347Asn) c.4002G>T (p.Lys1334Asn) c.3951G>T (p.Lys1317Asn) c.1083G>T (p.Lys361Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743967_33743969dup | CA8934175 | ASXL3 | c.4122_4124dup (p.Lys1374_Ile1375insMet) c.4119_4121dup (p.Lys1373_Ile1374insMet) c.3999_4001dup (p.Lys1333_Ile1334insMet) c.4095_4097dup (p.Lys1365_Ile1366insMet) c.4041_4043dup (p.Lys1347_Ile1348insMet) c.4002_4004dup (p.Lys1334_Ile1335insMet) c.3951_3953dup (p.Lys1317_Ile1318insMet) c.1083_1085dup (p.Lys361_Ile362insMet) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743968A>C | CA402190137 | ASXL3 | c.4123A>C (p.Ile1375Leu) c.4120A>C (p.Ile1374Leu) c.4000A>C (p.Ile1334Leu) c.4096A>C (p.Ile1366Leu) c.4042A>C (p.Ile1348Leu) c.4003A>C (p.Ile1335Leu) c.3952A>C (p.Ile1318Leu) c.1084A>C (p.Ile362Leu) | |
| 18 | g.33743968A>G | CA402190139 | ASXL3 | c.4123A>G (p.Ile1375Val) c.4120A>G (p.Ile1374Val) c.4000A>G (p.Ile1334Val) c.4096A>G (p.Ile1366Val) c.4042A>G (p.Ile1348Val) c.4003A>G (p.Ile1335Val) c.3952A>G (p.Ile1318Val) c.1084A>G (p.Ile362Val) | |
| 18 | g.33743968A>T | CA402190141 | ASXL3 | c.4123A>T (p.Ile1375Leu) c.4120A>T (p.Ile1374Leu) c.4000A>T (p.Ile1334Leu) c.4096A>T (p.Ile1366Leu) c.4042A>T (p.Ile1348Leu) c.4003A>T (p.Ile1335Leu) c.3952A>T (p.Ile1318Leu) c.1084A>T (p.Ile362Leu) | ClinVar dbSNP |
| 18 | g.33743969T>A | CA402190144 | ASXL3 | c.4124T>A (p.Ile1375Lys) c.4121T>A (p.Ile1374Lys) c.4001T>A (p.Ile1334Lys) c.4097T>A (p.Ile1366Lys) c.4043T>A (p.Ile1348Lys) c.4004T>A (p.Ile1335Lys) c.3953T>A (p.Ile1318Lys) c.1085T>A (p.Ile362Lys) | |
| 18 | g.33743969T>C | CA402190146 | ASXL3 | c.4124T>C (p.Ile1375Thr) c.4121T>C (p.Ile1374Thr) c.4001T>C (p.Ile1334Thr) c.4097T>C (p.Ile1366Thr) c.4043T>C (p.Ile1348Thr) c.4004T>C (p.Ile1335Thr) c.3953T>C (p.Ile1318Thr) c.1085T>C (p.Ile362Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743969T>G | CA8934177 | ASXL3 | c.4124T>G (p.Ile1375Arg) c.4121T>G (p.Ile1374Arg) c.4001T>G (p.Ile1334Arg) c.4097T>G (p.Ile1366Arg) c.4043T>G (p.Ile1348Arg) c.4004T>G (p.Ile1335Arg) c.3953T>G (p.Ile1318Arg) c.1085T>G (p.Ile362Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743969T= | CA2294857924 | ASXL3 | c.4124T= (p.Ile1375=) c.4121T= (p.Ile1374=) c.4001T= (p.Ile1334=) c.4097T= (p.Ile1366=) c.4043T= (p.Ile1348=) c.4004T= (p.Ile1335=) c.3953T= (p.Ile1318=) c.1085T= (p.Ile362=) | |
| 18 | g.33743970A>C | CA503769928 | ASXL3 | c.4125A>C (p.Ile1375=) c.4122A>C (p.Ile1374=) c.4002A>C (p.Ile1334=) c.4098A>C (p.Ile1366=) c.4044A>C (p.Ile1348=) c.4005A>C (p.Ile1335=) c.3954A>C (p.Ile1318=) c.1086A>C (p.Ile362=) | |
| 18 | g.33743970A>G | CA402190149 | ASXL3 | c.4125A>G (p.Ile1375Met) c.4122A>G (p.Ile1374Met) c.4002A>G (p.Ile1334Met) c.4098A>G (p.Ile1366Met) c.4044A>G (p.Ile1348Met) c.4005A>G (p.Ile1335Met) c.3954A>G (p.Ile1318Met) c.1086A>G (p.Ile362Met) | |
| 18 | g.33743970A>T | CA503769929 | ASXL3 | c.4125A>T (p.Ile1375=) c.4122A>T (p.Ile1374=) c.4002A>T (p.Ile1334=) c.4098A>T (p.Ile1366=) c.4044A>T (p.Ile1348=) c.4005A>T (p.Ile1335=) c.3954A>T (p.Ile1318=) c.1086A>T (p.Ile362=) | |
| 18 | g.33743971G>A | CA402190152 | ASXL3 | c.4126G>A (p.Ala1376Thr) c.4123G>A (p.Ala1375Thr) c.4003G>A (p.Ala1335Thr) c.4099G>A (p.Ala1367Thr) c.4045G>A (p.Ala1349Thr) c.4006G>A (p.Ala1336Thr) c.3955G>A (p.Ala1319Thr) c.1087G>A (p.Ala363Thr) | |
| 18 | g.33743971G>C | CA402190154 | ASXL3 | c.4126G>C (p.Ala1376Pro) c.4123G>C (p.Ala1375Pro) c.4003G>C (p.Ala1335Pro) c.4099G>C (p.Ala1367Pro) c.4045G>C (p.Ala1349Pro) c.4006G>C (p.Ala1336Pro) c.3955G>C (p.Ala1319Pro) c.1087G>C (p.Ala363Pro) | gnomAD v4 |
| 18 | g.33743971G>T | CA402190156 | ASXL3 | c.4126G>T (p.Ala1376Ser) c.4123G>T (p.Ala1375Ser) c.4003G>T (p.Ala1335Ser) c.4099G>T (p.Ala1367Ser) c.4045G>T (p.Ala1349Ser) c.4006G>T (p.Ala1336Ser) c.3955G>T (p.Ala1319Ser) c.1087G>T (p.Ala363Ser) | |
| 18 | g.33743972C>A | CA402190161 | ASXL3 | c.4127C>A (p.Ala1376Asp) c.4124C>A (p.Ala1375Asp) c.4004C>A (p.Ala1335Asp) c.4100C>A (p.Ala1367Asp) c.4046C>A (p.Ala1349Asp) c.4007C>A (p.Ala1336Asp) c.3956C>A (p.Ala1319Asp) c.1088C>A (p.Ala363Asp) | dbSNP |
| 18 | g.33743972C>G | CA402190163 | ASXL3 | c.4127C>G (p.Ala1376Gly) c.4124C>G (p.Ala1375Gly) c.4004C>G (p.Ala1335Gly) c.4100C>G (p.Ala1367Gly) c.4046C>G (p.Ala1349Gly) c.4007C>G (p.Ala1336Gly) c.3956C>G (p.Ala1319Gly) c.1088C>G (p.Ala363Gly) | |
| 18 | g.33743972C>T | CA402190159 | ASXL3 | c.4127C>T (p.Ala1376Val) c.4124C>T (p.Ala1375Val) c.4004C>T (p.Ala1335Val) c.4100C>T (p.Ala1367Val) c.4046C>T (p.Ala1349Val) c.4007C>T (p.Ala1336Val) c.3956C>T (p.Ala1319Val) c.1088C>T (p.Ala363Val) | COSMIC |
| 18 | g.33743973C>A | CA503769942 | ASXL3 | c.4128C>A (p.Ala1376=) c.4125C>A (p.Ala1375=) c.4005C>A (p.Ala1335=) c.4101C>A (p.Ala1367=) c.4047C>A (p.Ala1349=) c.4008C>A (p.Ala1336=) c.3957C>A (p.Ala1319=) c.1089C>A (p.Ala363=) | dbSNP gnomAD v4 |
| 18 | g.33743973C= | CA2294857925 | ASXL3 | c.4128C= (p.Ala1376=) c.4125C= (p.Ala1375=) c.4005C= (p.Ala1335=) c.4101C= (p.Ala1367=) c.4047C= (p.Ala1349=) c.4008C= (p.Ala1336=) c.3957C= (p.Ala1319=) c.1089C= (p.Ala363=) | |
| 18 | g.33743973C>G | CA503769943 | ASXL3 | c.4128C>G (p.Ala1376=) c.4125C>G (p.Ala1375=) c.4005C>G (p.Ala1335=) c.4101C>G (p.Ala1367=) c.4047C>G (p.Ala1349=) c.4008C>G (p.Ala1336=) c.3957C>G (p.Ala1319=) c.1089C>G (p.Ala363=) | |
| 18 | g.33743973C>T | CA8934178 | ASXL3 | c.4128C>T (p.Ala1376=) c.4125C>T (p.Ala1375=) c.4005C>T (p.Ala1335=) c.4101C>T (p.Ala1367=) c.4047C>T (p.Ala1349=) c.4008C>T (p.Ala1336=) c.3957C>T (p.Ala1319=) c.1089C>T (p.Ala363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743974A= | CA2294857926 | ASXL3 | c.4129A= (p.Ile1377=) c.4126A= (p.Ile1376=) c.4006A= (p.Ile1336=) c.4102A= (p.Ile1368=) c.4048A= (p.Ile1350=) c.4009A= (p.Ile1337=) c.3958A= (p.Ile1320=) c.1090A= (p.Ile364=) | |
| 18 | g.33743974A>C | CA402190168 | ASXL3 | c.4129A>C (p.Ile1377Leu) c.4126A>C (p.Ile1376Leu) c.4006A>C (p.Ile1336Leu) c.4102A>C (p.Ile1368Leu) c.4048A>C (p.Ile1350Leu) c.4009A>C (p.Ile1337Leu) c.3958A>C (p.Ile1320Leu) c.1090A>C (p.Ile364Leu) | |
| 18 | g.33743974A>G | CA8934179 | ASXL3 | c.4129A>G (p.Ile1377Val) c.4126A>G (p.Ile1376Val) c.4006A>G (p.Ile1336Val) c.4102A>G (p.Ile1368Val) c.4048A>G (p.Ile1350Val) c.4009A>G (p.Ile1337Val) c.3958A>G (p.Ile1320Val) c.1090A>G (p.Ile364Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743974A>T | CA402190171 | ASXL3 | c.4129A>T (p.Ile1377Leu) c.4126A>T (p.Ile1376Leu) c.4006A>T (p.Ile1336Leu) c.4102A>T (p.Ile1368Leu) c.4048A>T (p.Ile1350Leu) c.4009A>T (p.Ile1337Leu) c.3958A>T (p.Ile1320Leu) c.1090A>T (p.Ile364Leu) | |
| 18 | g.33743975T>A | CA402190174 | ASXL3 | c.4130T>A (p.Ile1377Lys) c.4127T>A (p.Ile1376Lys) c.4007T>A (p.Ile1336Lys) c.4103T>A (p.Ile1368Lys) c.4049T>A (p.Ile1350Lys) c.4010T>A (p.Ile1337Lys) c.3959T>A (p.Ile1320Lys) c.1091T>A (p.Ile364Lys) | |
| 18 | g.33743975T>C | CA402190176 | ASXL3 | c.4130T>C (p.Ile1377Thr) c.4127T>C (p.Ile1376Thr) c.4007T>C (p.Ile1336Thr) c.4103T>C (p.Ile1368Thr) c.4049T>C (p.Ile1350Thr) c.4010T>C (p.Ile1337Thr) c.3959T>C (p.Ile1320Thr) c.1091T>C (p.Ile364Thr) | |
| 18 | g.33743975T>G | CA402190178 | ASXL3 | c.4130T>G (p.Ile1377Arg) c.4127T>G (p.Ile1376Arg) c.4007T>G (p.Ile1336Arg) c.4103T>G (p.Ile1368Arg) c.4049T>G (p.Ile1350Arg) c.4010T>G (p.Ile1337Arg) c.3959T>G (p.Ile1320Arg) c.1091T>G (p.Ile364Arg) | |
| 18 | g.33743976A>C | CA503769950 | ASXL3 | c.4131A>C (p.Ile1377=) c.4128A>C (p.Ile1376=) c.4008A>C (p.Ile1336=) c.4104A>C (p.Ile1368=) c.4050A>C (p.Ile1350=) c.4011A>C (p.Ile1337=) c.3960A>C (p.Ile1320=) c.1092A>C (p.Ile364=) | |
| 18 | g.33743976A>G | CA402190180 | ASXL3 | c.4131A>G (p.Ile1377Met) c.4128A>G (p.Ile1376Met) c.4008A>G (p.Ile1336Met) c.4104A>G (p.Ile1368Met) c.4050A>G (p.Ile1350Met) c.4011A>G (p.Ile1337Met) c.3960A>G (p.Ile1320Met) c.1092A>G (p.Ile364Met) | dbSNP |
| 18 | g.33743976A>T | CA503769951 | ASXL3 | c.4131A>T (p.Ile1377=) c.4128A>T (p.Ile1376=) c.4008A>T (p.Ile1336=) c.4104A>T (p.Ile1368=) c.4050A>T (p.Ile1350=) c.4011A>T (p.Ile1337=) c.3960A>T (p.Ile1320=) c.1092A>T (p.Ile364=) | |
| 18 | g.33743976_33743981del | CA2695227400 | ASXL3 | c.4131_4136del (p.Ile1377_Gly1379delinsMet) c.4128_4133del (p.Ile1376_Gly1378delinsMet) c.4008_4013del (p.Ile1336_Gly1338delinsMet) c.4104_4109del (p.Ile1368_Gly1370delinsMet) c.4050_4055del (p.Ile1350_Gly1352delinsMet) c.4011_4016del (p.Ile1337_Gly1339delinsMet) c.3960_3965del (p.Ile1320_Gly1322delinsMet) c.1092_1097del (p.Ile364_Gly366delinsMet) | |
| 18 | g.33743977C>A | CA402190183 | ASXL3 | c.4132C>A (p.Pro1378Thr) c.4129C>A (p.Pro1377Thr) c.4009C>A (p.Pro1337Thr) c.4105C>A (p.Pro1369Thr) c.4051C>A (p.Pro1351Thr) c.4012C>A (p.Pro1338Thr) c.3961C>A (p.Pro1321Thr) c.1093C>A (p.Pro365Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743977C= | CA2294857927 | ASXL3 | c.4132C= (p.Pro1378=) c.4129C= (p.Pro1377=) c.4009C= (p.Pro1337=) c.4105C= (p.Pro1369=) c.4051C= (p.Pro1351=) c.4012C= (p.Pro1338=) c.3961C= (p.Pro1321=) c.1093C= (p.Pro365=) | |
| 18 | g.33743977C>G | CA402190185 | ASXL3 | c.4132C>G (p.Pro1378Ala) c.4129C>G (p.Pro1377Ala) c.4009C>G (p.Pro1337Ala) c.4105C>G (p.Pro1369Ala) c.4051C>G (p.Pro1351Ala) c.4012C>G (p.Pro1338Ala) c.3961C>G (p.Pro1321Ala) c.1093C>G (p.Pro365Ala) | |
| 18 | g.33743977C>T | CA402190188 | ASXL3 | c.4132C>T (p.Pro1378Ser) c.4129C>T (p.Pro1377Ser) c.4009C>T (p.Pro1337Ser) c.4105C>T (p.Pro1369Ser) c.4051C>T (p.Pro1351Ser) c.4012C>T (p.Pro1338Ser) c.3961C>T (p.Pro1321Ser) c.1093C>T (p.Pro365Ser) | gnomAD v4 |
| 18 | g.33743978C>A | CA402190191 | ASXL3 | c.4133C>A (p.Pro1378His) c.4130C>A (p.Pro1377His) c.4010C>A (p.Pro1337His) c.4106C>A (p.Pro1369His) c.4052C>A (p.Pro1351His) c.4013C>A (p.Pro1338His) c.3962C>A (p.Pro1321His) c.1094C>A (p.Pro365His) | |
| 18 | g.33743978C>G | CA402190192 | ASXL3 | c.4133C>G (p.Pro1378Arg) c.4130C>G (p.Pro1377Arg) c.4010C>G (p.Pro1337Arg) c.4106C>G (p.Pro1369Arg) c.4052C>G (p.Pro1351Arg) c.4013C>G (p.Pro1338Arg) c.3962C>G (p.Pro1321Arg) c.1094C>G (p.Pro365Arg) | gnomAD v4 |
| 18 | g.33743978C>T | CA402190195 | ASXL3 | c.4133C>T (p.Pro1378Leu) c.4130C>T (p.Pro1377Leu) c.4010C>T (p.Pro1337Leu) c.4106C>T (p.Pro1369Leu) c.4052C>T (p.Pro1351Leu) c.4013C>T (p.Pro1338Leu) c.3962C>T (p.Pro1321Leu) c.1094C>T (p.Pro365Leu) | |
| 18 | g.33743979T>A | CA503769954 | ASXL3 | c.4134T>A (p.Pro1378=) c.4131T>A (p.Pro1377=) c.4011T>A (p.Pro1337=) c.4107T>A (p.Pro1369=) c.4053T>A (p.Pro1351=) c.4014T>A (p.Pro1338=) c.3963T>A (p.Pro1321=) c.1095T>A (p.Pro365=) | gnomAD v4 |
| 18 | g.33743979T>C | CA297793369 | ASXL3 | c.4134T>C (p.Pro1378=) c.4131T>C (p.Pro1377=) c.4011T>C (p.Pro1337=) c.4107T>C (p.Pro1369=) c.4053T>C (p.Pro1351=) c.4014T>C (p.Pro1338=) c.3963T>C (p.Pro1321=) c.1095T>C (p.Pro365=) | dbSNP gnomAD v4 |
| 18 | g.33743979T>G | CA503769955 | ASXL3 | c.4134T>G (p.Pro1378=) c.4131T>G (p.Pro1377=) c.4011T>G (p.Pro1337=) c.4107T>G (p.Pro1369=) c.4053T>G (p.Pro1351=) c.4014T>G (p.Pro1338=) c.3963T>G (p.Pro1321=) c.1095T>G (p.Pro365=) | gnomAD v4 |
| 18 | g.33743979T= | CA2294857928 | ASXL3 | c.4134T= (p.Pro1378=) c.4131T= (p.Pro1377=) c.4011T= (p.Pro1337=) c.4107T= (p.Pro1369=) c.4053T= (p.Pro1351=) c.4014T= (p.Pro1338=) c.3963T= (p.Pro1321=) c.1095T= (p.Pro365=) | |
| 18 | g.33743980G>A | CA402190202 | ASXL3 | c.4135G>A (p.Gly1379Arg) c.4132G>A (p.Gly1378Arg) c.4012G>A (p.Gly1338Arg) c.4108G>A (p.Gly1370Arg) c.4054G>A (p.Gly1352Arg) c.4015G>A (p.Gly1339Arg) c.3964G>A (p.Gly1322Arg) c.1096G>A (p.Gly366Arg) | |
| 18 | g.33743980G>C | CA402190200 | ASXL3 | c.4135G>C (p.Gly1379Arg) c.4132G>C (p.Gly1378Arg) c.4012G>C (p.Gly1338Arg) c.4108G>C (p.Gly1370Arg) c.4054G>C (p.Gly1352Arg) c.4015G>C (p.Gly1339Arg) c.3964G>C (p.Gly1322Arg) c.1096G>C (p.Gly366Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743980G= | CA2294857929 | ASXL3 | c.4135G= (p.Gly1379=) c.4132G= (p.Gly1378=) c.4012G= (p.Gly1338=) c.4108G= (p.Gly1370=) c.4054G= (p.Gly1352=) c.4015G= (p.Gly1339=) c.3964G= (p.Gly1322=) c.1096G= (p.Gly366=) | |
| 18 | g.33743980G>T | CA402190198 | ASXL3 | c.4135G>T (p.Gly1379Trp) c.4132G>T (p.Gly1378Trp) c.4012G>T (p.Gly1338Trp) c.4108G>T (p.Gly1370Trp) c.4054G>T (p.Gly1352Trp) c.4015G>T (p.Gly1339Trp) c.3964G>T (p.Gly1322Trp) c.1096G>T (p.Gly366Trp) | |
| 18 | g.33743981G>A | CA8934180 | ASXL3 | c.4136G>A (p.Gly1379Glu) c.4133G>A (p.Gly1378Glu) c.4013G>A (p.Gly1338Glu) c.4109G>A (p.Gly1370Glu) c.4055G>A (p.Gly1352Glu) c.4016G>A (p.Gly1339Glu) c.3965G>A (p.Gly1322Glu) c.1097G>A (p.Gly366Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743981G>C | CA402190207 | ASXL3 | c.4136G>C (p.Gly1379Ala) c.4133G>C (p.Gly1378Ala) c.4013G>C (p.Gly1338Ala) c.4109G>C (p.Gly1370Ala) c.4055G>C (p.Gly1352Ala) c.4016G>C (p.Gly1339Ala) c.3965G>C (p.Gly1322Ala) c.1097G>C (p.Gly366Ala) | |
| 18 | g.33743981G= | CA2294857930 | ASXL3 | c.4136G= (p.Gly1379=) c.4133G= (p.Gly1378=) c.4013G= (p.Gly1338=) c.4109G= (p.Gly1370=) c.4055G= (p.Gly1352=) c.4016G= (p.Gly1339=) c.3965G= (p.Gly1322=) c.1097G= (p.Gly366=) | |
| 18 | g.33743981G>T | CA402190209 | ASXL3 | c.4136G>T (p.Gly1379Val) c.4133G>T (p.Gly1378Val) c.4013G>T (p.Gly1338Val) c.4109G>T (p.Gly1370Val) c.4055G>T (p.Gly1352Val) c.4016G>T (p.Gly1339Val) c.3965G>T (p.Gly1322Val) c.1097G>T (p.Gly366Val) | COSMIC |
| 18 | g.33743982G>A | CA503769966 | ASXL3 | c.4137G>A (p.Gly1379=) c.4134G>A (p.Gly1378=) c.4014G>A (p.Gly1338=) c.4110G>A (p.Gly1370=) c.4056G>A (p.Gly1352=) c.4017G>A (p.Gly1339=) c.3966G>A (p.Gly1322=) c.1098G>A (p.Gly366=) | gnomAD v4 |
| 18 | g.33743982G>C | CA503769968 | ASXL3 | c.4137G>C (p.Gly1379=) c.4134G>C (p.Gly1378=) c.4014G>C (p.Gly1338=) c.4110G>C (p.Gly1370=) c.4056G>C (p.Gly1352=) c.4017G>C (p.Gly1339=) c.3966G>C (p.Gly1322=) c.1098G>C (p.Gly366=) | |
| 18 | g.33743982G>T | CA503769967 | ASXL3 | c.4137G>T (p.Gly1379=) c.4134G>T (p.Gly1378=) c.4014G>T (p.Gly1338=) c.4110G>T (p.Gly1370=) c.4056G>T (p.Gly1352=) c.4017G>T (p.Gly1339=) c.3966G>T (p.Gly1322=) c.1098G>T (p.Gly366=) | |
| 18 | g.33743983A>C | CA402190213 | ASXL3 | c.4138A>C (p.Ser1380Arg) c.4135A>C (p.Ser1379Arg) c.4015A>C (p.Ser1339Arg) c.4111A>C (p.Ser1371Arg) c.4057A>C (p.Ser1353Arg) c.4018A>C (p.Ser1340Arg) c.3967A>C (p.Ser1323Arg) c.1099A>C (p.Ser367Arg) | |
| 18 | g.33743983A>G | CA402190214 | ASXL3 | c.4138A>G (p.Ser1380Gly) c.4135A>G (p.Ser1379Gly) c.4015A>G (p.Ser1339Gly) c.4111A>G (p.Ser1371Gly) c.4057A>G (p.Ser1353Gly) c.4018A>G (p.Ser1340Gly) c.3967A>G (p.Ser1323Gly) c.1099A>G (p.Ser367Gly) | |
| 18 | g.33743983A>T | CA402190215 | ASXL3 | c.4138A>T (p.Ser1380Cys) c.4135A>T (p.Ser1379Cys) c.4015A>T (p.Ser1339Cys) c.4111A>T (p.Ser1371Cys) c.4057A>T (p.Ser1353Cys) c.4018A>T (p.Ser1340Cys) c.3967A>T (p.Ser1323Cys) c.1099A>T (p.Ser367Cys) | |
| 18 | g.33743984G>A | CA8934182 | ASXL3 | c.4139G>A (p.Ser1380Asn) c.4136G>A (p.Ser1379Asn) c.4016G>A (p.Ser1339Asn) c.4112G>A (p.Ser1371Asn) c.4058G>A (p.Ser1353Asn) c.4019G>A (p.Ser1340Asn) c.3968G>A (p.Ser1323Asn) c.1100G>A (p.Ser367Asn) | dbSNP ExAC gnomAD v2 |
| 18 | g.33743984G>C | CA8934181 | ASXL3 | c.4139G>C (p.Ser1380Thr) c.4136G>C (p.Ser1379Thr) c.4016G>C (p.Ser1339Thr) c.4112G>C (p.Ser1371Thr) c.4058G>C (p.Ser1353Thr) c.4019G>C (p.Ser1340Thr) c.3968G>C (p.Ser1323Thr) c.1100G>C (p.Ser367Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743984G= | CA2294857931 | ASXL3 | c.4139G= (p.Ser1380=) c.4136G= (p.Ser1379=) c.4016G= (p.Ser1339=) c.4112G= (p.Ser1371=) c.4058G= (p.Ser1353=) c.4019G= (p.Ser1340=) c.3968G= (p.Ser1323=) c.1100G= (p.Ser367=) | |
| 18 | g.33743984G>T | CA402190221 | ASXL3 | c.4139G>T (p.Ser1380Ile) c.4136G>T (p.Ser1379Ile) c.4016G>T (p.Ser1339Ile) c.4112G>T (p.Ser1371Ile) c.4058G>T (p.Ser1353Ile) c.4019G>T (p.Ser1340Ile) c.3968G>T (p.Ser1323Ile) c.1100G>T (p.Ser367Ile) | |
| 18 | g.33743985T>A | CA402190223 | ASXL3 | c.4140T>A (p.Ser1380Arg) c.4137T>A (p.Ser1379Arg) c.4017T>A (p.Ser1339Arg) c.4113T>A (p.Ser1371Arg) c.4059T>A (p.Ser1353Arg) c.4020T>A (p.Ser1340Arg) c.3969T>A (p.Ser1323Arg) c.1101T>A (p.Ser367Arg) | |
| 18 | g.33743985T>C | CA503769977 | ASXL3 | c.4140T>C (p.Ser1380=) c.4137T>C (p.Ser1379=) c.4017T>C (p.Ser1339=) c.4113T>C (p.Ser1371=) c.4059T>C (p.Ser1353=) c.4020T>C (p.Ser1340=) c.3969T>C (p.Ser1323=) c.1101T>C (p.Ser367=) | |
| 18 | g.33743985T>G | CA402190225 | ASXL3 | c.4140T>G (p.Ser1380Arg) c.4137T>G (p.Ser1379Arg) c.4017T>G (p.Ser1339Arg) c.4113T>G (p.Ser1371Arg) c.4059T>G (p.Ser1353Arg) c.4020T>G (p.Ser1340Arg) c.3969T>G (p.Ser1323Arg) c.1101T>G (p.Ser367Arg) | |
| 18 | g.33743986G>A | CA402190228 | ASXL3 | c.4141G>A (p.Glu1381Lys) c.4138G>A (p.Glu1380Lys) c.4018G>A (p.Glu1340Lys) c.4114G>A (p.Glu1372Lys) c.4060G>A (p.Glu1354Lys) c.4021G>A (p.Glu1341Lys) c.3970G>A (p.Glu1324Lys) c.1102G>A (p.Glu368Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743986G>C | CA402190230 | ASXL3 | c.4141G>C (p.Glu1381Gln) c.4138G>C (p.Glu1380Gln) c.4018G>C (p.Glu1340Gln) c.4114G>C (p.Glu1372Gln) c.4060G>C (p.Glu1354Gln) c.4021G>C (p.Glu1341Gln) c.3970G>C (p.Glu1324Gln) c.1102G>C (p.Glu368Gln) | |
| 18 | g.33743986G= | CA2294857932 | ASXL3 | c.4141G= (p.Glu1381=) c.4138G= (p.Glu1380=) c.4018G= (p.Glu1340=) c.4114G= (p.Glu1372=) c.4060G= (p.Glu1354=) c.4021G= (p.Glu1341=) c.3970G= (p.Glu1324=) c.1102G= (p.Glu368=) | |
| 18 | g.33743986G>T | CA402190232 | ASXL3 | c.4141G>T (p.Glu1381Ter) c.4138G>T (p.Glu1380Ter) c.4018G>T (p.Glu1340Ter) c.4114G>T (p.Glu1372Ter) c.4060G>T (p.Glu1354Ter) c.4021G>T (p.Glu1341Ter) c.3970G>T (p.Glu1324Ter) c.1102G>T (p.Glu368Ter) | |
| 18 | g.33743987A>C | CA402190237 | ASXL3 | c.4142A>C (p.Glu1381Ala) c.4139A>C (p.Glu1380Ala) c.4019A>C (p.Glu1340Ala) c.4115A>C (p.Glu1372Ala) c.4061A>C (p.Glu1354Ala) c.4022A>C (p.Glu1341Ala) c.3971A>C (p.Glu1324Ala) c.1103A>C (p.Glu368Ala) | |
| 18 | g.33743987A>G | CA402190239 | ASXL3 | c.4142A>G (p.Glu1381Gly) c.4139A>G (p.Glu1380Gly) c.4019A>G (p.Glu1340Gly) c.4115A>G (p.Glu1372Gly) c.4061A>G (p.Glu1354Gly) c.4022A>G (p.Glu1341Gly) c.3971A>G (p.Glu1324Gly) c.1103A>G (p.Glu368Gly) | gnomAD v4 |
| 18 | g.33743987A>T | CA402190235 | ASXL3 | c.4142A>T (p.Glu1381Val) c.4139A>T (p.Glu1380Val) c.4019A>T (p.Glu1340Val) c.4115A>T (p.Glu1372Val) c.4061A>T (p.Glu1354Val) c.4022A>T (p.Glu1341Val) c.3971A>T (p.Glu1324Val) c.1103A>T (p.Glu368Val) | |
| 18 | g.33743988A>C | CA402190242 | ASXL3 | c.4143A>C (p.Glu1381Asp) c.4140A>C (p.Glu1380Asp) c.4020A>C (p.Glu1340Asp) c.4116A>C (p.Glu1372Asp) c.4062A>C (p.Glu1354Asp) c.4023A>C (p.Glu1341Asp) c.3972A>C (p.Glu1324Asp) c.1104A>C (p.Glu368Asp) | |
| 18 | g.33743988A>G | CA503769984 | ASXL3 | c.4143A>G (p.Glu1381=) c.4140A>G (p.Glu1380=) c.4020A>G (p.Glu1340=) c.4116A>G (p.Glu1372=) c.4062A>G (p.Glu1354=) c.4023A>G (p.Glu1341=) c.3972A>G (p.Glu1324=) c.1104A>G (p.Glu368=) | |
| 18 | g.33743988A>T | CA402190244 | ASXL3 | c.4143A>T (p.Glu1381Asp) c.4140A>T (p.Glu1380Asp) c.4020A>T (p.Glu1340Asp) c.4116A>T (p.Glu1372Asp) c.4062A>T (p.Glu1354Asp) c.4023A>T (p.Glu1341Asp) c.3972A>T (p.Glu1324Asp) c.1104A>T (p.Glu368Asp) | |
| 18 | g.33743989G>A | CA402190247 | ASXL3 | c.4144G>A (p.Glu1382Lys) c.4141G>A (p.Glu1381Lys) c.4021G>A (p.Glu1341Lys) c.4117G>A (p.Glu1373Lys) c.4063G>A (p.Glu1355Lys) c.4024G>A (p.Glu1342Lys) c.3973G>A (p.Glu1325Lys) c.1105G>A (p.Glu369Lys) | |
| 18 | g.33743989G>C | CA402190249 | ASXL3 | c.4144G>C (p.Glu1382Gln) c.4141G>C (p.Glu1381Gln) c.4021G>C (p.Glu1341Gln) c.4117G>C (p.Glu1373Gln) c.4063G>C (p.Glu1355Gln) c.4024G>C (p.Glu1342Gln) c.3973G>C (p.Glu1325Gln) c.1105G>C (p.Glu369Gln) | |
| 18 | g.33743989G>T | CA402190252 | ASXL3 | c.4144G>T (p.Glu1382Ter) c.4141G>T (p.Glu1381Ter) c.4021G>T (p.Glu1341Ter) c.4117G>T (p.Glu1373Ter) c.4063G>T (p.Glu1355Ter) c.4024G>T (p.Glu1342Ter) c.3973G>T (p.Glu1325Ter) c.1105G>T (p.Glu369Ter) | |
| 18 | g.33743990A>C | CA402190255 | ASXL3 | c.4145A>C (p.Glu1382Ala) c.4142A>C (p.Glu1381Ala) c.4022A>C (p.Glu1341Ala) c.4118A>C (p.Glu1373Ala) c.4064A>C (p.Glu1355Ala) c.4025A>C (p.Glu1342Ala) c.3974A>C (p.Glu1325Ala) c.1106A>C (p.Glu369Ala) | |
| 18 | g.33743990A>G | CA402190257 | ASXL3 | c.4145A>G (p.Glu1382Gly) c.4142A>G (p.Glu1381Gly) c.4022A>G (p.Glu1341Gly) c.4118A>G (p.Glu1373Gly) c.4064A>G (p.Glu1355Gly) c.4025A>G (p.Glu1342Gly) c.3974A>G (p.Glu1325Gly) c.1106A>G (p.Glu369Gly) | |
| 18 | g.33743990A>T | CA402190259 | ASXL3 | c.4145A>T (p.Glu1382Val) c.4142A>T (p.Glu1381Val) c.4022A>T (p.Glu1341Val) c.4118A>T (p.Glu1373Val) c.4064A>T (p.Glu1355Val) c.4025A>T (p.Glu1342Val) c.3974A>T (p.Glu1325Val) c.1106A>T (p.Glu369Val) | |
| 18 | g.33743991A>C | CA402190262 | ASXL3 | c.4146A>C (p.Glu1382Asp) c.4143A>C (p.Glu1381Asp) c.4023A>C (p.Glu1341Asp) c.4119A>C (p.Glu1373Asp) c.4065A>C (p.Glu1355Asp) c.4026A>C (p.Glu1342Asp) c.3975A>C (p.Glu1325Asp) c.1107A>C (p.Glu369Asp) | |
| 18 | g.33743991A>G | CA503769993 | ASXL3 | c.4146A>G (p.Glu1382=) c.4143A>G (p.Glu1381=) c.4023A>G (p.Glu1341=) c.4119A>G (p.Glu1373=) c.4065A>G (p.Glu1355=) c.4026A>G (p.Glu1342=) c.3975A>G (p.Glu1325=) c.1107A>G (p.Glu369=) | |
| 18 | g.33743991A>T | CA402190264 | ASXL3 | c.4146A>T (p.Glu1382Asp) c.4143A>T (p.Glu1381Asp) c.4023A>T (p.Glu1341Asp) c.4119A>T (p.Glu1373Asp) c.4065A>T (p.Glu1355Asp) c.4026A>T (p.Glu1342Asp) c.3975A>T (p.Glu1325Asp) c.1107A>T (p.Glu369Asp) | |
| 18 | g.33743992C>A | CA402190267 | ASXL3 | c.4147C>A (p.Gln1383Lys) c.4144C>A (p.Gln1382Lys) c.4024C>A (p.Gln1342Lys) c.4120C>A (p.Gln1374Lys) c.4066C>A (p.Gln1356Lys) c.4027C>A (p.Gln1343Lys) c.3976C>A (p.Gln1326Lys) c.1108C>A (p.Gln370Lys) | |
| 18 | g.33743992C= | CA2294857933 | ASXL3 | c.4147C= (p.Gln1383=) c.4144C= (p.Gln1382=) c.4024C= (p.Gln1342=) c.4120C= (p.Gln1374=) c.4066C= (p.Gln1356=) c.4027C= (p.Gln1343=) c.3976C= (p.Gln1326=) c.1108C= (p.Gln370=) | |
| 18 | g.33743992C>G | CA402190268 | ASXL3 | c.4147C>G (p.Gln1383Glu) c.4144C>G (p.Gln1382Glu) c.4024C>G (p.Gln1342Glu) c.4120C>G (p.Gln1374Glu) c.4066C>G (p.Gln1356Glu) c.4027C>G (p.Gln1343Glu) c.3976C>G (p.Gln1326Glu) c.1108C>G (p.Gln370Glu) | |
| 18 | g.33743992C>T | CA402190269 | ASXL3 | c.4147C>T (p.Gln1383Ter) c.4144C>T (p.Gln1382Ter) c.4024C>T (p.Gln1342Ter) c.4120C>T (p.Gln1374Ter) c.4066C>T (p.Gln1356Ter) c.4027C>T (p.Gln1343Ter) c.3976C>T (p.Gln1326Ter) c.1108C>T (p.Gln370Ter) | ClinVar dbSNP |
| 18 | g.33743993A>C | CA402190272 | ASXL3 | c.4148A>C (p.Gln1383Pro) c.4145A>C (p.Gln1382Pro) c.4025A>C (p.Gln1342Pro) c.4121A>C (p.Gln1374Pro) c.4067A>C (p.Gln1356Pro) c.4028A>C (p.Gln1343Pro) c.3977A>C (p.Gln1326Pro) c.1109A>C (p.Gln370Pro) | |
| 18 | g.33743993A>G | CA402190270 | ASXL3 | c.4148A>G (p.Gln1383Arg) c.4145A>G (p.Gln1382Arg) c.4025A>G (p.Gln1342Arg) c.4121A>G (p.Gln1374Arg) c.4067A>G (p.Gln1356Arg) c.4028A>G (p.Gln1343Arg) c.3977A>G (p.Gln1326Arg) c.1109A>G (p.Gln370Arg) | |
| 18 | g.33743993A>T | CA402190271 | ASXL3 | c.4148A>T (p.Gln1383Leu) c.4145A>T (p.Gln1382Leu) c.4025A>T (p.Gln1342Leu) c.4121A>T (p.Gln1374Leu) c.4067A>T (p.Gln1356Leu) c.4028A>T (p.Gln1343Leu) c.3977A>T (p.Gln1326Leu) c.1109A>T (p.Gln370Leu) | |
| 18 | g.33743994G>A | CA503770000 | ASXL3 | c.4149G>A (p.Gln1383=) c.4146G>A (p.Gln1382=) c.4026G>A (p.Gln1342=) c.4122G>A (p.Gln1374=) c.4068G>A (p.Gln1356=) c.4029G>A (p.Gln1343=) c.3978G>A (p.Gln1326=) c.1110G>A (p.Gln370=) | |
| 18 | g.33743994G>C | CA402190273 | ASXL3 | c.4149G>C (p.Gln1383His) c.4146G>C (p.Gln1382His) c.4026G>C (p.Gln1342His) c.4122G>C (p.Gln1374His) c.4068G>C (p.Gln1356His) c.4029G>C (p.Gln1343His) c.3978G>C (p.Gln1326His) c.1110G>C (p.Gln370His) | |
| 18 | g.33743994G>T | CA402190274 | ASXL3 | c.4149G>T (p.Gln1383His) c.4146G>T (p.Gln1382His) c.4026G>T (p.Gln1342His) c.4122G>T (p.Gln1374His) c.4068G>T (p.Gln1356His) c.4029G>T (p.Gln1343His) c.3978G>T (p.Gln1326His) c.1110G>T (p.Gln370His) | |
| 18 | g.33743995G>A | CA402190275 | ASXL3 | c.4150G>A (p.Ala1384Thr) c.4147G>A (p.Ala1383Thr) c.4027G>A (p.Ala1343Thr) c.4123G>A (p.Ala1375Thr) c.4069G>A (p.Ala1357Thr) c.4030G>A (p.Ala1344Thr) c.3979G>A (p.Ala1327Thr) c.1111G>A (p.Ala371Thr) | |
| 18 | g.33743995G>C | CA402190276 | ASXL3 | c.4150G>C (p.Ala1384Pro) c.4147G>C (p.Ala1383Pro) c.4027G>C (p.Ala1343Pro) c.4123G>C (p.Ala1375Pro) c.4069G>C (p.Ala1357Pro) c.4030G>C (p.Ala1344Pro) c.3979G>C (p.Ala1327Pro) c.1111G>C (p.Ala371Pro) | |
| 18 | g.33743995G>T | CA402190277 | ASXL3 | c.4150G>T (p.Ala1384Ser) c.4147G>T (p.Ala1383Ser) c.4027G>T (p.Ala1343Ser) c.4123G>T (p.Ala1375Ser) c.4069G>T (p.Ala1357Ser) c.4030G>T (p.Ala1344Ser) c.3979G>T (p.Ala1327Ser) c.1111G>T (p.Ala371Ser) | |
| 18 | g.33743996C>A | CA402190278 | ASXL3 | c.4151C>A (p.Ala1384Asp) c.4148C>A (p.Ala1383Asp) c.4028C>A (p.Ala1343Asp) c.4124C>A (p.Ala1375Asp) c.4070C>A (p.Ala1357Asp) c.4031C>A (p.Ala1344Asp) c.3980C>A (p.Ala1327Asp) c.1112C>A (p.Ala371Asp) | |
| 18 | g.33743996C>G | CA402190279 | ASXL3 | c.4151C>G (p.Ala1384Gly) c.4148C>G (p.Ala1383Gly) c.4028C>G (p.Ala1343Gly) c.4124C>G (p.Ala1375Gly) c.4070C>G (p.Ala1357Gly) c.4031C>G (p.Ala1344Gly) c.3980C>G (p.Ala1327Gly) c.1112C>G (p.Ala371Gly) | |
| 18 | g.33743996C>T | CA402190280 | ASXL3 | c.4151C>T (p.Ala1384Val) c.4148C>T (p.Ala1383Val) c.4028C>T (p.Ala1343Val) c.4124C>T (p.Ala1375Val) c.4070C>T (p.Ala1357Val) c.4031C>T (p.Ala1344Val) c.3980C>T (p.Ala1327Val) c.1112C>T (p.Ala371Val) | COSMIC |
| 18 | g.33743997C>A | CA503770008 | ASXL3 | c.4152C>A (p.Ala1384=) c.4149C>A (p.Ala1383=) c.4029C>A (p.Ala1343=) c.4125C>A (p.Ala1375=) c.4071C>A (p.Ala1357=) c.4032C>A (p.Ala1344=) c.3981C>A (p.Ala1327=) c.1113C>A (p.Ala371=) | |
| 18 | g.33743997C>G | CA503770009 | ASXL3 | c.4152C>G (p.Ala1384=) c.4149C>G (p.Ala1383=) c.4029C>G (p.Ala1343=) c.4125C>G (p.Ala1375=) c.4071C>G (p.Ala1357=) c.4032C>G (p.Ala1344=) c.3981C>G (p.Ala1327=) c.1113C>G (p.Ala371=) | |
| 18 | g.33743997C>T | CA503770010 | ASXL3 | c.4152C>T (p.Ala1384=) c.4149C>T (p.Ala1383=) c.4029C>T (p.Ala1343=) c.4125C>T (p.Ala1375=) c.4071C>T (p.Ala1357=) c.4032C>T (p.Ala1344=) c.3981C>T (p.Ala1327=) c.1113C>T (p.Ala371=) | gnomAD v4 COSMIC |
| 18 | g.33743998A>C | CA402190281 | ASXL3 | c.4153A>C (p.Thr1385Pro) c.4150A>C (p.Thr1384Pro) c.4030A>C (p.Thr1344Pro) c.4126A>C (p.Thr1376Pro) c.4072A>C (p.Thr1358Pro) c.4033A>C (p.Thr1345Pro) c.3982A>C (p.Thr1328Pro) c.1114A>C (p.Thr372Pro) | |
| 18 | g.33743998A>G | CA402190282 | ASXL3 | c.4153A>G (p.Thr1385Ala) c.4150A>G (p.Thr1384Ala) c.4030A>G (p.Thr1344Ala) c.4126A>G (p.Thr1376Ala) c.4072A>G (p.Thr1358Ala) c.4033A>G (p.Thr1345Ala) c.3982A>G (p.Thr1328Ala) c.1114A>G (p.Thr372Ala) | |
| 18 | g.33743998A>T | CA402190283 | ASXL3 | c.4153A>T (p.Thr1385Ser) c.4150A>T (p.Thr1384Ser) c.4030A>T (p.Thr1344Ser) c.4126A>T (p.Thr1376Ser) c.4072A>T (p.Thr1358Ser) c.4033A>T (p.Thr1345Ser) c.3982A>T (p.Thr1328Ser) c.1114A>T (p.Thr372Ser) | |
| 18 | g.33743999C>A | CA402190286 | ASXL3 | c.4154C>A (p.Thr1385Asn) c.4151C>A (p.Thr1384Asn) c.4031C>A (p.Thr1344Asn) c.4127C>A (p.Thr1376Asn) c.4073C>A (p.Thr1358Asn) c.4034C>A (p.Thr1345Asn) c.3983C>A (p.Thr1328Asn) c.1115C>A (p.Thr372Asn) | |
| 18 | g.33743999C= | CA2294857934 | ASXL3 | c.4154C= (p.Thr1385=) c.4151C= (p.Thr1384=) c.4031C= (p.Thr1344=) c.4127C= (p.Thr1376=) c.4073C= (p.Thr1358=) c.4034C= (p.Thr1345=) c.3983C= (p.Thr1328=) c.1115C= (p.Thr372=) | |
| 18 | g.33743999C>G | CA402190285 | ASXL3 | c.4154C>G (p.Thr1385Ser) c.4151C>G (p.Thr1384Ser) c.4031C>G (p.Thr1344Ser) c.4127C>G (p.Thr1376Ser) c.4073C>G (p.Thr1358Ser) c.4034C>G (p.Thr1345Ser) c.3983C>G (p.Thr1328Ser) c.1115C>G (p.Thr372Ser) | dbSNP |
| 18 | g.33743999C>T | CA402190284 | ASXL3 | c.4154C>T (p.Thr1385Ile) c.4151C>T (p.Thr1384Ile) c.4031C>T (p.Thr1344Ile) c.4127C>T (p.Thr1376Ile) c.4073C>T (p.Thr1358Ile) c.4034C>T (p.Thr1345Ile) c.3983C>T (p.Thr1328Ile) c.1115C>T (p.Thr372Ile) | |
| 18 | g.33743999_33744001delinsCTG | CA2294857935 | ASXL3 | c.4154_4156delinsCTG (p.Thr1385=) c.4151_4153delinsCTG (p.Thr1384=) c.4031_4033delinsCTG (p.Thr1344=) c.4127_4129delinsCTG (p.Thr1376=) c.4073_4075delinsCTG (p.Thr1358=) c.4034_4036delinsCTG (p.Thr1345=) c.3983_3985delinsCTG (p.Thr1328=) c.1115_1117delinsCTG (p.Thr372=) | |
| 18 | g.33744000T>A | CA503770015 | ASXL3 | c.4155T>A (p.Thr1385=) c.4152T>A (p.Thr1384=) c.4032T>A (p.Thr1344=) c.4128T>A (p.Thr1376=) c.4074T>A (p.Thr1358=) c.4035T>A (p.Thr1345=) c.3984T>A (p.Thr1328=) c.1116T>A (p.Thr372=) | |
| 18 | g.33744000T>C | CA503770020 | ASXL3 | c.4155T>C (p.Thr1385=) c.4152T>C (p.Thr1384=) c.4032T>C (p.Thr1344=) c.4128T>C (p.Thr1376=) c.4074T>C (p.Thr1358=) c.4035T>C (p.Thr1345=) c.3984T>C (p.Thr1328=) c.1116T>C (p.Thr372=) | dbSNP |
| 18 | g.33744000T>G | CA503770017 | ASXL3 | c.4155T>G (p.Thr1385=) c.4152T>G (p.Thr1384=) c.4032T>G (p.Thr1344=) c.4128T>G (p.Thr1376=) c.4074T>G (p.Thr1358=) c.4035T>G (p.Thr1345=) c.3984T>G (p.Thr1328=) c.1116T>G (p.Thr372=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744000T= | CA2294857936 | ASXL3 | c.4155T= (p.Thr1385=) c.4152T= (p.Thr1384=) c.4032T= (p.Thr1344=) c.4128T= (p.Thr1376=) c.4074T= (p.Thr1358=) c.4035T= (p.Thr1345=) c.3984T= (p.Thr1328=) c.1116T= (p.Thr372=) | |
| 18 | g.33744001_33744002del | CA915952506 | ASXL3 | c.4156_4157del (p.Val1386IlefsTer14) c.4153_4154del (p.Val1385IlefsTer14) c.4033_4034del (p.Val1345IlefsTer14) c.4129_4130del (p.Val1377IlefsTer14) c.4075_4076del (p.Val1359IlefsTer14) c.4036_4037del (p.Val1346IlefsTer14) c.3985_3986del (p.Val1329IlefsTer14) c.1117_1118del (p.Val373IlefsTer14) | ClinVar dbSNP |
| 18 | g.33744001G>A | CA402190287 | ASXL3 | c.4156G>A (p.Val1386Ile) c.4153G>A (p.Val1385Ile) c.4033G>A (p.Val1345Ile) c.4129G>A (p.Val1377Ile) c.4075G>A (p.Val1359Ile) c.4036G>A (p.Val1346Ile) c.3985G>A (p.Val1329Ile) c.1117G>A (p.Val373Ile) | |
| 18 | g.33744001G>C | CA402190289 | ASXL3 | c.4156G>C (p.Val1386Leu) c.4153G>C (p.Val1385Leu) c.4033G>C (p.Val1345Leu) c.4129G>C (p.Val1377Leu) c.4075G>C (p.Val1359Leu) c.4036G>C (p.Val1346Leu) c.3985G>C (p.Val1329Leu) c.1117G>C (p.Val373Leu) | gnomAD v4 |
| 18 | g.33744001G>T | CA402190288 | ASXL3 | c.4156G>T (p.Val1386Leu) c.4153G>T (p.Val1385Leu) c.4033G>T (p.Val1345Leu) c.4129G>T (p.Val1377Leu) c.4075G>T (p.Val1359Leu) c.4036G>T (p.Val1346Leu) c.3985G>T (p.Val1329Leu) c.1117G>T (p.Val373Leu) | |
| 18 | g.33744002T>A | CA402190290 | ASXL3 | c.4157T>A (p.Val1386Glu) c.4154T>A (p.Val1385Glu) c.4034T>A (p.Val1345Glu) c.4130T>A (p.Val1377Glu) c.4076T>A (p.Val1359Glu) c.4037T>A (p.Val1346Glu) c.3986T>A (p.Val1329Glu) c.1118T>A (p.Val373Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33744002T>C | CA402190291 | ASXL3 | c.4157T>C (p.Val1386Ala) c.4154T>C (p.Val1385Ala) c.4034T>C (p.Val1345Ala) c.4130T>C (p.Val1377Ala) c.4076T>C (p.Val1359Ala) c.4037T>C (p.Val1346Ala) c.3986T>C (p.Val1329Ala) c.1118T>C (p.Val373Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33744002T>G | CA402190292 | ASXL3 | c.4157T>G (p.Val1386Gly) c.4154T>G (p.Val1385Gly) c.4034T>G (p.Val1345Gly) c.4130T>G (p.Val1377Gly) c.4076T>G (p.Val1359Gly) c.4037T>G (p.Val1346Gly) c.3986T>G (p.Val1329Gly) c.1118T>G (p.Val373Gly) | |
| 18 | g.33744002T= | CA2294857937 | ASXL3 | c.4157T= (p.Val1386=) c.4154T= (p.Val1385=) c.4034T= (p.Val1345=) c.4130T= (p.Val1377=) c.4076T= (p.Val1359=) c.4037T= (p.Val1346=) c.3986T= (p.Val1329=) c.1118T= (p.Val373=) | |
| 18 | g.33744003A= | CA2294857938 | ASXL3 | c.4158A= (p.Val1386=) c.4155A= (p.Val1385=) c.4035A= (p.Val1345=) c.4131A= (p.Val1377=) c.4077A= (p.Val1359=) c.4038A= (p.Val1346=) c.3987A= (p.Val1329=) c.1119A= (p.Val373=) | |
| 18 | g.33744003A>C | CA503770022 | ASXL3 | c.4158A>C (p.Val1386=) c.4155A>C (p.Val1385=) c.4035A>C (p.Val1345=) c.4131A>C (p.Val1377=) c.4077A>C (p.Val1359=) c.4038A>C (p.Val1346=) c.3987A>C (p.Val1329=) c.1119A>C (p.Val373=) | |
| 18 | g.33744003A>G | CA8934183 | ASXL3 | c.4158A>G (p.Val1386=) c.4155A>G (p.Val1385=) c.4035A>G (p.Val1345=) c.4131A>G (p.Val1377=) c.4077A>G (p.Val1359=) c.4038A>G (p.Val1346=) c.3987A>G (p.Val1329=) c.1119A>G (p.Val373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744003A>T | CA503770024 | ASXL3 | c.4158A>T (p.Val1386=) c.4155A>T (p.Val1385=) c.4035A>T (p.Val1345=) c.4131A>T (p.Val1377=) c.4077A>T (p.Val1359=) c.4038A>T (p.Val1346=) c.3987A>T (p.Val1329=) c.1119A>T (p.Val373=) | |
| 18 | g.33744003_33744004delinsAT | CA2294857939 | ASXL3 | c.4158_4159delinsAT (p.Val1386=) c.4155_4156delinsAT (p.Val1385=) c.4035_4036delinsAT (p.Val1345=) c.4131_4132delinsAT (p.Val1377=) c.4077_4078delinsAT (p.Val1359=) c.4038_4039delinsAT (p.Val1346=) c.3987_3988delinsAT (p.Val1329=) c.1119_1120delinsAT (p.Val373=) | |
| 18 | g.33744004del | CA1139666034 | ASXL3 | c.4159del (p.Ser1387ProfsTer6) c.4156del (p.Ser1386ProfsTer6) c.4036del (p.Ser1346ProfsTer6) c.4132del (p.Ser1378ProfsTer6) c.4078del (p.Ser1360ProfsTer6) c.4039del (p.Ser1347ProfsTer6) c.3988del (p.Ser1330ProfsTer6) c.1120del (p.Ser374ProfsTer6) | ClinVar dbSNP |
| 18 | g.33744004T>A | CA402190293 | ASXL3 | c.4159T>A (p.Ser1387Thr) c.4156T>A (p.Ser1386Thr) c.4036T>A (p.Ser1346Thr) c.4132T>A (p.Ser1378Thr) c.4078T>A (p.Ser1360Thr) c.4039T>A (p.Ser1347Thr) c.3988T>A (p.Ser1330Thr) c.1120T>A (p.Ser374Thr) | |
| 18 | g.33744004T>C | CA402190294 | ASXL3 | c.4159T>C (p.Ser1387Pro) c.4156T>C (p.Ser1386Pro) c.4036T>C (p.Ser1346Pro) c.4132T>C (p.Ser1378Pro) c.4078T>C (p.Ser1360Pro) c.4039T>C (p.Ser1347Pro) c.3988T>C (p.Ser1330Pro) c.1120T>C (p.Ser374Pro) | |
| 18 | g.33744004T>G | CA402190295 | ASXL3 | c.4159T>G (p.Ser1387Ala) c.4156T>G (p.Ser1386Ala) c.4036T>G (p.Ser1346Ala) c.4132T>G (p.Ser1378Ala) c.4078T>G (p.Ser1360Ala) c.4039T>G (p.Ser1347Ala) c.3988T>G (p.Ser1330Ala) c.1120T>G (p.Ser374Ala) | |
| 18 | g.33744005C>A | CA402190296 | ASXL3 | c.4160C>A (p.Ser1387Tyr) c.4157C>A (p.Ser1386Tyr) c.4037C>A (p.Ser1346Tyr) c.4133C>A (p.Ser1378Tyr) c.4079C>A (p.Ser1360Tyr) c.4040C>A (p.Ser1347Tyr) c.3989C>A (p.Ser1330Tyr) c.1121C>A (p.Ser374Tyr) | |
| 18 | g.33744005C= | CA2294857940 | ASXL3 | c.4160C= (p.Ser1387=) c.4157C= (p.Ser1386=) c.4037C= (p.Ser1346=) c.4133C= (p.Ser1378=) c.4079C= (p.Ser1360=) c.4040C= (p.Ser1347=) c.3989C= (p.Ser1330=) c.1121C= (p.Ser374=) | |
| 18 | g.33744005C>G | CA8934184 | ASXL3 | c.4160C>G (p.Ser1387Cys) c.4157C>G (p.Ser1386Cys) c.4037C>G (p.Ser1346Cys) c.4133C>G (p.Ser1378Cys) c.4079C>G (p.Ser1360Cys) c.4040C>G (p.Ser1347Cys) c.3989C>G (p.Ser1330Cys) c.1121C>G (p.Ser374Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33744005C>T | CA402190297 | ASXL3 | c.4160C>T (p.Ser1387Phe) c.4157C>T (p.Ser1386Phe) c.4037C>T (p.Ser1346Phe) c.4133C>T (p.Ser1378Phe) c.4079C>T (p.Ser1360Phe) c.4040C>T (p.Ser1347Phe) c.3989C>T (p.Ser1330Phe) c.1121C>T (p.Ser374Phe) | gnomAD v4 COSMIC |
| 18 | g.33744006C>A | CA503770036 | ASXL3 | c.4161C>A (p.Ser1387=) c.4158C>A (p.Ser1386=) c.4038C>A (p.Ser1346=) c.4134C>A (p.Ser1378=) c.4080C>A (p.Ser1360=) c.4041C>A (p.Ser1347=) c.3990C>A (p.Ser1330=) c.1122C>A (p.Ser374=) | |
| 18 | g.33744006C>G | CA503770038 | ASXL3 | c.4161C>G (p.Ser1387=) c.4158C>G (p.Ser1386=) c.4038C>G (p.Ser1346=) c.4134C>G (p.Ser1378=) c.4080C>G (p.Ser1360=) c.4041C>G (p.Ser1347=) c.3990C>G (p.Ser1330=) c.1122C>G (p.Ser374=) | |
| 18 | g.33744006C>T | CA503770040 | ASXL3 | c.4161C>T (p.Ser1387=) c.4158C>T (p.Ser1386=) c.4038C>T (p.Ser1346=) c.4134C>T (p.Ser1378=) c.4080C>T (p.Ser1360=) c.4041C>T (p.Ser1347=) c.3990C>T (p.Ser1330=) c.1122C>T (p.Ser374=) | gnomAD v4 |
| 18 | g.33744007A>C | CA402190300 | ASXL3 | c.4162A>C (p.Met1388Leu) c.4159A>C (p.Met1387Leu) c.4039A>C (p.Met1347Leu) c.4135A>C (p.Met1379Leu) c.4081A>C (p.Met1361Leu) c.4042A>C (p.Met1348Leu) c.3991A>C (p.Met1331Leu) c.1123A>C (p.Met375Leu) | gnomAD v4 |
| 18 | g.33744007A>G | CA402190299 | ASXL3 | c.4162A>G (p.Met1388Val) c.4159A>G (p.Met1387Val) c.4039A>G (p.Met1347Val) c.4135A>G (p.Met1379Val) c.4081A>G (p.Met1361Val) c.4042A>G (p.Met1348Val) c.3991A>G (p.Met1331Val) c.1123A>G (p.Met375Val) | gnomAD v4 |
| 18 | g.33744007A>T | CA402190298 | ASXL3 | c.4162A>T (p.Met1388Leu) c.4159A>T (p.Met1387Leu) c.4039A>T (p.Met1347Leu) c.4135A>T (p.Met1379Leu) c.4081A>T (p.Met1361Leu) c.4042A>T (p.Met1348Leu) c.3991A>T (p.Met1331Leu) c.1123A>T (p.Met375Leu) | |
| 18 | g.33744008T>A | CA402190301 | ASXL3 | c.4163T>A (p.Met1388Lys) c.4160T>A (p.Met1387Lys) c.4040T>A (p.Met1347Lys) c.4136T>A (p.Met1379Lys) c.4082T>A (p.Met1361Lys) c.4043T>A (p.Met1348Lys) c.3992T>A (p.Met1331Lys) c.1124T>A (p.Met375Lys) | |
| 18 | g.33744008T>C | CA8934185 | ASXL3 | c.4163T>C (p.Met1388Thr) c.4160T>C (p.Met1387Thr) c.4040T>C (p.Met1347Thr) c.4136T>C (p.Met1379Thr) c.4082T>C (p.Met1361Thr) c.4043T>C (p.Met1348Thr) c.3992T>C (p.Met1331Thr) c.1124T>C (p.Met375Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33744008T>G | CA402190302 | ASXL3 | c.4163T>G (p.Met1388Arg) c.4160T>G (p.Met1387Arg) c.4040T>G (p.Met1347Arg) c.4136T>G (p.Met1379Arg) c.4082T>G (p.Met1361Arg) c.4043T>G (p.Met1348Arg) c.3992T>G (p.Met1331Arg) c.1124T>G (p.Met375Arg) | |
| 18 | g.33744008T= | CA2294857941 | ASXL3 | c.4163T= (p.Met1388=) c.4160T= (p.Met1387=) c.4040T= (p.Met1347=) c.4136T= (p.Met1379=) c.4082T= (p.Met1361=) c.4043T= (p.Met1348=) c.3992T= (p.Met1331=) c.1124T= (p.Met375=) | |
| 18 | g.33744009G>A | CA402190303 | ASXL3 | c.4164G>A (p.Met1388Ile) c.4161G>A (p.Met1387Ile) c.4041G>A (p.Met1347Ile) c.4137G>A (p.Met1379Ile) c.4083G>A (p.Met1361Ile) c.4044G>A (p.Met1348Ile) c.3993G>A (p.Met1331Ile) c.1125G>A (p.Met375Ile) | dbSNP gnomAD v4 |
| 18 | g.33744009G>C | CA402190304 | ASXL3 | c.4164G>C (p.Met1388Ile) c.4161G>C (p.Met1387Ile) c.4041G>C (p.Met1347Ile) c.4137G>C (p.Met1379Ile) c.4083G>C (p.Met1361Ile) c.4044G>C (p.Met1348Ile) c.3993G>C (p.Met1331Ile) c.1125G>C (p.Met375Ile) | |
| 18 | g.33744009G= | CA2294857942 | ASXL3 | c.4164G= (p.Met1388=) c.4161G= (p.Met1387=) c.4041G= (p.Met1347=) c.4137G= (p.Met1379=) c.4083G= (p.Met1361=) c.4044G= (p.Met1348=) c.3993G= (p.Met1331=) c.1125G= (p.Met375=) | |
| 18 | g.33744009G>T | CA402190305 | ASXL3 | c.4164G>T (p.Met1388Ile) c.4161G>T (p.Met1387Ile) c.4041G>T (p.Met1347Ile) c.4137G>T (p.Met1379Ile) c.4083G>T (p.Met1361Ile) c.4044G>T (p.Met1348Ile) c.3993G>T (p.Met1331Ile) c.1125G>T (p.Met375Ile) | gnomAD v4 |
| 18 | g.33744010G>A | CA402190306 | ASXL3 | c.4165G>A (p.Gly1389Ser) c.4162G>A (p.Gly1388Ser) c.4042G>A (p.Gly1348Ser) c.4138G>A (p.Gly1380Ser) c.4084G>A (p.Gly1362Ser) c.4045G>A (p.Gly1349Ser) c.3994G>A (p.Gly1332Ser) c.1126G>A (p.Gly376Ser) | |
| 18 | g.33744010G>C | CA402190307 | ASXL3 | c.4165G>C (p.Gly1389Arg) c.4162G>C (p.Gly1388Arg) c.4042G>C (p.Gly1348Arg) c.4138G>C (p.Gly1380Arg) c.4084G>C (p.Gly1362Arg) c.4045G>C (p.Gly1349Arg) c.3994G>C (p.Gly1332Arg) c.1126G>C (p.Gly376Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744010G= | CA2294857943 | ASXL3 | c.4165G= (p.Gly1389=) c.4162G= (p.Gly1388=) c.4042G= (p.Gly1348=) c.4138G= (p.Gly1380=) c.4084G= (p.Gly1362=) c.4045G= (p.Gly1349=) c.3994G= (p.Gly1332=) c.1126G= (p.Gly376=) | |
| 18 | g.33744010G>T | CA402190308 | ASXL3 | c.4165G>T (p.Gly1389Cys) c.4162G>T (p.Gly1388Cys) c.4042G>T (p.Gly1348Cys) c.4138G>T (p.Gly1380Cys) c.4084G>T (p.Gly1362Cys) c.4045G>T (p.Gly1349Cys) c.3994G>T (p.Gly1332Cys) c.1126G>T (p.Gly376Cys) | |
| 18 | g.33744011G>A | CA8934186 | ASXL3 | c.4166G>A (p.Gly1389Asp) c.4163G>A (p.Gly1388Asp) c.4043G>A (p.Gly1348Asp) c.4139G>A (p.Gly1380Asp) c.4085G>A (p.Gly1362Asp) c.4046G>A (p.Gly1349Asp) c.3995G>A (p.Gly1332Asp) c.1127G>A (p.Gly376Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744011G>C | CA402190309 | ASXL3 | c.4166G>C (p.Gly1389Ala) c.4163G>C (p.Gly1388Ala) c.4043G>C (p.Gly1348Ala) c.4139G>C (p.Gly1380Ala) c.4085G>C (p.Gly1362Ala) c.4046G>C (p.Gly1349Ala) c.3995G>C (p.Gly1332Ala) c.1127G>C (p.Gly376Ala) | |
| 18 | g.33744011G= | CA2294857944 | ASXL3 | c.4166G= (p.Gly1389=) c.4163G= (p.Gly1388=) c.4043G= (p.Gly1348=) c.4139G= (p.Gly1380=) c.4085G= (p.Gly1362=) c.4046G= (p.Gly1349=) c.3995G= (p.Gly1332=) c.1127G= (p.Gly376=) | |
| 18 | g.33744011G>T | CA8934187 | ASXL3 | c.4166G>T (p.Gly1389Val) c.4163G>T (p.Gly1388Val) c.4043G>T (p.Gly1348Val) c.4139G>T (p.Gly1380Val) c.4085G>T (p.Gly1362Val) c.4046G>T (p.Gly1349Val) c.3995G>T (p.Gly1332Val) c.1127G>T (p.Gly376Val) | dbSNP ExAC gnomAD v2 |
| 18 | g.33744012T>A | CA503770053 | ASXL3 | c.4167T>A (p.Gly1389=) c.4164T>A (p.Gly1388=) c.4044T>A (p.Gly1348=) c.4140T>A (p.Gly1380=) c.4086T>A (p.Gly1362=) c.4047T>A (p.Gly1349=) c.3996T>A (p.Gly1332=) c.1128T>A (p.Gly376=) | |
| 18 | g.33744012T>C | CA503770055 | ASXL3 | c.4167T>C (p.Gly1389=) c.4164T>C (p.Gly1388=) c.4044T>C (p.Gly1348=) c.4140T>C (p.Gly1380=) c.4086T>C (p.Gly1362=) c.4047T>C (p.Gly1349=) c.3996T>C (p.Gly1332=) c.1128T>C (p.Gly376=) | |
| 18 | g.33744012T>G | CA503770057 | ASXL3 | c.4167T>G (p.Gly1389=) c.4164T>G (p.Gly1388=) c.4044T>G (p.Gly1348=) c.4140T>G (p.Gly1380=) c.4086T>G (p.Gly1362=) c.4047T>G (p.Gly1349=) c.3996T>G (p.Gly1332=) c.1128T>G (p.Gly376=) | |
| 18 | g.33744012dup | CA1139666035 | ASXL3 | c.4167dup (p.Thr1390TyrfsTer11) c.4164dup (p.Thr1389TyrfsTer11) c.4044dup (p.Thr1349TyrfsTer11) c.4140dup (p.Thr1381TyrfsTer11) c.4086dup (p.Thr1363TyrfsTer11) c.4047dup (p.Thr1350TyrfsTer11) c.3996dup (p.Thr1333TyrfsTer11) c.1128dup (p.Thr377TyrfsTer11) | ClinVar dbSNP |
| 18 | g.33744013A>C | CA402190311 | ASXL3 | c.4168A>C (p.Thr1390Pro) c.4165A>C (p.Thr1389Pro) c.4045A>C (p.Thr1349Pro) c.4141A>C (p.Thr1381Pro) c.4087A>C (p.Thr1363Pro) c.4048A>C (p.Thr1350Pro) c.3997A>C (p.Thr1333Pro) c.1129A>C (p.Thr377Pro) | |
| 18 | g.33744013A>G | CA402190312 | ASXL3 | c.4168A>G (p.Thr1390Ala) c.4165A>G (p.Thr1389Ala) c.4045A>G (p.Thr1349Ala) c.4141A>G (p.Thr1381Ala) c.4087A>G (p.Thr1363Ala) c.4048A>G (p.Thr1350Ala) c.3997A>G (p.Thr1333Ala) c.1129A>G (p.Thr377Ala) | |
| 18 | g.33744013A>T | CA402190310 | ASXL3 | c.4168A>T (p.Thr1390Ser) c.4165A>T (p.Thr1389Ser) c.4045A>T (p.Thr1349Ser) c.4141A>T (p.Thr1381Ser) c.4087A>T (p.Thr1363Ser) c.4048A>T (p.Thr1350Ser) c.3997A>T (p.Thr1333Ser) c.1129A>T (p.Thr377Ser) | |
| 18 | g.33744014C>A | CA402190313 | ASXL3 | c.4169C>A (p.Thr1390Asn) c.4166C>A (p.Thr1389Asn) c.4046C>A (p.Thr1349Asn) c.4142C>A (p.Thr1381Asn) c.4088C>A (p.Thr1363Asn) c.4049C>A (p.Thr1350Asn) c.3998C>A (p.Thr1333Asn) c.1130C>A (p.Thr377Asn) | |
| 18 | g.33744014C= | CA2294857945 | ASXL3 | c.4169C= (p.Thr1390=) c.4166C= (p.Thr1389=) c.4046C= (p.Thr1349=) c.4142C= (p.Thr1381=) c.4088C= (p.Thr1363=) c.4049C= (p.Thr1350=) c.3998C= (p.Thr1333=) c.1130C= (p.Thr377=) | |
| 18 | g.33744014C>G | CA402190314 | ASXL3 | c.4169C>G (p.Thr1390Ser) c.4166C>G (p.Thr1389Ser) c.4046C>G (p.Thr1349Ser) c.4142C>G (p.Thr1381Ser) c.4088C>G (p.Thr1363Ser) c.4049C>G (p.Thr1350Ser) c.3998C>G (p.Thr1333Ser) c.1130C>G (p.Thr377Ser) | |
| 18 | g.33744014C>T | CA402190315 | ASXL3 | c.4169C>T (p.Thr1390Ile) c.4166C>T (p.Thr1389Ile) c.4046C>T (p.Thr1349Ile) c.4142C>T (p.Thr1381Ile) c.4088C>T (p.Thr1363Ile) c.4049C>T (p.Thr1350Ile) c.3998C>T (p.Thr1333Ile) c.1130C>T (p.Thr377Ile) | dbSNP gnomAD v4 |
| 18 | g.33744014_33744015delinsAA | CA645603031 | ASXL3 | c.4169_4170delinsAA (p.Thr1390Lys) c.4166_4167delinsAA (p.Thr1389Lys) c.4046_4047delinsAA (p.Thr1349Lys) c.4142_4143delinsAA (p.Thr1381Lys) c.4088_4089delinsAA (p.Thr1363Lys) c.4049_4050delinsAA (p.Thr1350Lys) c.3998_3999delinsAA (p.Thr1333Lys) c.1130_1131delinsAA (p.Thr377Lys) | COSMIC |
| 18 | g.33744015C>A | CA503770063 | ASXL3 | c.4170C>A (p.Thr1390=) c.4167C>A (p.Thr1389=) c.4047C>A (p.Thr1349=) c.4143C>A (p.Thr1381=) c.4089C>A (p.Thr1363=) c.4050C>A (p.Thr1350=) c.3999C>A (p.Thr1333=) c.1131C>A (p.Thr377=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33744015C= | CA2294857946 | ASXL3 | c.4170C= (p.Thr1390=) c.4167C= (p.Thr1389=) c.4047C= (p.Thr1349=) c.4143C= (p.Thr1381=) c.4089C= (p.Thr1363=) c.4050C= (p.Thr1350=) c.3999C= (p.Thr1333=) c.1131C= (p.Thr377=) | |
| 18 | g.33744015C>G | CA503770065 | ASXL3 | c.4170C>G (p.Thr1390=) c.4167C>G (p.Thr1389=) c.4047C>G (p.Thr1349=) c.4143C>G (p.Thr1381=) c.4089C>G (p.Thr1363=) c.4050C>G (p.Thr1350=) c.3999C>G (p.Thr1333=) c.1131C>G (p.Thr377=) | |
| 18 | g.33744015C>T | CA297793403 | ASXL3 | c.4170C>T (p.Thr1390=) c.4167C>T (p.Thr1389=) c.4047C>T (p.Thr1349=) c.4143C>T (p.Thr1381=) c.4089C>T (p.Thr1363=) c.4050C>T (p.Thr1350=) c.3999C>T (p.Thr1333=) c.1131C>T (p.Thr377=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744016A>C | CA402190316 | ASXL3 | c.4171A>C (p.Thr1391Pro) c.4168A>C (p.Thr1390Pro) c.4048A>C (p.Thr1350Pro) c.4144A>C (p.Thr1382Pro) c.4090A>C (p.Thr1364Pro) c.4051A>C (p.Thr1351Pro) c.4000A>C (p.Thr1334Pro) c.1132A>C (p.Thr378Pro) | |
| 18 | g.33744016A>G | CA402190317 | ASXL3 | c.4171A>G (p.Thr1391Ala) c.4168A>G (p.Thr1390Ala) c.4048A>G (p.Thr1350Ala) c.4144A>G (p.Thr1382Ala) c.4090A>G (p.Thr1364Ala) c.4051A>G (p.Thr1351Ala) c.4000A>G (p.Thr1334Ala) c.1132A>G (p.Thr378Ala) | |
| 18 | g.33744016A>T | CA402190318 | ASXL3 | c.4171A>T (p.Thr1391Ser) c.4168A>T (p.Thr1390Ser) c.4048A>T (p.Thr1350Ser) c.4144A>T (p.Thr1382Ser) c.4090A>T (p.Thr1364Ser) c.4051A>T (p.Thr1351Ser) c.4000A>T (p.Thr1334Ser) c.1132A>T (p.Thr378Ser) | |
| 18 | g.33744017C>A | CA402190319 | ASXL3 | c.4172C>A (p.Thr1391Asn) c.4169C>A (p.Thr1390Asn) c.4049C>A (p.Thr1350Asn) c.4145C>A (p.Thr1382Asn) c.4091C>A (p.Thr1364Asn) c.4052C>A (p.Thr1351Asn) c.4001C>A (p.Thr1334Asn) c.1133C>A (p.Thr378Asn) | |
| 18 | g.33744017C= | CA2294857947 | ASXL3 | c.4172C= (p.Thr1391=) c.4169C= (p.Thr1390=) c.4049C= (p.Thr1350=) c.4145C= (p.Thr1382=) c.4091C= (p.Thr1364=) c.4052C= (p.Thr1351=) c.4001C= (p.Thr1334=) c.1133C= (p.Thr378=) | |
| 18 | g.33744017C>G | CA402190320 | ASXL3 | c.4172C>G (p.Thr1391Ser) c.4169C>G (p.Thr1390Ser) c.4049C>G (p.Thr1350Ser) c.4145C>G (p.Thr1382Ser) c.4091C>G (p.Thr1364Ser) c.4052C>G (p.Thr1351Ser) c.4001C>G (p.Thr1334Ser) c.1133C>G (p.Thr378Ser) | |
| 18 | g.33744017C>T | CA8934188 | ASXL3 | c.4172C>T (p.Thr1391Ile) c.4169C>T (p.Thr1390Ile) c.4049C>T (p.Thr1350Ile) c.4145C>T (p.Thr1382Ile) c.4091C>T (p.Thr1364Ile) c.4052C>T (p.Thr1351Ile) c.4001C>T (p.Thr1334Ile) c.1133C>T (p.Thr378Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744018T>A | CA503770072 | ASXL3 | c.4173T>A (p.Thr1391=) c.4170T>A (p.Thr1390=) c.4050T>A (p.Thr1350=) c.4146T>A (p.Thr1382=) c.4092T>A (p.Thr1364=) c.4053T>A (p.Thr1351=) c.4002T>A (p.Thr1334=) c.1134T>A (p.Thr378=) | |
| 18 | g.33744018T>C | CA8934189 | ASXL3 | c.4173T>C (p.Thr1391=) c.4170T>C (p.Thr1390=) c.4050T>C (p.Thr1350=) c.4146T>C (p.Thr1382=) c.4092T>C (p.Thr1364=) c.4053T>C (p.Thr1351=) c.4002T>C (p.Thr1334=) c.1134T>C (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744018T>G | CA503770073 | ASXL3 | c.4173T>G (p.Thr1391=) c.4170T>G (p.Thr1390=) c.4050T>G (p.Thr1350=) c.4146T>G (p.Thr1382=) c.4092T>G (p.Thr1364=) c.4053T>G (p.Thr1351=) c.4002T>G (p.Thr1334=) c.1134T>G (p.Thr378=) | |
| 18 | g.33744018T= | CA2294857948 | ASXL3 | c.4173T= (p.Thr1391=) c.4170T= (p.Thr1390=) c.4050T= (p.Thr1350=) c.4146T= (p.Thr1382=) c.4092T= (p.Thr1364=) c.4053T= (p.Thr1351=) c.4002T= (p.Thr1334=) c.1134T= (p.Thr378=) | |
| 18 | g.33744018dup | CA658653631 | ASXL3 | c.4173dup (p.Val1392CysfsTer9) c.4170dup (p.Val1391CysfsTer9) c.4050dup (p.Val1351CysfsTer9) c.4146dup (p.Val1383CysfsTer9) c.4092dup (p.Val1365CysfsTer9) c.4053dup (p.Val1352CysfsTer9) c.4002dup (p.Val1335CysfsTer9) c.1134dup (p.Val379CysfsTer9) | dbSNP |
| 18 | g.33744020_33744021del | CA2695227402 | ASXL3 | c.4175_4176del (p.Val1392GlufsTer8) c.4172_4173del (p.Val1391GlufsTer8) c.4052_4053del (p.Val1351GlufsTer8) c.4148_4149del (p.Val1383GlufsTer8) c.4094_4095del (p.Val1365GlufsTer8) c.4055_4056del (p.Val1352GlufsTer8) c.4004_4005del (p.Val1335GlufsTer8) c.1136_1137del (p.Val379GlufsTer8) | |
| 18 | g.33744019G>A | CA402190321 | ASXL3 | c.4174G>A (p.Val1392Met) c.4171G>A (p.Val1391Met) c.4051G>A (p.Val1351Met) c.4147G>A (p.Val1383Met) c.4093G>A (p.Val1365Met) c.4054G>A (p.Val1352Met) c.4003G>A (p.Val1335Met) c.1135G>A (p.Val379Met) | gnomAD v4 |
| 18 | g.33744019G>C | CA402190322 | ASXL3 | c.4174G>C (p.Val1392Leu) c.4171G>C (p.Val1391Leu) c.4051G>C (p.Val1351Leu) c.4147G>C (p.Val1383Leu) c.4093G>C (p.Val1365Leu) c.4054G>C (p.Val1352Leu) c.4003G>C (p.Val1335Leu) c.1135G>C (p.Val379Leu) | dbSNP |
| 18 | g.33744019G= | CA2294857949 | ASXL3 | c.4174G= (p.Val1392=) c.4171G= (p.Val1391=) c.4051G= (p.Val1351=) c.4147G= (p.Val1383=) c.4093G= (p.Val1365=) c.4054G= (p.Val1352=) c.4003G= (p.Val1335=) c.1135G= (p.Val379=) | |
| 18 | g.33744019G>T | CA402190323 | ASXL3 | c.4174G>T (p.Val1392Leu) c.4171G>T (p.Val1391Leu) c.4051G>T (p.Val1351Leu) c.4147G>T (p.Val1383Leu) c.4093G>T (p.Val1365Leu) c.4054G>T (p.Val1352Leu) c.4003G>T (p.Val1335Leu) c.1135G>T (p.Val379Leu) | |
| 18 | g.33744020T>A | CA402190324 | ASXL3 | c.4175T>A (p.Val1392Glu) c.4172T>A (p.Val1391Glu) c.4052T>A (p.Val1351Glu) c.4148T>A (p.Val1383Glu) c.4094T>A (p.Val1365Glu) c.4055T>A (p.Val1352Glu) c.4004T>A (p.Val1335Glu) c.1136T>A (p.Val379Glu) | gnomAD v4 |
| 18 | g.33744020T>C | CA402190327 | ASXL3 | c.4175T>C (p.Val1392Ala) c.4172T>C (p.Val1391Ala) c.4052T>C (p.Val1351Ala) c.4148T>C (p.Val1383Ala) c.4094T>C (p.Val1365Ala) c.4055T>C (p.Val1352Ala) c.4004T>C (p.Val1335Ala) c.1136T>C (p.Val379Ala) | |
| 18 | g.33744020T>G | CA402190325 | ASXL3 | c.4175T>G (p.Val1392Gly) c.4172T>G (p.Val1391Gly) c.4052T>G (p.Val1351Gly) c.4148T>G (p.Val1383Gly) c.4094T>G (p.Val1365Gly) c.4055T>G (p.Val1352Gly) c.4004T>G (p.Val1335Gly) c.1136T>G (p.Val379Gly) | gnomAD v4 |
| 18 | g.33744021G>A | CA503770075 | ASXL3 | c.4176G>A (p.Val1392=) c.4173G>A (p.Val1391=) c.4053G>A (p.Val1351=) c.4149G>A (p.Val1383=) c.4095G>A (p.Val1365=) c.4056G>A (p.Val1352=) c.4005G>A (p.Val1335=) c.1137G>A (p.Val379=) | gnomAD v4 |
| 18 | g.33744021G>C | CA503770076 | ASXL3 | c.4176G>C (p.Val1392=) c.4173G>C (p.Val1391=) c.4053G>C (p.Val1351=) c.4149G>C (p.Val1383=) c.4095G>C (p.Val1365=) c.4056G>C (p.Val1352=) c.4005G>C (p.Val1335=) c.1137G>C (p.Val379=) | |
| 18 | g.33744021G>T | CA503770079 | ASXL3 | c.4176G>T (p.Val1392=) c.4173G>T (p.Val1391=) c.4053G>T (p.Val1351=) c.4149G>T (p.Val1383=) c.4095G>T (p.Val1365=) c.4056G>T (p.Val1352=) c.4005G>T (p.Val1335=) c.1137G>T (p.Val379=) | |
| 18 | g.33744022A= | CA2294857950 | ASXL3 | c.4177A= (p.Arg1393=) c.4174A= (p.Arg1392=) c.4054A= (p.Arg1352=) c.4150A= (p.Arg1384=) c.4096A= (p.Arg1366=) c.4057A= (p.Arg1353=) c.4006A= (p.Arg1336=) c.1138A= (p.Arg380=) | |
| 18 | g.33744022A>C | CA503770082 | ASXL3 | c.4177A>C (p.Arg1393=) c.4174A>C (p.Arg1392=) c.4054A>C (p.Arg1352=) c.4150A>C (p.Arg1384=) c.4096A>C (p.Arg1366=) c.4057A>C (p.Arg1353=) c.4006A>C (p.Arg1336=) c.1138A>C (p.Arg380=) | |
| 18 | g.33744022A>G | CA297793413 | ASXL3 | c.4177A>G (p.Arg1393Gly) c.4174A>G (p.Arg1392Gly) c.4054A>G (p.Arg1352Gly) c.4150A>G (p.Arg1384Gly) c.4096A>G (p.Arg1366Gly) c.4057A>G (p.Arg1353Gly) c.4006A>G (p.Arg1336Gly) c.1138A>G (p.Arg380Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744022A>T | CA402190330 | ASXL3 | c.4177A>T (p.Arg1393Ter) c.4174A>T (p.Arg1392Ter) c.4054A>T (p.Arg1352Ter) c.4150A>T (p.Arg1384Ter) c.4096A>T (p.Arg1366Ter) c.4057A>T (p.Arg1353Ter) c.4006A>T (p.Arg1336Ter) c.1138A>T (p.Arg380Ter) | |
| 18 | g.33744023G>A | CA402190333 | ASXL3 | c.4178G>A (p.Arg1393Lys) c.4175G>A (p.Arg1392Lys) c.4055G>A (p.Arg1352Lys) c.4151G>A (p.Arg1384Lys) c.4097G>A (p.Arg1366Lys) c.4058G>A (p.Arg1353Lys) c.4007G>A (p.Arg1336Lys) c.1139G>A (p.Arg380Lys) | dbSNP |
| 18 | g.33744023G>C | CA402190335 | ASXL3 | c.4178G>C (p.Arg1393Thr) c.4175G>C (p.Arg1392Thr) c.4055G>C (p.Arg1352Thr) c.4151G>C (p.Arg1384Thr) c.4097G>C (p.Arg1366Thr) c.4058G>C (p.Arg1353Thr) c.4007G>C (p.Arg1336Thr) c.1139G>C (p.Arg380Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744023G= | CA2294857951 | ASXL3 | c.4178G= (p.Arg1393=) c.4175G= (p.Arg1392=) c.4055G= (p.Arg1352=) c.4151G= (p.Arg1384=) c.4097G= (p.Arg1366=) c.4058G= (p.Arg1353=) c.4007G= (p.Arg1336=) c.1139G= (p.Arg380=) | |
| 18 | g.33744023G>T | CA402190337 | ASXL3 | c.4178G>T (p.Arg1393Ile) c.4175G>T (p.Arg1392Ile) c.4055G>T (p.Arg1352Ile) c.4151G>T (p.Arg1384Ile) c.4097G>T (p.Arg1366Ile) c.4058G>T (p.Arg1353Ile) c.4007G>T (p.Arg1336Ile) c.1139G>T (p.Arg380Ile) | |
| 18 | g.33744024A= | CA2294857952 | ASXL3 | c.4179A= (p.Arg1393=) c.4176A= (p.Arg1392=) c.4056A= (p.Arg1352=) c.4152A= (p.Arg1384=) c.4098A= (p.Arg1366=) c.4059A= (p.Arg1353=) c.4008A= (p.Arg1336=) c.1140A= (p.Arg380=) | |
| 18 | g.33744024A>C | CA402190339 | ASXL3 | c.4179A>C (p.Arg1393Ser) c.4176A>C (p.Arg1392Ser) c.4056A>C (p.Arg1352Ser) c.4152A>C (p.Arg1384Ser) c.4098A>C (p.Arg1366Ser) c.4059A>C (p.Arg1353Ser) c.4008A>C (p.Arg1336Ser) c.1140A>C (p.Arg380Ser) | dbSNP gnomAD v2 |
| 18 | g.33744024A>G | CA503770095 | ASXL3 | c.4179A>G (p.Arg1393=) c.4176A>G (p.Arg1392=) c.4056A>G (p.Arg1352=) c.4152A>G (p.Arg1384=) c.4098A>G (p.Arg1366=) c.4059A>G (p.Arg1353=) c.4008A>G (p.Arg1336=) c.1140A>G (p.Arg380=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744024A>T | CA402190341 | ASXL3 | c.4179A>T (p.Arg1393Ser) c.4176A>T (p.Arg1392Ser) c.4056A>T (p.Arg1352Ser) c.4152A>T (p.Arg1384Ser) c.4098A>T (p.Arg1366Ser) c.4059A>T (p.Arg1353Ser) c.4008A>T (p.Arg1336Ser) c.1140A>T (p.Arg380Ser) | |
| 18 | g.33744025G>A | CA402190342 | ASXL3 | c.4180G>A (p.Ala1394Thr) c.4177G>A (p.Ala1393Thr) c.4057G>A (p.Ala1353Thr) c.4153G>A (p.Ala1385Thr) c.4099G>A (p.Ala1367Thr) c.4060G>A (p.Ala1354Thr) c.4009G>A (p.Ala1337Thr) c.1141G>A (p.Ala381Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33744025G>C | CA402190343 | ASXL3 | c.4180G>C (p.Ala1394Pro) c.4177G>C (p.Ala1393Pro) c.4057G>C (p.Ala1353Pro) c.4153G>C (p.Ala1385Pro) c.4099G>C (p.Ala1367Pro) c.4060G>C (p.Ala1354Pro) c.4009G>C (p.Ala1337Pro) c.1141G>C (p.Ala381Pro) | |
| 18 | g.33744025G= | CA2294857953 | ASXL3 | c.4180G= (p.Ala1394=) c.4177G= (p.Ala1393=) c.4057G= (p.Ala1353=) c.4153G= (p.Ala1385=) c.4099G= (p.Ala1367=) c.4060G= (p.Ala1354=) c.4009G= (p.Ala1337=) c.1141G= (p.Ala381=) | |
| 18 | g.33744025G>T | CA402190345 | ASXL3 | c.4180G>T (p.Ala1394Ser) c.4177G>T (p.Ala1393Ser) c.4057G>T (p.Ala1353Ser) c.4153G>T (p.Ala1385Ser) c.4099G>T (p.Ala1367Ser) c.4060G>T (p.Ala1354Ser) c.4009G>T (p.Ala1337Ser) c.1141G>T (p.Ala381Ser) | |
| 18 | g.33744026C>A | CA402190347 | ASXL3 | c.4181C>A (p.Ala1394Glu) c.4178C>A (p.Ala1393Glu) c.4058C>A (p.Ala1353Glu) c.4154C>A (p.Ala1385Glu) c.4100C>A (p.Ala1367Glu) c.4061C>A (p.Ala1354Glu) c.4010C>A (p.Ala1337Glu) c.1142C>A (p.Ala381Glu) | |
| 18 | g.33744026C= | CA2294857954 | ASXL3 | c.4181C= (p.Ala1394=) c.4178C= (p.Ala1393=) c.4058C= (p.Ala1353=) c.4154C= (p.Ala1385=) c.4100C= (p.Ala1367=) c.4061C= (p.Ala1354=) c.4010C= (p.Ala1337=) c.1142C= (p.Ala381=) | |
| 18 | g.33744026C>G | CA402190349 | ASXL3 | c.4181C>G (p.Ala1394Gly) c.4178C>G (p.Ala1393Gly) c.4058C>G (p.Ala1353Gly) c.4154C>G (p.Ala1385Gly) c.4100C>G (p.Ala1367Gly) c.4061C>G (p.Ala1354Gly) c.4010C>G (p.Ala1337Gly) c.1142C>G (p.Ala381Gly) | gnomAD v4 |
| 18 | g.33744026C>T | CA8934190 | ASXL3 | c.4181C>T (p.Ala1394Val) c.4178C>T (p.Ala1393Val) c.4058C>T (p.Ala1353Val) c.4154C>T (p.Ala1385Val) c.4100C>T (p.Ala1367Val) c.4061C>T (p.Ala1354Val) c.4010C>T (p.Ala1337Val) c.1142C>T (p.Ala381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744027A>C | CA503770107 | ASXL3 | c.4182A>C (p.Ala1394=) c.4179A>C (p.Ala1393=) c.4059A>C (p.Ala1353=) c.4155A>C (p.Ala1385=) c.4101A>C (p.Ala1367=) c.4062A>C (p.Ala1354=) c.4011A>C (p.Ala1337=) c.1143A>C (p.Ala381=) | |
| 18 | g.33744027A>G | CA503770110 | ASXL3 | c.4182A>G (p.Ala1394=) c.4179A>G (p.Ala1393=) c.4059A>G (p.Ala1353=) c.4155A>G (p.Ala1385=) c.4101A>G (p.Ala1367=) c.4062A>G (p.Ala1354=) c.4011A>G (p.Ala1337=) c.1143A>G (p.Ala381=) | |
| 18 | g.33744027A>T | CA503770112 | ASXL3 | c.4182A>T (p.Ala1394=) c.4179A>T (p.Ala1393=) c.4059A>T (p.Ala1353=) c.4155A>T (p.Ala1385=) c.4101A>T (p.Ala1367=) c.4062A>T (p.Ala1354=) c.4011A>T (p.Ala1337=) c.1143A>T (p.Ala381=) | |
| 18 | g.33744028G>A | CA402190355 | ASXL3 | c.4183G>A (p.Ala1395Thr) c.4180G>A (p.Ala1394Thr) c.4060G>A (p.Ala1354Thr) c.4156G>A (p.Ala1386Thr) c.4102G>A (p.Ala1368Thr) c.4063G>A (p.Ala1355Thr) c.4012G>A (p.Ala1338Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 |
| 18 | g.33744028G>C | CA402190358 | ASXL3 | c.4183G>C (p.Ala1395Pro) c.4180G>C (p.Ala1394Pro) c.4060G>C (p.Ala1354Pro) c.4156G>C (p.Ala1386Pro) c.4102G>C (p.Ala1368Pro) c.4063G>C (p.Ala1355Pro) c.4012G>C (p.Ala1338Pro) c.1144G>C (p.Ala382Pro) | |
| 18 | g.33744028G>T | CA402190353 | ASXL3 | c.4183G>T (p.Ala1395Ser) c.4180G>T (p.Ala1394Ser) c.4060G>T (p.Ala1354Ser) c.4156G>T (p.Ala1386Ser) c.4102G>T (p.Ala1368Ser) c.4063G>T (p.Ala1355Ser) c.4012G>T (p.Ala1338Ser) c.1144G>T (p.Ala382Ser) | |
| 18 | g.33744028_33744029del | CA2695227403 | ASXL3 | c.4183_4184del (p.Ala1395ProfsTer5) c.4180_4181del (p.Ala1394ProfsTer5) c.4060_4061del (p.Ala1354ProfsTer5) c.4156_4157del (p.Ala1386ProfsTer5) c.4102_4103del (p.Ala1368ProfsTer5) c.4063_4064del (p.Ala1355ProfsTer5) c.4012_4013del (p.Ala1338ProfsTer5) c.1144_1145del (p.Ala382ProfsTer5) | |
| 18 | g.33744029C>A | CA402190363 | ASXL3 | c.4184C>A (p.Ala1395Asp) c.4181C>A (p.Ala1394Asp) c.4061C>A (p.Ala1354Asp) c.4157C>A (p.Ala1386Asp) c.4103C>A (p.Ala1368Asp) c.4064C>A (p.Ala1355Asp) c.4013C>A (p.Ala1338Asp) c.1145C>A (p.Ala382Asp) | |
| 18 | g.33744029C>G | CA402190361 | ASXL3 | c.4184C>G (p.Ala1395Gly) c.4181C>G (p.Ala1394Gly) c.4061C>G (p.Ala1354Gly) c.4157C>G (p.Ala1386Gly) c.4103C>G (p.Ala1368Gly) c.4064C>G (p.Ala1355Gly) c.4013C>G (p.Ala1338Gly) c.1145C>G (p.Ala382Gly) | |
| 18 | g.33744029C>T | CA402190365 | ASXL3 | c.4184C>T (p.Ala1395Val) c.4181C>T (p.Ala1394Val) c.4061C>T (p.Ala1354Val) c.4157C>T (p.Ala1386Val) c.4103C>T (p.Ala1368Val) c.4064C>T (p.Ala1355Val) c.4013C>T (p.Ala1338Val) c.1145C>T (p.Ala382Val) | |
| 18 | g.33744030C>A | CA503770118 | ASXL3 | c.4185C>A (p.Ala1395=) c.4182C>A (p.Ala1394=) c.4062C>A (p.Ala1354=) c.4158C>A (p.Ala1386=) c.4104C>A (p.Ala1368=) c.4065C>A (p.Ala1355=) c.4014C>A (p.Ala1338=) c.1146C>A (p.Ala382=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744030C= | CA2294857955 | ASXL3 | c.4185C= (p.Ala1395=) c.4182C= (p.Ala1394=) c.4062C= (p.Ala1354=) c.4158C= (p.Ala1386=) c.4104C= (p.Ala1368=) c.4065C= (p.Ala1355=) c.4014C= (p.Ala1338=) c.1146C= (p.Ala382=) | |
| 18 | g.33744030C>G | CA503770116 | ASXL3 | c.4185C>G (p.Ala1395=) c.4182C>G (p.Ala1394=) c.4062C>G (p.Ala1354=) c.4158C>G (p.Ala1386=) c.4104C>G (p.Ala1368=) c.4065C>G (p.Ala1355=) c.4014C>G (p.Ala1338=) c.1146C>G (p.Ala382=) | gnomAD v4 |
| 18 | g.33744030C>T | CA503770117 | ASXL3 | c.4185C>T (p.Ala1395=) c.4182C>T (p.Ala1394=) c.4062C>T (p.Ala1354=) c.4158C>T (p.Ala1386=) c.4104C>T (p.Ala1368=) c.4065C>T (p.Ala1355=) c.4014C>T (p.Ala1338=) c.1146C>T (p.Ala382=) |