Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33744199G>A | CA402190728 | ASXL3 | c.4354G>A (p.Gly1452Arg) c.4351G>A (p.Gly1451Arg) c.4231G>A (p.Gly1411Arg) c.4327G>A (p.Gly1443Arg) c.4273G>A (p.Gly1425Arg) c.4234G>A (p.Gly1412Arg) c.4183G>A (p.Gly1395Arg) c.1315G>A (p.Gly439Arg) | |
18 | g.33744199G>C | CA402190727 | ASXL3 | c.4354G>C (p.Gly1452Arg) c.4351G>C (p.Gly1451Arg) c.4231G>C (p.Gly1411Arg) c.4327G>C (p.Gly1443Arg) c.4273G>C (p.Gly1425Arg) c.4234G>C (p.Gly1412Arg) c.4183G>C (p.Gly1395Arg) c.1315G>C (p.Gly439Arg) | |
18 | g.33744199G>T | CA402190726 | ASXL3 | c.4354G>T (p.Gly1452Ter) c.4351G>T (p.Gly1451Ter) c.4231G>T (p.Gly1411Ter) c.4327G>T (p.Gly1443Ter) c.4273G>T (p.Gly1425Ter) c.4234G>T (p.Gly1412Ter) c.4183G>T (p.Gly1395Ter) c.1315G>T (p.Gly439Ter) | |
18 | g.33744200G>A | CA402190729 | ASXL3 | c.4355G>A (p.Gly1452Glu) c.4352G>A (p.Gly1451Glu) c.4232G>A (p.Gly1411Glu) c.4328G>A (p.Gly1443Glu) c.4274G>A (p.Gly1425Glu) c.4235G>A (p.Gly1412Glu) c.4184G>A (p.Gly1395Glu) c.1316G>A (p.Gly439Glu) | |
18 | g.33744200G>C | CA402190730 | ASXL3 | c.4355G>C (p.Gly1452Ala) c.4352G>C (p.Gly1451Ala) c.4232G>C (p.Gly1411Ala) c.4328G>C (p.Gly1443Ala) c.4274G>C (p.Gly1425Ala) c.4235G>C (p.Gly1412Ala) c.4184G>C (p.Gly1395Ala) c.1316G>C (p.Gly439Ala) | |
18 | g.33744200G>T | CA402190731 | ASXL3 | c.4355G>T (p.Gly1452Val) c.4352G>T (p.Gly1451Val) c.4232G>T (p.Gly1411Val) c.4328G>T (p.Gly1443Val) c.4274G>T (p.Gly1425Val) c.4235G>T (p.Gly1412Val) c.4184G>T (p.Gly1395Val) c.1316G>T (p.Gly439Val) | |
18 | g.33744201A>C | CA503770608 | ASXL3 | c.4356A>C (p.Gly1452=) c.4353A>C (p.Gly1451=) c.4233A>C (p.Gly1411=) c.4329A>C (p.Gly1443=) c.4275A>C (p.Gly1425=) c.4236A>C (p.Gly1412=) c.4185A>C (p.Gly1395=) c.1317A>C (p.Gly439=) | |
18 | g.33744201A>G | CA503770604 | ASXL3 | c.4356A>G (p.Gly1452=) c.4353A>G (p.Gly1451=) c.4233A>G (p.Gly1411=) c.4329A>G (p.Gly1443=) c.4275A>G (p.Gly1425=) c.4236A>G (p.Gly1412=) c.4185A>G (p.Gly1395=) c.1317A>G (p.Gly439=) | |
18 | g.33744201A>T | CA503770606 | ASXL3 | c.4356A>T (p.Gly1452=) c.4353A>T (p.Gly1451=) c.4233A>T (p.Gly1411=) c.4329A>T (p.Gly1443=) c.4275A>T (p.Gly1425=) c.4236A>T (p.Gly1412=) c.4185A>T (p.Gly1395=) c.1317A>T (p.Gly439=) | |
18 | g.33744204del | CA2580095668 | ASXL3 | c.4359del (p.Lys1453AsnfsTer14) c.4356del (p.Lys1452AsnfsTer14) c.4236del (p.Lys1412AsnfsTer14) c.4332del (p.Lys1444AsnfsTer14) c.4278del (p.Lys1426AsnfsTer14) c.4239del (p.Lys1413AsnfsTer14) c.4188del (p.Lys1396AsnfsTer14) c.1320del (p.Lys440AsnfsTer14) | ClinVar |
18 | g.33744202A>C | CA402190732 | ASXL3 | c.4357A>C (p.Lys1453Gln) c.4354A>C (p.Lys1452Gln) c.4234A>C (p.Lys1412Gln) c.4330A>C (p.Lys1444Gln) c.4276A>C (p.Lys1426Gln) c.4237A>C (p.Lys1413Gln) c.4186A>C (p.Lys1396Gln) c.1318A>C (p.Lys440Gln) | |
18 | g.33744202A>G | CA402190733 | ASXL3 | c.4357A>G (p.Lys1453Glu) c.4354A>G (p.Lys1452Glu) c.4234A>G (p.Lys1412Glu) c.4330A>G (p.Lys1444Glu) c.4276A>G (p.Lys1426Glu) c.4237A>G (p.Lys1413Glu) c.4186A>G (p.Lys1396Glu) c.1318A>G (p.Lys440Glu) | |
18 | g.33744202A>T | CA402190734 | ASXL3 | c.4357A>T (p.Lys1453Ter) c.4354A>T (p.Lys1452Ter) c.4234A>T (p.Lys1412Ter) c.4330A>T (p.Lys1444Ter) c.4276A>T (p.Lys1426Ter) c.4237A>T (p.Lys1413Ter) c.4186A>T (p.Lys1396Ter) c.1318A>T (p.Lys440Ter) | |
18 | g.33744203A>C | CA402190735 | ASXL3 | c.4358A>C (p.Lys1453Thr) c.4355A>C (p.Lys1452Thr) c.4235A>C (p.Lys1412Thr) c.4331A>C (p.Lys1444Thr) c.4277A>C (p.Lys1426Thr) c.4238A>C (p.Lys1413Thr) c.4187A>C (p.Lys1396Thr) c.1319A>C (p.Lys440Thr) | gnomAD v4 |
18 | g.33744203A>G | CA402190737 | ASXL3 | c.4358A>G (p.Lys1453Arg) c.4355A>G (p.Lys1452Arg) c.4235A>G (p.Lys1412Arg) c.4331A>G (p.Lys1444Arg) c.4277A>G (p.Lys1426Arg) c.4238A>G (p.Lys1413Arg) c.4187A>G (p.Lys1396Arg) c.1319A>G (p.Lys440Arg) | |
18 | g.33744203A>T | CA402190736 | ASXL3 | c.4358A>T (p.Lys1453Ile) c.4355A>T (p.Lys1452Ile) c.4235A>T (p.Lys1412Ile) c.4331A>T (p.Lys1444Ile) c.4277A>T (p.Lys1426Ile) c.4238A>T (p.Lys1413Ile) c.4187A>T (p.Lys1396Ile) c.1319A>T (p.Lys440Ile) | |
18 | g.33744204A>C | CA402190738 | ASXL3 | c.4359A>C (p.Lys1453Asn) c.4356A>C (p.Lys1452Asn) c.4236A>C (p.Lys1412Asn) c.4332A>C (p.Lys1444Asn) c.4278A>C (p.Lys1426Asn) c.4239A>C (p.Lys1413Asn) c.4188A>C (p.Lys1396Asn) c.1320A>C (p.Lys440Asn) | gnomAD v4 |
18 | g.33744204A>G | CA503770612 | ASXL3 | c.4359A>G (p.Lys1453=) c.4356A>G (p.Lys1452=) c.4236A>G (p.Lys1412=) c.4332A>G (p.Lys1444=) c.4278A>G (p.Lys1426=) c.4239A>G (p.Lys1413=) c.4188A>G (p.Lys1396=) c.1320A>G (p.Lys440=) | |
18 | g.33744204A>T | CA402190739 | ASXL3 | c.4359A>T (p.Lys1453Asn) c.4356A>T (p.Lys1452Asn) c.4236A>T (p.Lys1412Asn) c.4332A>T (p.Lys1444Asn) c.4278A>T (p.Lys1426Asn) c.4239A>T (p.Lys1413Asn) c.4188A>T (p.Lys1396Asn) c.1320A>T (p.Lys440Asn) | |
18 | g.33744205C>A | CA402190740 | ASXL3 | c.4360C>A (p.Pro1454Thr) c.4357C>A (p.Pro1453Thr) c.4237C>A (p.Pro1413Thr) c.4333C>A (p.Pro1445Thr) c.4279C>A (p.Pro1427Thr) c.4240C>A (p.Pro1414Thr) c.4189C>A (p.Pro1397Thr) c.1321C>A (p.Pro441Thr) | |
18 | g.33744205C= | CA2294858041 | ASXL3 | c.4360C= (p.Pro1454=) c.4357C= (p.Pro1453=) c.4237C= (p.Pro1413=) c.4333C= (p.Pro1445=) c.4279C= (p.Pro1427=) c.4240C= (p.Pro1414=) c.4189C= (p.Pro1397=) c.1321C= (p.Pro441=) | |
18 | g.33744205C>G | CA402190741 | ASXL3 | c.4360C>G (p.Pro1454Ala) c.4357C>G (p.Pro1453Ala) c.4237C>G (p.Pro1413Ala) c.4333C>G (p.Pro1445Ala) c.4279C>G (p.Pro1427Ala) c.4240C>G (p.Pro1414Ala) c.4189C>G (p.Pro1397Ala) c.1321C>G (p.Pro441Ala) | |
18 | g.33744205C>T | CA402190742 | ASXL3 | c.4360C>T (p.Pro1454Ser) c.4357C>T (p.Pro1453Ser) c.4237C>T (p.Pro1413Ser) c.4333C>T (p.Pro1445Ser) c.4279C>T (p.Pro1427Ser) c.4240C>T (p.Pro1414Ser) c.4189C>T (p.Pro1397Ser) c.1321C>T (p.Pro441Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744206C>A | CA402190743 | ASXL3 | c.4361C>A (p.Pro1454His) c.4358C>A (p.Pro1453His) c.4238C>A (p.Pro1413His) c.4334C>A (p.Pro1445His) c.4280C>A (p.Pro1427His) c.4241C>A (p.Pro1414His) c.4190C>A (p.Pro1397His) c.1322C>A (p.Pro441His) | |
18 | g.33744206C>G | CA402190744 | ASXL3 | c.4361C>G (p.Pro1454Arg) c.4358C>G (p.Pro1453Arg) c.4238C>G (p.Pro1413Arg) c.4334C>G (p.Pro1445Arg) c.4280C>G (p.Pro1427Arg) c.4241C>G (p.Pro1414Arg) c.4190C>G (p.Pro1397Arg) c.1322C>G (p.Pro441Arg) | |
18 | g.33744206C>T | CA402190745 | ASXL3 | c.4361C>T (p.Pro1454Leu) c.4358C>T (p.Pro1453Leu) c.4238C>T (p.Pro1413Leu) c.4334C>T (p.Pro1445Leu) c.4280C>T (p.Pro1427Leu) c.4241C>T (p.Pro1414Leu) c.4190C>T (p.Pro1397Leu) c.1322C>T (p.Pro441Leu) | |
18 | g.33744207T>A | CA503770623 | ASXL3 | c.4362T>A (p.Pro1454=) c.4359T>A (p.Pro1453=) c.4239T>A (p.Pro1413=) c.4335T>A (p.Pro1445=) c.4281T>A (p.Pro1427=) c.4242T>A (p.Pro1414=) c.4191T>A (p.Pro1397=) c.1323T>A (p.Pro441=) | |
18 | g.33744207T>C | CA503770626 | ASXL3 | c.4362T>C (p.Pro1454=) c.4359T>C (p.Pro1453=) c.4239T>C (p.Pro1413=) c.4335T>C (p.Pro1445=) c.4281T>C (p.Pro1427=) c.4242T>C (p.Pro1414=) c.4191T>C (p.Pro1397=) c.1323T>C (p.Pro441=) | |
18 | g.33744207T>G | CA8934245 | ASXL3 | c.4362T>G (p.Pro1454=) c.4359T>G (p.Pro1453=) c.4239T>G (p.Pro1413=) c.4335T>G (p.Pro1445=) c.4281T>G (p.Pro1427=) c.4242T>G (p.Pro1414=) c.4191T>G (p.Pro1397=) c.1323T>G (p.Pro441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744207T= | CA2294858042 | ASXL3 | c.4362T= (p.Pro1454=) c.4359T= (p.Pro1453=) c.4239T= (p.Pro1413=) c.4335T= (p.Pro1445=) c.4281T= (p.Pro1427=) c.4242T= (p.Pro1414=) c.4191T= (p.Pro1397=) c.1323T= (p.Pro441=) | |
18 | g.33744208C>A | CA402190746 | ASXL3 | c.4363C>A (p.Gln1455Lys) c.4360C>A (p.Gln1454Lys) c.4240C>A (p.Gln1414Lys) c.4336C>A (p.Gln1446Lys) c.4282C>A (p.Gln1428Lys) c.4243C>A (p.Gln1415Lys) c.4192C>A (p.Gln1398Lys) c.1324C>A (p.Gln442Lys) | |
18 | g.33744208C= | CA2294858043 | ASXL3 | c.4363C= (p.Gln1455=) c.4360C= (p.Gln1454=) c.4240C= (p.Gln1414=) c.4336C= (p.Gln1446=) c.4282C= (p.Gln1428=) c.4243C= (p.Gln1415=) c.4192C= (p.Gln1398=) c.1324C= (p.Gln442=) | |
18 | g.33744208C>G | CA402190747 | ASXL3 | c.4363C>G (p.Gln1455Glu) c.4360C>G (p.Gln1454Glu) c.4240C>G (p.Gln1414Glu) c.4336C>G (p.Gln1446Glu) c.4282C>G (p.Gln1428Glu) c.4243C>G (p.Gln1415Glu) c.4192C>G (p.Gln1398Glu) c.1324C>G (p.Gln442Glu) | |
18 | g.33744208C>T | CA16620687 | ASXL3 | c.4363C>T (p.Gln1455Ter) c.4360C>T (p.Gln1454Ter) c.4240C>T (p.Gln1414Ter) c.4336C>T (p.Gln1446Ter) c.4282C>T (p.Gln1428Ter) c.4243C>T (p.Gln1415Ter) c.4192C>T (p.Gln1398Ter) c.1324C>T (p.Gln442Ter) | ClinVar dbSNP |
18 | g.33744209A>C | CA402190749 | ASXL3 | c.4364A>C (p.Gln1455Pro) c.4361A>C (p.Gln1454Pro) c.4241A>C (p.Gln1414Pro) c.4337A>C (p.Gln1446Pro) c.4283A>C (p.Gln1428Pro) c.4244A>C (p.Gln1415Pro) c.4193A>C (p.Gln1398Pro) c.1325A>C (p.Gln442Pro) | |
18 | g.33744209A>G | CA402190750 | ASXL3 | c.4364A>G (p.Gln1455Arg) c.4361A>G (p.Gln1454Arg) c.4241A>G (p.Gln1414Arg) c.4337A>G (p.Gln1446Arg) c.4283A>G (p.Gln1428Arg) c.4244A>G (p.Gln1415Arg) c.4193A>G (p.Gln1398Arg) c.1325A>G (p.Gln442Arg) | |
18 | g.33744209A>T | CA402190748 | ASXL3 | c.4364A>T (p.Gln1455Leu) c.4361A>T (p.Gln1454Leu) c.4241A>T (p.Gln1414Leu) c.4337A>T (p.Gln1446Leu) c.4283A>T (p.Gln1428Leu) c.4244A>T (p.Gln1415Leu) c.4193A>T (p.Gln1398Leu) c.1325A>T (p.Gln442Leu) | |
18 | g.33744210G>A | CA503770630 | ASXL3 | c.4365G>A (p.Gln1455=) c.4362G>A (p.Gln1454=) c.4242G>A (p.Gln1414=) c.4338G>A (p.Gln1446=) c.4284G>A (p.Gln1428=) c.4245G>A (p.Gln1415=) c.4194G>A (p.Gln1398=) c.1326G>A (p.Gln442=) | gnomAD v4 |
18 | g.33744210G>C | CA402190751 | ASXL3 | c.4365G>C (p.Gln1455His) c.4362G>C (p.Gln1454His) c.4242G>C (p.Gln1414His) c.4338G>C (p.Gln1446His) c.4284G>C (p.Gln1428His) c.4245G>C (p.Gln1415His) c.4194G>C (p.Gln1398His) c.1326G>C (p.Gln442His) | |
18 | g.33744210G>T | CA402190752 | ASXL3 | c.4365G>T (p.Gln1455His) c.4362G>T (p.Gln1454His) c.4242G>T (p.Gln1414His) c.4338G>T (p.Gln1446His) c.4284G>T (p.Gln1428His) c.4245G>T (p.Gln1415His) c.4194G>T (p.Gln1398His) c.1326G>T (p.Gln442His) | |
18 | g.33744211C>A | CA402190753 | ASXL3 | c.4366C>A (p.Gln1456Lys) c.4363C>A (p.Gln1455Lys) c.4243C>A (p.Gln1415Lys) c.4339C>A (p.Gln1447Lys) c.4285C>A (p.Gln1429Lys) c.4246C>A (p.Gln1416Lys) c.4195C>A (p.Gln1399Lys) c.1327C>A (p.Gln443Lys) | |
18 | g.33744211C>G | CA402190754 | ASXL3 | c.4366C>G (p.Gln1456Glu) c.4363C>G (p.Gln1455Glu) c.4243C>G (p.Gln1415Glu) c.4339C>G (p.Gln1447Glu) c.4285C>G (p.Gln1429Glu) c.4246C>G (p.Gln1416Glu) c.4195C>G (p.Gln1399Glu) c.1327C>G (p.Gln443Glu) | |
18 | g.33744211C>T | CA402190755 | ASXL3 | c.4366C>T (p.Gln1456Ter) c.4363C>T (p.Gln1455Ter) c.4243C>T (p.Gln1415Ter) c.4339C>T (p.Gln1447Ter) c.4285C>T (p.Gln1429Ter) c.4246C>T (p.Gln1416Ter) c.4195C>T (p.Gln1399Ter) c.1327C>T (p.Gln443Ter) | |
18 | g.33744212A>C | CA402190758 | ASXL3 | c.4367A>C (p.Gln1456Pro) c.4364A>C (p.Gln1455Pro) c.4244A>C (p.Gln1415Pro) c.4340A>C (p.Gln1447Pro) c.4286A>C (p.Gln1429Pro) c.4247A>C (p.Gln1416Pro) c.4196A>C (p.Gln1399Pro) c.1328A>C (p.Gln443Pro) | |
18 | g.33744212A>G | CA402190756 | ASXL3 | c.4367A>G (p.Gln1456Arg) c.4364A>G (p.Gln1455Arg) c.4244A>G (p.Gln1415Arg) c.4340A>G (p.Gln1447Arg) c.4286A>G (p.Gln1429Arg) c.4247A>G (p.Gln1416Arg) c.4196A>G (p.Gln1399Arg) c.1328A>G (p.Gln443Arg) | |
18 | g.33744212A>T | CA402190757 | ASXL3 | c.4367A>T (p.Gln1456Leu) c.4364A>T (p.Gln1455Leu) c.4244A>T (p.Gln1415Leu) c.4340A>T (p.Gln1447Leu) c.4286A>T (p.Gln1429Leu) c.4247A>T (p.Gln1416Leu) c.4196A>T (p.Gln1399Leu) c.1328A>T (p.Gln443Leu) | |
18 | g.33744213A>C | CA402190759 | ASXL3 | c.4368A>C (p.Gln1456His) c.4365A>C (p.Gln1455His) c.4245A>C (p.Gln1415His) c.4341A>C (p.Gln1447His) c.4287A>C (p.Gln1429His) c.4248A>C (p.Gln1416His) c.4197A>C (p.Gln1399His) c.1329A>C (p.Gln443His) | |
18 | g.33744213A>G | CA503770639 | ASXL3 | c.4368A>G (p.Gln1456=) c.4365A>G (p.Gln1455=) c.4245A>G (p.Gln1415=) c.4341A>G (p.Gln1447=) c.4287A>G (p.Gln1429=) c.4248A>G (p.Gln1416=) c.4197A>G (p.Gln1399=) c.1329A>G (p.Gln443=) | |
18 | g.33744213A>T | CA402190760 | ASXL3 | c.4368A>T (p.Gln1456His) c.4365A>T (p.Gln1455His) c.4245A>T (p.Gln1415His) c.4341A>T (p.Gln1447His) c.4287A>T (p.Gln1429His) c.4248A>T (p.Gln1416His) c.4197A>T (p.Gln1399His) c.1329A>T (p.Gln443His) | |
18 | g.33744214C>A | CA402190761 | ASXL3 | c.4369C>A (p.Pro1457Thr) c.4366C>A (p.Pro1456Thr) c.4246C>A (p.Pro1416Thr) c.4342C>A (p.Pro1448Thr) c.4288C>A (p.Pro1430Thr) c.4249C>A (p.Pro1417Thr) c.4198C>A (p.Pro1400Thr) c.1330C>A (p.Pro444Thr) | |
18 | g.33744214C= | CA2294858044 | ASXL3 | c.4369C= (p.Pro1457=) c.4366C= (p.Pro1456=) c.4246C= (p.Pro1416=) c.4342C= (p.Pro1448=) c.4288C= (p.Pro1430=) c.4249C= (p.Pro1417=) c.4198C= (p.Pro1400=) c.1330C= (p.Pro444=) | |
18 | g.33744214C>G | CA8934246 | ASXL3 | c.4369C>G (p.Pro1457Ala) c.4366C>G (p.Pro1456Ala) c.4246C>G (p.Pro1416Ala) c.4342C>G (p.Pro1448Ala) c.4288C>G (p.Pro1430Ala) c.4249C>G (p.Pro1417Ala) c.4198C>G (p.Pro1400Ala) c.1330C>G (p.Pro444Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744214C>T | CA402190762 | ASXL3 | c.4369C>T (p.Pro1457Ser) c.4366C>T (p.Pro1456Ser) c.4246C>T (p.Pro1416Ser) c.4342C>T (p.Pro1448Ser) c.4288C>T (p.Pro1430Ser) c.4249C>T (p.Pro1417Ser) c.4198C>T (p.Pro1400Ser) c.1330C>T (p.Pro444Ser) | |
18 | g.33744214_33744229delinsCCACCAGGGGGCTTTG | CA2294858045 | ASXL3 | c.4369_4384delinsCCACCAGGGGGCTTTG (p.Pro1457=) c.4366_4381delinsCCACCAGGGGGCTTTG (p.Pro1456=) c.4246_4261delinsCCACCAGGGGGCTTTG (p.Pro1416=) c.4342_4357delinsCCACCAGGGGGCTTTG (p.Pro1448=) c.4288_4303delinsCCACCAGGGGGCTTTG (p.Pro1430=) c.4249_4264delinsCCACCAGGGGGCTTTG (p.Pro1417=) c.4198_4213delinsCCACCAGGGGGCTTTG (p.Pro1400=) c.1330_1345delinsCCACCAGGGGGCTTTG (p.Pro444=) | |
18 | g.33744215C>A | CA402190763 | ASXL3 | c.4370C>A (p.Pro1457Gln) c.4367C>A (p.Pro1456Gln) c.4247C>A (p.Pro1416Gln) c.4343C>A (p.Pro1448Gln) c.4289C>A (p.Pro1430Gln) c.4250C>A (p.Pro1417Gln) c.4199C>A (p.Pro1400Gln) c.1331C>A (p.Pro444Gln) | |
18 | g.33744215C>G | CA402190764 | ASXL3 | c.4370C>G (p.Pro1457Arg) c.4367C>G (p.Pro1456Arg) c.4247C>G (p.Pro1416Arg) c.4343C>G (p.Pro1448Arg) c.4289C>G (p.Pro1430Arg) c.4250C>G (p.Pro1417Arg) c.4199C>G (p.Pro1400Arg) c.1331C>G (p.Pro444Arg) | |
18 | g.33744215C>T | CA402190765 | ASXL3 | c.4370C>T (p.Pro1457Leu) c.4367C>T (p.Pro1456Leu) c.4247C>T (p.Pro1416Leu) c.4343C>T (p.Pro1448Leu) c.4289C>T (p.Pro1430Leu) c.4250C>T (p.Pro1417Leu) c.4199C>T (p.Pro1400Leu) c.1331C>T (p.Pro444Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.33744221_33744235del | CA8934247 | ASXL3 | c.4376_4390del (p.Gly1459_Pro1463del) c.4373_4387del (p.Gly1458_Pro1462del) c.4253_4267del (p.Gly1418_Pro1422del) c.4349_4363del (p.Gly1450_Pro1454del) c.4295_4309del (p.Gly1432_Pro1436del) c.4256_4270del (p.Gly1419_Pro1423del) c.4205_4219del (p.Gly1402_Pro1406del) c.1337_1351del (p.Gly446_Pro450del) | dbSNP ExAC gnomAD v4 |
18 | g.33744216A>C | CA503770068 | ASXL3 | c.4371A>C (p.Pro1457=) c.4368A>C (p.Pro1456=) c.4248A>C (p.Pro1416=) c.4344A>C (p.Pro1448=) c.4290A>C (p.Pro1430=) c.4251A>C (p.Pro1417=) c.4200A>C (p.Pro1400=) c.1332A>C (p.Pro444=) | |
18 | g.33744216A>G | CA503770097 | ASXL3 | c.4371A>G (p.Pro1457=) c.4368A>G (p.Pro1456=) c.4248A>G (p.Pro1416=) c.4344A>G (p.Pro1448=) c.4290A>G (p.Pro1430=) c.4251A>G (p.Pro1417=) c.4200A>G (p.Pro1400=) c.1332A>G (p.Pro444=) | |
18 | g.33744216A>T | CA503770064 | ASXL3 | c.4371A>T (p.Pro1457=) c.4368A>T (p.Pro1456=) c.4248A>T (p.Pro1416=) c.4344A>T (p.Pro1448=) c.4290A>T (p.Pro1430=) c.4251A>T (p.Pro1417=) c.4200A>T (p.Pro1400=) c.1332A>T (p.Pro444=) | |
18 | g.33744217C>A | CA402190768 | ASXL3 | c.4372C>A (p.Pro1458Thr) c.4369C>A (p.Pro1457Thr) c.4249C>A (p.Pro1417Thr) c.4345C>A (p.Pro1449Thr) c.4291C>A (p.Pro1431Thr) c.4252C>A (p.Pro1418Thr) c.4201C>A (p.Pro1401Thr) c.1333C>A (p.Pro445Thr) | |
18 | g.33744217C>G | CA402190766 | ASXL3 | c.4372C>G (p.Pro1458Ala) c.4369C>G (p.Pro1457Ala) c.4249C>G (p.Pro1417Ala) c.4345C>G (p.Pro1449Ala) c.4291C>G (p.Pro1431Ala) c.4252C>G (p.Pro1418Ala) c.4201C>G (p.Pro1401Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
18 | g.33744217C>T | CA402190767 | ASXL3 | c.4372C>T (p.Pro1458Ser) c.4369C>T (p.Pro1457Ser) c.4249C>T (p.Pro1417Ser) c.4345C>T (p.Pro1449Ser) c.4291C>T (p.Pro1431Ser) c.4252C>T (p.Pro1418Ser) c.4201C>T (p.Pro1401Ser) c.1333C>T (p.Pro445Ser) | |
18 | g.33744218C>A | CA402190769 | ASXL3 | c.4373C>A (p.Pro1458Gln) c.4370C>A (p.Pro1457Gln) c.4250C>A (p.Pro1417Gln) c.4346C>A (p.Pro1449Gln) c.4292C>A (p.Pro1431Gln) c.4253C>A (p.Pro1418Gln) c.4202C>A (p.Pro1401Gln) c.1334C>A (p.Pro445Gln) | |
18 | g.33744218C= | CA2294858046 | ASXL3 | c.4373C= (p.Pro1458=) c.4370C= (p.Pro1457=) c.4250C= (p.Pro1417=) c.4346C= (p.Pro1449=) c.4292C= (p.Pro1431=) c.4253C= (p.Pro1418=) c.4202C= (p.Pro1401=) c.1334C= (p.Pro445=) | |
18 | g.33744218C>G | CA402190770 | ASXL3 | c.4373C>G (p.Pro1458Arg) c.4370C>G (p.Pro1457Arg) c.4250C>G (p.Pro1417Arg) c.4346C>G (p.Pro1449Arg) c.4292C>G (p.Pro1431Arg) c.4253C>G (p.Pro1418Arg) c.4202C>G (p.Pro1401Arg) c.1334C>G (p.Pro445Arg) | dbSNP |
18 | g.33744218C>T | CA402190771 | ASXL3 | c.4373C>T (p.Pro1458Leu) c.4370C>T (p.Pro1457Leu) c.4250C>T (p.Pro1417Leu) c.4346C>T (p.Pro1449Leu) c.4292C>T (p.Pro1431Leu) c.4253C>T (p.Pro1418Leu) c.4202C>T (p.Pro1401Leu) c.1334C>T (p.Pro445Leu) | |
18 | g.33744219A>C | CA503770102 | ASXL3 | c.4374A>C (p.Pro1458=) c.4371A>C (p.Pro1457=) c.4251A>C (p.Pro1417=) c.4347A>C (p.Pro1449=) c.4293A>C (p.Pro1431=) c.4254A>C (p.Pro1418=) c.4203A>C (p.Pro1401=) c.1335A>C (p.Pro445=) | |
18 | g.33744219A>G | CA503770103 | ASXL3 | c.4374A>G (p.Pro1458=) c.4371A>G (p.Pro1457=) c.4251A>G (p.Pro1417=) c.4347A>G (p.Pro1449=) c.4293A>G (p.Pro1431=) c.4254A>G (p.Pro1418=) c.4203A>G (p.Pro1401=) c.1335A>G (p.Pro445=) | |
18 | g.33744219A>T | CA503770104 | ASXL3 | c.4374A>T (p.Pro1458=) c.4371A>T (p.Pro1457=) c.4251A>T (p.Pro1417=) c.4347A>T (p.Pro1449=) c.4293A>T (p.Pro1431=) c.4254A>T (p.Pro1418=) c.4203A>T (p.Pro1401=) c.1335A>T (p.Pro445=) | |
18 | g.33744219_33744220delinsAG | CA2294858047 | ASXL3 | c.4374_4375delinsAG (p.Pro1458=) c.4371_4372delinsAG (p.Pro1457=) c.4251_4252delinsAG (p.Pro1417=) c.4347_4348delinsAG (p.Pro1449=) c.4293_4294delinsAG (p.Pro1431=) c.4254_4255delinsAG (p.Pro1418=) c.4203_4204delinsAG (p.Pro1401=) c.1335_1336delinsAG (p.Pro445=) | |
18 | g.33744220G>A | CA402190772 | ASXL3 | c.4375G>A (p.Gly1459Arg) c.4372G>A (p.Gly1458Arg) c.4252G>A (p.Gly1418Arg) c.4348G>A (p.Gly1450Arg) c.4294G>A (p.Gly1432Arg) c.4255G>A (p.Gly1419Arg) c.4204G>A (p.Gly1402Arg) c.1336G>A (p.Gly446Arg) | COSMIC |
18 | g.33744220G>C | CA402190773 | ASXL3 | c.4375G>C (p.Gly1459Arg) c.4372G>C (p.Gly1458Arg) c.4252G>C (p.Gly1418Arg) c.4348G>C (p.Gly1450Arg) c.4294G>C (p.Gly1432Arg) c.4255G>C (p.Gly1419Arg) c.4204G>C (p.Gly1402Arg) c.1336G>C (p.Gly446Arg) | |
18 | g.33744220G>T | CA402190774 | ASXL3 | c.4375G>T (p.Gly1459Trp) c.4372G>T (p.Gly1458Trp) c.4252G>T (p.Gly1418Trp) c.4348G>T (p.Gly1450Trp) c.4294G>T (p.Gly1432Trp) c.4255G>T (p.Gly1419Trp) c.4204G>T (p.Gly1402Trp) c.1336G>T (p.Gly446Trp) | |
18 | g.33744224dup | CA2832577465 | ASXL3 | c.4379dup (p.Phe1461LeufsTer13) c.4376dup (p.Phe1460LeufsTer13) c.4256dup (p.Phe1420LeufsTer13) c.4352dup (p.Phe1452LeufsTer13) c.4298dup (p.Phe1434LeufsTer13) c.4259dup (p.Phe1421LeufsTer13) c.4208dup (p.Phe1404LeufsTer13) c.1340dup (p.Phe448LeufsTer13) | |
18 | g.33744224del | CA915952508 | ASXL3 | c.4379del (p.Gly1460AlafsTer7) c.4376del (p.Gly1459AlafsTer7) c.4256del (p.Gly1419AlafsTer7) c.4352del (p.Gly1451AlafsTer7) c.4298del (p.Gly1433AlafsTer7) c.4259del (p.Gly1420AlafsTer7) c.4208del (p.Gly1403AlafsTer7) c.1340del (p.Gly447AlafsTer7) | ClinVar dbSNP |
18 | g.33744221G>A | CA402190775 | ASXL3 | c.4376G>A (p.Gly1459Glu) c.4373G>A (p.Gly1458Glu) c.4253G>A (p.Gly1418Glu) c.4349G>A (p.Gly1450Glu) c.4295G>A (p.Gly1432Glu) c.4256G>A (p.Gly1419Glu) c.4205G>A (p.Gly1402Glu) c.1337G>A (p.Gly446Glu) | |
18 | g.33744221G>C | CA402190776 | ASXL3 | c.4376G>C (p.Gly1459Ala) c.4373G>C (p.Gly1458Ala) c.4253G>C (p.Gly1418Ala) c.4349G>C (p.Gly1450Ala) c.4295G>C (p.Gly1432Ala) c.4256G>C (p.Gly1419Ala) c.4205G>C (p.Gly1402Ala) c.1337G>C (p.Gly446Ala) | |
18 | g.33744221G>T | CA402190777 | ASXL3 | c.4376G>T (p.Gly1459Val) c.4373G>T (p.Gly1458Val) c.4253G>T (p.Gly1418Val) c.4349G>T (p.Gly1450Val) c.4295G>T (p.Gly1432Val) c.4256G>T (p.Gly1419Val) c.4205G>T (p.Gly1402Val) c.1337G>T (p.Gly446Val) | |
18 | g.33744222G>A | CA503770115 | ASXL3 | c.4377G>A (p.Gly1459=) c.4374G>A (p.Gly1458=) c.4254G>A (p.Gly1418=) c.4350G>A (p.Gly1450=) c.4296G>A (p.Gly1432=) c.4257G>A (p.Gly1419=) c.4206G>A (p.Gly1402=) c.1338G>A (p.Gly446=) | dbSNP gnomAD v4 |
18 | g.33744222G>C | CA503770120 | ASXL3 | c.4377G>C (p.Gly1459=) c.4374G>C (p.Gly1458=) c.4254G>C (p.Gly1418=) c.4350G>C (p.Gly1450=) c.4296G>C (p.Gly1432=) c.4257G>C (p.Gly1419=) c.4206G>C (p.Gly1402=) c.1338G>C (p.Gly446=) | |
18 | g.33744222G>T | CA503770122 | ASXL3 | c.4377G>T (p.Gly1459=) c.4374G>T (p.Gly1458=) c.4254G>T (p.Gly1418=) c.4350G>T (p.Gly1450=) c.4296G>T (p.Gly1432=) c.4257G>T (p.Gly1419=) c.4206G>T (p.Gly1402=) c.1338G>T (p.Gly446=) | |
18 | g.33744223G>A | CA402190780 | ASXL3 | c.4378G>A (p.Gly1460Ser) c.4375G>A (p.Gly1459Ser) c.4255G>A (p.Gly1419Ser) c.4351G>A (p.Gly1451Ser) c.4297G>A (p.Gly1433Ser) c.4258G>A (p.Gly1420Ser) c.4207G>A (p.Gly1403Ser) c.1339G>A (p.Gly447Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744223G>C | CA402190779 | ASXL3 | c.4378G>C (p.Gly1460Arg) c.4375G>C (p.Gly1459Arg) c.4255G>C (p.Gly1419Arg) c.4351G>C (p.Gly1451Arg) c.4297G>C (p.Gly1433Arg) c.4258G>C (p.Gly1420Arg) c.4207G>C (p.Gly1403Arg) c.1339G>C (p.Gly447Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744223G= | CA2294858048 | ASXL3 | c.4378G= (p.Gly1460=) c.4375G= (p.Gly1459=) c.4255G= (p.Gly1419=) c.4351G= (p.Gly1451=) c.4297G= (p.Gly1433=) c.4258G= (p.Gly1420=) c.4207G= (p.Gly1403=) c.1339G= (p.Gly447=) | |
18 | g.33744223G>T | CA402190778 | ASXL3 | c.4378G>T (p.Gly1460Cys) c.4375G>T (p.Gly1459Cys) c.4255G>T (p.Gly1419Cys) c.4351G>T (p.Gly1451Cys) c.4297G>T (p.Gly1433Cys) c.4258G>T (p.Gly1420Cys) c.4207G>T (p.Gly1403Cys) c.1339G>T (p.Gly447Cys) | gnomAD v4 COSMIC |
18 | g.33744224G>A | CA402190781 | ASXL3 | c.4379G>A (p.Gly1460Asp) c.4376G>A (p.Gly1459Asp) c.4256G>A (p.Gly1419Asp) c.4352G>A (p.Gly1451Asp) c.4298G>A (p.Gly1433Asp) c.4259G>A (p.Gly1420Asp) c.4208G>A (p.Gly1403Asp) c.1340G>A (p.Gly447Asp) | gnomAD v4 |
18 | g.33744224G>C | CA8934248 | ASXL3 | c.4379G>C (p.Gly1460Ala) c.4376G>C (p.Gly1459Ala) c.4256G>C (p.Gly1419Ala) c.4352G>C (p.Gly1451Ala) c.4298G>C (p.Gly1433Ala) c.4259G>C (p.Gly1420Ala) c.4208G>C (p.Gly1403Ala) c.1340G>C (p.Gly447Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744224G= | CA2294858049 | ASXL3 | c.4379G= (p.Gly1460=) c.4376G= (p.Gly1459=) c.4256G= (p.Gly1419=) c.4352G= (p.Gly1451=) c.4298G= (p.Gly1433=) c.4259G= (p.Gly1420=) c.4208G= (p.Gly1403=) c.1340G= (p.Gly447=) | |
18 | g.33744224G>T | CA402190782 | ASXL3 | c.4379G>T (p.Gly1460Val) c.4376G>T (p.Gly1459Val) c.4256G>T (p.Gly1419Val) c.4352G>T (p.Gly1451Val) c.4298G>T (p.Gly1433Val) c.4259G>T (p.Gly1420Val) c.4208G>T (p.Gly1403Val) c.1340G>T (p.Gly447Val) | dbSNP gnomAD v4 |
18 | g.33744225del | CA2695227405 | ASXL3 | c.4380del (p.Phe1461LeufsTer6) c.4377del (p.Phe1460LeufsTer6) c.4257del (p.Phe1420LeufsTer6) c.4353del (p.Phe1452LeufsTer6) c.4299del (p.Phe1434LeufsTer6) c.4260del (p.Phe1421LeufsTer6) c.4209del (p.Phe1404LeufsTer6) c.1341del (p.Phe448LeufsTer6) | |
18 | g.33744225C>A | CA503770128 | ASXL3 | c.4380C>A (p.Gly1460=) c.4377C>A (p.Gly1459=) c.4257C>A (p.Gly1419=) c.4353C>A (p.Gly1451=) c.4299C>A (p.Gly1433=) c.4260C>A (p.Gly1420=) c.4209C>A (p.Gly1403=) c.1341C>A (p.Gly447=) | |
18 | g.33744225C= | CA2294858050 | ASXL3 | c.4380C= (p.Gly1460=) c.4377C= (p.Gly1459=) c.4257C= (p.Gly1419=) c.4353C= (p.Gly1451=) c.4299C= (p.Gly1433=) c.4260C= (p.Gly1420=) c.4209C= (p.Gly1403=) c.1341C= (p.Gly447=) | |
18 | g.33744225C>G | CA503770131 | ASXL3 | c.4380C>G (p.Gly1460=) c.4377C>G (p.Gly1459=) c.4257C>G (p.Gly1419=) c.4353C>G (p.Gly1451=) c.4299C>G (p.Gly1433=) c.4260C>G (p.Gly1420=) c.4209C>G (p.Gly1403=) c.1341C>G (p.Gly447=) | |
18 | g.33744225C>T | CA8934249 | ASXL3 | c.4380C>T (p.Gly1460=) c.4377C>T (p.Gly1459=) c.4257C>T (p.Gly1419=) c.4353C>T (p.Gly1451=) c.4299C>T (p.Gly1433=) c.4260C>T (p.Gly1420=) c.4209C>T (p.Gly1403=) c.1341C>T (p.Gly447=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744226T>A | CA402190783 | ASXL3 | c.4381T>A (p.Phe1461Ile) c.4378T>A (p.Phe1460Ile) c.4258T>A (p.Phe1420Ile) c.4354T>A (p.Phe1452Ile) c.4300T>A (p.Phe1434Ile) c.4261T>A (p.Phe1421Ile) c.4210T>A (p.Phe1404Ile) c.1342T>A (p.Phe448Ile) | |
18 | g.33744226T>C | CA402190784 | ASXL3 | c.4381T>C (p.Phe1461Leu) c.4378T>C (p.Phe1460Leu) c.4258T>C (p.Phe1420Leu) c.4354T>C (p.Phe1452Leu) c.4300T>C (p.Phe1434Leu) c.4261T>C (p.Phe1421Leu) c.4210T>C (p.Phe1404Leu) c.1342T>C (p.Phe448Leu) | |
18 | g.33744226T>G | CA402190785 | ASXL3 | c.4381T>G (p.Phe1461Val) c.4378T>G (p.Phe1460Val) c.4258T>G (p.Phe1420Val) c.4354T>G (p.Phe1452Val) c.4300T>G (p.Phe1434Val) c.4261T>G (p.Phe1421Val) c.4210T>G (p.Phe1404Val) c.1342T>G (p.Phe448Val) | |
18 | g.33744227T>A | CA402190786 | ASXL3 | c.4382T>A (p.Phe1461Tyr) c.4379T>A (p.Phe1460Tyr) c.4259T>A (p.Phe1420Tyr) c.4355T>A (p.Phe1452Tyr) c.4301T>A (p.Phe1434Tyr) c.4262T>A (p.Phe1421Tyr) c.4211T>A (p.Phe1404Tyr) c.1343T>A (p.Phe448Tyr) | |
18 | g.33744227T>C | CA402190787 | ASXL3 | c.4382T>C (p.Phe1461Ser) c.4379T>C (p.Phe1460Ser) c.4259T>C (p.Phe1420Ser) c.4355T>C (p.Phe1452Ser) c.4301T>C (p.Phe1434Ser) c.4262T>C (p.Phe1421Ser) c.4211T>C (p.Phe1404Ser) c.1343T>C (p.Phe448Ser) | |
18 | g.33744227T>G | CA402190788 | ASXL3 | c.4382T>G (p.Phe1461Cys) c.4379T>G (p.Phe1460Cys) c.4259T>G (p.Phe1420Cys) c.4355T>G (p.Phe1452Cys) c.4301T>G (p.Phe1434Cys) c.4262T>G (p.Phe1421Cys) c.4211T>G (p.Phe1404Cys) c.1343T>G (p.Phe448Cys) | |
18 | g.33744228T>A | CA402190789 | ASXL3 | c.4383T>A (p.Phe1461Leu) c.4380T>A (p.Phe1460Leu) c.4260T>A (p.Phe1420Leu) c.4356T>A (p.Phe1452Leu) c.4302T>A (p.Phe1434Leu) c.4263T>A (p.Phe1421Leu) c.4212T>A (p.Phe1404Leu) c.1344T>A (p.Phe448Leu) | |
18 | g.33744228T>C | CA503770149 | ASXL3 | c.4383T>C (p.Phe1461=) c.4380T>C (p.Phe1460=) c.4260T>C (p.Phe1420=) c.4356T>C (p.Phe1452=) c.4302T>C (p.Phe1434=) c.4263T>C (p.Phe1421=) c.4212T>C (p.Phe1404=) c.1344T>C (p.Phe448=) | |
18 | g.33744228T>G | CA402190790 | ASXL3 | c.4383T>G (p.Phe1461Leu) c.4380T>G (p.Phe1460Leu) c.4260T>G (p.Phe1420Leu) c.4356T>G (p.Phe1452Leu) c.4302T>G (p.Phe1434Leu) c.4263T>G (p.Phe1421Leu) c.4212T>G (p.Phe1404Leu) c.1344T>G (p.Phe448Leu) | |
18 | g.33744229G>A | CA402190792 | ASXL3 | c.4384G>A (p.Ala1462Thr) c.4381G>A (p.Ala1461Thr) c.4261G>A (p.Ala1421Thr) c.4357G>A (p.Ala1453Thr) c.4303G>A (p.Ala1435Thr) c.4264G>A (p.Ala1422Thr) c.4213G>A (p.Ala1405Thr) c.1345G>A (p.Ala449Thr) | |
18 | g.33744229G>C | CA402190793 | ASXL3 | c.4384G>C (p.Ala1462Pro) c.4381G>C (p.Ala1461Pro) c.4261G>C (p.Ala1421Pro) c.4357G>C (p.Ala1453Pro) c.4303G>C (p.Ala1435Pro) c.4264G>C (p.Ala1422Pro) c.4213G>C (p.Ala1405Pro) c.1345G>C (p.Ala449Pro) | |
18 | g.33744229G>T | CA402190791 | ASXL3 | c.4384G>T (p.Ala1462Ser) c.4381G>T (p.Ala1461Ser) c.4261G>T (p.Ala1421Ser) c.4357G>T (p.Ala1453Ser) c.4303G>T (p.Ala1435Ser) c.4264G>T (p.Ala1422Ser) c.4213G>T (p.Ala1405Ser) c.1345G>T (p.Ala449Ser) | |
18 | g.33744230del | CA2695227406 | ASXL3 | c.4385del (p.Ala1462AspfsTer5) c.4382del (p.Ala1461AspfsTer5) c.4262del (p.Ala1421AspfsTer5) c.4358del (p.Ala1453AspfsTer5) c.4304del (p.Ala1435AspfsTer5) c.4265del (p.Ala1422AspfsTer5) c.4214del (p.Ala1405AspfsTer5) c.1346del (p.Ala449AspfsTer5) | |
18 | g.33744230C>A | CA402190794 | ASXL3 | c.4385C>A (p.Ala1462Glu) c.4382C>A (p.Ala1461Glu) c.4262C>A (p.Ala1421Glu) c.4358C>A (p.Ala1453Glu) c.4304C>A (p.Ala1435Glu) c.4265C>A (p.Ala1422Glu) c.4214C>A (p.Ala1405Glu) c.1346C>A (p.Ala449Glu) | dbSNP gnomAD v2 |
18 | g.33744230C= | CA2294858051 | ASXL3 | c.4385C= (p.Ala1462=) c.4382C= (p.Ala1461=) c.4262C= (p.Ala1421=) c.4358C= (p.Ala1453=) c.4304C= (p.Ala1435=) c.4265C= (p.Ala1422=) c.4214C= (p.Ala1405=) c.1346C= (p.Ala449=) | |
18 | g.33744230C>G | CA402190795 | ASXL3 | c.4385C>G (p.Ala1462Gly) c.4382C>G (p.Ala1461Gly) c.4262C>G (p.Ala1421Gly) c.4358C>G (p.Ala1453Gly) c.4304C>G (p.Ala1435Gly) c.4265C>G (p.Ala1422Gly) c.4214C>G (p.Ala1405Gly) c.1346C>G (p.Ala449Gly) | |
18 | g.33744230C>T | CA8934250 | ASXL3 | c.4385C>T (p.Ala1462Val) c.4382C>T (p.Ala1461Val) c.4262C>T (p.Ala1421Val) c.4358C>T (p.Ala1453Val) c.4304C>T (p.Ala1435Val) c.4265C>T (p.Ala1422Val) c.4214C>T (p.Ala1405Val) c.1346C>T (p.Ala449Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744231A= | CA2294858052 | ASXL3 | c.4386A= (p.Ala1462=) c.4383A= (p.Ala1461=) c.4263A= (p.Ala1421=) c.4359A= (p.Ala1453=) c.4305A= (p.Ala1435=) c.4266A= (p.Ala1422=) c.4215A= (p.Ala1405=) c.1347A= (p.Ala449=) | |
18 | g.33744231A>C | CA8934251 | ASXL3 | c.4386A>C (p.Ala1462=) c.4383A>C (p.Ala1461=) c.4263A>C (p.Ala1421=) c.4359A>C (p.Ala1453=) c.4305A>C (p.Ala1435=) c.4266A>C (p.Ala1422=) c.4215A>C (p.Ala1405=) c.1347A>C (p.Ala449=) | dbSNP ExAC gnomAD v4 |
18 | g.33744231A>G | CA503770165 | ASXL3 | c.4386A>G (p.Ala1462=) c.4383A>G (p.Ala1461=) c.4263A>G (p.Ala1421=) c.4359A>G (p.Ala1453=) c.4305A>G (p.Ala1435=) c.4266A>G (p.Ala1422=) c.4215A>G (p.Ala1405=) c.1347A>G (p.Ala449=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744231A>T | CA503770163 | ASXL3 | c.4386A>T (p.Ala1462=) c.4383A>T (p.Ala1461=) c.4263A>T (p.Ala1421=) c.4359A>T (p.Ala1453=) c.4305A>T (p.Ala1435=) c.4266A>T (p.Ala1422=) c.4215A>T (p.Ala1405=) c.1347A>T (p.Ala449=) | |
18 | g.33744232C>A | CA402190796 | ASXL3 | c.4387C>A (p.Pro1463Thr) c.4384C>A (p.Pro1462Thr) c.4264C>A (p.Pro1422Thr) c.4360C>A (p.Pro1454Thr) c.4306C>A (p.Pro1436Thr) c.4267C>A (p.Pro1423Thr) c.4216C>A (p.Pro1406Thr) c.1348C>A (p.Pro450Thr) | gnomAD v4 |
18 | g.33744232C= | CA2294858053 | ASXL3 | c.4387C= (p.Pro1463=) c.4384C= (p.Pro1462=) c.4264C= (p.Pro1422=) c.4360C= (p.Pro1454=) c.4306C= (p.Pro1436=) c.4267C= (p.Pro1423=) c.4216C= (p.Pro1406=) c.1348C= (p.Pro450=) | |
18 | g.33744232C>G | CA8934253 | ASXL3 | c.4387C>G (p.Pro1463Ala) c.4384C>G (p.Pro1462Ala) c.4264C>G (p.Pro1422Ala) c.4360C>G (p.Pro1454Ala) c.4306C>G (p.Pro1436Ala) c.4267C>G (p.Pro1423Ala) c.4216C>G (p.Pro1406Ala) c.1348C>G (p.Pro450Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744232C>T | CA8934252 | ASXL3 | c.4387C>T (p.Pro1463Ser) c.4384C>T (p.Pro1462Ser) c.4264C>T (p.Pro1422Ser) c.4360C>T (p.Pro1454Ser) c.4306C>T (p.Pro1436Ser) c.4267C>T (p.Pro1423Ser) c.4216C>T (p.Pro1406Ser) c.1348C>T (p.Pro450Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744233C>A | CA8934254 | ASXL3 | c.4388C>A (p.Pro1463Gln) c.4385C>A (p.Pro1462Gln) c.4265C>A (p.Pro1422Gln) c.4361C>A (p.Pro1454Gln) c.4307C>A (p.Pro1436Gln) c.4268C>A (p.Pro1423Gln) c.4217C>A (p.Pro1406Gln) c.1349C>A (p.Pro450Gln) | dbSNP ExAC gnomAD v2 |
18 | g.33744233C= | CA2294858054 | ASXL3 | c.4388C= (p.Pro1463=) c.4385C= (p.Pro1462=) c.4265C= (p.Pro1422=) c.4361C= (p.Pro1454=) c.4307C= (p.Pro1436=) c.4268C= (p.Pro1423=) c.4217C= (p.Pro1406=) c.1349C= (p.Pro450=) | |
18 | g.33744233C>G | CA402190797 | ASXL3 | c.4388C>G (p.Pro1463Arg) c.4385C>G (p.Pro1462Arg) c.4265C>G (p.Pro1422Arg) c.4361C>G (p.Pro1454Arg) c.4307C>G (p.Pro1436Arg) c.4268C>G (p.Pro1423Arg) c.4217C>G (p.Pro1406Arg) c.1349C>G (p.Pro450Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744233C>T | CA402190798 | ASXL3 | c.4388C>T (p.Pro1463Leu) c.4385C>T (p.Pro1462Leu) c.4265C>T (p.Pro1422Leu) c.4361C>T (p.Pro1454Leu) c.4307C>T (p.Pro1436Leu) c.4268C>T (p.Pro1423Leu) c.4217C>T (p.Pro1406Leu) c.1349C>T (p.Pro450Leu) | gnomAD v4 |
18 | g.33744234A= | CA2294858055 | ASXL3 | c.4389A= (p.Pro1463=) c.4386A= (p.Pro1462=) c.4266A= (p.Pro1422=) c.4362A= (p.Pro1454=) c.4308A= (p.Pro1436=) c.4269A= (p.Pro1423=) c.4218A= (p.Pro1406=) c.1350A= (p.Pro450=) | |
18 | g.33744234A>C | CA503770172 | ASXL3 | c.4389A>C (p.Pro1463=) c.4386A>C (p.Pro1462=) c.4266A>C (p.Pro1422=) c.4362A>C (p.Pro1454=) c.4308A>C (p.Pro1436=) c.4269A>C (p.Pro1423=) c.4218A>C (p.Pro1406=) c.1350A>C (p.Pro450=) | |
18 | g.33744234A>G | CA503770173 | ASXL3 | c.4389A>G (p.Pro1463=) c.4386A>G (p.Pro1462=) c.4266A>G (p.Pro1422=) c.4362A>G (p.Pro1454=) c.4308A>G (p.Pro1436=) c.4269A>G (p.Pro1423=) c.4218A>G (p.Pro1406=) c.1350A>G (p.Pro450=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744234A>T | CA503770174 | ASXL3 | c.4389A>T (p.Pro1463=) c.4386A>T (p.Pro1462=) c.4266A>T (p.Pro1422=) c.4362A>T (p.Pro1454=) c.4308A>T (p.Pro1436=) c.4269A>T (p.Pro1423=) c.4218A>T (p.Pro1406=) c.1350A>T (p.Pro450=) | |
18 | g.33744235G>A | CA402190799 | ASXL3 | c.4390G>A (p.Ala1464Thr) c.4387G>A (p.Ala1463Thr) c.4267G>A (p.Ala1423Thr) c.4363G>A (p.Ala1455Thr) c.4309G>A (p.Ala1437Thr) c.4270G>A (p.Ala1424Thr) c.4219G>A (p.Ala1407Thr) c.1351G>A (p.Ala451Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744235G>C | CA8934255 | ASXL3 | c.4390G>C (p.Ala1464Pro) c.4387G>C (p.Ala1463Pro) c.4267G>C (p.Ala1423Pro) c.4363G>C (p.Ala1455Pro) c.4309G>C (p.Ala1437Pro) c.4270G>C (p.Ala1424Pro) c.4219G>C (p.Ala1407Pro) c.1351G>C (p.Ala451Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744235G= | CA2294858056 | ASXL3 | c.4390G= (p.Ala1464=) c.4387G= (p.Ala1463=) c.4267G= (p.Ala1423=) c.4363G= (p.Ala1455=) c.4309G= (p.Ala1437=) c.4270G= (p.Ala1424=) c.4219G= (p.Ala1407=) c.1351G= (p.Ala451=) | |
18 | g.33744235G>T | CA402190800 | ASXL3 | c.4390G>T (p.Ala1464Ser) c.4387G>T (p.Ala1463Ser) c.4267G>T (p.Ala1423Ser) c.4363G>T (p.Ala1455Ser) c.4309G>T (p.Ala1437Ser) c.4270G>T (p.Ala1424Ser) c.4219G>T (p.Ala1407Ser) c.1351G>T (p.Ala451Ser) | |
18 | g.33744236C>A | CA402190803 | ASXL3 | c.4391C>A (p.Ala1464Glu) c.4388C>A (p.Ala1463Glu) c.4268C>A (p.Ala1423Glu) c.4364C>A (p.Ala1455Glu) c.4310C>A (p.Ala1437Glu) c.4271C>A (p.Ala1424Glu) c.4220C>A (p.Ala1407Glu) c.1352C>A (p.Ala451Glu) | |
18 | g.33744236C>G | CA402190802 | ASXL3 | c.4391C>G (p.Ala1464Gly) c.4388C>G (p.Ala1463Gly) c.4268C>G (p.Ala1423Gly) c.4364C>G (p.Ala1455Gly) c.4310C>G (p.Ala1437Gly) c.4271C>G (p.Ala1424Gly) c.4220C>G (p.Ala1407Gly) c.1352C>G (p.Ala451Gly) | |
18 | g.33744236C>T | CA402190801 | ASXL3 | c.4391C>T (p.Ala1464Val) c.4388C>T (p.Ala1463Val) c.4268C>T (p.Ala1423Val) c.4364C>T (p.Ala1455Val) c.4310C>T (p.Ala1437Val) c.4271C>T (p.Ala1424Val) c.4220C>T (p.Ala1407Val) c.1352C>T (p.Ala451Val) | |
18 | g.33744237A>C | CA503770182 | ASXL3 | c.4392A>C (p.Ala1464=) c.4389A>C (p.Ala1463=) c.4269A>C (p.Ala1423=) c.4365A>C (p.Ala1455=) c.4311A>C (p.Ala1437=) c.4272A>C (p.Ala1424=) c.4221A>C (p.Ala1407=) c.1353A>C (p.Ala451=) | |
18 | g.33744237A>G | CA503770184 | ASXL3 | c.4392A>G (p.Ala1464=) c.4389A>G (p.Ala1463=) c.4269A>G (p.Ala1423=) c.4365A>G (p.Ala1455=) c.4311A>G (p.Ala1437=) c.4272A>G (p.Ala1424=) c.4221A>G (p.Ala1407=) c.1353A>G (p.Ala451=) | |
18 | g.33744237A>T | CA503770187 | ASXL3 | c.4392A>T (p.Ala1464=) c.4389A>T (p.Ala1463=) c.4269A>T (p.Ala1423=) c.4365A>T (p.Ala1455=) c.4311A>T (p.Ala1437=) c.4272A>T (p.Ala1424=) c.4221A>T (p.Ala1407=) c.1353A>T (p.Ala451=) | |
18 | g.33744238G>A | CA402190804 | ASXL3 | c.4393G>A (p.Ala1465Thr) c.4390G>A (p.Ala1464Thr) c.4270G>A (p.Ala1424Thr) c.4366G>A (p.Ala1456Thr) c.4312G>A (p.Ala1438Thr) c.4273G>A (p.Ala1425Thr) c.4222G>A (p.Ala1408Thr) c.1354G>A (p.Ala452Thr) | |
18 | g.33744238G>C | CA402190805 | ASXL3 | c.4393G>C (p.Ala1465Pro) c.4390G>C (p.Ala1464Pro) c.4270G>C (p.Ala1424Pro) c.4366G>C (p.Ala1456Pro) c.4312G>C (p.Ala1438Pro) c.4273G>C (p.Ala1425Pro) c.4222G>C (p.Ala1408Pro) c.1354G>C (p.Ala452Pro) | |
18 | g.33744238G>T | CA402190806 | ASXL3 | c.4393G>T (p.Ala1465Ser) c.4390G>T (p.Ala1464Ser) c.4270G>T (p.Ala1424Ser) c.4366G>T (p.Ala1456Ser) c.4312G>T (p.Ala1438Ser) c.4273G>T (p.Ala1425Ser) c.4222G>T (p.Ala1408Ser) c.1354G>T (p.Ala452Ser) | |
18 | g.33744239C>A | CA402190807 | ASXL3 | c.4394C>A (p.Ala1465Asp) c.4391C>A (p.Ala1464Asp) c.4271C>A (p.Ala1424Asp) c.4367C>A (p.Ala1456Asp) c.4313C>A (p.Ala1438Asp) c.4274C>A (p.Ala1425Asp) c.4223C>A (p.Ala1408Asp) c.1355C>A (p.Ala452Asp) | |
18 | g.33744239C>G | CA402190808 | ASXL3 | c.4394C>G (p.Ala1465Gly) c.4391C>G (p.Ala1464Gly) c.4271C>G (p.Ala1424Gly) c.4367C>G (p.Ala1456Gly) c.4313C>G (p.Ala1438Gly) c.4274C>G (p.Ala1425Gly) c.4223C>G (p.Ala1408Gly) c.1355C>G (p.Ala452Gly) | |
18 | g.33744239C>T | CA402190809 | ASXL3 | c.4394C>T (p.Ala1465Val) c.4391C>T (p.Ala1464Val) c.4271C>T (p.Ala1424Val) c.4367C>T (p.Ala1456Val) c.4313C>T (p.Ala1438Val) c.4274C>T (p.Ala1425Val) c.4223C>T (p.Ala1408Val) c.1355C>T (p.Ala452Val) | gnomAD v4 |
18 | g.33744240C>A | CA503770201 | ASXL3 | c.4395C>A (p.Ala1465=) c.4392C>A (p.Ala1464=) c.4272C>A (p.Ala1424=) c.4368C>A (p.Ala1456=) c.4314C>A (p.Ala1438=) c.4275C>A (p.Ala1425=) c.4224C>A (p.Ala1408=) c.1356C>A (p.Ala452=) | |
18 | g.33744240C>G | CA503770202 | ASXL3 | c.4395C>G (p.Ala1465=) c.4392C>G (p.Ala1464=) c.4272C>G (p.Ala1424=) c.4368C>G (p.Ala1456=) c.4314C>G (p.Ala1438=) c.4275C>G (p.Ala1425=) c.4224C>G (p.Ala1408=) c.1356C>G (p.Ala452=) | |
18 | g.33744240C>T | CA503770204 | ASXL3 | c.4395C>T (p.Ala1465=) c.4392C>T (p.Ala1464=) c.4272C>T (p.Ala1424=) c.4368C>T (p.Ala1456=) c.4314C>T (p.Ala1438=) c.4275C>T (p.Ala1425=) c.4224C>T (p.Ala1408=) c.1356C>T (p.Ala452=) | |
18 | g.33744241A= | CA2294858057 | ASXL3 | c.4396A= (p.Ile1466=) c.4393A= (p.Ile1465=) c.4273A= (p.Ile1425=) c.4369A= (p.Ile1457=) c.4315A= (p.Ile1439=) c.4276A= (p.Ile1426=) c.4225A= (p.Ile1409=) c.1357A= (p.Ile453=) | |
18 | g.33744241A>C | CA402190810 | ASXL3 | c.4396A>C (p.Ile1466Leu) c.4393A>C (p.Ile1465Leu) c.4273A>C (p.Ile1425Leu) c.4369A>C (p.Ile1457Leu) c.4315A>C (p.Ile1439Leu) c.4276A>C (p.Ile1426Leu) c.4225A>C (p.Ile1409Leu) c.1357A>C (p.Ile453Leu) | |
18 | g.33744241A>G | CA402190811 | ASXL3 | c.4396A>G (p.Ile1466Val) c.4393A>G (p.Ile1465Val) c.4273A>G (p.Ile1425Val) c.4369A>G (p.Ile1457Val) c.4315A>G (p.Ile1439Val) c.4276A>G (p.Ile1426Val) c.4225A>G (p.Ile1409Val) c.1357A>G (p.Ile453Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744241A>T | CA402190812 | ASXL3 | c.4396A>T (p.Ile1466Leu) c.4393A>T (p.Ile1465Leu) c.4273A>T (p.Ile1425Leu) c.4369A>T (p.Ile1457Leu) c.4315A>T (p.Ile1439Leu) c.4276A>T (p.Ile1426Leu) c.4225A>T (p.Ile1409Leu) c.1357A>T (p.Ile453Leu) | |
18 | g.33744242T>A | CA402190813 | ASXL3 | c.4397T>A (p.Ile1466Lys) c.4394T>A (p.Ile1465Lys) c.4274T>A (p.Ile1425Lys) c.4370T>A (p.Ile1457Lys) c.4316T>A (p.Ile1439Lys) c.4277T>A (p.Ile1426Lys) c.4226T>A (p.Ile1409Lys) c.1358T>A (p.Ile453Lys) | |
18 | g.33744242T>C | CA402190814 | ASXL3 | c.4397T>C (p.Ile1466Thr) c.4394T>C (p.Ile1465Thr) c.4274T>C (p.Ile1425Thr) c.4370T>C (p.Ile1457Thr) c.4316T>C (p.Ile1439Thr) c.4277T>C (p.Ile1426Thr) c.4226T>C (p.Ile1409Thr) c.1358T>C (p.Ile453Thr) | |
18 | g.33744242T>G | CA402190815 | ASXL3 | c.4397T>G (p.Ile1466Arg) c.4394T>G (p.Ile1465Arg) c.4274T>G (p.Ile1425Arg) c.4370T>G (p.Ile1457Arg) c.4316T>G (p.Ile1439Arg) c.4277T>G (p.Ile1426Arg) c.4226T>G (p.Ile1409Arg) c.1358T>G (p.Ile453Arg) | |
18 | g.33744243A= | CA2294858058 | ASXL3 | c.4398A= (p.Ile1466=) c.4395A= (p.Ile1465=) c.4275A= (p.Ile1425=) c.4371A= (p.Ile1457=) c.4317A= (p.Ile1439=) c.4278A= (p.Ile1426=) c.4227A= (p.Ile1409=) c.1359A= (p.Ile453=) | |
18 | g.33744243A>C | CA503770212 | ASXL3 | c.4398A>C (p.Ile1466=) c.4395A>C (p.Ile1465=) c.4275A>C (p.Ile1425=) c.4371A>C (p.Ile1457=) c.4317A>C (p.Ile1439=) c.4278A>C (p.Ile1426=) c.4227A>C (p.Ile1409=) c.1359A>C (p.Ile453=) | |
18 | g.33744243A>G | CA402190816 | ASXL3 | c.4398A>G (p.Ile1466Met) c.4395A>G (p.Ile1465Met) c.4275A>G (p.Ile1425Met) c.4371A>G (p.Ile1457Met) c.4317A>G (p.Ile1439Met) c.4278A>G (p.Ile1426Met) c.4227A>G (p.Ile1409Met) c.1359A>G (p.Ile453Met) | dbSNP gnomAD v4 |
18 | g.33744243A>T | CA503770213 | ASXL3 | c.4398A>T (p.Ile1466=) c.4395A>T (p.Ile1465=) c.4275A>T (p.Ile1425=) c.4371A>T (p.Ile1457=) c.4317A>T (p.Ile1439=) c.4278A>T (p.Ile1426=) c.4227A>T (p.Ile1409=) c.1359A>T (p.Ile453=) | |
18 | g.33744244A>C | CA402190819 | ASXL3 | c.4399A>C (p.Asn1467His) c.4396A>C (p.Asn1466His) c.4276A>C (p.Asn1426His) c.4372A>C (p.Asn1458His) c.4318A>C (p.Asn1440His) c.4279A>C (p.Asn1427His) c.4228A>C (p.Asn1410His) c.1360A>C (p.Asn454His) | |
18 | g.33744244A>G | CA402190818 | ASXL3 | c.4399A>G (p.Asn1467Asp) c.4396A>G (p.Asn1466Asp) c.4276A>G (p.Asn1426Asp) c.4372A>G (p.Asn1458Asp) c.4318A>G (p.Asn1440Asp) c.4279A>G (p.Asn1427Asp) c.4228A>G (p.Asn1410Asp) c.1360A>G (p.Asn454Asp) | |
18 | g.33744244A>T | CA402190817 | ASXL3 | c.4399A>T (p.Asn1467Tyr) c.4396A>T (p.Asn1466Tyr) c.4276A>T (p.Asn1426Tyr) c.4372A>T (p.Asn1458Tyr) c.4318A>T (p.Asn1440Tyr) c.4279A>T (p.Asn1427Tyr) c.4228A>T (p.Asn1410Tyr) c.1360A>T (p.Asn454Tyr) | |
18 | g.33744245A>C | CA402190820 | ASXL3 | c.4400A>C (p.Asn1467Thr) c.4397A>C (p.Asn1466Thr) c.4277A>C (p.Asn1426Thr) c.4373A>C (p.Asn1458Thr) c.4319A>C (p.Asn1440Thr) c.4280A>C (p.Asn1427Thr) c.4229A>C (p.Asn1410Thr) c.1361A>C (p.Asn454Thr) | |
18 | g.33744245A>G | CA402190822 | ASXL3 | c.4400A>G (p.Asn1467Ser) c.4397A>G (p.Asn1466Ser) c.4277A>G (p.Asn1426Ser) c.4373A>G (p.Asn1458Ser) c.4319A>G (p.Asn1440Ser) c.4280A>G (p.Asn1427Ser) c.4229A>G (p.Asn1410Ser) c.1361A>G (p.Asn454Ser) | |
18 | g.33744245A>T | CA402190821 | ASXL3 | c.4400A>T (p.Asn1467Ile) c.4397A>T (p.Asn1466Ile) c.4277A>T (p.Asn1426Ile) c.4373A>T (p.Asn1458Ile) c.4319A>T (p.Asn1440Ile) c.4280A>T (p.Asn1427Ile) c.4229A>T (p.Asn1410Ile) c.1361A>T (p.Asn454Ile) | |
18 | g.33744246C>A | CA402190823 | ASXL3 | c.4401C>A (p.Asn1467Lys) c.4398C>A (p.Asn1466Lys) c.4278C>A (p.Asn1426Lys) c.4374C>A (p.Asn1458Lys) c.4320C>A (p.Asn1440Lys) c.4281C>A (p.Asn1427Lys) c.4230C>A (p.Asn1410Lys) c.1362C>A (p.Asn454Lys) | |
18 | g.33744246C>G | CA402190824 | ASXL3 | c.4401C>G (p.Asn1467Lys) c.4398C>G (p.Asn1466Lys) c.4278C>G (p.Asn1426Lys) c.4374C>G (p.Asn1458Lys) c.4320C>G (p.Asn1440Lys) c.4281C>G (p.Asn1427Lys) c.4230C>G (p.Asn1410Lys) c.1362C>G (p.Asn454Lys) | |
18 | g.33744246C>T | CA503770231 | ASXL3 | c.4401C>T (p.Asn1467=) c.4398C>T (p.Asn1466=) c.4278C>T (p.Asn1426=) c.4374C>T (p.Asn1458=) c.4320C>T (p.Asn1440=) c.4281C>T (p.Asn1427=) c.4230C>T (p.Asn1410=) c.1362C>T (p.Asn454=) | |
18 | g.33744247C>A | CA503770234 | ASXL3 | c.4402C>A (p.Arg1468=) c.4399C>A (p.Arg1467=) c.4279C>A (p.Arg1427=) c.4375C>A (p.Arg1459=) c.4321C>A (p.Arg1441=) c.4282C>A (p.Arg1428=) c.4231C>A (p.Arg1411=) c.1363C>A (p.Arg455=) | dbSNP |
18 | g.33744247C= | CA2294858059 | ASXL3 | c.4402C= (p.Arg1468=) c.4399C= (p.Arg1467=) c.4279C= (p.Arg1427=) c.4375C= (p.Arg1459=) c.4321C= (p.Arg1441=) c.4282C= (p.Arg1428=) c.4231C= (p.Arg1411=) c.1363C= (p.Arg455=) | |
18 | g.33744247C>G | CA402190825 | ASXL3 | c.4402C>G (p.Arg1468Gly) c.4399C>G (p.Arg1467Gly) c.4279C>G (p.Arg1427Gly) c.4375C>G (p.Arg1459Gly) c.4321C>G (p.Arg1441Gly) c.4282C>G (p.Arg1428Gly) c.4231C>G (p.Arg1411Gly) c.1363C>G (p.Arg455Gly) | dbSNP |
18 | g.33744247C>T | CA402190826 | ASXL3 | c.4402C>T (p.Arg1468Ter) c.4399C>T (p.Arg1467Ter) c.4279C>T (p.Arg1427Ter) c.4375C>T (p.Arg1459Ter) c.4321C>T (p.Arg1441Ter) c.4282C>T (p.Arg1428Ter) c.4231C>T (p.Arg1411Ter) c.1363C>T (p.Arg455Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.33744248_33744251dup | CA2695227407 | ASXL3 | c.4403_4406dup (p.Pro1471AsnfsTer4) c.4400_4403dup (p.Pro1470AsnfsTer4) c.4280_4283dup (p.Pro1430AsnfsTer4) c.4376_4379dup (p.Pro1462AsnfsTer4) c.4322_4325dup (p.Pro1444AsnfsTer4) c.4283_4286dup (p.Pro1431AsnfsTer4) c.4232_4235dup (p.Pro1414AsnfsTer4) c.1364_1367dup (p.Pro458AsnfsTer4) | |
18 | g.33744248G>A | CA8934256 | ASXL3 | c.4403G>A (p.Arg1468Gln) c.4400G>A (p.Arg1467Gln) c.4280G>A (p.Arg1427Gln) c.4376G>A (p.Arg1459Gln) c.4322G>A (p.Arg1441Gln) c.4283G>A (p.Arg1428Gln) c.4232G>A (p.Arg1411Gln) c.1364G>A (p.Arg455Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.33744248G>C | CA8934257 | ASXL3 | c.4403G>C (p.Arg1468Pro) c.4400G>C (p.Arg1467Pro) c.4280G>C (p.Arg1427Pro) c.4376G>C (p.Arg1459Pro) c.4322G>C (p.Arg1441Pro) c.4283G>C (p.Arg1428Pro) c.4232G>C (p.Arg1411Pro) c.1364G>C (p.Arg455Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744248G= | CA2294858060 | ASXL3 | c.4403G= (p.Arg1468=) c.4400G= (p.Arg1467=) c.4280G= (p.Arg1427=) c.4376G= (p.Arg1459=) c.4322G= (p.Arg1441=) c.4283G= (p.Arg1428=) c.4232G= (p.Arg1411=) c.1364G= (p.Arg455=) | |
18 | g.33744248G>T | CA402190827 | ASXL3 | c.4403G>T (p.Arg1468Leu) c.4400G>T (p.Arg1467Leu) c.4280G>T (p.Arg1427Leu) c.4376G>T (p.Arg1459Leu) c.4322G>T (p.Arg1441Leu) c.4283G>T (p.Arg1428Leu) c.4232G>T (p.Arg1411Leu) c.1364G>T (p.Arg455Leu) | |
18 | g.33744249A>C | CA503770237 | ASXL3 | c.4404A>C (p.Arg1468=) c.4401A>C (p.Arg1467=) c.4281A>C (p.Arg1427=) c.4377A>C (p.Arg1459=) c.4323A>C (p.Arg1441=) c.4284A>C (p.Arg1428=) c.4233A>C (p.Arg1411=) c.1365A>C (p.Arg455=) | |
18 | g.33744249A>G | CA503770239 | ASXL3 | c.4404A>G (p.Arg1468=) c.4401A>G (p.Arg1467=) c.4281A>G (p.Arg1427=) c.4377A>G (p.Arg1459=) c.4323A>G (p.Arg1441=) c.4284A>G (p.Arg1428=) c.4233A>G (p.Arg1411=) c.1365A>G (p.Arg455=) | gnomAD v4 |
18 | g.33744249A>T | CA503770240 | ASXL3 | c.4404A>T (p.Arg1468=) c.4401A>T (p.Arg1467=) c.4281A>T (p.Arg1427=) c.4377A>T (p.Arg1459=) c.4323A>T (p.Arg1441=) c.4284A>T (p.Arg1428=) c.4233A>T (p.Arg1411=) c.1365A>T (p.Arg455=) | |
18 | g.33744250T>A | CA402190828 | ASXL3 | c.4405T>A (p.Ser1469Thr) c.4402T>A (p.Ser1468Thr) c.4282T>A (p.Ser1428Thr) c.4378T>A (p.Ser1460Thr) c.4324T>A (p.Ser1442Thr) c.4285T>A (p.Ser1429Thr) c.4234T>A (p.Ser1412Thr) c.1366T>A (p.Ser456Thr) | |
18 | g.33744250T>C | CA402190829 | ASXL3 | c.4405T>C (p.Ser1469Pro) c.4402T>C (p.Ser1468Pro) c.4282T>C (p.Ser1428Pro) c.4378T>C (p.Ser1460Pro) c.4324T>C (p.Ser1442Pro) c.4285T>C (p.Ser1429Pro) c.4234T>C (p.Ser1412Pro) c.1366T>C (p.Ser456Pro) | |
18 | g.33744250T>G | CA402190830 | ASXL3 | c.4405T>G (p.Ser1469Ala) c.4402T>G (p.Ser1468Ala) c.4282T>G (p.Ser1428Ala) c.4378T>G (p.Ser1460Ala) c.4324T>G (p.Ser1442Ala) c.4285T>G (p.Ser1429Ala) c.4234T>G (p.Ser1412Ala) c.1366T>G (p.Ser456Ala) | |
18 | g.33744251C>A | CA402190831 | ASXL3 | c.4406C>A (p.Ser1469Ter) c.4403C>A (p.Ser1468Ter) c.4283C>A (p.Ser1428Ter) c.4379C>A (p.Ser1460Ter) c.4325C>A (p.Ser1442Ter) c.4286C>A (p.Ser1429Ter) c.4235C>A (p.Ser1412Ter) c.1367C>A (p.Ser456Ter) | |
18 | g.33744251C>G | CA402190832 | ASXL3 | c.4406C>G (p.Ser1469Ter) c.4403C>G (p.Ser1468Ter) c.4283C>G (p.Ser1428Ter) c.4379C>G (p.Ser1460Ter) c.4325C>G (p.Ser1442Ter) c.4286C>G (p.Ser1429Ter) c.4235C>G (p.Ser1412Ter) c.1367C>G (p.Ser456Ter) | ClinVar dbSNP |
18 | g.33744251C>T | CA402190833 | ASXL3 | c.4406C>T (p.Ser1469Leu) c.4403C>T (p.Ser1468Leu) c.4283C>T (p.Ser1428Leu) c.4379C>T (p.Ser1460Leu) c.4325C>T (p.Ser1442Leu) c.4286C>T (p.Ser1429Leu) c.4235C>T (p.Ser1412Leu) c.1367C>T (p.Ser456Leu) | |
18 | g.33744252A>C | CA503770241 | ASXL3 | c.4407A>C (p.Ser1469=) c.4404A>C (p.Ser1468=) c.4284A>C (p.Ser1428=) c.4380A>C (p.Ser1460=) c.4326A>C (p.Ser1442=) c.4287A>C (p.Ser1429=) c.4236A>C (p.Ser1412=) c.1368A>C (p.Ser456=) | |
18 | g.33744252A>G | CA503770244 | ASXL3 | c.4407A>G (p.Ser1469=) c.4404A>G (p.Ser1468=) c.4284A>G (p.Ser1428=) c.4380A>G (p.Ser1460=) c.4326A>G (p.Ser1442=) c.4287A>G (p.Ser1429=) c.4236A>G (p.Ser1412=) c.1368A>G (p.Ser456=) | |
18 | g.33744252A>T | CA503770250 | ASXL3 | c.4407A>T (p.Ser1469=) c.4404A>T (p.Ser1468=) c.4284A>T (p.Ser1428=) c.4380A>T (p.Ser1460=) c.4326A>T (p.Ser1442=) c.4287A>T (p.Ser1429=) c.4236A>T (p.Ser1412=) c.1368A>T (p.Ser456=) | |
18 | g.33744253A= | CA2294858061 | ASXL3 | c.4408A= (p.Ile1470=) c.4405A= (p.Ile1469=) c.4285A= (p.Ile1429=) c.4381A= (p.Ile1461=) c.4327A= (p.Ile1443=) c.4288A= (p.Ile1430=) c.4237A= (p.Ile1413=) c.1369A= (p.Ile457=) | |
18 | g.33744253A>C | CA402190834 | ASXL3 | c.4408A>C (p.Ile1470Leu) c.4405A>C (p.Ile1469Leu) c.4285A>C (p.Ile1429Leu) c.4381A>C (p.Ile1461Leu) c.4327A>C (p.Ile1443Leu) c.4288A>C (p.Ile1430Leu) c.4237A>C (p.Ile1413Leu) c.1369A>C (p.Ile457Leu) | |
18 | g.33744253A>G | CA402190835 | ASXL3 | c.4408A>G (p.Ile1470Val) c.4405A>G (p.Ile1469Val) c.4285A>G (p.Ile1429Val) c.4381A>G (p.Ile1461Val) c.4327A>G (p.Ile1443Val) c.4288A>G (p.Ile1430Val) c.4237A>G (p.Ile1413Val) c.1369A>G (p.Ile457Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.33744253A>T | CA402190836 | ASXL3 | c.4408A>T (p.Ile1470Phe) c.4405A>T (p.Ile1469Phe) c.4285A>T (p.Ile1429Phe) c.4381A>T (p.Ile1461Phe) c.4327A>T (p.Ile1443Phe) c.4288A>T (p.Ile1430Phe) c.4237A>T (p.Ile1413Phe) c.1369A>T (p.Ile457Phe) | |
18 | g.33744254T>A | CA402190837 | ASXL3 | c.4409T>A (p.Ile1470Asn) c.4406T>A (p.Ile1469Asn) c.4286T>A (p.Ile1429Asn) c.4382T>A (p.Ile1461Asn) c.4328T>A (p.Ile1443Asn) c.4289T>A (p.Ile1430Asn) c.4238T>A (p.Ile1413Asn) c.1370T>A (p.Ile457Asn) | |
18 | g.33744254T>C | CA402190838 | ASXL3 | c.4409T>C (p.Ile1470Thr) c.4406T>C (p.Ile1469Thr) c.4286T>C (p.Ile1429Thr) c.4382T>C (p.Ile1461Thr) c.4328T>C (p.Ile1443Thr) c.4289T>C (p.Ile1430Thr) c.4238T>C (p.Ile1413Thr) c.1370T>C (p.Ile457Thr) | |
18 | g.33744254T>G | CA402190839 | ASXL3 | c.4409T>G (p.Ile1470Ser) c.4406T>G (p.Ile1469Ser) c.4286T>G (p.Ile1429Ser) c.4382T>G (p.Ile1461Ser) c.4328T>G (p.Ile1443Ser) c.4289T>G (p.Ile1430Ser) c.4238T>G (p.Ile1413Ser) c.1370T>G (p.Ile457Ser) | |
18 | g.33744255T>A | CA503770258 | ASXL3 | c.4410T>A (p.Ile1470=) c.4407T>A (p.Ile1469=) c.4287T>A (p.Ile1429=) c.4383T>A (p.Ile1461=) c.4329T>A (p.Ile1443=) c.4290T>A (p.Ile1430=) c.4239T>A (p.Ile1413=) c.1371T>A (p.Ile457=) | |
18 | g.33744255T>C | CA503770259 | ASXL3 | c.4410T>C (p.Ile1470=) c.4407T>C (p.Ile1469=) c.4287T>C (p.Ile1429=) c.4383T>C (p.Ile1461=) c.4329T>C (p.Ile1443=) c.4290T>C (p.Ile1430=) c.4239T>C (p.Ile1413=) c.1371T>C (p.Ile457=) | |
18 | g.33744255T>G | CA402190840 | ASXL3 | c.4410T>G (p.Ile1470Met) c.4407T>G (p.Ile1469Met) c.4287T>G (p.Ile1429Met) c.4383T>G (p.Ile1461Met) c.4329T>G (p.Ile1443Met) c.4290T>G (p.Ile1430Met) c.4239T>G (p.Ile1413Met) c.1371T>G (p.Ile457Met) | |
18 | g.33744256C>A | CA402190841 | ASXL3 | c.4411C>A (p.Pro1471Thr) c.4408C>A (p.Pro1470Thr) c.4288C>A (p.Pro1430Thr) c.4384C>A (p.Pro1462Thr) c.4330C>A (p.Pro1444Thr) c.4291C>A (p.Pro1431Thr) c.4240C>A (p.Pro1414Thr) c.1372C>A (p.Pro458Thr) | |
18 | g.33744256C>G | CA402190842 | ASXL3 | c.4411C>G (p.Pro1471Ala) c.4408C>G (p.Pro1470Ala) c.4288C>G (p.Pro1430Ala) c.4384C>G (p.Pro1462Ala) c.4330C>G (p.Pro1444Ala) c.4291C>G (p.Pro1431Ala) c.4240C>G (p.Pro1414Ala) c.1372C>G (p.Pro458Ala) | |
18 | g.33744256C>T | CA402190843 | ASXL3 | c.4411C>T (p.Pro1471Ser) c.4408C>T (p.Pro1470Ser) c.4288C>T (p.Pro1430Ser) c.4384C>T (p.Pro1462Ser) c.4330C>T (p.Pro1444Ser) c.4291C>T (p.Pro1431Ser) c.4240C>T (p.Pro1414Ser) c.1372C>T (p.Pro458Ser) | gnomAD v4 COSMIC |
18 | g.33744257del | CA2580095669 | ASXL3 | c.4412del (p.Pro1471ArgfsTer12) c.4409del (p.Pro1470ArgfsTer12) c.4289del (p.Pro1430ArgfsTer12) c.4385del (p.Pro1462ArgfsTer12) c.4331del (p.Pro1444ArgfsTer12) c.4292del (p.Pro1431ArgfsTer12) c.4241del (p.Pro1414ArgfsTer12) c.1373del (p.Pro458ArgfsTer12) | ClinVar |
18 | g.33744257C>A | CA402190844 | ASXL3 | c.4412C>A (p.Pro1471Gln) c.4409C>A (p.Pro1470Gln) c.4289C>A (p.Pro1430Gln) c.4385C>A (p.Pro1462Gln) c.4331C>A (p.Pro1444Gln) c.4292C>A (p.Pro1431Gln) c.4241C>A (p.Pro1414Gln) c.1373C>A (p.Pro458Gln) | gnomAD v4 COSMIC |
18 | g.33744257C= | CA2294858062 | ASXL3 | c.4412C= (p.Pro1471=) c.4409C= (p.Pro1470=) c.4289C= (p.Pro1430=) c.4385C= (p.Pro1462=) c.4331C= (p.Pro1444=) c.4292C= (p.Pro1431=) c.4241C= (p.Pro1414=) c.1373C= (p.Pro458=) | |
18 | g.33744257C>G | CA402190845 | ASXL3 | c.4412C>G (p.Pro1471Arg) c.4409C>G (p.Pro1470Arg) c.4289C>G (p.Pro1430Arg) c.4385C>G (p.Pro1462Arg) c.4331C>G (p.Pro1444Arg) c.4292C>G (p.Pro1431Arg) c.4241C>G (p.Pro1414Arg) c.1373C>G (p.Pro458Arg) | gnomAD v4 |
18 | g.33744257C>T | CA402190846 | ASXL3 | c.4412C>T (p.Pro1471Leu) c.4409C>T (p.Pro1470Leu) c.4289C>T (p.Pro1430Leu) c.4385C>T (p.Pro1462Leu) c.4331C>T (p.Pro1444Leu) c.4292C>T (p.Pro1431Leu) c.4241C>T (p.Pro1414Leu) c.1373C>T (p.Pro458Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.33744258G>A | CA503770269 | ASXL3 | c.4413G>A (p.Pro1471=) c.4410G>A (p.Pro1470=) c.4290G>A (p.Pro1430=) c.4386G>A (p.Pro1462=) c.4332G>A (p.Pro1444=) c.4293G>A (p.Pro1431=) c.4242G>A (p.Pro1414=) c.1374G>A (p.Pro458=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744258G>C | CA503770266 | ASXL3 | c.4413G>C (p.Pro1471=) c.4410G>C (p.Pro1470=) c.4290G>C (p.Pro1430=) c.4386G>C (p.Pro1462=) c.4332G>C (p.Pro1444=) c.4293G>C (p.Pro1431=) c.4242G>C (p.Pro1414=) c.1374G>C (p.Pro458=) | gnomAD v4 |
18 | g.33744258G= | CA2294858063 | ASXL3 | c.4413G= (p.Pro1471=) c.4410G= (p.Pro1470=) c.4290G= (p.Pro1430=) c.4386G= (p.Pro1462=) c.4332G= (p.Pro1444=) c.4293G= (p.Pro1431=) c.4242G= (p.Pro1414=) c.1374G= (p.Pro458=) | |
18 | g.33744258G>T | CA503770267 | ASXL3 | c.4413G>T (p.Pro1471=) c.4410G>T (p.Pro1470=) c.4290G>T (p.Pro1430=) c.4386G>T (p.Pro1462=) c.4332G>T (p.Pro1444=) c.4293G>T (p.Pro1431=) c.4242G>T (p.Pro1414=) c.1374G>T (p.Pro458=) | |
18 | g.33744259T>A | CA402190847 | ASXL3 | c.4414T>A (p.Cys1472Ser) c.4411T>A (p.Cys1471Ser) c.4291T>A (p.Cys1431Ser) c.4387T>A (p.Cys1463Ser) c.4333T>A (p.Cys1445Ser) c.4294T>A (p.Cys1432Ser) c.4243T>A (p.Cys1415Ser) c.1375T>A (p.Cys459Ser) | |
18 | g.33744259T>C | CA402190848 | ASXL3 | c.4414T>C (p.Cys1472Arg) c.4411T>C (p.Cys1471Arg) c.4291T>C (p.Cys1431Arg) c.4387T>C (p.Cys1463Arg) c.4333T>C (p.Cys1445Arg) c.4294T>C (p.Cys1432Arg) c.4243T>C (p.Cys1415Arg) c.1375T>C (p.Cys459Arg) | |
18 | g.33744259T>G | CA402190849 | ASXL3 | c.4414T>G (p.Cys1472Gly) c.4411T>G (p.Cys1471Gly) c.4291T>G (p.Cys1431Gly) c.4387T>G (p.Cys1463Gly) c.4333T>G (p.Cys1445Gly) c.4294T>G (p.Cys1432Gly) c.4243T>G (p.Cys1415Gly) c.1375T>G (p.Cys459Gly) | |
18 | g.33744260G>A | CA402190850 | ASXL3 | c.4415G>A (p.Cys1472Tyr) c.4412G>A (p.Cys1471Tyr) c.4292G>A (p.Cys1431Tyr) c.4388G>A (p.Cys1463Tyr) c.4334G>A (p.Cys1445Tyr) c.4295G>A (p.Cys1432Tyr) c.4244G>A (p.Cys1415Tyr) c.1376G>A (p.Cys459Tyr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744260G>C | CA402190851 | ASXL3 | c.4415G>C (p.Cys1472Ser) c.4412G>C (p.Cys1471Ser) c.4292G>C (p.Cys1431Ser) c.4388G>C (p.Cys1463Ser) c.4334G>C (p.Cys1445Ser) c.4295G>C (p.Cys1432Ser) c.4244G>C (p.Cys1415Ser) c.1376G>C (p.Cys459Ser) | gnomAD v4 |
18 | g.33744260G= | CA2294858064 | ASXL3 | c.4415G= (p.Cys1472=) c.4412G= (p.Cys1471=) c.4292G= (p.Cys1431=) c.4388G= (p.Cys1463=) c.4334G= (p.Cys1445=) c.4295G= (p.Cys1432=) c.4244G= (p.Cys1415=) c.1376G= (p.Cys459=) | |
18 | g.33744260G>T | CA402190852 | ASXL3 | c.4415G>T (p.Cys1472Phe) c.4412G>T (p.Cys1471Phe) c.4292G>T (p.Cys1431Phe) c.4388G>T (p.Cys1463Phe) c.4334G>T (p.Cys1445Phe) c.4295G>T (p.Cys1432Phe) c.4244G>T (p.Cys1415Phe) c.1376G>T (p.Cys459Phe) | |
18 | g.33744261T>A | CA402190853 | ASXL3 | c.4416T>A (p.Cys1472Ter) c.4413T>A (p.Cys1471Ter) c.4293T>A (p.Cys1431Ter) c.4389T>A (p.Cys1463Ter) c.4335T>A (p.Cys1445Ter) c.4296T>A (p.Cys1432Ter) c.4245T>A (p.Cys1415Ter) c.1377T>A (p.Cys459Ter) | |
18 | g.33744261T>C | CA503770276 | ASXL3 | c.4416T>C (p.Cys1472=) c.4413T>C (p.Cys1471=) c.4293T>C (p.Cys1431=) c.4389T>C (p.Cys1463=) c.4335T>C (p.Cys1445=) c.4296T>C (p.Cys1432=) c.4245T>C (p.Cys1415=) c.1377T>C (p.Cys459=) | |
18 | g.33744261T>G | CA402190854 | ASXL3 | c.4416T>G (p.Cys1472Trp) c.4413T>G (p.Cys1471Trp) c.4293T>G (p.Cys1431Trp) c.4389T>G (p.Cys1463Trp) c.4335T>G (p.Cys1445Trp) c.4296T>G (p.Cys1432Trp) c.4245T>G (p.Cys1415Trp) c.1377T>G (p.Cys459Trp) | |
18 | g.33744262A= | CA2294858065 | ASXL3 | c.4417A= (p.Lys1473=) c.4414A= (p.Lys1472=) c.4294A= (p.Lys1432=) c.4390A= (p.Lys1464=) c.4336A= (p.Lys1446=) c.4297A= (p.Lys1433=) c.4246A= (p.Lys1416=) c.1378A= (p.Lys460=) | |
18 | g.33744262A>C | CA402190857 | ASXL3 | c.4417A>C (p.Lys1473Gln) c.4414A>C (p.Lys1472Gln) c.4294A>C (p.Lys1432Gln) c.4390A>C (p.Lys1464Gln) c.4336A>C (p.Lys1446Gln) c.4297A>C (p.Lys1433Gln) c.4246A>C (p.Lys1416Gln) c.1378A>C (p.Lys460Gln) | |
18 | g.33744262A>G | CA402190855 | ASXL3 | c.4417A>G (p.Lys1473Glu) c.4414A>G (p.Lys1472Glu) c.4294A>G (p.Lys1432Glu) c.4390A>G (p.Lys1464Glu) c.4336A>G (p.Lys1446Glu) c.4297A>G (p.Lys1433Glu) c.4246A>G (p.Lys1416Glu) c.1378A>G (p.Lys460Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744262A>T | CA402190856 | ASXL3 | c.4417A>T (p.Lys1473Ter) c.4414A>T (p.Lys1472Ter) c.4294A>T (p.Lys1432Ter) c.4390A>T (p.Lys1464Ter) c.4336A>T (p.Lys1446Ter) c.4297A>T (p.Lys1433Ter) c.4246A>T (p.Lys1416Ter) c.1378A>T (p.Lys460Ter) | |
18 | g.33744263A>C | CA402190858 | ASXL3 | c.4418A>C (p.Lys1473Thr) c.4415A>C (p.Lys1472Thr) c.4295A>C (p.Lys1432Thr) c.4391A>C (p.Lys1464Thr) c.4337A>C (p.Lys1446Thr) c.4298A>C (p.Lys1433Thr) c.4247A>C (p.Lys1416Thr) c.1379A>C (p.Lys460Thr) | |
18 | g.33744263A>G | CA402190859 | ASXL3 | c.4418A>G (p.Lys1473Arg) c.4415A>G (p.Lys1472Arg) c.4295A>G (p.Lys1432Arg) c.4391A>G (p.Lys1464Arg) c.4337A>G (p.Lys1446Arg) c.4298A>G (p.Lys1433Arg) c.4247A>G (p.Lys1416Arg) c.1379A>G (p.Lys460Arg) | |
18 | g.33744263A>T | CA402190860 | ASXL3 | c.4418A>T (p.Lys1473Ile) c.4415A>T (p.Lys1472Ile) c.4295A>T (p.Lys1432Ile) c.4391A>T (p.Lys1464Ile) c.4337A>T (p.Lys1446Ile) c.4298A>T (p.Lys1433Ile) c.4247A>T (p.Lys1416Ile) c.1379A>T (p.Lys460Ile) | |
18 | g.33744264A= | CA2294858066 | ASXL3 | c.4419A= (p.Lys1473=) c.4416A= (p.Lys1472=) c.4296A= (p.Lys1432=) c.4392A= (p.Lys1464=) c.4338A= (p.Lys1446=) c.4299A= (p.Lys1433=) c.4248A= (p.Lys1416=) c.1380A= (p.Lys460=) | |
18 | g.33744264A>C | CA402190861 | ASXL3 | c.4419A>C (p.Lys1473Asn) c.4416A>C (p.Lys1472Asn) c.4296A>C (p.Lys1432Asn) c.4392A>C (p.Lys1464Asn) c.4338A>C (p.Lys1446Asn) c.4299A>C (p.Lys1433Asn) c.4248A>C (p.Lys1416Asn) c.1380A>C (p.Lys460Asn) | |
18 | g.33744264A>G | CA503770284 | ASXL3 | c.4419A>G (p.Lys1473=) c.4416A>G (p.Lys1472=) c.4296A>G (p.Lys1432=) c.4392A>G (p.Lys1464=) c.4338A>G (p.Lys1446=) c.4299A>G (p.Lys1433=) c.4248A>G (p.Lys1416=) c.1380A>G (p.Lys460=) | dbSNP |
18 | g.33744264A>T | CA402190862 | ASXL3 | c.4419A>T (p.Lys1473Asn) c.4416A>T (p.Lys1472Asn) c.4296A>T (p.Lys1432Asn) c.4392A>T (p.Lys1464Asn) c.4338A>T (p.Lys1446Asn) c.4299A>T (p.Lys1433Asn) c.4248A>T (p.Lys1416Asn) c.1380A>T (p.Lys460Asn) | |
18 | g.33744265G>A | CA402190863 | ASXL3 | c.4420G>A (p.Val1474Ile) c.4417G>A (p.Val1473Ile) c.4297G>A (p.Val1433Ile) c.4393G>A (p.Val1465Ile) c.4339G>A (p.Val1447Ile) c.4300G>A (p.Val1434Ile) c.4249G>A (p.Val1417Ile) c.1381G>A (p.Val461Ile) | |
18 | g.33744265G>C | CA402190864 | ASXL3 | c.4420G>C (p.Val1474Leu) c.4417G>C (p.Val1473Leu) c.4297G>C (p.Val1433Leu) c.4393G>C (p.Val1465Leu) c.4339G>C (p.Val1447Leu) c.4300G>C (p.Val1434Leu) c.4249G>C (p.Val1417Leu) c.1381G>C (p.Val461Leu) | |
18 | g.33744265G>T | CA402190865 | ASXL3 | c.4420G>T (p.Val1474Phe) c.4417G>T (p.Val1473Phe) c.4297G>T (p.Val1433Phe) c.4393G>T (p.Val1465Phe) c.4339G>T (p.Val1447Phe) c.4300G>T (p.Val1434Phe) c.4249G>T (p.Val1417Phe) c.1381G>T (p.Val461Phe) | |
18 | g.33744266T>A | CA402190866 | ASXL3 | c.4421T>A (p.Val1474Asp) c.4418T>A (p.Val1473Asp) c.4298T>A (p.Val1433Asp) c.4394T>A (p.Val1465Asp) c.4340T>A (p.Val1447Asp) c.4301T>A (p.Val1434Asp) c.4250T>A (p.Val1417Asp) c.1382T>A (p.Val461Asp) | |
18 | g.33744266T>C | CA402190867 | ASXL3 | c.4421T>C (p.Val1474Ala) c.4418T>C (p.Val1473Ala) c.4298T>C (p.Val1433Ala) c.4394T>C (p.Val1465Ala) c.4340T>C (p.Val1447Ala) c.4301T>C (p.Val1434Ala) c.4250T>C (p.Val1417Ala) c.1382T>C (p.Val461Ala) | |
18 | g.33744266T>G | CA402190868 | ASXL3 | c.4421T>G (p.Val1474Gly) c.4418T>G (p.Val1473Gly) c.4298T>G (p.Val1433Gly) c.4394T>G (p.Val1465Gly) c.4340T>G (p.Val1447Gly) c.4301T>G (p.Val1434Gly) c.4250T>G (p.Val1417Gly) c.1382T>G (p.Val461Gly) | |
18 | g.33744267C>A | CA8934258 | ASXL3 | c.4422C>A (p.Val1474=) c.4419C>A (p.Val1473=) c.4299C>A (p.Val1433=) c.4395C>A (p.Val1465=) c.4341C>A (p.Val1447=) c.4302C>A (p.Val1434=) c.4251C>A (p.Val1417=) c.1383C>A (p.Val461=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.33744267C= | CA2294858067 | ASXL3 | c.4422C= (p.Val1474=) c.4419C= (p.Val1473=) c.4299C= (p.Val1433=) c.4395C= (p.Val1465=) c.4341C= (p.Val1447=) c.4302C= (p.Val1434=) c.4251C= (p.Val1417=) c.1383C= (p.Val461=) | |
18 | g.33744267C>G | CA503770288 | ASXL3 | c.4422C>G (p.Val1474=) c.4419C>G (p.Val1473=) c.4299C>G (p.Val1433=) c.4395C>G (p.Val1465=) c.4341C>G (p.Val1447=) c.4302C>G (p.Val1434=) c.4251C>G (p.Val1417=) c.1383C>G (p.Val461=) | |
18 | g.33744267C>T | CA503770289 | ASXL3 | c.4422C>T (p.Val1474=) c.4419C>T (p.Val1473=) c.4299C>T (p.Val1433=) c.4395C>T (p.Val1465=) c.4341C>T (p.Val1447=) c.4302C>T (p.Val1434=) c.4251C>T (p.Val1417=) c.1383C>T (p.Val461=) | |
18 | g.33744268A= | CA2294858068 | ASXL3 | c.4423A= (p.Ile1475=) c.4420A= (p.Ile1474=) c.4300A= (p.Ile1434=) c.4396A= (p.Ile1466=) c.4342A= (p.Ile1448=) c.4303A= (p.Ile1435=) c.4252A= (p.Ile1418=) c.1384A= (p.Ile462=) | |
18 | g.33744268A>C | CA402190871 | ASXL3 | c.4423A>C (p.Ile1475Leu) c.4420A>C (p.Ile1474Leu) c.4300A>C (p.Ile1434Leu) c.4396A>C (p.Ile1466Leu) c.4342A>C (p.Ile1448Leu) c.4303A>C (p.Ile1435Leu) c.4252A>C (p.Ile1418Leu) c.1384A>C (p.Ile462Leu) | |
18 | g.33744268A>G | CA402190870 | ASXL3 | c.4423A>G (p.Ile1475Val) c.4420A>G (p.Ile1474Val) c.4300A>G (p.Ile1434Val) c.4396A>G (p.Ile1466Val) c.4342A>G (p.Ile1448Val) c.4303A>G (p.Ile1435Val) c.4252A>G (p.Ile1418Val) c.1384A>G (p.Ile462Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744268A>T | CA402190869 | ASXL3 | c.4423A>T (p.Ile1475Phe) c.4420A>T (p.Ile1474Phe) c.4300A>T (p.Ile1434Phe) c.4396A>T (p.Ile1466Phe) c.4342A>T (p.Ile1448Phe) c.4303A>T (p.Ile1435Phe) c.4252A>T (p.Ile1418Phe) c.1384A>T (p.Ile462Phe) | |
18 | g.33744269T>A | CA402190872 | ASXL3 | c.4424T>A (p.Ile1475Asn) c.4421T>A (p.Ile1474Asn) c.4301T>A (p.Ile1434Asn) c.4397T>A (p.Ile1466Asn) c.4343T>A (p.Ile1448Asn) c.4304T>A (p.Ile1435Asn) c.4253T>A (p.Ile1418Asn) c.1385T>A (p.Ile462Asn) | |
18 | g.33744269T>C | CA402190873 | ASXL3 | c.4424T>C (p.Ile1475Thr) c.4421T>C (p.Ile1474Thr) c.4301T>C (p.Ile1434Thr) c.4397T>C (p.Ile1466Thr) c.4343T>C (p.Ile1448Thr) c.4304T>C (p.Ile1435Thr) c.4253T>C (p.Ile1418Thr) c.1385T>C (p.Ile462Thr) | |
18 | g.33744269T>G | CA402190874 | ASXL3 | c.4424T>G (p.Ile1475Ser) c.4421T>G (p.Ile1474Ser) c.4301T>G (p.Ile1434Ser) c.4397T>G (p.Ile1466Ser) c.4343T>G (p.Ile1448Ser) c.4304T>G (p.Ile1435Ser) c.4253T>G (p.Ile1418Ser) c.1385T>G (p.Ile462Ser) | |
18 | g.33744270C>A | CA503770292 | ASXL3 | c.4425C>A (p.Ile1475=) c.4422C>A (p.Ile1474=) c.4302C>A (p.Ile1434=) c.4398C>A (p.Ile1466=) c.4344C>A (p.Ile1448=) c.4305C>A (p.Ile1435=) c.4254C>A (p.Ile1418=) c.1386C>A (p.Ile462=) | dbSNP |
18 | g.33744270C= | CA2294858069 | ASXL3 | c.4425C= (p.Ile1475=) c.4422C= (p.Ile1474=) c.4302C= (p.Ile1434=) c.4398C= (p.Ile1466=) c.4344C= (p.Ile1448=) c.4305C= (p.Ile1435=) c.4254C= (p.Ile1418=) c.1386C= (p.Ile462=) | |
18 | g.33744270C>G | CA402190875 | ASXL3 | c.4425C>G (p.Ile1475Met) c.4422C>G (p.Ile1474Met) c.4302C>G (p.Ile1434Met) c.4398C>G (p.Ile1466Met) c.4344C>G (p.Ile1448Met) c.4305C>G (p.Ile1435Met) c.4254C>G (p.Ile1418Met) c.1386C>G (p.Ile462Met) | |
18 | g.33744270C>T | CA503770296 | ASXL3 | c.4425C>T (p.Ile1475=) c.4422C>T (p.Ile1474=) c.4302C>T (p.Ile1434=) c.4398C>T (p.Ile1466=) c.4344C>T (p.Ile1448=) c.4305C>T (p.Ile1435=) c.4254C>T (p.Ile1418=) c.1386C>T (p.Ile462=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744271G>A | CA8934259 | ASXL3 | c.4426G>A (p.Val1476Ile) c.4423G>A (p.Val1475Ile) c.4303G>A (p.Val1435Ile) c.4399G>A (p.Val1467Ile) c.4345G>A (p.Val1449Ile) c.4306G>A (p.Val1436Ile) c.4255G>A (p.Val1419Ile) c.1387G>A (p.Val463Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744271G>C | CA402190876 | ASXL3 | c.4426G>C (p.Val1476Leu) c.4423G>C (p.Val1475Leu) c.4303G>C (p.Val1435Leu) c.4399G>C (p.Val1467Leu) c.4345G>C (p.Val1449Leu) c.4306G>C (p.Val1436Leu) c.4255G>C (p.Val1419Leu) c.1387G>C (p.Val463Leu) | |
18 | g.33744271G= | CA2294858070 | ASXL3 | c.4426G= (p.Val1476=) c.4423G= (p.Val1475=) c.4303G= (p.Val1435=) c.4399G= (p.Val1467=) c.4345G= (p.Val1449=) c.4306G= (p.Val1436=) c.4255G= (p.Val1419=) c.1387G= (p.Val463=) | |
18 | g.33744271G>T | CA402190877 | ASXL3 | c.4426G>T (p.Val1476Phe) c.4423G>T (p.Val1475Phe) c.4303G>T (p.Val1435Phe) c.4399G>T (p.Val1467Phe) c.4345G>T (p.Val1449Phe) c.4306G>T (p.Val1436Phe) c.4255G>T (p.Val1419Phe) c.1387G>T (p.Val463Phe) | |
18 | g.33744272T>A | CA402190878 | ASXL3 | c.4427T>A (p.Val1476Asp) c.4424T>A (p.Val1475Asp) c.4304T>A (p.Val1435Asp) c.4400T>A (p.Val1467Asp) c.4346T>A (p.Val1449Asp) c.4307T>A (p.Val1436Asp) c.4256T>A (p.Val1419Asp) c.1388T>A (p.Val463Asp) | COSMIC |
18 | g.33744272T>C | CA402190879 | ASXL3 | c.4427T>C (p.Val1476Ala) c.4424T>C (p.Val1475Ala) c.4304T>C (p.Val1435Ala) c.4400T>C (p.Val1467Ala) c.4346T>C (p.Val1449Ala) c.4307T>C (p.Val1436Ala) c.4256T>C (p.Val1419Ala) c.1388T>C (p.Val463Ala) | gnomAD v4 |
18 | g.33744272T>G | CA402190880 | ASXL3 | c.4427T>G (p.Val1476Gly) c.4424T>G (p.Val1475Gly) c.4304T>G (p.Val1435Gly) c.4400T>G (p.Val1467Gly) c.4346T>G (p.Val1449Gly) c.4307T>G (p.Val1436Gly) c.4256T>G (p.Val1419Gly) c.1388T>G (p.Val463Gly) | |
18 | g.33744273T>A | CA503770301 | ASXL3 | c.4428T>A (p.Val1476=) c.4425T>A (p.Val1475=) c.4305T>A (p.Val1435=) c.4401T>A (p.Val1467=) c.4347T>A (p.Val1449=) c.4308T>A (p.Val1436=) c.4257T>A (p.Val1419=) c.1389T>A (p.Val463=) | |
18 | g.33744273T>C | CA503770303 | ASXL3 | c.4428T>C (p.Val1476=) c.4425T>C (p.Val1475=) c.4305T>C (p.Val1435=) c.4401T>C (p.Val1467=) c.4347T>C (p.Val1449=) c.4308T>C (p.Val1436=) c.4257T>C (p.Val1419=) c.1389T>C (p.Val463=) | |
18 | g.33744273T>G | CA503770305 | ASXL3 | c.4428T>G (p.Val1476=) c.4425T>G (p.Val1475=) c.4305T>G (p.Val1435=) c.4401T>G (p.Val1467=) c.4347T>G (p.Val1449=) c.4308T>G (p.Val1436=) c.4257T>G (p.Val1419=) c.1389T>G (p.Val463=) | |
18 | g.33744274G>A | CA402190881 | ASXL3 | c.4429G>A (p.Asp1477Asn) c.4426G>A (p.Asp1476Asn) c.4306G>A (p.Asp1436Asn) c.4402G>A (p.Asp1468Asn) c.4348G>A (p.Asp1450Asn) c.4309G>A (p.Asp1437Asn) c.4258G>A (p.Asp1420Asn) c.1390G>A (p.Asp464Asn) | |
18 | g.33744274G>C | CA402190882 | ASXL3 | c.4429G>C (p.Asp1477His) c.4426G>C (p.Asp1476His) c.4306G>C (p.Asp1436His) c.4402G>C (p.Asp1468His) c.4348G>C (p.Asp1450His) c.4309G>C (p.Asp1437His) c.4258G>C (p.Asp1420His) c.1390G>C (p.Asp464His) | |
18 | g.33744274G>T | CA402190883 | ASXL3 | c.4429G>T (p.Asp1477Tyr) c.4426G>T (p.Asp1476Tyr) c.4306G>T (p.Asp1436Tyr) c.4402G>T (p.Asp1468Tyr) c.4348G>T (p.Asp1450Tyr) c.4309G>T (p.Asp1437Tyr) c.4258G>T (p.Asp1420Tyr) c.1390G>T (p.Asp464Tyr) | |
18 | g.33744275A>C | CA402190885 | ASXL3 | c.4430A>C (p.Asp1477Ala) c.4427A>C (p.Asp1476Ala) c.4307A>C (p.Asp1436Ala) c.4403A>C (p.Asp1468Ala) c.4349A>C (p.Asp1450Ala) c.4310A>C (p.Asp1437Ala) c.4259A>C (p.Asp1420Ala) c.1391A>C (p.Asp464Ala) | |
18 | g.33744275A>G | CA402190886 | ASXL3 | c.4430A>G (p.Asp1477Gly) c.4427A>G (p.Asp1476Gly) c.4307A>G (p.Asp1436Gly) c.4403A>G (p.Asp1468Gly) c.4349A>G (p.Asp1450Gly) c.4310A>G (p.Asp1437Gly) c.4259A>G (p.Asp1420Gly) c.1391A>G (p.Asp464Gly) | |
18 | g.33744275A>T | CA402190884 | ASXL3 | c.4430A>T (p.Asp1477Val) c.4427A>T (p.Asp1476Val) c.4307A>T (p.Asp1436Val) c.4403A>T (p.Asp1468Val) c.4349A>T (p.Asp1450Val) c.4310A>T (p.Asp1437Val) c.4259A>T (p.Asp1420Val) c.1391A>T (p.Asp464Val) | |
18 | g.33744276C>A | CA402190887 | ASXL3 | c.4431C>A (p.Asp1477Glu) c.4428C>A (p.Asp1476Glu) c.4308C>A (p.Asp1436Glu) c.4404C>A (p.Asp1468Glu) c.4350C>A (p.Asp1450Glu) c.4311C>A (p.Asp1437Glu) c.4260C>A (p.Asp1420Glu) c.1392C>A (p.Asp464Glu) | |
18 | g.33744276C>G | CA402190888 | ASXL3 | c.4431C>G (p.Asp1477Glu) c.4428C>G (p.Asp1476Glu) c.4308C>G (p.Asp1436Glu) c.4404C>G (p.Asp1468Glu) c.4350C>G (p.Asp1450Glu) c.4311C>G (p.Asp1437Glu) c.4260C>G (p.Asp1420Glu) c.1392C>G (p.Asp464Glu) | |
18 | g.33744276C>T | CA503770310 | ASXL3 | c.4431C>T (p.Asp1477=) c.4428C>T (p.Asp1476=) c.4308C>T (p.Asp1436=) c.4404C>T (p.Asp1468=) c.4350C>T (p.Asp1450=) c.4311C>T (p.Asp1437=) c.4260C>T (p.Asp1420=) c.1392C>T (p.Asp464=) | |
18 | g.33744277C>A | CA402190889 | ASXL3 | c.4432C>A (p.His1478Asn) c.4429C>A (p.His1477Asn) c.4309C>A (p.His1437Asn) c.4405C>A (p.His1469Asn) c.4351C>A (p.His1451Asn) c.4312C>A (p.His1438Asn) c.4261C>A (p.His1421Asn) c.1393C>A (p.His465Asn) | |
18 | g.33744277C>G | CA402190890 | ASXL3 | c.4432C>G (p.His1478Asp) c.4429C>G (p.His1477Asp) c.4309C>G (p.His1437Asp) c.4405C>G (p.His1469Asp) c.4351C>G (p.His1451Asp) c.4312C>G (p.His1438Asp) c.4261C>G (p.His1421Asp) c.1393C>G (p.His465Asp) | |
18 | g.33744277C>T | CA402190891 | ASXL3 | c.4432C>T (p.His1478Tyr) c.4429C>T (p.His1477Tyr) c.4309C>T (p.His1437Tyr) c.4405C>T (p.His1469Tyr) c.4351C>T (p.His1451Tyr) c.4312C>T (p.His1438Tyr) c.4261C>T (p.His1421Tyr) c.1393C>T (p.His465Tyr) | COSMIC |
18 | g.33744278A>C | CA402190892 | ASXL3 | c.4433A>C (p.His1478Pro) c.4430A>C (p.His1477Pro) c.4310A>C (p.His1437Pro) c.4406A>C (p.His1469Pro) c.4352A>C (p.His1451Pro) c.4313A>C (p.His1438Pro) c.4262A>C (p.His1421Pro) c.1394A>C (p.His465Pro) | |
18 | g.33744278A>G | CA402190893 | ASXL3 | c.4433A>G (p.His1478Arg) c.4430A>G (p.His1477Arg) c.4310A>G (p.His1437Arg) c.4406A>G (p.His1469Arg) c.4352A>G (p.His1451Arg) c.4313A>G (p.His1438Arg) c.4262A>G (p.His1421Arg) c.1394A>G (p.His465Arg) | |
18 | g.33744278A>T | CA402190894 | ASXL3 | c.4433A>T (p.His1478Leu) c.4430A>T (p.His1477Leu) c.4310A>T (p.His1437Leu) c.4406A>T (p.His1469Leu) c.4352A>T (p.His1451Leu) c.4313A>T (p.His1438Leu) c.4262A>T (p.His1421Leu) c.1394A>T (p.His465Leu) | |
18 | g.33744279C>A | CA402190895 | ASXL3 | c.4434C>A (p.His1478Gln) c.4431C>A (p.His1477Gln) c.4311C>A (p.His1437Gln) c.4407C>A (p.His1469Gln) c.4353C>A (p.His1451Gln) c.4314C>A (p.His1438Gln) c.4263C>A (p.His1421Gln) c.1395C>A (p.His465Gln) | |
18 | g.33744279C>G | CA402190896 | ASXL3 | c.4434C>G (p.His1478Gln) c.4431C>G (p.His1477Gln) c.4311C>G (p.His1437Gln) c.4407C>G (p.His1469Gln) c.4353C>G (p.His1451Gln) c.4314C>G (p.His1438Gln) c.4263C>G (p.His1421Gln) c.1395C>G (p.His465Gln) | |
18 | g.33744279C>T | CA503770320 | ASXL3 | c.4434C>T (p.His1478=) c.4431C>T (p.His1477=) c.4311C>T (p.His1437=) c.4407C>T (p.His1469=) c.4353C>T (p.His1451=) c.4314C>T (p.His1438=) c.4263C>T (p.His1421=) c.1395C>T (p.His465=) | gnomAD v4 |
18 | g.33744280A>C | CA402190897 | ASXL3 | c.4435A>C (p.Ser1479Arg) c.4432A>C (p.Ser1478Arg) c.4312A>C (p.Ser1438Arg) c.4408A>C (p.Ser1470Arg) c.4354A>C (p.Ser1452Arg) c.4315A>C (p.Ser1439Arg) c.4264A>C (p.Ser1422Arg) c.1396A>C (p.Ser466Arg) | |
18 | g.33744280A>G | CA402190898 | ASXL3 | c.4435A>G (p.Ser1479Gly) c.4432A>G (p.Ser1478Gly) c.4312A>G (p.Ser1438Gly) c.4408A>G (p.Ser1470Gly) c.4354A>G (p.Ser1452Gly) c.4315A>G (p.Ser1439Gly) c.4264A>G (p.Ser1422Gly) c.1396A>G (p.Ser466Gly) | |
18 | g.33744280A>T | CA402190899 | ASXL3 | c.4435A>T (p.Ser1479Cys) c.4432A>T (p.Ser1478Cys) c.4312A>T (p.Ser1438Cys) c.4408A>T (p.Ser1470Cys) c.4354A>T (p.Ser1452Cys) c.4315A>T (p.Ser1439Cys) c.4264A>T (p.Ser1422Cys) c.1396A>T (p.Ser466Cys) | COSMIC |
18 | g.33744281G>A | CA402190902 | ASXL3 | c.4436G>A (p.Ser1479Asn) c.4433G>A (p.Ser1478Asn) c.4313G>A (p.Ser1438Asn) c.4409G>A (p.Ser1470Asn) c.4355G>A (p.Ser1452Asn) c.4316G>A (p.Ser1439Asn) c.4265G>A (p.Ser1422Asn) c.1397G>A (p.Ser466Asn) | |
18 | g.33744281G>C | CA402190901 | ASXL3 | c.4436G>C (p.Ser1479Thr) c.4433G>C (p.Ser1478Thr) c.4313G>C (p.Ser1438Thr) c.4409G>C (p.Ser1470Thr) c.4355G>C (p.Ser1452Thr) c.4316G>C (p.Ser1439Thr) c.4265G>C (p.Ser1422Thr) c.1397G>C (p.Ser466Thr) | |
18 | g.33744281G>T | CA402190900 | ASXL3 | c.4436G>T (p.Ser1479Ile) c.4433G>T (p.Ser1478Ile) c.4313G>T (p.Ser1438Ile) c.4409G>T (p.Ser1470Ile) c.4355G>T (p.Ser1452Ile) c.4316G>T (p.Ser1439Ile) c.4265G>T (p.Ser1422Ile) c.1397G>T (p.Ser466Ile) | |
18 | g.33744282C>A | CA402190903 | ASXL3 | c.4437C>A (p.Ser1479Arg) c.4434C>A (p.Ser1478Arg) c.4314C>A (p.Ser1438Arg) c.4410C>A (p.Ser1470Arg) c.4356C>A (p.Ser1452Arg) c.4317C>A (p.Ser1439Arg) c.4266C>A (p.Ser1422Arg) c.1398C>A (p.Ser466Arg) | |
18 | g.33744282C= | CA2294858071 | ASXL3 | c.4437C= (p.Ser1479=) c.4434C= (p.Ser1478=) c.4314C= (p.Ser1438=) c.4410C= (p.Ser1470=) c.4356C= (p.Ser1452=) c.4317C= (p.Ser1439=) c.4266C= (p.Ser1422=) c.1398C= (p.Ser466=) | |
18 | g.33744282C>G | CA402190904 | ASXL3 | c.4437C>G (p.Ser1479Arg) c.4434C>G (p.Ser1478Arg) c.4314C>G (p.Ser1438Arg) c.4410C>G (p.Ser1470Arg) c.4356C>G (p.Ser1452Arg) c.4317C>G (p.Ser1439Arg) c.4266C>G (p.Ser1422Arg) c.1398C>G (p.Ser466Arg) | |
18 | g.33744282C>T | CA8934260 | ASXL3 | c.4437C>T (p.Ser1479=) c.4434C>T (p.Ser1478=) c.4314C>T (p.Ser1438=) c.4410C>T (p.Ser1470=) c.4356C>T (p.Ser1452=) c.4317C>T (p.Ser1439=) c.4266C>T (p.Ser1422=) c.1398C>T (p.Ser466=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744283A= | CA2294858072 | ASXL3 | c.4438A= (p.Thr1480=) c.4435A= (p.Thr1479=) c.4315A= (p.Thr1439=) c.4411A= (p.Thr1471=) c.4357A= (p.Thr1453=) c.4318A= (p.Thr1440=) c.4267A= (p.Thr1423=) c.1399A= (p.Thr467=) | |
18 | g.33744283A>C | CA402190905 | ASXL3 | c.4438A>C (p.Thr1480Pro) c.4435A>C (p.Thr1479Pro) c.4315A>C (p.Thr1439Pro) c.4411A>C (p.Thr1471Pro) c.4357A>C (p.Thr1453Pro) c.4318A>C (p.Thr1440Pro) c.4267A>C (p.Thr1423Pro) c.1399A>C (p.Thr467Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744283A>G | CA402190906 | ASXL3 | c.4438A>G (p.Thr1480Ala) c.4435A>G (p.Thr1479Ala) c.4315A>G (p.Thr1439Ala) c.4411A>G (p.Thr1471Ala) c.4357A>G (p.Thr1453Ala) c.4318A>G (p.Thr1440Ala) c.4267A>G (p.Thr1423Ala) c.1399A>G (p.Thr467Ala) | |
18 | g.33744283A>T | CA402190907 | ASXL3 | c.4438A>T (p.Thr1480Ser) c.4435A>T (p.Thr1479Ser) c.4315A>T (p.Thr1439Ser) c.4411A>T (p.Thr1471Ser) c.4357A>T (p.Thr1453Ser) c.4318A>T (p.Thr1440Ser) c.4267A>T (p.Thr1423Ser) c.1399A>T (p.Thr467Ser) | |
18 | g.33744284C>A | CA402190908 | ASXL3 | c.4439C>A (p.Thr1480Asn) c.4436C>A (p.Thr1479Asn) c.4316C>A (p.Thr1439Asn) c.4412C>A (p.Thr1471Asn) c.4358C>A (p.Thr1453Asn) c.4319C>A (p.Thr1440Asn) c.4268C>A (p.Thr1423Asn) c.1400C>A (p.Thr467Asn) | dbSNP gnomAD v2 |
18 | g.33744284C= | CA2294858073 | ASXL3 | c.4439C= (p.Thr1480=) c.4436C= (p.Thr1479=) c.4316C= (p.Thr1439=) c.4412C= (p.Thr1471=) c.4358C= (p.Thr1453=) c.4319C= (p.Thr1440=) c.4268C= (p.Thr1423=) c.1400C= (p.Thr467=) | |
18 | g.33744284C>G | CA402190909 | ASXL3 | c.4439C>G (p.Thr1480Ser) c.4436C>G (p.Thr1479Ser) c.4316C>G (p.Thr1439Ser) c.4412C>G (p.Thr1471Ser) c.4358C>G (p.Thr1453Ser) c.4319C>G (p.Thr1440Ser) c.4268C>G (p.Thr1423Ser) c.1400C>G (p.Thr467Ser) | gnomAD v4 |
18 | g.33744284C>T | CA402190910 | ASXL3 | c.4439C>T (p.Thr1480Ile) c.4436C>T (p.Thr1479Ile) c.4316C>T (p.Thr1439Ile) c.4412C>T (p.Thr1471Ile) c.4358C>T (p.Thr1453Ile) c.4319C>T (p.Thr1440Ile) c.4268C>T (p.Thr1423Ile) c.1400C>T (p.Thr467Ile) | |
18 | g.33744285C>A | CA503770332 | ASXL3 | c.4440C>A (p.Thr1480=) c.4437C>A (p.Thr1479=) c.4317C>A (p.Thr1439=) c.4413C>A (p.Thr1471=) c.4359C>A (p.Thr1453=) c.4320C>A (p.Thr1440=) c.4269C>A (p.Thr1423=) c.1401C>A (p.Thr467=) | |
18 | g.33744285C>G | CA503770331 | ASXL3 | c.4440C>G (p.Thr1480=) c.4437C>G (p.Thr1479=) c.4317C>G (p.Thr1439=) c.4413C>G (p.Thr1471=) c.4359C>G (p.Thr1453=) c.4320C>G (p.Thr1440=) c.4269C>G (p.Thr1423=) c.1401C>G (p.Thr467=) | |
18 | g.33744285C>T | CA503770329 | ASXL3 | c.4440C>T (p.Thr1480=) c.4437C>T (p.Thr1479=) c.4317C>T (p.Thr1439=) c.4413C>T (p.Thr1471=) c.4359C>T (p.Thr1453=) c.4320C>T (p.Thr1440=) c.4269C>T (p.Thr1423=) c.1401C>T (p.Thr467=) | |
18 | g.33744286A>C | CA402190911 | ASXL3 | c.4441A>C (p.Thr1481Pro) c.4438A>C (p.Thr1480Pro) c.4318A>C (p.Thr1440Pro) c.4414A>C (p.Thr1472Pro) c.4360A>C (p.Thr1454Pro) c.4321A>C (p.Thr1441Pro) c.4270A>C (p.Thr1424Pro) c.1402A>C (p.Thr468Pro) | gnomAD v4 |
18 | g.33744286A>G | CA402190912 | ASXL3 | c.4441A>G (p.Thr1481Ala) c.4438A>G (p.Thr1480Ala) c.4318A>G (p.Thr1440Ala) c.4414A>G (p.Thr1472Ala) c.4360A>G (p.Thr1454Ala) c.4321A>G (p.Thr1441Ala) c.4270A>G (p.Thr1424Ala) c.1402A>G (p.Thr468Ala) | |
18 | g.33744286A>T | CA402190913 | ASXL3 | c.4441A>T (p.Thr1481Ser) c.4438A>T (p.Thr1480Ser) c.4318A>T (p.Thr1440Ser) c.4414A>T (p.Thr1472Ser) c.4360A>T (p.Thr1454Ser) c.4321A>T (p.Thr1441Ser) c.4270A>T (p.Thr1424Ser) c.1402A>T (p.Thr468Ser) | COSMIC |
18 | g.33744287C>A | CA402190915 | ASXL3 | c.4442C>A (p.Thr1481Lys) c.4439C>A (p.Thr1480Lys) c.4319C>A (p.Thr1440Lys) c.4415C>A (p.Thr1472Lys) c.4361C>A (p.Thr1454Lys) c.4322C>A (p.Thr1441Lys) c.4271C>A (p.Thr1424Lys) c.1403C>A (p.Thr468Lys) | gnomAD v4 |
18 | g.33744287C= | CA2294858074 | ASXL3 | c.4442C= (p.Thr1481=) c.4439C= (p.Thr1480=) c.4319C= (p.Thr1440=) c.4415C= (p.Thr1472=) c.4361C= (p.Thr1454=) c.4322C= (p.Thr1441=) c.4271C= (p.Thr1424=) c.1403C= (p.Thr468=) | |
18 | g.33744287C>G | CA402190914 | ASXL3 | c.4442C>G (p.Thr1481Arg) c.4439C>G (p.Thr1480Arg) c.4319C>G (p.Thr1440Arg) c.4415C>G (p.Thr1472Arg) c.4361C>G (p.Thr1454Arg) c.4322C>G (p.Thr1441Arg) c.4271C>G (p.Thr1424Arg) c.1403C>G (p.Thr468Arg) | |
18 | g.33744287C>T | CA8934261 | ASXL3 | c.4442C>T (p.Thr1481Met) c.4439C>T (p.Thr1480Met) c.4319C>T (p.Thr1440Met) c.4415C>T (p.Thr1472Met) c.4361C>T (p.Thr1454Met) c.4322C>T (p.Thr1441Met) c.4271C>T (p.Thr1424Met) c.1403C>T (p.Thr468Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744288G>A | CA8934262 | ASXL3 | c.4443G>A (p.Thr1481=) c.4440G>A (p.Thr1480=) c.4320G>A (p.Thr1440=) c.4416G>A (p.Thr1472=) c.4362G>A (p.Thr1454=) c.4323G>A (p.Thr1441=) c.4272G>A (p.Thr1424=) c.1404G>A (p.Thr468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744288G>C | CA503770336 | ASXL3 | c.4443G>C (p.Thr1481=) c.4440G>C (p.Thr1480=) c.4320G>C (p.Thr1440=) c.4416G>C (p.Thr1472=) c.4362G>C (p.Thr1454=) c.4323G>C (p.Thr1441=) c.4272G>C (p.Thr1424=) c.1404G>C (p.Thr468=) | |
18 | g.33744288G= | CA2294858075 | ASXL3 | c.4443G= (p.Thr1481=) c.4440G= (p.Thr1480=) c.4320G= (p.Thr1440=) c.4416G= (p.Thr1472=) c.4362G= (p.Thr1454=) c.4323G= (p.Thr1441=) c.4272G= (p.Thr1424=) c.1404G= (p.Thr468=) | |
18 | g.33744288G>T | CA503770338 | ASXL3 | c.4443G>T (p.Thr1481=) c.4440G>T (p.Thr1480=) c.4320G>T (p.Thr1440=) c.4416G>T (p.Thr1472=) c.4362G>T (p.Thr1454=) c.4323G>T (p.Thr1441=) c.4272G>T (p.Thr1424=) c.1404G>T (p.Thr468=) | gnomAD v4 |
18 | g.33744289C>A | CA402190916 | ASXL3 | c.4444C>A (p.Leu1482Met) c.4441C>A (p.Leu1481Met) c.4321C>A (p.Leu1441Met) c.4417C>A (p.Leu1473Met) c.4363C>A (p.Leu1455Met) c.4324C>A (p.Leu1442Met) c.4273C>A (p.Leu1425Met) c.1405C>A (p.Leu469Met) | |
18 | g.33744289C>G | CA402190917 | ASXL3 | c.4444C>G (p.Leu1482Val) c.4441C>G (p.Leu1481Val) c.4321C>G (p.Leu1441Val) c.4417C>G (p.Leu1473Val) c.4363C>G (p.Leu1455Val) c.4324C>G (p.Leu1442Val) c.4273C>G (p.Leu1425Val) c.1405C>G (p.Leu469Val) | |
18 | g.33744289C>T | CA503770342 | ASXL3 | c.4444C>T (p.Leu1482=) c.4441C>T (p.Leu1481=) c.4321C>T (p.Leu1441=) c.4417C>T (p.Leu1473=) c.4363C>T (p.Leu1455=) c.4324C>T (p.Leu1442=) c.4273C>T (p.Leu1425=) c.1405C>T (p.Leu469=) | |
18 | g.33744289dup | CA2695227408 | ASXL3 | c.4444dup (p.Leu1482ProfsTer12) c.4441dup (p.Leu1481ProfsTer12) c.4321dup (p.Leu1441ProfsTer12) c.4417dup (p.Leu1473ProfsTer12) c.4363dup (p.Leu1455ProfsTer12) c.4324dup (p.Leu1442ProfsTer12) c.4273dup (p.Leu1425ProfsTer12) c.1405dup (p.Leu469ProfsTer12) | |
18 | g.33744290T>A | CA402190918 | ASXL3 | c.4445T>A (p.Leu1482Gln) c.4442T>A (p.Leu1481Gln) c.4322T>A (p.Leu1441Gln) c.4418T>A (p.Leu1473Gln) c.4364T>A (p.Leu1455Gln) c.4325T>A (p.Leu1442Gln) c.4274T>A (p.Leu1425Gln) c.1406T>A (p.Leu469Gln) | |
18 | g.33744290T>C | CA402190919 | ASXL3 | c.4445T>C (p.Leu1482Pro) c.4442T>C (p.Leu1481Pro) c.4322T>C (p.Leu1441Pro) c.4418T>C (p.Leu1473Pro) c.4364T>C (p.Leu1455Pro) c.4325T>C (p.Leu1442Pro) c.4274T>C (p.Leu1425Pro) c.1406T>C (p.Leu469Pro) | dbSNP gnomAD v4 |
18 | g.33744290T>G | CA402190920 | ASXL3 | c.4445T>G (p.Leu1482Arg) c.4442T>G (p.Leu1481Arg) c.4322T>G (p.Leu1441Arg) c.4418T>G (p.Leu1473Arg) c.4364T>G (p.Leu1455Arg) c.4325T>G (p.Leu1442Arg) c.4274T>G (p.Leu1425Arg) c.1406T>G (p.Leu469Arg) | |
18 | g.33744290T= | CA2294858076 | ASXL3 | c.4445T= (p.Leu1482=) c.4442T= (p.Leu1481=) c.4322T= (p.Leu1441=) c.4418T= (p.Leu1473=) c.4364T= (p.Leu1455=) c.4325T= (p.Leu1442=) c.4274T= (p.Leu1425=) c.1406T= (p.Leu469=) | |
18 | g.33744291G>A | CA503770348 | ASXL3 | c.4446G>A (p.Leu1482=) c.4443G>A (p.Leu1481=) c.4323G>A (p.Leu1441=) c.4419G>A (p.Leu1473=) c.4365G>A (p.Leu1455=) c.4326G>A (p.Leu1442=) c.4275G>A (p.Leu1425=) c.1407G>A (p.Leu469=) | |
18 | g.33744291G>C | CA503770350 | ASXL3 | c.4446G>C (p.Leu1482=) c.4443G>C (p.Leu1481=) c.4323G>C (p.Leu1441=) c.4419G>C (p.Leu1473=) c.4365G>C (p.Leu1455=) c.4326G>C (p.Leu1442=) c.4275G>C (p.Leu1425=) c.1407G>C (p.Leu469=) | |
18 | g.33744291G>T | CA503770349 | ASXL3 | c.4446G>T (p.Leu1482=) c.4443G>T (p.Leu1481=) c.4323G>T (p.Leu1441=) c.4419G>T (p.Leu1473=) c.4365G>T (p.Leu1455=) c.4326G>T (p.Leu1442=) c.4275G>T (p.Leu1425=) c.1407G>T (p.Leu469=) | |
18 | g.33744292A>C | CA402190921 | ASXL3 | c.4447A>C (p.Thr1483Pro) c.4444A>C (p.Thr1482Pro) c.4324A>C (p.Thr1442Pro) c.4420A>C (p.Thr1474Pro) c.4366A>C (p.Thr1456Pro) c.4327A>C (p.Thr1443Pro) c.4276A>C (p.Thr1426Pro) c.1408A>C (p.Thr470Pro) | |
18 | g.33744292A>G | CA402190922 | ASXL3 | c.4447A>G (p.Thr1483Ala) c.4444A>G (p.Thr1482Ala) c.4324A>G (p.Thr1442Ala) c.4420A>G (p.Thr1474Ala) c.4366A>G (p.Thr1456Ala) c.4327A>G (p.Thr1443Ala) c.4276A>G (p.Thr1426Ala) c.1408A>G (p.Thr470Ala) | |
18 | g.33744292A>T | CA402190923 | ASXL3 | c.4447A>T (p.Thr1483Ser) c.4444A>T (p.Thr1482Ser) c.4324A>T (p.Thr1442Ser) c.4420A>T (p.Thr1474Ser) c.4366A>T (p.Thr1456Ser) c.4327A>T (p.Thr1443Ser) c.4276A>T (p.Thr1426Ser) c.1408A>T (p.Thr470Ser) | |
18 | g.33744293C>A | CA402190924 | ASXL3 | c.4448C>A (p.Thr1483Asn) c.4445C>A (p.Thr1482Asn) c.4325C>A (p.Thr1442Asn) c.4421C>A (p.Thr1474Asn) c.4367C>A (p.Thr1456Asn) c.4328C>A (p.Thr1443Asn) c.4277C>A (p.Thr1426Asn) c.1409C>A (p.Thr470Asn) | |
18 | g.33744293C>G | CA402190925 | ASXL3 | c.4448C>G (p.Thr1483Ser) c.4445C>G (p.Thr1482Ser) c.4325C>G (p.Thr1442Ser) c.4421C>G (p.Thr1474Ser) c.4367C>G (p.Thr1456Ser) c.4328C>G (p.Thr1443Ser) c.4277C>G (p.Thr1426Ser) c.1409C>G (p.Thr470Ser) | |
18 | g.33744293C>T | CA402190926 | ASXL3 | c.4448C>T (p.Thr1483Ile) c.4445C>T (p.Thr1482Ile) c.4325C>T (p.Thr1442Ile) c.4421C>T (p.Thr1474Ile) c.4367C>T (p.Thr1456Ile) c.4328C>T (p.Thr1443Ile) c.4277C>T (p.Thr1426Ile) c.1409C>T (p.Thr470Ile) | |
18 | g.33744294C>A | CA503770356 | ASXL3 | c.4449C>A (p.Thr1483=) c.4446C>A (p.Thr1482=) c.4326C>A (p.Thr1442=) c.4422C>A (p.Thr1474=) c.4368C>A (p.Thr1456=) c.4329C>A (p.Thr1443=) c.4278C>A (p.Thr1426=) c.1410C>A (p.Thr470=) | |
18 | g.33744294C>G | CA503770358 | ASXL3 | c.4449C>G (p.Thr1483=) c.4446C>G (p.Thr1482=) c.4326C>G (p.Thr1442=) c.4422C>G (p.Thr1474=) c.4368C>G (p.Thr1456=) c.4329C>G (p.Thr1443=) c.4278C>G (p.Thr1426=) c.1410C>G (p.Thr470=) | |
18 | g.33744294C>T | CA503770359 | ASXL3 | c.4449C>T (p.Thr1483=) c.4446C>T (p.Thr1482=) c.4326C>T (p.Thr1442=) c.4422C>T (p.Thr1474=) c.4368C>T (p.Thr1456=) c.4329C>T (p.Thr1443=) c.4278C>T (p.Thr1426=) c.1410C>T (p.Thr470=) | |
18 | g.33744295T>A | CA402190929 | ASXL3 | c.4450T>A (p.Ser1484Thr) c.4447T>A (p.Ser1483Thr) c.4327T>A (p.Ser1443Thr) c.4423T>A (p.Ser1475Thr) c.4369T>A (p.Ser1457Thr) c.4330T>A (p.Ser1444Thr) c.4279T>A (p.Ser1427Thr) c.1411T>A (p.Ser471Thr) | |
18 | g.33744295T>C | CA402190928 | ASXL3 | c.4450T>C (p.Ser1484Pro) c.4447T>C (p.Ser1483Pro) c.4327T>C (p.Ser1443Pro) c.4423T>C (p.Ser1475Pro) c.4369T>C (p.Ser1457Pro) c.4330T>C (p.Ser1444Pro) c.4279T>C (p.Ser1427Pro) c.1411T>C (p.Ser471Pro) | |
18 | g.33744295T>G | CA402190927 | ASXL3 | c.4450T>G (p.Ser1484Ala) c.4447T>G (p.Ser1483Ala) c.4327T>G (p.Ser1443Ala) c.4423T>G (p.Ser1475Ala) c.4369T>G (p.Ser1457Ala) c.4330T>G (p.Ser1444Ala) c.4279T>G (p.Ser1427Ala) c.1411T>G (p.Ser471Ala) | gnomAD v4 |
18 | g.33744296C>A | CA402190930 | ASXL3 | c.4451C>A (p.Ser1484Tyr) c.4448C>A (p.Ser1483Tyr) c.4328C>A (p.Ser1443Tyr) c.4424C>A (p.Ser1475Tyr) c.4370C>A (p.Ser1457Tyr) c.4331C>A (p.Ser1444Tyr) c.4280C>A (p.Ser1427Tyr) c.1412C>A (p.Ser471Tyr) | |
18 | g.33744296C>G | CA402190931 | ASXL3 | c.4451C>G (p.Ser1484Cys) c.4448C>G (p.Ser1483Cys) c.4328C>G (p.Ser1443Cys) c.4424C>G (p.Ser1475Cys) c.4370C>G (p.Ser1457Cys) c.4331C>G (p.Ser1444Cys) c.4280C>G (p.Ser1427Cys) c.1412C>G (p.Ser471Cys) | |
18 | g.33744296C>T | CA402190932 | ASXL3 | c.4451C>T (p.Ser1484Phe) c.4448C>T (p.Ser1483Phe) c.4328C>T (p.Ser1443Phe) c.4424C>T (p.Ser1475Phe) c.4370C>T (p.Ser1457Phe) c.4331C>T (p.Ser1444Phe) c.4280C>T (p.Ser1427Phe) c.1412C>T (p.Ser471Phe) | COSMIC |
18 | g.33744297C>A | CA503770361 | ASXL3 | c.4452C>A (p.Ser1484=) c.4449C>A (p.Ser1483=) c.4329C>A (p.Ser1443=) c.4425C>A (p.Ser1475=) c.4371C>A (p.Ser1457=) c.4332C>A (p.Ser1444=) c.4281C>A (p.Ser1427=) c.1413C>A (p.Ser471=) | |
18 | g.33744297C>G | CA503770364 | ASXL3 | c.4452C>G (p.Ser1484=) c.4449C>G (p.Ser1483=) c.4329C>G (p.Ser1443=) c.4425C>G (p.Ser1475=) c.4371C>G (p.Ser1457=) c.4332C>G (p.Ser1444=) c.4281C>G (p.Ser1427=) c.1413C>G (p.Ser471=) | |
18 | g.33744297C>T | CA503770363 | ASXL3 | c.4452C>T (p.Ser1484=) c.4449C>T (p.Ser1483=) c.4329C>T (p.Ser1443=) c.4425C>T (p.Ser1475=) c.4371C>T (p.Ser1457=) c.4332C>T (p.Ser1444=) c.4281C>T (p.Ser1427=) c.1413C>T (p.Ser471=) | |
18 | g.33744298A= | CA2294858077 | ASXL3 | c.4453A= (p.Ser1485=) c.4450A= (p.Ser1484=) c.4330A= (p.Ser1444=) c.4426A= (p.Ser1476=) c.4372A= (p.Ser1458=) c.4333A= (p.Ser1445=) c.4282A= (p.Ser1428=) c.1414A= (p.Ser472=) | |
18 | g.33744298A>C | CA402190933 | ASXL3 | c.4453A>C (p.Ser1485Arg) c.4450A>C (p.Ser1484Arg) c.4330A>C (p.Ser1444Arg) c.4426A>C (p.Ser1476Arg) c.4372A>C (p.Ser1458Arg) c.4333A>C (p.Ser1445Arg) c.4282A>C (p.Ser1428Arg) c.1414A>C (p.Ser472Arg) | ClinVar dbSNP gnomAD v4 |
18 | g.33744298A>G | CA402190934 | ASXL3 | c.4453A>G (p.Ser1485Gly) c.4450A>G (p.Ser1484Gly) c.4330A>G (p.Ser1444Gly) c.4426A>G (p.Ser1476Gly) c.4372A>G (p.Ser1458Gly) c.4333A>G (p.Ser1445Gly) c.4282A>G (p.Ser1428Gly) c.1414A>G (p.Ser472Gly) | gnomAD v4 |
18 | g.33744298A>T | CA402190935 | ASXL3 | c.4453A>T (p.Ser1485Cys) c.4450A>T (p.Ser1484Cys) c.4330A>T (p.Ser1444Cys) c.4426A>T (p.Ser1476Cys) c.4372A>T (p.Ser1458Cys) c.4333A>T (p.Ser1445Cys) c.4282A>T (p.Ser1428Cys) c.1414A>T (p.Ser472Cys) | |
18 | g.33744299G>A | CA8934263 | ASXL3 | c.4454G>A (p.Ser1485Asn) c.4451G>A (p.Ser1484Asn) c.4331G>A (p.Ser1444Asn) c.4427G>A (p.Ser1476Asn) c.4373G>A (p.Ser1458Asn) c.4334G>A (p.Ser1445Asn) c.4283G>A (p.Ser1428Asn) c.1415G>A (p.Ser472Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744299G>C | CA402190936 | ASXL3 | c.4454G>C (p.Ser1485Thr) c.4451G>C (p.Ser1484Thr) c.4331G>C (p.Ser1444Thr) c.4427G>C (p.Ser1476Thr) c.4373G>C (p.Ser1458Thr) c.4334G>C (p.Ser1445Thr) c.4283G>C (p.Ser1428Thr) c.1415G>C (p.Ser472Thr) | |
18 | g.33744299G= | CA2294858078 | ASXL3 | c.4454G= (p.Ser1485=) c.4451G= (p.Ser1484=) c.4331G= (p.Ser1444=) c.4427G= (p.Ser1476=) c.4373G= (p.Ser1458=) c.4334G= (p.Ser1445=) c.4283G= (p.Ser1428=) c.1415G= (p.Ser472=) | |
18 | g.33744299G>T | CA402190938 | ASXL3 | c.4454G>T (p.Ser1485Ile) c.4451G>T (p.Ser1484Ile) c.4331G>T (p.Ser1444Ile) c.4427G>T (p.Ser1476Ile) c.4373G>T (p.Ser1458Ile) c.4334G>T (p.Ser1445Ile) c.4283G>T (p.Ser1428Ile) c.1415G>T (p.Ser472Ile) | gnomAD v4 |