UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933373_41933390dup | CA1779195899 | KAT6A | c.4837_4854dup (p.Met1618_Met1619insGlySerSerCysSerMet) c.4843_4860dup (p.Met1620_Met1621insGlySerSerCysSerMet) c.3518_3535dup c.4969_4986dup (p.Met1662_Met1663insGlySerSerCysSerMet) c.4948_4965dup (p.Met1655_Met1656insGlySerSerCysSerMet) c.4855_4872dup (p.Met1624_Met1625insGlySerSerCysSerMet) c.3409_3426dup (p.Met1142_Met1143insGlySerSerCysSerMet) | ClinVar dbSNP |
| 8 | g.41933373_41933390del | CA2580078484 | KAT6A | c.4837_4854del (p.Gly1613_Met1618del) c.4843_4860del (p.Gly1615_Met1620del) c.3518_3535del c.4969_4986del (p.Gly1657_Met1662del) c.4948_4965del (p.Gly1650_Met1655del) c.4855_4872del (p.Gly1619_Met1624del) c.3409_3426del (p.Gly1137_Met1142del) | ClinVar gnomAD v4 |
| 8 | g.41933380_41933382del | CA2499598100 | KAT6A | c.4843_4845del (p.Ser1615del) c.4849_4851del (p.Ser1617del) c.3524_3526del c.4975_4977del (p.Ser1659del) c.4954_4956del (p.Ser1652del) c.4861_4863del (p.Ser1621del) c.3415_3417del (p.Ser1139del) | |
| 8 | g.41933382C>A | CA371064524 | KAT6A | c.4838G>T (p.Gly1613Val) c.4844G>T (p.Gly1615Val) c.3519G>T c.4970G>T (p.Gly1657Val) c.4949G>T (p.Gly1650Val) c.4856G>T (p.Gly1619Val) c.3410G>T (p.Gly1137Val) | gnomAD v4 |
| 8 | g.41933382C= | CA1779195907 | KAT6A | c.4838G= (p.Gly1613=) c.4844G= (p.Gly1615=) c.3519G= c.4970G= (p.Gly1657=) c.4949G= (p.Gly1650=) c.4856G= (p.Gly1619=) c.3410G= (p.Gly1137=) | |
| 8 | g.41933382C>G | CA371064525 | KAT6A | c.4838G>C (p.Gly1613Ala) c.4844G>C (p.Gly1615Ala) c.3519G>C c.4970G>C (p.Gly1657Ala) c.4949G>C (p.Gly1650Ala) c.4856G>C (p.Gly1619Ala) c.3410G>C (p.Gly1137Ala) | dbSNP |
| 8 | g.41933382C>T | CA371064526 | KAT6A | c.4838G>A (p.Gly1613Asp) c.4844G>A (p.Gly1615Asp) c.3519G>A c.4970G>A (p.Gly1657Asp) c.4949G>A (p.Gly1650Asp) c.4856G>A (p.Gly1619Asp) c.3410G>A (p.Gly1137Asp) | gnomAD v4 |
| 8 | g.41933382_41933391delinsCCCATGCTGG | CA1779195906 | KAT6A | c.4829_4838delinsCCAGCATGGG (p.Ala1610=) c.4835_4844delinsCCAGCATGGG (p.Ala1612=) c.3510_3519delinsCCAGCATGGG c.4961_4970delinsCCAGCATGGG (p.Ala1654=) c.4940_4949delinsCCAGCATGGG (p.Ala1647=) c.4847_4856delinsCCAGCATGGG (p.Ala1616=) c.3401_3410delinsCCAGCATGGG (p.Ala1134=) | |
| 8 | g.41933383C>A | CA371064527 | KAT6A | c.4837G>T (p.Gly1613Cys) c.4843G>T (p.Gly1615Cys) c.3518G>T c.4969G>T (p.Gly1657Cys) c.4948G>T (p.Gly1650Cys) c.4855G>T (p.Gly1619Cys) c.3409G>T (p.Gly1137Cys) | |
| 8 | g.41933383C>G | CA371064528 | KAT6A | c.4837G>C (p.Gly1613Arg) c.4843G>C (p.Gly1615Arg) c.3518G>C c.4969G>C (p.Gly1657Arg) c.4948G>C (p.Gly1650Arg) c.4855G>C (p.Gly1619Arg) c.3409G>C (p.Gly1137Arg) | |
| 8 | g.41933383C>T | CA371064529 | KAT6A | c.4837G>A (p.Gly1613Ser) c.4843G>A (p.Gly1615Ser) c.3518G>A c.4969G>A (p.Gly1657Ser) c.4948G>A (p.Gly1650Ser) c.4855G>A (p.Gly1619Ser) c.3409G>A (p.Gly1137Ser) | |
| 8 | g.41933387_41933395dup | CA581928326 | KAT6A | c.4829_4837dup (p.Met1612_Gly1613insAlaSerMet) c.4835_4843dup (p.Met1614_Gly1615insAlaSerMet) c.3510_3518dup c.4961_4969dup (p.Met1656_Gly1657insAlaSerMet) c.4940_4948dup (p.Met1649_Gly1650insAlaSerMet) c.4847_4855dup (p.Met1618_Gly1619insAlaSerMet) c.3401_3409dup (p.Met1136_Gly1137insAlaSerMet) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933387_41933395del | CA581928327 | KAT6A | c.4829_4837del (p.Ala1610_Met1612del) c.4835_4843del (p.Ala1612_Met1614del) c.3510_3518del c.4961_4969del (p.Ala1654_Met1656del) c.4940_4948del (p.Ala1647_Met1649del) c.4847_4855del (p.Ala1616_Met1618del) c.3401_3409del (p.Ala1134_Met1136del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933384C>A | CA371064532 | KAT6A | c.4836G>T (p.Met1612Ile) c.4842G>T (p.Met1614Ile) c.3517G>T c.4968G>T (p.Met1656Ile) c.4947G>T (p.Met1649Ile) c.4854G>T (p.Met1618Ile) c.3408G>T (p.Met1136Ile) | gnomAD v4 |
| 8 | g.41933384C>G | CA371064531 | KAT6A | c.4836G>C (p.Met1612Ile) c.4842G>C (p.Met1614Ile) c.3517G>C c.4968G>C (p.Met1656Ile) c.4947G>C (p.Met1649Ile) c.4854G>C (p.Met1618Ile) c.3408G>C (p.Met1136Ile) | |
| 8 | g.41933384C>T | CA371064530 | KAT6A | c.4836G>A (p.Met1612Ile) c.4842G>A (p.Met1614Ile) c.3517G>A c.4968G>A (p.Met1656Ile) c.4947G>A (p.Met1649Ile) c.4854G>A (p.Met1618Ile) c.3408G>A (p.Met1136Ile) | |
| 8 | g.41933385A= | CA1779195908 | KAT6A | c.4835T= (p.Met1612=) c.4841T= (p.Met1614=) c.3516T= c.4967T= (p.Met1656=) c.4946T= (p.Met1649=) c.4853T= (p.Met1618=) c.3407T= (p.Met1136=) | |
| 8 | g.41933385A>C | CA371064534 | KAT6A | c.4835T>G (p.Met1612Arg) c.4841T>G (p.Met1614Arg) c.3516T>G c.4967T>G (p.Met1656Arg) c.4946T>G (p.Met1649Arg) c.4853T>G (p.Met1618Arg) c.3407T>G (p.Met1136Arg) | dbSNP |
| 8 | g.41933385A>G | CA371064533 | KAT6A | c.4835T>C (p.Met1612Thr) c.4841T>C (p.Met1614Thr) c.3516T>C c.4967T>C (p.Met1656Thr) c.4946T>C (p.Met1649Thr) c.4853T>C (p.Met1618Thr) c.3407T>C (p.Met1136Thr) | |
| 8 | g.41933385A>T | CA371064535 | KAT6A | c.4835T>A (p.Met1612Lys) c.4841T>A (p.Met1614Lys) c.3516T>A c.4967T>A (p.Met1656Lys) c.4946T>A (p.Met1649Lys) c.4853T>A (p.Met1618Lys) c.3407T>A (p.Met1136Lys) | |
| 8 | g.41933386T>A | CA371064536 | KAT6A | c.4834A>T (p.Met1612Leu) c.4840A>T (p.Met1614Leu) c.3515A>T c.4966A>T (p.Met1656Leu) c.4945A>T (p.Met1649Leu) c.4852A>T (p.Met1618Leu) c.3406A>T (p.Met1136Leu) | ClinVar gnomAD v4 |
| 8 | g.41933386T>C | CA371064537 | KAT6A | c.4834A>G (p.Met1612Val) c.4840A>G (p.Met1614Val) c.3515A>G c.4966A>G (p.Met1656Val) c.4945A>G (p.Met1649Val) c.4852A>G (p.Met1618Val) c.3406A>G (p.Met1136Val) | |
| 8 | g.41933386T>G | CA371064538 | KAT6A | c.4834A>C (p.Met1612Leu) c.4840A>C (p.Met1614Leu) c.3515A>C c.4966A>C (p.Met1656Leu) c.4945A>C (p.Met1649Leu) c.4852A>C (p.Met1618Leu) c.3406A>C (p.Met1136Leu) | |
| 8 | g.41933387G>A | CA460783682 | KAT6A | c.4833C>T (p.Ser1611=) c.4839C>T (p.Ser1613=) c.3514C>T c.4965C>T (p.Ser1655=) c.4944C>T (p.Ser1648=) c.4851C>T (p.Ser1617=) c.3405C>T (p.Ser1135=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933387G>C | CA371064539 | KAT6A | c.4833C>G (p.Ser1611Arg) c.4839C>G (p.Ser1613Arg) c.3514C>G c.4965C>G (p.Ser1655Arg) c.4944C>G (p.Ser1648Arg) c.4851C>G (p.Ser1617Arg) c.3405C>G (p.Ser1135Arg) | |
| 8 | g.41933387G= | CA1779195909 | KAT6A | c.4833C= (p.Ser1611=) c.4839C= (p.Ser1613=) c.3514C= c.4965C= (p.Ser1655=) c.4944C= (p.Ser1648=) c.4851C= (p.Ser1617=) c.3405C= (p.Ser1135=) | |
| 8 | g.41933387G>T | CA371064540 | KAT6A | c.4833C>A (p.Ser1611Arg) c.4839C>A (p.Ser1613Arg) c.3514C>A c.4965C>A (p.Ser1655Arg) c.4944C>A (p.Ser1648Arg) c.4851C>A (p.Ser1617Arg) c.3405C>A (p.Ser1135Arg) | COSMIC |
| 8 | g.41933388C>A | CA371064541 | KAT6A | c.4832G>T (p.Ser1611Ile) c.4838G>T (p.Ser1613Ile) c.3513G>T c.4964G>T (p.Ser1655Ile) c.4943G>T (p.Ser1648Ile) c.4850G>T (p.Ser1617Ile) c.3404G>T (p.Ser1135Ile) | dbSNP gnomAD v4 |
| 8 | g.41933388C= | CA1779195910 | KAT6A | c.4832G= (p.Ser1611=) c.4838G= (p.Ser1613=) c.3513G= c.4964G= (p.Ser1655=) c.4943G= (p.Ser1648=) c.4850G= (p.Ser1617=) c.3404G= (p.Ser1135=) | |
| 8 | g.41933388C>G | CA371064542 | KAT6A | c.4832G>C (p.Ser1611Thr) c.4838G>C (p.Ser1613Thr) c.3513G>C c.4964G>C (p.Ser1655Thr) c.4943G>C (p.Ser1648Thr) c.4850G>C (p.Ser1617Thr) c.3404G>C (p.Ser1135Thr) | |
| 8 | g.41933388C>T | CA4729417 | KAT6A | c.4832G>A (p.Ser1611Asn) c.4838G>A (p.Ser1613Asn) c.3513G>A c.4964G>A (p.Ser1655Asn) c.4943G>A (p.Ser1648Asn) c.4850G>A (p.Ser1617Asn) c.3404G>A (p.Ser1135Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933389T>A | CA371064543 | KAT6A | c.4831A>T (p.Ser1611Cys) c.4837A>T (p.Ser1613Cys) c.3512A>T c.4963A>T (p.Ser1655Cys) c.4942A>T (p.Ser1648Cys) c.4849A>T (p.Ser1617Cys) c.3403A>T (p.Ser1135Cys) | |
| 8 | g.41933389T>C | CA371064544 | KAT6A | c.4831A>G (p.Ser1611Gly) c.4837A>G (p.Ser1613Gly) c.3512A>G c.4963A>G (p.Ser1655Gly) c.4942A>G (p.Ser1648Gly) c.4849A>G (p.Ser1617Gly) c.3403A>G (p.Ser1135Gly) | |
| 8 | g.41933389T>G | CA371064545 | KAT6A | c.4831A>C (p.Ser1611Arg) c.4837A>C (p.Ser1613Arg) c.3512A>C c.4963A>C (p.Ser1655Arg) c.4942A>C (p.Ser1648Arg) c.4849A>C (p.Ser1617Arg) c.3403A>C (p.Ser1135Arg) | |
| 8 | g.41933390G>A | CA4729418 | KAT6A | c.4830C>T (p.Ala1610=) c.4836C>T (p.Ala1612=) c.3511C>T c.4962C>T (p.Ala1654=) c.4941C>T (p.Ala1647=) c.4848C>T (p.Ala1616=) c.3402C>T (p.Ala1134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933390G>C | CA460783692 | KAT6A | c.4830C>G (p.Ala1610=) c.4836C>G (p.Ala1612=) c.3511C>G c.4962C>G (p.Ala1654=) c.4941C>G (p.Ala1647=) c.4848C>G (p.Ala1616=) c.3402C>G (p.Ala1134=) | |
| 8 | g.41933390G= | CA1779195911 | KAT6A | c.4830C= (p.Ala1610=) c.4836C= (p.Ala1612=) c.3511C= c.4962C= (p.Ala1654=) c.4941C= (p.Ala1647=) c.4848C= (p.Ala1616=) c.3402C= (p.Ala1134=) | |
| 8 | g.41933390G>T | CA460783694 | KAT6A | c.4830C>A (p.Ala1610=) c.4836C>A (p.Ala1612=) c.3511C>A c.4962C>A (p.Ala1654=) c.4941C>A (p.Ala1647=) c.4848C>A (p.Ala1616=) c.3402C>A (p.Ala1134=) | |
| 8 | g.41933391G>A | CA371064548 | KAT6A | c.4829C>T (p.Ala1610Val) c.4835C>T (p.Ala1612Val) c.3510C>T c.4961C>T (p.Ala1654Val) c.4940C>T (p.Ala1647Val) c.4847C>T (p.Ala1616Val) c.3401C>T (p.Ala1134Val) | gnomAD v4 |
| 8 | g.41933391G>C | CA371064546 | KAT6A | c.4829C>G (p.Ala1610Gly) c.4835C>G (p.Ala1612Gly) c.3510C>G c.4961C>G (p.Ala1654Gly) c.4940C>G (p.Ala1647Gly) c.4847C>G (p.Ala1616Gly) c.3401C>G (p.Ala1134Gly) | |
| 8 | g.41933391G>T | CA371064547 | KAT6A | c.4829C>A (p.Ala1610Asp) c.4835C>A (p.Ala1612Asp) c.3510C>A c.4961C>A (p.Ala1654Asp) c.4940C>A (p.Ala1647Asp) c.4847C>A (p.Ala1616Asp) c.3401C>A (p.Ala1134Asp) | gnomAD v4 |
| 8 | g.41933392C>A | CA371064549 | KAT6A | c.4828G>T (p.Ala1610Ser) c.4834G>T (p.Ala1612Ser) c.3509G>T c.4960G>T (p.Ala1654Ser) c.4939G>T (p.Ala1647Ser) c.4846G>T (p.Ala1616Ser) c.3400G>T (p.Ala1134Ser) | gnomAD v4 |
| 8 | g.41933392C= | CA1779195912 | KAT6A | c.4828G= (p.Ala1610=) c.4834G= (p.Ala1612=) c.3509G= c.4960G= (p.Ala1654=) c.4939G= (p.Ala1647=) c.4846G= (p.Ala1616=) c.3400G= (p.Ala1134=) | |
| 8 | g.41933392C>G | CA371064550 | KAT6A | c.4828G>C (p.Ala1610Pro) c.4834G>C (p.Ala1612Pro) c.3509G>C c.4960G>C (p.Ala1654Pro) c.4939G>C (p.Ala1647Pro) c.4846G>C (p.Ala1616Pro) c.3400G>C (p.Ala1134Pro) | |
| 8 | g.41933392C>T | CA371064551 | KAT6A | c.4828G>A (p.Ala1610Thr) c.4834G>A (p.Ala1612Thr) c.3509G>A c.4960G>A (p.Ala1654Thr) c.4939G>A (p.Ala1647Thr) c.4846G>A (p.Ala1616Thr) c.3400G>A (p.Ala1134Thr) | dbSNP gnomAD v4 |
| 8 | g.41933393C>A | CA371064552 | KAT6A | c.4827G>T (p.Met1609Ile) c.4833G>T (p.Met1611Ile) c.3508G>T c.4959G>T (p.Met1653Ile) c.4938G>T (p.Met1646Ile) c.4845G>T (p.Met1615Ile) c.3399G>T (p.Met1133Ile) | gnomAD v4 |
| 8 | g.41933393C>G | CA371064553 | KAT6A | c.4827G>C (p.Met1609Ile) c.4833G>C (p.Met1611Ile) c.3508G>C c.4959G>C (p.Met1653Ile) c.4938G>C (p.Met1646Ile) c.4845G>C (p.Met1615Ile) c.3399G>C (p.Met1133Ile) | |
| 8 | g.41933393C>T | CA371064554 | KAT6A | c.4827G>A (p.Met1609Ile) c.4833G>A (p.Met1611Ile) c.3508G>A c.4959G>A (p.Met1653Ile) c.4938G>A (p.Met1646Ile) c.4845G>A (p.Met1615Ile) c.3399G>A (p.Met1133Ile) | |
| 8 | g.41933394A>C | CA371064555 | KAT6A | c.4826T>G (p.Met1609Arg) c.4832T>G (p.Met1611Arg) c.3507T>G c.4958T>G (p.Met1653Arg) c.4937T>G (p.Met1646Arg) c.4844T>G (p.Met1615Arg) c.3398T>G (p.Met1133Arg) | |
| 8 | g.41933394A>G | CA371064556 | KAT6A | c.4826T>C (p.Met1609Thr) c.4832T>C (p.Met1611Thr) c.3507T>C c.4958T>C (p.Met1653Thr) c.4937T>C (p.Met1646Thr) c.4844T>C (p.Met1615Thr) c.3398T>C (p.Met1133Thr) | |
| 8 | g.41933394A>T | CA371064557 | KAT6A | c.4826T>A (p.Met1609Lys) c.4832T>A (p.Met1611Lys) c.3507T>A c.4958T>A (p.Met1653Lys) c.4937T>A (p.Met1646Lys) c.4844T>A (p.Met1615Lys) c.3398T>A (p.Met1133Lys) | |
| 8 | g.41933395T>A | CA371064558 | KAT6A | c.4825A>T (p.Met1609Leu) c.4831A>T (p.Met1611Leu) c.3506A>T c.4957A>T (p.Met1653Leu) c.4936A>T (p.Met1646Leu) c.4843A>T (p.Met1615Leu) c.3397A>T (p.Met1133Leu) | |
| 8 | g.41933395T>C | CA4729419 | KAT6A | c.4825A>G (p.Met1609Val) c.4831A>G (p.Met1611Val) c.3506A>G c.4957A>G (p.Met1653Val) c.4936A>G (p.Met1646Val) c.4843A>G (p.Met1615Val) c.3397A>G (p.Met1133Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933395T>G | CA371064559 | KAT6A | c.4825A>C (p.Met1609Leu) c.4831A>C (p.Met1611Leu) c.3506A>C c.4957A>C (p.Met1653Leu) c.4936A>C (p.Met1646Leu) c.4843A>C (p.Met1615Leu) c.3397A>C (p.Met1133Leu) | dbSNP gnomAD v4 |
| 8 | g.41933395T= | CA1779195913 | KAT6A | c.4825A= (p.Met1609=) c.4831A= (p.Met1611=) c.3506A= c.4957A= (p.Met1653=) c.4936A= (p.Met1646=) c.4843A= (p.Met1615=) c.3397A= (p.Met1133=) | |
| 8 | g.41933396C>A | CA371064561 | KAT6A | c.4824G>T (p.Gln1608His) c.4830G>T (p.Gln1610His) c.3505G>T c.4956G>T (p.Gln1652His) c.4935G>T (p.Gln1645His) c.4842G>T (p.Gln1614His) c.3396G>T (p.Gln1132His) | |
| 8 | g.41933396C>G | CA371064560 | KAT6A | c.4824G>C (p.Gln1608His) c.4830G>C (p.Gln1610His) c.3505G>C c.4956G>C (p.Gln1652His) c.4935G>C (p.Gln1645His) c.4842G>C (p.Gln1614His) c.3396G>C (p.Gln1132His) | |
| 8 | g.41933396C>T | CA460783700 | KAT6A | c.4824G>A (p.Gln1608=) c.4830G>A (p.Gln1610=) c.3505G>A c.4956G>A (p.Gln1652=) c.4935G>A (p.Gln1645=) c.4842G>A (p.Gln1614=) c.3396G>A (p.Gln1132=) | |
| 8 | g.41933397T>A | CA371064562 | KAT6A | c.4823A>T (p.Gln1608Leu) c.4829A>T (p.Gln1610Leu) c.3504A>T c.4955A>T (p.Gln1652Leu) c.4934A>T (p.Gln1645Leu) c.4841A>T (p.Gln1614Leu) c.3395A>T (p.Gln1132Leu) | |
| 8 | g.41933397T>C | CA371064564 | KAT6A | c.4823A>G (p.Gln1608Arg) c.4829A>G (p.Gln1610Arg) c.3504A>G c.4955A>G (p.Gln1652Arg) c.4934A>G (p.Gln1645Arg) c.4841A>G (p.Gln1614Arg) c.3395A>G (p.Gln1132Arg) | |
| 8 | g.41933397T>G | CA371064563 | KAT6A | c.4823A>C (p.Gln1608Pro) c.4829A>C (p.Gln1610Pro) c.3504A>C c.4955A>C (p.Gln1652Pro) c.4934A>C (p.Gln1645Pro) c.4841A>C (p.Gln1614Pro) c.3395A>C (p.Gln1132Pro) | |
| 8 | g.41933398G>A | CA371064565 | KAT6A | c.4822C>T (p.Gln1608Ter) c.4828C>T (p.Gln1610Ter) c.3503C>T c.4954C>T (p.Gln1652Ter) c.4933C>T (p.Gln1645Ter) c.4840C>T (p.Gln1614Ter) c.3394C>T (p.Gln1132Ter) | gnomAD v4 |
| 8 | g.41933398G>C | CA371064566 | KAT6A | c.4822C>G (p.Gln1608Glu) c.4828C>G (p.Gln1610Glu) c.3503C>G c.4954C>G (p.Gln1652Glu) c.4933C>G (p.Gln1645Glu) c.4840C>G (p.Gln1614Glu) c.3394C>G (p.Gln1132Glu) | |
| 8 | g.41933398G>T | CA371064567 | KAT6A | c.4822C>A (p.Gln1608Lys) c.4828C>A (p.Gln1610Lys) c.3503C>A c.4954C>A (p.Gln1652Lys) c.4933C>A (p.Gln1645Lys) c.4840C>A (p.Gln1614Lys) c.3394C>A (p.Gln1132Lys) | gnomAD v4 |
| 8 | g.41933399C>A | CA371064568 | KAT6A | c.4821G>T (p.Gln1607His) c.4827G>T (p.Gln1609His) c.3502G>T c.4953G>T (p.Gln1651His) c.4932G>T (p.Gln1644His) c.4839G>T (p.Gln1613His) c.3393G>T (p.Gln1131His) | gnomAD v4 |
| 8 | g.41933399C>G | CA371064569 | KAT6A | c.4821G>C (p.Gln1607His) c.4827G>C (p.Gln1609His) c.3502G>C c.4953G>C (p.Gln1651His) c.4932G>C (p.Gln1644His) c.4839G>C (p.Gln1613His) c.3393G>C (p.Gln1131His) | |
| 8 | g.41933399C>T | CA460783705 | KAT6A | c.4821G>A (p.Gln1607=) c.4827G>A (p.Gln1609=) c.3502G>A c.4953G>A (p.Gln1651=) c.4932G>A (p.Gln1644=) c.4839G>A (p.Gln1613=) c.3393G>A (p.Gln1131=) | |
| 8 | g.41933400T>A | CA371064570 | KAT6A | c.4820A>T (p.Gln1607Leu) c.4826A>T (p.Gln1609Leu) c.3501A>T c.4952A>T (p.Gln1651Leu) c.4931A>T (p.Gln1644Leu) c.4838A>T (p.Gln1613Leu) c.3392A>T (p.Gln1131Leu) | |
| 8 | g.41933400T>C | CA371064571 | KAT6A | c.4820A>G (p.Gln1607Arg) c.4826A>G (p.Gln1609Arg) c.3501A>G c.4952A>G (p.Gln1651Arg) c.4931A>G (p.Gln1644Arg) c.4838A>G (p.Gln1613Arg) c.3392A>G (p.Gln1131Arg) | gnomAD v4 |
| 8 | g.41933400T>G | CA371064572 | KAT6A | c.4820A>C (p.Gln1607Pro) c.4826A>C (p.Gln1609Pro) c.3501A>C c.4952A>C (p.Gln1651Pro) c.4931A>C (p.Gln1644Pro) c.4838A>C (p.Gln1613Pro) c.3392A>C (p.Gln1131Pro) | |
| 8 | g.41933401G>A | CA371064573 | KAT6A | c.4819C>T (p.Gln1607Ter) c.4825C>T (p.Gln1609Ter) c.3500C>T c.4951C>T (p.Gln1651Ter) c.4930C>T (p.Gln1644Ter) c.4837C>T (p.Gln1613Ter) c.3391C>T (p.Gln1131Ter) | ClinVar dbSNP |
| 8 | g.41933401G>C | CA371064574 | KAT6A | c.4819C>G (p.Gln1607Glu) c.4825C>G (p.Gln1609Glu) c.3500C>G c.4951C>G (p.Gln1651Glu) c.4930C>G (p.Gln1644Glu) c.4837C>G (p.Gln1613Glu) c.3391C>G (p.Gln1131Glu) | |
| 8 | g.41933401G= | CA1779195914 | KAT6A | c.4819C= (p.Gln1607=) c.4825C= (p.Gln1609=) c.3500C= c.4951C= (p.Gln1651=) c.4930C= (p.Gln1644=) c.4837C= (p.Gln1613=) c.3391C= (p.Gln1131=) | |
| 8 | g.41933401G>T | CA371064575 | KAT6A | c.4819C>A (p.Gln1607Lys) c.4825C>A (p.Gln1609Lys) c.3500C>A c.4951C>A (p.Gln1651Lys) c.4930C>A (p.Gln1644Lys) c.4837C>A (p.Gln1613Lys) c.3391C>A (p.Gln1131Lys) | gnomAD v4 |
| 8 | g.41933402A>C | CA460783712 | KAT6A | c.4818T>G (p.Thr1606=) c.4824T>G (p.Thr1608=) c.3499T>G c.4950T>G (p.Thr1650=) c.4929T>G (p.Thr1643=) c.4836T>G (p.Thr1612=) c.3390T>G (p.Thr1130=) | |
| 8 | g.41933402A>G | CA460783710 | KAT6A | c.4818T>C (p.Thr1606=) c.4824T>C (p.Thr1608=) c.3499T>C c.4950T>C (p.Thr1650=) c.4929T>C (p.Thr1643=) c.4836T>C (p.Thr1612=) c.3390T>C (p.Thr1130=) | |
| 8 | g.41933402A>T | CA460783711 | KAT6A | c.4818T>A (p.Thr1606=) c.4824T>A (p.Thr1608=) c.3499T>A c.4950T>A (p.Thr1650=) c.4929T>A (p.Thr1643=) c.4836T>A (p.Thr1612=) c.3390T>A (p.Thr1130=) | |
| 8 | g.41933403G>A | CA371064578 | KAT6A | c.4817C>T (p.Thr1606Ile) c.4823C>T (p.Thr1608Ile) c.3498C>T c.4949C>T (p.Thr1650Ile) c.4928C>T (p.Thr1643Ile) c.4835C>T (p.Thr1612Ile) c.3389C>T (p.Thr1130Ile) | |
| 8 | g.41933403G>C | CA371064577 | KAT6A | c.4817C>G (p.Thr1606Ser) c.4823C>G (p.Thr1608Ser) c.3498C>G c.4949C>G (p.Thr1650Ser) c.4928C>G (p.Thr1643Ser) c.4835C>G (p.Thr1612Ser) c.3389C>G (p.Thr1130Ser) | dbSNP gnomAD v4 |
| 8 | g.41933403G= | CA1779195915 | KAT6A | c.4817C= (p.Thr1606=) c.4823C= (p.Thr1608=) c.3498C= c.4949C= (p.Thr1650=) c.4928C= (p.Thr1643=) c.4835C= (p.Thr1612=) c.3389C= (p.Thr1130=) | |
| 8 | g.41933403G>T | CA371064576 | KAT6A | c.4817C>A (p.Thr1606Asn) c.4823C>A (p.Thr1608Asn) c.3498C>A c.4949C>A (p.Thr1650Asn) c.4928C>A (p.Thr1643Asn) c.4835C>A (p.Thr1612Asn) c.3389C>A (p.Thr1130Asn) | gnomAD v4 |
| 8 | g.41933404T>A | CA371064579 | KAT6A | c.4816A>T (p.Thr1606Ser) c.4822A>T (p.Thr1608Ser) c.3497A>T c.4948A>T (p.Thr1650Ser) c.4927A>T (p.Thr1643Ser) c.4834A>T (p.Thr1612Ser) c.3388A>T (p.Thr1130Ser) | |
| 8 | g.41933404T>C | CA371064580 | KAT6A | c.4816A>G (p.Thr1606Ala) c.4822A>G (p.Thr1608Ala) c.3497A>G c.4948A>G (p.Thr1650Ala) c.4927A>G (p.Thr1643Ala) c.4834A>G (p.Thr1612Ala) c.3388A>G (p.Thr1130Ala) | |
| 8 | g.41933404T>G | CA371064581 | KAT6A | c.4816A>C (p.Thr1606Pro) c.4822A>C (p.Thr1608Pro) c.3497A>C c.4948A>C (p.Thr1650Pro) c.4927A>C (p.Thr1643Pro) c.4834A>C (p.Thr1612Pro) c.3388A>C (p.Thr1130Pro) | |
| 8 | g.41933405G>A | CA4729420 | KAT6A | c.4815C>T (p.Val1605=) c.4821C>T (p.Val1607=) c.3496C>T c.4947C>T (p.Val1649=) c.4926C>T (p.Val1642=) c.4833C>T (p.Val1611=) c.3387C>T (p.Val1129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933405G>C | CA460783718 | KAT6A | c.4815C>G (p.Val1605=) c.4821C>G (p.Val1607=) c.3496C>G c.4947C>G (p.Val1649=) c.4926C>G (p.Val1642=) c.4833C>G (p.Val1611=) c.3387C>G (p.Val1129=) | |
| 8 | g.41933405G= | CA1779195916 | KAT6A | c.4815C= (p.Val1605=) c.4821C= (p.Val1607=) c.3496C= c.4947C= (p.Val1649=) c.4926C= (p.Val1642=) c.4833C= (p.Val1611=) c.3387C= (p.Val1129=) | |
| 8 | g.41933405G>T | CA460783717 | KAT6A | c.4815C>A (p.Val1605=) c.4821C>A (p.Val1607=) c.3496C>A c.4947C>A (p.Val1649=) c.4926C>A (p.Val1642=) c.4833C>A (p.Val1611=) c.3387C>A (p.Val1129=) | |
| 8 | g.41933406A>C | CA371064582 | KAT6A | c.4814T>G (p.Val1605Gly) c.4820T>G (p.Val1607Gly) c.3495T>G c.4946T>G (p.Val1649Gly) c.4925T>G (p.Val1642Gly) c.4832T>G (p.Val1611Gly) c.3386T>G (p.Val1129Gly) | |
| 8 | g.41933406A>G | CA371064583 | KAT6A | c.4814T>C (p.Val1605Ala) c.4820T>C (p.Val1607Ala) c.3495T>C c.4946T>C (p.Val1649Ala) c.4925T>C (p.Val1642Ala) c.4832T>C (p.Val1611Ala) c.3386T>C (p.Val1129Ala) | |
| 8 | g.41933406A>T | CA371064584 | KAT6A | c.4814T>A (p.Val1605Asp) c.4820T>A (p.Val1607Asp) c.3495T>A c.4946T>A (p.Val1649Asp) c.4925T>A (p.Val1642Asp) c.4832T>A (p.Val1611Asp) c.3386T>A (p.Val1129Asp) | |
| 8 | g.41933407C>A | CA371064585 | KAT6A | c.4813G>T (p.Val1605Phe) c.4819G>T (p.Val1607Phe) c.3494G>T c.4945G>T (p.Val1649Phe) c.4924G>T (p.Val1642Phe) c.4831G>T (p.Val1611Phe) c.3385G>T (p.Val1129Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933407C= | CA1779195917 | KAT6A | c.4813G= (p.Val1605=) c.4819G= (p.Val1607=) c.3494G= c.4945G= (p.Val1649=) c.4924G= (p.Val1642=) c.4831G= (p.Val1611=) c.3385G= (p.Val1129=) | |
| 8 | g.41933407C>G | CA371064586 | KAT6A | c.4813G>C (p.Val1605Leu) c.4819G>C (p.Val1607Leu) c.3494G>C c.4945G>C (p.Val1649Leu) c.4924G>C (p.Val1642Leu) c.4831G>C (p.Val1611Leu) c.3385G>C (p.Val1129Leu) | |
| 8 | g.41933407C>T | CA371064587 | KAT6A | c.4813G>A (p.Val1605Ile) c.4819G>A (p.Val1607Ile) c.3494G>A c.4945G>A (p.Val1649Ile) c.4924G>A (p.Val1642Ile) c.4831G>A (p.Val1611Ile) c.3385G>A (p.Val1129Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933408C>A | CA460783722 | KAT6A | c.4812G>T (p.Val1604=) c.4818G>T (p.Val1606=) c.3493G>T c.4944G>T (p.Val1648=) c.4923G>T (p.Val1641=) c.4830G>T (p.Val1610=) c.3384G>T (p.Val1128=) | |
| 8 | g.41933408C>G | CA460783723 | KAT6A | c.4812G>C (p.Val1604=) c.4818G>C (p.Val1606=) c.3493G>C c.4944G>C (p.Val1648=) c.4923G>C (p.Val1641=) c.4830G>C (p.Val1610=) c.3384G>C (p.Val1128=) | |
| 8 | g.41933408C>T | CA460783724 | KAT6A | c.4812G>A (p.Val1604=) c.4818G>A (p.Val1606=) c.3493G>A c.4944G>A (p.Val1648=) c.4923G>A (p.Val1641=) c.4830G>A (p.Val1610=) c.3384G>A (p.Val1128=) | |
| 8 | g.41933409A>C | CA371064588 | KAT6A | c.4811T>G (p.Val1604Gly) c.4817T>G (p.Val1606Gly) c.3492T>G c.4943T>G (p.Val1648Gly) c.4922T>G (p.Val1641Gly) c.4829T>G (p.Val1610Gly) c.3383T>G (p.Val1128Gly) | |
| 8 | g.41933409A>G | CA371064589 | KAT6A | c.4811T>C (p.Val1604Ala) c.4817T>C (p.Val1606Ala) c.3492T>C c.4943T>C (p.Val1648Ala) c.4922T>C (p.Val1641Ala) c.4829T>C (p.Val1610Ala) c.3383T>C (p.Val1128Ala) | |
| 8 | g.41933409A>T | CA371064590 | KAT6A | c.4811T>A (p.Val1604Glu) c.4817T>A (p.Val1606Glu) c.3492T>A c.4943T>A (p.Val1648Glu) c.4922T>A (p.Val1641Glu) c.4829T>A (p.Val1610Glu) c.3383T>A (p.Val1128Glu) | |
| 8 | g.41933410C>A | CA371064592 | KAT6A | c.4810G>T (p.Val1604Leu) c.4816G>T (p.Val1606Leu) c.3491G>T c.4942G>T (p.Val1648Leu) c.4921G>T (p.Val1641Leu) c.4828G>T (p.Val1610Leu) c.3382G>T (p.Val1128Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933410C= | CA1779195918 | KAT6A | c.4810G= (p.Val1604=) c.4816G= (p.Val1606=) c.3491G= c.4942G= (p.Val1648=) c.4921G= (p.Val1641=) c.4828G= (p.Val1610=) c.3382G= (p.Val1128=) | |
| 8 | g.41933410C>G | CA371064593 | KAT6A | c.4810G>C (p.Val1604Leu) c.4816G>C (p.Val1606Leu) c.3491G>C c.4942G>C (p.Val1648Leu) c.4921G>C (p.Val1641Leu) c.4828G>C (p.Val1610Leu) c.3382G>C (p.Val1128Leu) | |
| 8 | g.41933410C>T | CA371064591 | KAT6A | c.4810G>A (p.Val1604Met) c.4816G>A (p.Val1606Met) c.3491G>A c.4942G>A (p.Val1648Met) c.4921G>A (p.Val1641Met) c.4828G>A (p.Val1610Met) c.3382G>A (p.Val1128Met) | |
| 8 | g.41933411A>C | CA371064594 | KAT6A | c.4809T>G (p.Cys1603Trp) c.4815T>G (p.Cys1605Trp) c.3490T>G c.4941T>G (p.Cys1647Trp) c.4920T>G (p.Cys1640Trp) c.4827T>G (p.Cys1609Trp) c.3381T>G (p.Cys1127Trp) | |
| 8 | g.41933411A>G | CA460783726 | KAT6A | c.4809T>C (p.Cys1603=) c.4815T>C (p.Cys1605=) c.3490T>C c.4941T>C (p.Cys1647=) c.4920T>C (p.Cys1640=) c.4827T>C (p.Cys1609=) c.3381T>C (p.Cys1127=) | |
| 8 | g.41933411A>T | CA371064595 | KAT6A | c.4809T>A (p.Cys1603Ter) c.4815T>A (p.Cys1605Ter) c.3490T>A c.4941T>A (p.Cys1647Ter) c.4920T>A (p.Cys1640Ter) c.4827T>A (p.Cys1609Ter) c.3381T>A (p.Cys1127Ter) | |
| 8 | g.41933412C>A | CA371064596 | KAT6A | c.4808G>T (p.Cys1603Phe) c.4814G>T (p.Cys1605Phe) c.3489G>T c.4940G>T (p.Cys1647Phe) c.4919G>T (p.Cys1640Phe) c.4826G>T (p.Cys1609Phe) c.3380G>T (p.Cys1127Phe) | |
| 8 | g.41933412C= | CA1779195919 | KAT6A | c.4808G= (p.Cys1603=) c.4814G= (p.Cys1605=) c.3489G= c.4940G= (p.Cys1647=) c.4919G= (p.Cys1640=) c.4826G= (p.Cys1609=) c.3380G= (p.Cys1127=) | |
| 8 | g.41933412C>G | CA371064597 | KAT6A | c.4808G>C (p.Cys1603Ser) c.4814G>C (p.Cys1605Ser) c.3489G>C c.4940G>C (p.Cys1647Ser) c.4919G>C (p.Cys1640Ser) c.4826G>C (p.Cys1609Ser) c.3380G>C (p.Cys1127Ser) | |
| 8 | g.41933412C>T | CA4729421 | KAT6A | c.4808G>A (p.Cys1603Tyr) c.4814G>A (p.Cys1605Tyr) c.3489G>A c.4940G>A (p.Cys1647Tyr) c.4919G>A (p.Cys1640Tyr) c.4826G>A (p.Cys1609Tyr) c.3380G>A (p.Cys1127Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933413A>C | CA371064598 | KAT6A | c.4807T>G (p.Cys1603Gly) c.4813T>G (p.Cys1605Gly) c.3488T>G c.4939T>G (p.Cys1647Gly) c.4918T>G (p.Cys1640Gly) c.4825T>G (p.Cys1609Gly) c.3379T>G (p.Cys1127Gly) | |
| 8 | g.41933413A>G | CA371064599 | KAT6A | c.4807T>C (p.Cys1603Arg) c.4813T>C (p.Cys1605Arg) c.3488T>C c.4939T>C (p.Cys1647Arg) c.4918T>C (p.Cys1640Arg) c.4825T>C (p.Cys1609Arg) c.3379T>C (p.Cys1127Arg) | |
| 8 | g.41933413A>T | CA371064600 | KAT6A | c.4807T>A (p.Cys1603Ser) c.4813T>A (p.Cys1605Ser) c.3488T>A c.4939T>A (p.Cys1647Ser) c.4918T>A (p.Cys1640Ser) c.4825T>A (p.Cys1609Ser) c.3379T>A (p.Cys1127Ser) | |
| 8 | g.41933414G>A | CA460783732 | KAT6A | c.4806C>T (p.Ser1602=) c.4812C>T (p.Ser1604=) c.3487C>T c.4938C>T (p.Ser1646=) c.4917C>T (p.Ser1639=) c.4824C>T (p.Ser1608=) c.3378C>T (p.Ser1126=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933414G>C | CA371064601 | KAT6A | c.4806C>G (p.Ser1602Arg) c.4812C>G (p.Ser1604Arg) c.3487C>G c.4938C>G (p.Ser1646Arg) c.4917C>G (p.Ser1639Arg) c.4824C>G (p.Ser1608Arg) c.3378C>G (p.Ser1126Arg) | |
| 8 | g.41933414G= | CA1779195920 | KAT6A | c.4806C= (p.Ser1602=) c.4812C= (p.Ser1604=) c.3487C= c.4938C= (p.Ser1646=) c.4917C= (p.Ser1639=) c.4824C= (p.Ser1608=) c.3378C= (p.Ser1126=) | |
| 8 | g.41933414G>T | CA371064602 | KAT6A | c.4806C>A (p.Ser1602Arg) c.4812C>A (p.Ser1604Arg) c.3487C>A c.4938C>A (p.Ser1646Arg) c.4917C>A (p.Ser1639Arg) c.4824C>A (p.Ser1608Arg) c.3378C>A (p.Ser1126Arg) | |
| 8 | g.41933415C>A | CA371064603 | KAT6A | c.4805G>T (p.Ser1602Ile) c.4811G>T (p.Ser1604Ile) c.3486G>T c.4937G>T (p.Ser1646Ile) c.4916G>T (p.Ser1639Ile) c.4823G>T (p.Ser1608Ile) c.3377G>T (p.Ser1126Ile) | |
| 8 | g.41933415C>G | CA371064604 | KAT6A | c.4805G>C (p.Ser1602Thr) c.4811G>C (p.Ser1604Thr) c.3486G>C c.4937G>C (p.Ser1646Thr) c.4916G>C (p.Ser1639Thr) c.4823G>C (p.Ser1608Thr) c.3377G>C (p.Ser1126Thr) | |
| 8 | g.41933415C>T | CA371064605 | KAT6A | c.4805G>A (p.Ser1602Asn) c.4811G>A (p.Ser1604Asn) c.3486G>A c.4937G>A (p.Ser1646Asn) c.4916G>A (p.Ser1639Asn) c.4823G>A (p.Ser1608Asn) c.3377G>A (p.Ser1126Asn) | |
| 8 | g.41933416T>A | CA371064607 | KAT6A | c.4804A>T (p.Ser1602Cys) c.4810A>T (p.Ser1604Cys) c.3485A>T c.4936A>T (p.Ser1646Cys) c.4915A>T (p.Ser1639Cys) c.4822A>T (p.Ser1608Cys) c.3376A>T (p.Ser1126Cys) | |
| 8 | g.41933416T>C | CA4729422 | KAT6A | c.4804A>G (p.Ser1602Gly) c.4810A>G (p.Ser1604Gly) c.3485A>G c.4936A>G (p.Ser1646Gly) c.4915A>G (p.Ser1639Gly) c.4822A>G (p.Ser1608Gly) c.3376A>G (p.Ser1126Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933416T>G | CA371064606 | KAT6A | c.4804A>C (p.Ser1602Arg) c.4810A>C (p.Ser1604Arg) c.3485A>C c.4936A>C (p.Ser1646Arg) c.4915A>C (p.Ser1639Arg) c.4822A>C (p.Ser1608Arg) c.3376A>C (p.Ser1126Arg) | |
| 8 | g.41933416T= | CA1779195921 | KAT6A | c.4804A= (p.Ser1602=) c.4810A= (p.Ser1604=) c.3485A= c.4936A= (p.Ser1646=) c.4915A= (p.Ser1639=) c.4822A= (p.Ser1608=) c.3376A= (p.Ser1126=) | |
| 8 | g.41933417G>A | CA4729423 | KAT6A | c.4803C>T (p.Ser1601=) c.4809C>T (p.Ser1603=) c.3484C>T c.4935C>T (p.Ser1645=) c.4914C>T (p.Ser1638=) c.4821C>T (p.Ser1607=) c.3375C>T (p.Ser1125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933417G>C | CA371064608 | KAT6A | c.4803C>G (p.Ser1601Arg) c.4809C>G (p.Ser1603Arg) c.3484C>G c.4935C>G (p.Ser1645Arg) c.4914C>G (p.Ser1638Arg) c.4821C>G (p.Ser1607Arg) c.3375C>G (p.Ser1125Arg) | |
| 8 | g.41933417G= | CA1779195922 | KAT6A | c.4803C= (p.Ser1601=) c.4809C= (p.Ser1603=) c.3484C= c.4935C= (p.Ser1645=) c.4914C= (p.Ser1638=) c.4821C= (p.Ser1607=) c.3375C= (p.Ser1125=) | |
| 8 | g.41933417G>T | CA371064609 | KAT6A | c.4803C>A (p.Ser1601Arg) c.4809C>A (p.Ser1603Arg) c.3484C>A c.4935C>A (p.Ser1645Arg) c.4914C>A (p.Ser1638Arg) c.4821C>A (p.Ser1607Arg) c.3375C>A (p.Ser1125Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933418C>A | CA371064610 | KAT6A | c.4802G>T (p.Ser1601Ile) c.4808G>T (p.Ser1603Ile) c.3483G>T c.4934G>T (p.Ser1645Ile) c.4913G>T (p.Ser1638Ile) c.4820G>T (p.Ser1607Ile) c.3374G>T (p.Ser1125Ile) | |
| 8 | g.41933418C>G | CA371064611 | KAT6A | c.4802G>C (p.Ser1601Thr) c.4808G>C (p.Ser1603Thr) c.3483G>C c.4934G>C (p.Ser1645Thr) c.4913G>C (p.Ser1638Thr) c.4820G>C (p.Ser1607Thr) c.3374G>C (p.Ser1125Thr) | |
| 8 | g.41933418C>T | CA371064612 | KAT6A | c.4802G>A (p.Ser1601Asn) c.4808G>A (p.Ser1603Asn) c.3483G>A c.4934G>A (p.Ser1645Asn) c.4913G>A (p.Ser1638Asn) c.4820G>A (p.Ser1607Asn) c.3374G>A (p.Ser1125Asn) | |
| 8 | g.41933419T>A | CA371064613 | KAT6A | c.4801A>T (p.Ser1601Cys) c.4807A>T (p.Ser1603Cys) c.3482A>T c.4933A>T (p.Ser1645Cys) c.4912A>T (p.Ser1638Cys) c.4819A>T (p.Ser1607Cys) c.3373A>T (p.Ser1125Cys) | |
| 8 | g.41933419T>C | CA4729424 | KAT6A | c.4801A>G (p.Ser1601Gly) c.4807A>G (p.Ser1603Gly) c.3482A>G c.4933A>G (p.Ser1645Gly) c.4912A>G (p.Ser1638Gly) c.4819A>G (p.Ser1607Gly) c.3373A>G (p.Ser1125Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933419T>G | CA371064614 | KAT6A | c.4801A>C (p.Ser1601Arg) c.4807A>C (p.Ser1603Arg) c.3482A>C c.4933A>C (p.Ser1645Arg) c.4912A>C (p.Ser1638Arg) c.4819A>C (p.Ser1607Arg) c.3373A>C (p.Ser1125Arg) | |
| 8 | g.41933419T= | CA1779195923 | KAT6A | c.4801A= (p.Ser1601=) c.4807A= (p.Ser1603=) c.3482A= c.4933A= (p.Ser1645=) c.4912A= (p.Ser1638=) c.4819A= (p.Ser1607=) c.3373A= (p.Ser1125=) | |
| 8 | g.41933420C>A | CA371064615 | KAT6A | c.4800G>T (p.Gln1600His) c.4806G>T (p.Gln1602His) c.3481G>T c.4932G>T (p.Gln1644His) c.4911G>T (p.Gln1637His) c.4818G>T (p.Gln1606His) c.3372G>T (p.Gln1124His) | gnomAD v4 |
| 8 | g.41933420C>G | CA371064616 | KAT6A | c.4800G>C (p.Gln1600His) c.4806G>C (p.Gln1602His) c.3481G>C c.4932G>C (p.Gln1644His) c.4911G>C (p.Gln1637His) c.4818G>C (p.Gln1606His) c.3372G>C (p.Gln1124His) | |
| 8 | g.41933420C>T | CA460783739 | KAT6A | c.4800G>A (p.Gln1600=) c.4806G>A (p.Gln1602=) c.3481G>A c.4932G>A (p.Gln1644=) c.4911G>A (p.Gln1637=) c.4818G>A (p.Gln1606=) c.3372G>A (p.Gln1124=) | |
| 8 | g.41933421T>A | CA371064617 | KAT6A | c.4799A>T (p.Gln1600Leu) c.4805A>T (p.Gln1602Leu) c.3480A>T c.4931A>T (p.Gln1644Leu) c.4910A>T (p.Gln1637Leu) c.4817A>T (p.Gln1606Leu) c.3371A>T (p.Gln1124Leu) | |
| 8 | g.41933421T>C | CA371064618 | KAT6A | c.4799A>G (p.Gln1600Arg) c.4805A>G (p.Gln1602Arg) c.3480A>G c.4931A>G (p.Gln1644Arg) c.4910A>G (p.Gln1637Arg) c.4817A>G (p.Gln1606Arg) c.3371A>G (p.Gln1124Arg) | gnomAD v4 |
| 8 | g.41933421T>G | CA371064619 | KAT6A | c.4799A>C (p.Gln1600Pro) c.4805A>C (p.Gln1602Pro) c.3480A>C c.4931A>C (p.Gln1644Pro) c.4910A>C (p.Gln1637Pro) c.4817A>C (p.Gln1606Pro) c.3371A>C (p.Gln1124Pro) | |
| 8 | g.41933422G>A | CA371064621 | KAT6A | c.4798C>T (p.Gln1600Ter) c.4804C>T (p.Gln1602Ter) c.3479C>T c.4930C>T (p.Gln1644Ter) c.4909C>T (p.Gln1637Ter) c.4816C>T (p.Gln1606Ter) c.3370C>T (p.Gln1124Ter) | |
| 8 | g.41933422G>C | CA4729425 | KAT6A | c.4798C>G (p.Gln1600Glu) c.4804C>G (p.Gln1602Glu) c.3479C>G c.4930C>G (p.Gln1644Glu) c.4909C>G (p.Gln1637Glu) c.4816C>G (p.Gln1606Glu) c.3370C>G (p.Gln1124Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933422G= | CA1779195924 | KAT6A | c.4798C= (p.Gln1600=) c.4804C= (p.Gln1602=) c.3479C= c.4930C= (p.Gln1644=) c.4909C= (p.Gln1637=) c.4816C= (p.Gln1606=) c.3370C= (p.Gln1124=) | |
| 8 | g.41933422G>T | CA371064620 | KAT6A | c.4798C>A (p.Gln1600Lys) c.4804C>A (p.Gln1602Lys) c.3479C>A c.4930C>A (p.Gln1644Lys) c.4909C>A (p.Gln1637Lys) c.4816C>A (p.Gln1606Lys) c.3370C>A (p.Gln1124Lys) | |
| 8 | g.41933423G>A | CA460783746 | KAT6A | c.4797C>T (p.Thr1599=) c.4803C>T (p.Thr1601=) c.3478C>T c.4929C>T (p.Thr1643=) c.4908C>T (p.Thr1636=) c.4815C>T (p.Thr1605=) c.3369C>T (p.Thr1123=) | gnomAD v4 |
| 8 | g.41933423G>C | CA460783748 | KAT6A | c.4797C>G (p.Thr1599=) c.4803C>G (p.Thr1601=) c.3478C>G c.4929C>G (p.Thr1643=) c.4908C>G (p.Thr1636=) c.4815C>G (p.Thr1605=) c.3369C>G (p.Thr1123=) | |
| 8 | g.41933423G>T | CA460783747 | KAT6A | c.4797C>A (p.Thr1599=) c.4803C>A (p.Thr1601=) c.3478C>A c.4929C>A (p.Thr1643=) c.4908C>A (p.Thr1636=) c.4815C>A (p.Thr1605=) c.3369C>A (p.Thr1123=) | |
| 8 | g.41933424G>A | CA371064622 | KAT6A | c.4796C>T (p.Thr1599Ile) c.4802C>T (p.Thr1601Ile) c.3477C>T c.4928C>T (p.Thr1643Ile) c.4907C>T (p.Thr1636Ile) c.4814C>T (p.Thr1605Ile) c.3368C>T (p.Thr1123Ile) | |
| 8 | g.41933424G>C | CA371064623 | KAT6A | c.4796C>G (p.Thr1599Ser) c.4802C>G (p.Thr1601Ser) c.3477C>G c.4928C>G (p.Thr1643Ser) c.4907C>G (p.Thr1636Ser) c.4814C>G (p.Thr1605Ser) c.3368C>G (p.Thr1123Ser) | |
| 8 | g.41933424G>T | CA371064624 | KAT6A | c.4796C>A (p.Thr1599Asn) c.4802C>A (p.Thr1601Asn) c.3477C>A c.4928C>A (p.Thr1643Asn) c.4907C>A (p.Thr1636Asn) c.4814C>A (p.Thr1605Asn) c.3368C>A (p.Thr1123Asn) | gnomAD v4 |
| 8 | g.41933424_41933430delinsGTGAGGC | CA1779195925 | KAT6A | c.4790_4796delinsGCCTCAC (p.Ser1597=) c.4796_4802delinsGCCTCAC (p.Ser1599=) c.3471_3477delinsGCCTCAC c.4922_4928delinsGCCTCAC (p.Ser1641=) c.4901_4907delinsGCCTCAC (p.Ser1634=) c.4808_4814delinsGCCTCAC (p.Ser1603=) c.3362_3368delinsGCCTCAC (p.Ser1121=) | |
| 8 | g.41933425T>A | CA4729427 | KAT6A | c.4795A>T (p.Thr1599Ser) c.4801A>T (p.Thr1601Ser) c.3476A>T c.4927A>T (p.Thr1643Ser) c.4906A>T (p.Thr1636Ser) c.4813A>T (p.Thr1605Ser) c.3367A>T (p.Thr1123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933425T>C | CA371064625 | KAT6A | c.4795A>G (p.Thr1599Ala) c.4801A>G (p.Thr1601Ala) c.3476A>G c.4927A>G (p.Thr1643Ala) c.4906A>G (p.Thr1636Ala) c.4813A>G (p.Thr1605Ala) c.3367A>G (p.Thr1123Ala) | |
| 8 | g.41933425T>G | CA371064626 | KAT6A | c.4795A>C (p.Thr1599Pro) c.4801A>C (p.Thr1601Pro) c.3476A>C c.4927A>C (p.Thr1643Pro) c.4906A>C (p.Thr1636Pro) c.4813A>C (p.Thr1605Pro) c.3367A>C (p.Thr1123Pro) | |
| 8 | g.41933425T= | CA1779195926 | KAT6A | c.4795A= (p.Thr1599=) c.4801A= (p.Thr1601=) c.3476A= c.4927A= (p.Thr1643=) c.4906A= (p.Thr1636=) c.4813A= (p.Thr1605=) c.3367A= (p.Thr1123=) | |
| 8 | g.41933427_41933432del | CA4729426 | KAT6A | c.4790_4795del (p.Ser1597_Leu1598del) c.4796_4801del (p.Ser1599_Leu1600del) c.3471_3476del c.4922_4927del (p.Ser1641_Leu1642del) c.4901_4906del (p.Ser1634_Leu1635del) c.4808_4813del (p.Ser1603_Leu1604del) c.3362_3367del (p.Ser1121_Leu1122del) | dbSNP ExAC gnomAD v4 |
| 8 | g.41933426G>A | CA460783756 | KAT6A | c.4794C>T (p.Leu1598=) c.4800C>T (p.Leu1600=) c.3475C>T c.4926C>T (p.Leu1642=) c.4905C>T (p.Leu1635=) c.4812C>T (p.Leu1604=) c.3366C>T (p.Leu1122=) | gnomAD v4 |
| 8 | g.41933426G>C | CA460783754 | KAT6A | c.4794C>G (p.Leu1598=) c.4800C>G (p.Leu1600=) c.3475C>G c.4926C>G (p.Leu1642=) c.4905C>G (p.Leu1635=) c.4812C>G (p.Leu1604=) c.3366C>G (p.Leu1122=) | |
| 8 | g.41933426G>T | CA460783755 | KAT6A | c.4794C>A (p.Leu1598=) c.4800C>A (p.Leu1600=) c.3475C>A c.4926C>A (p.Leu1642=) c.4905C>A (p.Leu1635=) c.4812C>A (p.Leu1604=) c.3366C>A (p.Leu1122=) | |
| 8 | g.41933427A>C | CA371064629 | KAT6A | c.4793T>G (p.Leu1598Arg) c.4799T>G (p.Leu1600Arg) c.3474T>G c.4925T>G (p.Leu1642Arg) c.4904T>G (p.Leu1635Arg) c.4811T>G (p.Leu1604Arg) c.3365T>G (p.Leu1122Arg) | gnomAD v4 |
| 8 | g.41933427A>G | CA371064627 | KAT6A | c.4793T>C (p.Leu1598Pro) c.4799T>C (p.Leu1600Pro) c.3474T>C c.4925T>C (p.Leu1642Pro) c.4904T>C (p.Leu1635Pro) c.4811T>C (p.Leu1604Pro) c.3365T>C (p.Leu1122Pro) | gnomAD v4 |
| 8 | g.41933427A>T | CA371064628 | KAT6A | c.4793T>A (p.Leu1598His) c.4799T>A (p.Leu1600His) c.3474T>A c.4925T>A (p.Leu1642His) c.4904T>A (p.Leu1635His) c.4811T>A (p.Leu1604His) c.3365T>A (p.Leu1122His) | |
| 8 | g.41933428G>A | CA371064630 | KAT6A | c.4792C>T (p.Leu1598Phe) c.4798C>T (p.Leu1600Phe) c.3473C>T c.4924C>T (p.Leu1642Phe) c.4903C>T (p.Leu1635Phe) c.4810C>T (p.Leu1604Phe) c.3364C>T (p.Leu1122Phe) | |
| 8 | g.41933428G>C | CA371064631 | KAT6A | c.4792C>G (p.Leu1598Val) c.4798C>G (p.Leu1600Val) c.3473C>G c.4924C>G (p.Leu1642Val) c.4903C>G (p.Leu1635Val) c.4810C>G (p.Leu1604Val) c.3364C>G (p.Leu1122Val) | |
| 8 | g.41933428G= | CA1779195927 | KAT6A | c.4792C= (p.Leu1598=) c.4798C= (p.Leu1600=) c.3473C= c.4924C= (p.Leu1642=) c.4903C= (p.Leu1635=) c.4810C= (p.Leu1604=) c.3364C= (p.Leu1122=) | |
| 8 | g.41933428G>T | CA371064632 | KAT6A | c.4792C>A (p.Leu1598Ile) c.4798C>A (p.Leu1600Ile) c.3473C>A c.4924C>A (p.Leu1642Ile) c.4903C>A (p.Leu1635Ile) c.4810C>A (p.Leu1604Ile) c.3364C>A (p.Leu1122Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933429G>A | CA460783761 | KAT6A | c.4791C>T (p.Ser1597=) c.4797C>T (p.Ser1599=) c.3472C>T c.4923C>T (p.Ser1641=) c.4902C>T (p.Ser1634=) c.4809C>T (p.Ser1603=) c.3363C>T (p.Ser1121=) | |
| 8 | g.41933429G>C | CA371064633 | KAT6A | c.4791C>G (p.Ser1597Arg) c.4797C>G (p.Ser1599Arg) c.3472C>G c.4923C>G (p.Ser1641Arg) c.4902C>G (p.Ser1634Arg) c.4809C>G (p.Ser1603Arg) c.3363C>G (p.Ser1121Arg) | |
| 8 | g.41933429G>T | CA371064634 | KAT6A | c.4791C>A (p.Ser1597Arg) c.4797C>A (p.Ser1599Arg) c.3472C>A c.4923C>A (p.Ser1641Arg) c.4902C>A (p.Ser1634Arg) c.4809C>A (p.Ser1603Arg) c.3363C>A (p.Ser1121Arg) | |
| 8 | g.41933430C>A | CA371064635 | KAT6A | c.4790G>T (p.Ser1597Ile) c.4796G>T (p.Ser1599Ile) c.3471G>T c.4922G>T (p.Ser1641Ile) c.4901G>T (p.Ser1634Ile) c.4808G>T (p.Ser1603Ile) c.3362G>T (p.Ser1121Ile) | |
| 8 | g.41933430C>G | CA371064637 | KAT6A | c.4790G>C (p.Ser1597Thr) c.4796G>C (p.Ser1599Thr) c.3471G>C c.4922G>C (p.Ser1641Thr) c.4901G>C (p.Ser1634Thr) c.4808G>C (p.Ser1603Thr) c.3362G>C (p.Ser1121Thr) | gnomAD v4 |
| 8 | g.41933430C>T | CA371064636 | KAT6A | c.4790G>A (p.Ser1597Asn) c.4796G>A (p.Ser1599Asn) c.3471G>A c.4922G>A (p.Ser1641Asn) c.4901G>A (p.Ser1634Asn) c.4808G>A (p.Ser1603Asn) c.3362G>A (p.Ser1121Asn) | COSMIC |
| 8 | g.41933431T>A | CA4729428 | KAT6A | c.4789A>T (p.Ser1597Cys) c.4795A>T (p.Ser1599Cys) c.3470A>T c.4921A>T (p.Ser1641Cys) c.4900A>T (p.Ser1634Cys) c.4807A>T (p.Ser1603Cys) c.3361A>T (p.Ser1121Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933431T>C | CA371064638 | KAT6A | c.4789A>G (p.Ser1597Gly) c.4795A>G (p.Ser1599Gly) c.3470A>G c.4921A>G (p.Ser1641Gly) c.4900A>G (p.Ser1634Gly) c.4807A>G (p.Ser1603Gly) c.3361A>G (p.Ser1121Gly) | |
| 8 | g.41933431T>G | CA371064639 | KAT6A | c.4789A>C (p.Ser1597Arg) c.4795A>C (p.Ser1599Arg) c.3470A>C c.4921A>C (p.Ser1641Arg) c.4900A>C (p.Ser1634Arg) c.4807A>C (p.Ser1603Arg) c.3361A>C (p.Ser1121Arg) | |
| 8 | g.41933431T= | CA1779195928 | KAT6A | c.4789A= (p.Ser1597=) c.4795A= (p.Ser1599=) c.3470A= c.4921A= (p.Ser1641=) c.4900A= (p.Ser1634=) c.4807A= (p.Ser1603=) c.3361A= (p.Ser1121=) | |
| 8 | g.41933432G>A | CA460783763 | KAT6A | c.4788C>T (p.Ser1596=) c.4794C>T (p.Ser1598=) c.3469C>T c.4920C>T (p.Ser1640=) c.4899C>T (p.Ser1633=) c.4806C>T (p.Ser1602=) c.3360C>T (p.Ser1120=) | dbSNP gnomAD v4 |
| 8 | g.41933432G>C | CA371064640 | KAT6A | c.4788C>G (p.Ser1596Arg) c.4794C>G (p.Ser1598Arg) c.3469C>G c.4920C>G (p.Ser1640Arg) c.4899C>G (p.Ser1633Arg) c.4806C>G (p.Ser1602Arg) c.3360C>G (p.Ser1120Arg) | |
| 8 | g.41933432G= | CA1779195929 | KAT6A | c.4788C= (p.Ser1596=) c.4794C= (p.Ser1598=) c.3469C= c.4920C= (p.Ser1640=) c.4899C= (p.Ser1633=) c.4806C= (p.Ser1602=) c.3360C= (p.Ser1120=) | |
| 8 | g.41933432G>T | CA371064641 | KAT6A | c.4788C>A (p.Ser1596Arg) c.4794C>A (p.Ser1598Arg) c.3469C>A c.4920C>A (p.Ser1640Arg) c.4899C>A (p.Ser1633Arg) c.4806C>A (p.Ser1602Arg) c.3360C>A (p.Ser1120Arg) | gnomAD v4 |
| 8 | g.41933433C>A | CA371064642 | KAT6A | c.4787G>T (p.Ser1596Ile) c.4793G>T (p.Ser1598Ile) c.3468G>T c.4919G>T (p.Ser1640Ile) c.4898G>T (p.Ser1633Ile) c.4805G>T (p.Ser1602Ile) c.3359G>T (p.Ser1120Ile) | |
| 8 | g.41933433C= | CA1779195930 | KAT6A | c.4787G= (p.Ser1596=) c.4793G= (p.Ser1598=) c.3468G= c.4919G= (p.Ser1640=) c.4898G= (p.Ser1633=) c.4805G= (p.Ser1602=) c.3359G= (p.Ser1120=) | |
| 8 | g.41933433C>G | CA371064643 | KAT6A | c.4787G>C (p.Ser1596Thr) c.4793G>C (p.Ser1598Thr) c.3468G>C c.4919G>C (p.Ser1640Thr) c.4898G>C (p.Ser1633Thr) c.4805G>C (p.Ser1602Thr) c.3359G>C (p.Ser1120Thr) | dbSNP |
| 8 | g.41933433C>T | CA371064644 | KAT6A | c.4787G>A (p.Ser1596Asn) c.4793G>A (p.Ser1598Asn) c.3468G>A c.4919G>A (p.Ser1640Asn) c.4898G>A (p.Ser1633Asn) c.4805G>A (p.Ser1602Asn) c.3359G>A (p.Ser1120Asn) | |
| 8 | g.41933434T>A | CA371064645 | KAT6A | c.4786A>T (p.Ser1596Cys) c.4792A>T (p.Ser1598Cys) c.3467A>T c.4918A>T (p.Ser1640Cys) c.4897A>T (p.Ser1633Cys) c.4804A>T (p.Ser1602Cys) c.3358A>T (p.Ser1120Cys) | |
| 8 | g.41933434T>C | CA371064646 | KAT6A | c.4786A>G (p.Ser1596Gly) c.4792A>G (p.Ser1598Gly) c.3467A>G c.4918A>G (p.Ser1640Gly) c.4897A>G (p.Ser1633Gly) c.4804A>G (p.Ser1602Gly) c.3358A>G (p.Ser1120Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933434T>G | CA371064647 | KAT6A | c.4786A>C (p.Ser1596Arg) c.4792A>C (p.Ser1598Arg) c.3467A>C c.4918A>C (p.Ser1640Arg) c.4897A>C (p.Ser1633Arg) c.4804A>C (p.Ser1602Arg) c.3358A>C (p.Ser1120Arg) | |
| 8 | g.41933434T= | CA1779195931 | KAT6A | c.4786A= (p.Ser1596=) c.4792A= (p.Ser1598=) c.3467A= c.4918A= (p.Ser1640=) c.4897A= (p.Ser1633=) c.4804A= (p.Ser1602=) c.3358A= (p.Ser1120=) | |
| 8 | g.41933435G>A | CA460783768 | KAT6A | c.4785C>T (p.Ser1595=) c.4791C>T (p.Ser1597=) c.3466C>T c.4917C>T (p.Ser1639=) c.4896C>T (p.Ser1632=) c.4803C>T (p.Ser1601=) c.3357C>T (p.Ser1119=) | |
| 8 | g.41933435G>C | CA460783769 | KAT6A | c.4785C>G (p.Ser1595=) c.4791C>G (p.Ser1597=) c.3466C>G c.4917C>G (p.Ser1639=) c.4896C>G (p.Ser1632=) c.4803C>G (p.Ser1601=) c.3357C>G (p.Ser1119=) | |
| 8 | g.41933435G>T | CA460783770 | KAT6A | c.4785C>A (p.Ser1595=) c.4791C>A (p.Ser1597=) c.3466C>A c.4917C>A (p.Ser1639=) c.4896C>A (p.Ser1632=) c.4803C>A (p.Ser1601=) c.3357C>A (p.Ser1119=) | |
| 8 | g.41933436G>A | CA371064648 | KAT6A | c.4784C>T (p.Ser1595Phe) c.4790C>T (p.Ser1597Phe) c.3465C>T c.4916C>T (p.Ser1639Phe) c.4895C>T (p.Ser1632Phe) c.4802C>T (p.Ser1601Phe) c.3356C>T (p.Ser1119Phe) | |
| 8 | g.41933436G>C | CA371064650 | KAT6A | c.4784C>G (p.Ser1595Cys) c.4790C>G (p.Ser1597Cys) c.3465C>G c.4916C>G (p.Ser1639Cys) c.4895C>G (p.Ser1632Cys) c.4802C>G (p.Ser1601Cys) c.3356C>G (p.Ser1119Cys) | |
| 8 | g.41933436G>T | CA371064649 | KAT6A | c.4784C>A (p.Ser1595Tyr) c.4790C>A (p.Ser1597Tyr) c.3465C>A c.4916C>A (p.Ser1639Tyr) c.4895C>A (p.Ser1632Tyr) c.4802C>A (p.Ser1601Tyr) c.3356C>A (p.Ser1119Tyr) | |
| 8 | g.41933437A= | CA1779195932 | KAT6A | c.4783T= (p.Ser1595=) c.4789T= (p.Ser1597=) c.3464T= c.4915T= (p.Ser1639=) c.4894T= (p.Ser1632=) c.4801T= (p.Ser1601=) c.3355T= (p.Ser1119=) | |
| 8 | g.41933437A>C | CA371064651 | KAT6A | c.4783T>G (p.Ser1595Ala) c.4789T>G (p.Ser1597Ala) c.3464T>G c.4915T>G (p.Ser1639Ala) c.4894T>G (p.Ser1632Ala) c.4801T>G (p.Ser1601Ala) c.3355T>G (p.Ser1119Ala) | |
| 8 | g.41933437A>G | CA371064653 | KAT6A | c.4783T>C (p.Ser1595Pro) c.4789T>C (p.Ser1597Pro) c.3464T>C c.4915T>C (p.Ser1639Pro) c.4894T>C (p.Ser1632Pro) c.4801T>C (p.Ser1601Pro) c.3355T>C (p.Ser1119Pro) | dbSNP |
| 8 | g.41933437A>T | CA371064652 | KAT6A | c.4783T>A (p.Ser1595Thr) c.4789T>A (p.Ser1597Thr) c.3464T>A c.4915T>A (p.Ser1639Thr) c.4894T>A (p.Ser1632Thr) c.4801T>A (p.Ser1601Thr) c.3355T>A (p.Ser1119Thr) | |
| 8 | g.41933438G>A | CA460783772 | KAT6A | c.4782C>T (p.Ser1594=) c.4788C>T (p.Ser1596=) c.3463C>T c.4914C>T (p.Ser1638=) c.4893C>T (p.Ser1631=) c.4800C>T (p.Ser1600=) c.3354C>T (p.Ser1118=) | gnomAD v4 |
| 8 | g.41933438G>C | CA460783773 | KAT6A | c.4782C>G (p.Ser1594=) c.4788C>G (p.Ser1596=) c.3463C>G c.4914C>G (p.Ser1638=) c.4893C>G (p.Ser1631=) c.4800C>G (p.Ser1600=) c.3354C>G (p.Ser1118=) | |
| 8 | g.41933438G>T | CA460783774 | KAT6A | c.4782C>A (p.Ser1594=) c.4788C>A (p.Ser1596=) c.3463C>A c.4914C>A (p.Ser1638=) c.4893C>A (p.Ser1631=) c.4800C>A (p.Ser1600=) c.3354C>A (p.Ser1118=) | |
| 8 | g.41933438_41933441delinsGGAC | CA1779195933 | KAT6A | c.4779_4782delinsGTCC (p.Ser1593=) c.4785_4788delinsGTCC (p.Ser1595=) c.3460_3463delinsGTCC c.4911_4914delinsGTCC (p.Ser1637=) c.4890_4893delinsGTCC (p.Ser1630=) c.4797_4800delinsGTCC (p.Ser1599=) c.3351_3354delinsGTCC (p.Ser1117=) | |
| 8 | g.41933439G>A | CA371064654 | KAT6A | c.4781C>T (p.Ser1594Phe) c.4787C>T (p.Ser1596Phe) c.3462C>T c.4913C>T (p.Ser1638Phe) c.4892C>T (p.Ser1631Phe) c.4799C>T (p.Ser1600Phe) c.3353C>T (p.Ser1118Phe) | |
| 8 | g.41933439G>C | CA371064655 | KAT6A | c.4781C>G (p.Ser1594Cys) c.4787C>G (p.Ser1596Cys) c.3462C>G c.4913C>G (p.Ser1638Cys) c.4892C>G (p.Ser1631Cys) c.4799C>G (p.Ser1600Cys) c.3353C>G (p.Ser1118Cys) | |
| 8 | g.41933439G>T | CA371064656 | KAT6A | c.4781C>A (p.Ser1594Tyr) c.4787C>A (p.Ser1596Tyr) c.3462C>A c.4913C>A (p.Ser1638Tyr) c.4892C>A (p.Ser1631Tyr) c.4799C>A (p.Ser1600Tyr) c.3353C>A (p.Ser1118Tyr) | |
| 8 | g.41933442_41933444del | CA4729429 | KAT6A | c.4779_4781del (p.Ser1594del) c.4785_4787del (p.Ser1596del) c.3460_3462del c.4911_4913del (p.Ser1638del) c.4890_4892del (p.Ser1631del) c.4797_4799del (p.Ser1600del) c.3351_3353del (p.Ser1118del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933440A= | CA1779195934 | KAT6A | c.4780T= (p.Ser1594=) c.4786T= (p.Ser1596=) c.3461T= c.4912T= (p.Ser1638=) c.4891T= (p.Ser1631=) c.4798T= (p.Ser1600=) c.3352T= (p.Ser1118=) | |
| 8 | g.41933440A>C | CA371064657 | KAT6A | c.4780T>G (p.Ser1594Ala) c.4786T>G (p.Ser1596Ala) c.3461T>G c.4912T>G (p.Ser1638Ala) c.4891T>G (p.Ser1631Ala) c.4798T>G (p.Ser1600Ala) c.3352T>G (p.Ser1118Ala) | |
| 8 | g.41933440A>G | CA371064658 | KAT6A | c.4780T>C (p.Ser1594Pro) c.4786T>C (p.Ser1596Pro) c.3461T>C c.4912T>C (p.Ser1638Pro) c.4891T>C (p.Ser1631Pro) c.4798T>C (p.Ser1600Pro) c.3352T>C (p.Ser1118Pro) | dbSNP |
| 8 | g.41933440A>T | CA371064659 | KAT6A | c.4780T>A (p.Ser1594Thr) c.4786T>A (p.Ser1596Thr) c.3461T>A c.4912T>A (p.Ser1638Thr) c.4891T>A (p.Ser1631Thr) c.4798T>A (p.Ser1600Thr) c.3352T>A (p.Ser1118Thr) | |
| 8 | g.41933441C>A | CA460783776 | KAT6A | c.4779G>T (p.Ser1593=) c.4785G>T (p.Ser1595=) c.3460G>T c.4911G>T (p.Ser1637=) c.4890G>T (p.Ser1630=) c.4797G>T (p.Ser1599=) c.3351G>T (p.Ser1117=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933441C= | CA1779195935 | KAT6A | c.4779G= (p.Ser1593=) c.4785G= (p.Ser1595=) c.3460G= c.4911G= (p.Ser1637=) c.4890G= (p.Ser1630=) c.4797G= (p.Ser1599=) c.3351G= (p.Ser1117=) | |
| 8 | g.41933441C>G | CA460783775 | KAT6A | c.4779G>C (p.Ser1593=) c.4785G>C (p.Ser1595=) c.3460G>C c.4911G>C (p.Ser1637=) c.4890G>C (p.Ser1630=) c.4797G>C (p.Ser1599=) c.3351G>C (p.Ser1117=) | |
| 8 | g.41933441C>T | CA4729430 | KAT6A | c.4779G>A (p.Ser1593=) c.4785G>A (p.Ser1595=) c.3460G>A c.4911G>A (p.Ser1637=) c.4890G>A (p.Ser1630=) c.4797G>A (p.Ser1599=) c.3351G>A (p.Ser1117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933442G>A | CA371064660 | KAT6A | c.4778C>T (p.Ser1593Leu) c.4784C>T (p.Ser1595Leu) c.3459C>T c.4910C>T (p.Ser1637Leu) c.4889C>T (p.Ser1630Leu) c.4796C>T (p.Ser1599Leu) c.3350C>T (p.Ser1117Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933442G>C | CA371064661 | KAT6A | c.4778C>G (p.Ser1593Trp) c.4784C>G (p.Ser1595Trp) c.3459C>G c.4910C>G (p.Ser1637Trp) c.4889C>G (p.Ser1630Trp) c.4796C>G (p.Ser1599Trp) c.3350C>G (p.Ser1117Trp) | |
| 8 | g.41933442G= | CA1779195936 | KAT6A | c.4778C= (p.Ser1593=) c.4784C= (p.Ser1595=) c.3459C= c.4910C= (p.Ser1637=) c.4889C= (p.Ser1630=) c.4796C= (p.Ser1599=) c.3350C= (p.Ser1117=) | |
| 8 | g.41933442G>T | CA371064662 | KAT6A | c.4778C>A (p.Ser1593Ter) c.4784C>A (p.Ser1595Ter) c.3459C>A c.4910C>A (p.Ser1637Ter) c.4889C>A (p.Ser1630Ter) c.4796C>A (p.Ser1599Ter) c.3350C>A (p.Ser1117Ter) | |
| 8 | g.41933443A>C | CA371064665 | KAT6A | c.4777T>G (p.Ser1593Ala) c.4783T>G (p.Ser1595Ala) c.3458T>G c.4909T>G (p.Ser1637Ala) c.4888T>G (p.Ser1630Ala) c.4795T>G (p.Ser1599Ala) c.3349T>G (p.Ser1117Ala) | |
| 8 | g.41933443A>G | CA371064664 | KAT6A | c.4777T>C (p.Ser1593Pro) c.4783T>C (p.Ser1595Pro) c.3458T>C c.4909T>C (p.Ser1637Pro) c.4888T>C (p.Ser1630Pro) c.4795T>C (p.Ser1599Pro) c.3349T>C (p.Ser1117Pro) | gnomAD v4 |
| 8 | g.41933443A>T | CA371064663 | KAT6A | c.4777T>A (p.Ser1593Thr) c.4783T>A (p.Ser1595Thr) c.3458T>A c.4909T>A (p.Ser1637Thr) c.4888T>A (p.Ser1630Thr) c.4795T>A (p.Ser1599Thr) c.3349T>A (p.Ser1117Thr) | |
| 8 | g.41933444C>A | CA460783777 | KAT6A | c.4776G>T (p.Leu1592=) c.4782G>T (p.Leu1594=) c.3457G>T c.4908G>T (p.Leu1636=) c.4887G>T (p.Leu1629=) c.4794G>T (p.Leu1598=) c.3348G>T (p.Leu1116=) | |
| 8 | g.41933444C>G | CA460783778 | KAT6A | c.4776G>C (p.Leu1592=) c.4782G>C (p.Leu1594=) c.3457G>C c.4908G>C (p.Leu1636=) c.4887G>C (p.Leu1629=) c.4794G>C (p.Leu1598=) c.3348G>C (p.Leu1116=) | |
| 8 | g.41933444C>T | CA460783779 | KAT6A | c.4776G>A (p.Leu1592=) c.4782G>A (p.Leu1594=) c.3457G>A c.4908G>A (p.Leu1636=) c.4887G>A (p.Leu1629=) c.4794G>A (p.Leu1598=) c.3348G>A (p.Leu1116=) | gnomAD v4 |
| 8 | g.41933445A>C | CA371064666 | KAT6A | c.4775T>G (p.Leu1592Arg) c.4781T>G (p.Leu1594Arg) c.3456T>G c.4907T>G (p.Leu1636Arg) c.4886T>G (p.Leu1629Arg) c.4793T>G (p.Leu1598Arg) c.3347T>G (p.Leu1116Arg) | gnomAD v4 |
| 8 | g.41933445A>G | CA371064667 | KAT6A | c.4775T>C (p.Leu1592Pro) c.4781T>C (p.Leu1594Pro) c.3456T>C c.4907T>C (p.Leu1636Pro) c.4886T>C (p.Leu1629Pro) c.4793T>C (p.Leu1598Pro) c.3347T>C (p.Leu1116Pro) | |
| 8 | g.41933445A>T | CA371064668 | KAT6A | c.4775T>A (p.Leu1592Gln) c.4781T>A (p.Leu1594Gln) c.3456T>A c.4907T>A (p.Leu1636Gln) c.4886T>A (p.Leu1629Gln) c.4793T>A (p.Leu1598Gln) c.3347T>A (p.Leu1116Gln) | ClinVar |
| 8 | g.41933446G>A | CA460783782 | KAT6A | c.4774C>T (p.Leu1592=) c.4780C>T (p.Leu1594=) c.3455C>T c.4906C>T (p.Leu1636=) c.4885C>T (p.Leu1629=) c.4792C>T (p.Leu1598=) c.3346C>T (p.Leu1116=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933446G>C | CA371064669 | KAT6A | c.4774C>G (p.Leu1592Val) c.4780C>G (p.Leu1594Val) c.3455C>G c.4906C>G (p.Leu1636Val) c.4885C>G (p.Leu1629Val) c.4792C>G (p.Leu1598Val) c.3346C>G (p.Leu1116Val) | |
| 8 | g.41933446G= | CA1779195937 | KAT6A | c.4774C= (p.Leu1592=) c.4780C= (p.Leu1594=) c.3455C= c.4906C= (p.Leu1636=) c.4885C= (p.Leu1629=) c.4792C= (p.Leu1598=) c.3346C= (p.Leu1116=) | |
| 8 | g.41933446G>T | CA371064670 | KAT6A | c.4774C>A (p.Leu1592Met) c.4780C>A (p.Leu1594Met) c.3455C>A c.4906C>A (p.Leu1636Met) c.4885C>A (p.Leu1629Met) c.4792C>A (p.Leu1598Met) c.3346C>A (p.Leu1116Met) | |
| 8 | g.41933447C>A | CA460783783 | KAT6A | c.4773G>T (p.Gly1591=) c.4779G>T (p.Gly1593=) c.3454G>T c.4905G>T (p.Gly1635=) c.4884G>T (p.Gly1628=) c.4791G>T (p.Gly1597=) c.3345G>T (p.Gly1115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933447C= | CA1779195938 | KAT6A | c.4773G= (p.Gly1591=) c.4779G= (p.Gly1593=) c.3454G= c.4905G= (p.Gly1635=) c.4884G= (p.Gly1628=) c.4791G= (p.Gly1597=) c.3345G= (p.Gly1115=) | |
| 8 | g.41933447C>G | CA460783785 | KAT6A | c.4773G>C (p.Gly1591=) c.4779G>C (p.Gly1593=) c.3454G>C c.4905G>C (p.Gly1635=) c.4884G>C (p.Gly1628=) c.4791G>C (p.Gly1597=) c.3345G>C (p.Gly1115=) | |
| 8 | g.41933447C>T | CA460783784 | KAT6A | c.4773G>A (p.Gly1591=) c.4779G>A (p.Gly1593=) c.3454G>A c.4905G>A (p.Gly1635=) c.4884G>A (p.Gly1628=) c.4791G>A (p.Gly1597=) c.3345G>A (p.Gly1115=) | |
| 8 | g.41933448C>A | CA371064671 | KAT6A | c.4772G>T (p.Gly1591Val) c.4778G>T (p.Gly1593Val) c.3453G>T c.4904G>T (p.Gly1635Val) c.4883G>T (p.Gly1628Val) c.4790G>T (p.Gly1597Val) c.3344G>T (p.Gly1115Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933448C= | CA1779195939 | KAT6A | c.4772G= (p.Gly1591=) c.4778G= (p.Gly1593=) c.3453G= c.4904G= (p.Gly1635=) c.4883G= (p.Gly1628=) c.4790G= (p.Gly1597=) c.3344G= (p.Gly1115=) | |
| 8 | g.41933448C>G | CA371064672 | KAT6A | c.4772G>C (p.Gly1591Ala) c.4778G>C (p.Gly1593Ala) c.3453G>C c.4904G>C (p.Gly1635Ala) c.4883G>C (p.Gly1628Ala) c.4790G>C (p.Gly1597Ala) c.3344G>C (p.Gly1115Ala) | |
| 8 | g.41933448C>T | CA371064673 | KAT6A | c.4772G>A (p.Gly1591Glu) c.4778G>A (p.Gly1593Glu) c.3453G>A c.4904G>A (p.Gly1635Glu) c.4883G>A (p.Gly1628Glu) c.4790G>A (p.Gly1597Glu) c.3344G>A (p.Gly1115Glu) | |
| 8 | g.41933450_41933452dup | CA2687076956 | KAT6A | c.4770_4772dup (p.Gly1591_Leu1592insGly) c.4776_4778dup (p.Gly1593_Leu1594insGly) c.3451_3453dup c.4902_4904dup (p.Gly1635_Leu1636insGly) c.4881_4883dup (p.Gly1628_Leu1629insGly) c.4788_4790dup (p.Gly1597_Leu1598insGly) c.3342_3344dup (p.Gly1115_Leu1116insGly) | gnomAD v4 |
| 8 | g.41933449C>A | CA371064674 | KAT6A | c.4771G>T (p.Gly1591Trp) c.4777G>T (p.Gly1593Trp) c.3452G>T c.4903G>T (p.Gly1635Trp) c.4882G>T (p.Gly1628Trp) c.4789G>T (p.Gly1597Trp) c.3343G>T (p.Gly1115Trp) | |
| 8 | g.41933449C= | CA1779195940 | KAT6A | c.4771G= (p.Gly1591=) c.4777G= (p.Gly1593=) c.3452G= c.4903G= (p.Gly1635=) c.4882G= (p.Gly1628=) c.4789G= (p.Gly1597=) c.3343G= (p.Gly1115=) | |
| 8 | g.41933449C>G | CA371064675 | KAT6A | c.4771G>C (p.Gly1591Arg) c.4777G>C (p.Gly1593Arg) c.3452G>C c.4903G>C (p.Gly1635Arg) c.4882G>C (p.Gly1628Arg) c.4789G>C (p.Gly1597Arg) c.3343G>C (p.Gly1115Arg) | |
| 8 | g.41933449C>T | CA371064676 | KAT6A | c.4771G>A (p.Gly1591Arg) c.4777G>A (p.Gly1593Arg) c.3452G>A c.4903G>A (p.Gly1635Arg) c.4882G>A (p.Gly1628Arg) c.4789G>A (p.Gly1597Arg) c.3343G>A (p.Gly1115Arg) | dbSNP gnomAD v2 |
| 8 | g.41933450A>C | CA460783787 | KAT6A | c.4770T>G (p.Gly1590=) c.4776T>G (p.Gly1592=) c.3451T>G c.4902T>G (p.Gly1634=) c.4881T>G (p.Gly1627=) c.4788T>G (p.Gly1596=) c.3342T>G (p.Gly1114=) | |
| 8 | g.41933450A>G | CA460783789 | KAT6A | c.4770T>C (p.Gly1590=) c.4776T>C (p.Gly1592=) c.3451T>C c.4902T>C (p.Gly1634=) c.4881T>C (p.Gly1627=) c.4788T>C (p.Gly1596=) c.3342T>C (p.Gly1114=) | |
| 8 | g.41933450A>T | CA460783791 | KAT6A | c.4770T>A (p.Gly1590=) c.4776T>A (p.Gly1592=) c.3451T>A c.4902T>A (p.Gly1634=) c.4881T>A (p.Gly1627=) c.4788T>A (p.Gly1596=) c.3342T>A (p.Gly1114=) | |
| 8 | g.41933451C>A | CA4729431 | KAT6A | c.4769G>T (p.Gly1590Val) c.4775G>T (p.Gly1592Val) c.3450G>T c.4901G>T (p.Gly1634Val) c.4880G>T (p.Gly1627Val) c.4787G>T (p.Gly1596Val) c.3341G>T (p.Gly1114Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933451C= | CA1779195941 | KAT6A | c.4769G= (p.Gly1590=) c.4775G= (p.Gly1592=) c.3450G= c.4901G= (p.Gly1634=) c.4880G= (p.Gly1627=) c.4787G= (p.Gly1596=) c.3341G= (p.Gly1114=) | |
| 8 | g.41933451C>G | CA371064678 | KAT6A | c.4769G>C (p.Gly1590Ala) c.4775G>C (p.Gly1592Ala) c.3450G>C c.4901G>C (p.Gly1634Ala) c.4880G>C (p.Gly1627Ala) c.4787G>C (p.Gly1596Ala) c.3341G>C (p.Gly1114Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933451C>T | CA371064677 | KAT6A | c.4769G>A (p.Gly1590Asp) c.4775G>A (p.Gly1592Asp) c.3450G>A c.4901G>A (p.Gly1634Asp) c.4880G>A (p.Gly1627Asp) c.4787G>A (p.Gly1596Asp) c.3341G>A (p.Gly1114Asp) | |
| 8 | g.41933452C>A | CA371064679 | KAT6A | c.4768G>T (p.Gly1590Cys) c.4774G>T (p.Gly1592Cys) c.3449G>T c.4900G>T (p.Gly1634Cys) c.4879G>T (p.Gly1627Cys) c.4786G>T (p.Gly1596Cys) c.3340G>T (p.Gly1114Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933452C= | CA1779195942 | KAT6A | c.4768G= (p.Gly1590=) c.4774G= (p.Gly1592=) c.3449G= c.4900G= (p.Gly1634=) c.4879G= (p.Gly1627=) c.4786G= (p.Gly1596=) c.3340G= (p.Gly1114=) | |
| 8 | g.41933452C>G | CA371064680 | KAT6A | c.4768G>C (p.Gly1590Arg) c.4774G>C (p.Gly1592Arg) c.3449G>C c.4900G>C (p.Gly1634Arg) c.4879G>C (p.Gly1627Arg) c.4786G>C (p.Gly1596Arg) c.3340G>C (p.Gly1114Arg) | ClinVar gnomAD v4 |
| 8 | g.41933452C>T | CA4729432 | KAT6A | c.4768G>A (p.Gly1590Ser) c.4774G>A (p.Gly1592Ser) c.3449G>A c.4900G>A (p.Gly1634Ser) c.4879G>A (p.Gly1627Ser) c.4786G>A (p.Gly1596Ser) c.3340G>A (p.Gly1114Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933453G>A | CA4729433 | KAT6A | c.4767C>T (p.Tyr1589=) c.4773C>T (p.Tyr1591=) c.3448C>T c.4899C>T (p.Tyr1633=) c.4878C>T (p.Tyr1626=) c.4785C>T (p.Tyr1595=) c.3339C>T (p.Tyr1113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933453G>C | CA371064681 | KAT6A | c.4767C>G (p.Tyr1589Ter) c.4773C>G (p.Tyr1591Ter) c.3448C>G c.4899C>G (p.Tyr1633Ter) c.4878C>G (p.Tyr1626Ter) c.4785C>G (p.Tyr1595Ter) c.3339C>G (p.Tyr1113Ter) | |
| 8 | g.41933453G= | CA1779195943 | KAT6A | c.4767C= (p.Tyr1589=) c.4773C= (p.Tyr1591=) c.3448C= c.4899C= (p.Tyr1633=) c.4878C= (p.Tyr1626=) c.4785C= (p.Tyr1595=) c.3339C= (p.Tyr1113=) | |
| 8 | g.41933453G>T | CA371064682 | KAT6A | c.4767C>A (p.Tyr1589Ter) c.4773C>A (p.Tyr1591Ter) c.3448C>A c.4899C>A (p.Tyr1633Ter) c.4878C>A (p.Tyr1626Ter) c.4785C>A (p.Tyr1595Ter) c.3339C>A (p.Tyr1113Ter) | |
| 8 | g.41933453dup | CA2739290069 | KAT6A | c.4767dup (p.Gly1590ArgfsTer?) c.4773dup (p.Gly1592ArgfsTer?) c.3448dup c.4899dup (p.Gly1634ArgfsTer?) c.4878dup (p.Gly1627ArgfsTer?) c.4785dup (p.Gly1596ArgfsTer?) c.3339dup (p.Gly1114ArgfsTer?) | |
| 8 | g.41933454T>A | CA371064683 | KAT6A | c.4766A>T (p.Tyr1589Phe) c.4772A>T (p.Tyr1591Phe) c.3447A>T c.4898A>T (p.Tyr1633Phe) c.4877A>T (p.Tyr1626Phe) c.4784A>T (p.Tyr1595Phe) c.3338A>T (p.Tyr1113Phe) | gnomAD v4 |
| 8 | g.41933454T>C | CA4729434 | KAT6A | c.4766A>G (p.Tyr1589Cys) c.4772A>G (p.Tyr1591Cys) c.3447A>G c.4898A>G (p.Tyr1633Cys) c.4877A>G (p.Tyr1626Cys) c.4784A>G (p.Tyr1595Cys) c.3338A>G (p.Tyr1113Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933454T>G | CA371064684 | KAT6A | c.4766A>C (p.Tyr1589Ser) c.4772A>C (p.Tyr1591Ser) c.3447A>C c.4898A>C (p.Tyr1633Ser) c.4877A>C (p.Tyr1626Ser) c.4784A>C (p.Tyr1595Ser) c.3338A>C (p.Tyr1113Ser) | |
| 8 | g.41933454T= | CA1779195944 | KAT6A | c.4766A= (p.Tyr1589=) c.4772A= (p.Tyr1591=) c.3447A= c.4898A= (p.Tyr1633=) c.4877A= (p.Tyr1626=) c.4784A= (p.Tyr1595=) c.3338A= (p.Tyr1113=) | |
| 8 | g.41933455A>C | CA371064685 | KAT6A | c.4765T>G (p.Tyr1589Asp) c.4771T>G (p.Tyr1591Asp) c.3446T>G c.4897T>G (p.Tyr1633Asp) c.4876T>G (p.Tyr1626Asp) c.4783T>G (p.Tyr1595Asp) c.3337T>G (p.Tyr1113Asp) | |
| 8 | g.41933455A>G | CA371064686 | KAT6A | c.4765T>C (p.Tyr1589His) c.4771T>C (p.Tyr1591His) c.3446T>C c.4897T>C (p.Tyr1633His) c.4876T>C (p.Tyr1626His) c.4783T>C (p.Tyr1595His) c.3337T>C (p.Tyr1113His) | |
| 8 | g.41933455A>T | CA371064687 | KAT6A | c.4765T>A (p.Tyr1589Asn) c.4771T>A (p.Tyr1591Asn) c.3446T>A c.4897T>A (p.Tyr1633Asn) c.4876T>A (p.Tyr1626Asn) c.4783T>A (p.Tyr1595Asn) c.3337T>A (p.Tyr1113Asn) | |
| 8 | g.41933456G>A | CA460783796 | KAT6A | c.4764C>T (p.Ser1588=) c.4770C>T (p.Ser1590=) c.3445C>T c.4896C>T (p.Ser1632=) c.4875C>T (p.Ser1625=) c.4782C>T (p.Ser1594=) c.3336C>T (p.Ser1112=) | dbSNP |
| 8 | g.41933456G>C | CA460783795 | KAT6A | c.4764C>G (p.Ser1588=) c.4770C>G (p.Ser1590=) c.3445C>G c.4896C>G (p.Ser1632=) c.4875C>G (p.Ser1625=) c.4782C>G (p.Ser1594=) c.3336C>G (p.Ser1112=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933456G= | CA1779195945 | KAT6A | c.4764C= (p.Ser1588=) c.4770C= (p.Ser1590=) c.3445C= c.4896C= (p.Ser1632=) c.4875C= (p.Ser1625=) c.4782C= (p.Ser1594=) c.3336C= (p.Ser1112=) | |
| 8 | g.41933456G>T | CA460783794 | KAT6A | c.4764C>A (p.Ser1588=) c.4770C>A (p.Ser1590=) c.3445C>A c.4896C>A (p.Ser1632=) c.4875C>A (p.Ser1625=) c.4782C>A (p.Ser1594=) c.3336C>A (p.Ser1112=) | |
| 8 | g.41933456_41933457delinsAA | CA645564873 | KAT6A | c.4763_4764delinsTT (p.Ser1588Phe) c.4769_4770delinsTT (p.Ser1590Phe) c.3444_3445delinsTT c.4895_4896delinsTT (p.Ser1632Phe) c.4874_4875delinsTT (p.Ser1625Phe) c.4781_4782delinsTT (p.Ser1594Phe) c.3335_3336delinsTT (p.Ser1112Phe) | COSMIC |
| 8 | g.41933457G>A | CA371064690 | KAT6A | c.4763C>T (p.Ser1588Phe) c.4769C>T (p.Ser1590Phe) c.3444C>T c.4895C>T (p.Ser1632Phe) c.4874C>T (p.Ser1625Phe) c.4781C>T (p.Ser1594Phe) c.3335C>T (p.Ser1112Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933457G>C | CA371064689 | KAT6A | c.4763C>G (p.Ser1588Cys) c.4769C>G (p.Ser1590Cys) c.3444C>G c.4895C>G (p.Ser1632Cys) c.4874C>G (p.Ser1625Cys) c.4781C>G (p.Ser1594Cys) c.3335C>G (p.Ser1112Cys) | |
| 8 | g.41933457G>T | CA371064688 | KAT6A | c.4763C>A (p.Ser1588Tyr) c.4769C>A (p.Ser1590Tyr) c.3444C>A c.4895C>A (p.Ser1632Tyr) c.4874C>A (p.Ser1625Tyr) c.4781C>A (p.Ser1594Tyr) c.3335C>A (p.Ser1112Tyr) | |
| 8 | g.41933458A>C | CA371064691 | KAT6A | c.4762T>G (p.Ser1588Ala) c.4768T>G (p.Ser1590Ala) c.3443T>G c.4894T>G (p.Ser1632Ala) c.4873T>G (p.Ser1625Ala) c.4780T>G (p.Ser1594Ala) c.3334T>G (p.Ser1112Ala) | |
| 8 | g.41933458A>G | CA371064692 | KAT6A | c.4762T>C (p.Ser1588Pro) c.4768T>C (p.Ser1590Pro) c.3443T>C c.4894T>C (p.Ser1632Pro) c.4873T>C (p.Ser1625Pro) c.4780T>C (p.Ser1594Pro) c.3334T>C (p.Ser1112Pro) | gnomAD v4 |
| 8 | g.41933458A>T | CA371064693 | KAT6A | c.4762T>A (p.Ser1588Thr) c.4768T>A (p.Ser1590Thr) c.3443T>A c.4894T>A (p.Ser1632Thr) c.4873T>A (p.Ser1625Thr) c.4780T>A (p.Ser1594Thr) c.3334T>A (p.Ser1112Thr) | |
| 8 | g.41933459G>A | CA460783799 | KAT6A | c.4761C>T (p.Cys1587=) c.4767C>T (p.Cys1589=) c.3442C>T c.4893C>T (p.Cys1631=) c.4872C>T (p.Cys1624=) c.4779C>T (p.Cys1593=) c.3333C>T (p.Cys1111=) | gnomAD v4 |
| 8 | g.41933459G>C | CA371064694 | KAT6A | c.4761C>G (p.Cys1587Trp) c.4767C>G (p.Cys1589Trp) c.3442C>G c.4893C>G (p.Cys1631Trp) c.4872C>G (p.Cys1624Trp) c.4779C>G (p.Cys1593Trp) c.3333C>G (p.Cys1111Trp) | |
| 8 | g.41933459G= | CA1779195946 | KAT6A | c.4761C= (p.Cys1587=) c.4767C= (p.Cys1589=) c.3442C= c.4893C= (p.Cys1631=) c.4872C= (p.Cys1624=) c.4779C= (p.Cys1593=) c.3333C= (p.Cys1111=) | |
| 8 | g.41933459G>T | CA371064695 | KAT6A | c.4761C>A (p.Cys1587Ter) c.4767C>A (p.Cys1589Ter) c.3442C>A c.4893C>A (p.Cys1631Ter) c.4872C>A (p.Cys1624Ter) c.4779C>A (p.Cys1593Ter) c.3333C>A (p.Cys1111Ter) | dbSNP gnomAD v2 |
| 8 | g.41933460C>A | CA371064696 | KAT6A | c.4760G>T (p.Cys1587Phe) c.4766G>T (p.Cys1589Phe) c.3441G>T c.4892G>T (p.Cys1631Phe) c.4871G>T (p.Cys1624Phe) c.4778G>T (p.Cys1593Phe) c.3332G>T (p.Cys1111Phe) | |
| 8 | g.41933460C>G | CA371064697 | KAT6A | c.4760G>C (p.Cys1587Ser) c.4766G>C (p.Cys1589Ser) c.3441G>C c.4892G>C (p.Cys1631Ser) c.4871G>C (p.Cys1624Ser) c.4778G>C (p.Cys1593Ser) c.3332G>C (p.Cys1111Ser) | |
| 8 | g.41933460C>T | CA371064698 | KAT6A | c.4760G>A (p.Cys1587Tyr) c.4766G>A (p.Cys1589Tyr) c.3441G>A c.4892G>A (p.Cys1631Tyr) c.4871G>A (p.Cys1624Tyr) c.4778G>A (p.Cys1593Tyr) c.3332G>A (p.Cys1111Tyr) | |
| 8 | g.41933461A>C | CA371064699 | KAT6A | c.4759T>G (p.Cys1587Gly) c.4765T>G (p.Cys1589Gly) c.3440T>G c.4891T>G (p.Cys1631Gly) c.4870T>G (p.Cys1624Gly) c.4777T>G (p.Cys1593Gly) c.3331T>G (p.Cys1111Gly) | ClinVar dbSNP |
| 8 | g.41933461A>G | CA371064700 | KAT6A | c.4759T>C (p.Cys1587Arg) c.4765T>C (p.Cys1589Arg) c.3440T>C c.4891T>C (p.Cys1631Arg) c.4870T>C (p.Cys1624Arg) c.4777T>C (p.Cys1593Arg) c.3331T>C (p.Cys1111Arg) | |
| 8 | g.41933461A>T | CA371064701 | KAT6A | c.4759T>A (p.Cys1587Ser) c.4765T>A (p.Cys1589Ser) c.3440T>A c.4891T>A (p.Cys1631Ser) c.4870T>A (p.Cys1624Ser) c.4777T>A (p.Cys1593Ser) c.3331T>A (p.Cys1111Ser) | |
| 8 | g.41933462G>A | CA460783801 | KAT6A | c.4758C>T (p.Ser1586=) c.4764C>T (p.Ser1588=) c.3439C>T c.4890C>T (p.Ser1630=) c.4869C>T (p.Ser1623=) c.4776C>T (p.Ser1592=) c.3330C>T (p.Ser1110=) | |
| 8 | g.41933462G>C | CA371064702 | KAT6A | c.4758C>G (p.Ser1586Arg) c.4764C>G (p.Ser1588Arg) c.3439C>G c.4890C>G (p.Ser1630Arg) c.4869C>G (p.Ser1623Arg) c.4776C>G (p.Ser1592Arg) c.3330C>G (p.Ser1110Arg) | |
| 8 | g.41933462G>T | CA371064703 | KAT6A | c.4758C>A (p.Ser1586Arg) c.4764C>A (p.Ser1588Arg) c.3439C>A c.4890C>A (p.Ser1630Arg) c.4869C>A (p.Ser1623Arg) c.4776C>A (p.Ser1592Arg) c.3330C>A (p.Ser1110Arg) | |
| 8 | g.41933463C>A | CA371064705 | KAT6A | c.4757G>T (p.Ser1586Ile) c.4763G>T (p.Ser1588Ile) c.3438G>T c.4889G>T (p.Ser1630Ile) c.4868G>T (p.Ser1623Ile) c.4775G>T (p.Ser1592Ile) c.3329G>T (p.Ser1110Ile) | |
| 8 | g.41933463C= | CA1779195947 | KAT6A | c.4757G= (p.Ser1586=) c.4763G= (p.Ser1588=) c.3438G= c.4889G= (p.Ser1630=) c.4868G= (p.Ser1623=) c.4775G= (p.Ser1592=) c.3329G= (p.Ser1110=) | |
| 8 | g.41933463C>G | CA371064706 | KAT6A | c.4757G>C (p.Ser1586Thr) c.4763G>C (p.Ser1588Thr) c.3438G>C c.4889G>C (p.Ser1630Thr) c.4868G>C (p.Ser1623Thr) c.4775G>C (p.Ser1592Thr) c.3329G>C (p.Ser1110Thr) | gnomAD v4 |
| 8 | g.41933463C>T | CA371064704 | KAT6A | c.4757G>A (p.Ser1586Asn) c.4763G>A (p.Ser1588Asn) c.3438G>A c.4889G>A (p.Ser1630Asn) c.4868G>A (p.Ser1623Asn) c.4775G>A (p.Ser1592Asn) c.3329G>A (p.Ser1110Asn) | dbSNP |
| 8 | g.41933464T>A | CA371064708 | KAT6A | c.4756A>T (p.Ser1586Cys) c.4762A>T (p.Ser1588Cys) c.3437A>T c.4888A>T (p.Ser1630Cys) c.4867A>T (p.Ser1623Cys) c.4774A>T (p.Ser1592Cys) c.3328A>T (p.Ser1110Cys) | |
| 8 | g.41933464T>C | CA371064707 | KAT6A | c.4756A>G (p.Ser1586Gly) c.4762A>G (p.Ser1588Gly) c.3437A>G c.4888A>G (p.Ser1630Gly) c.4867A>G (p.Ser1623Gly) c.4774A>G (p.Ser1592Gly) c.3328A>G (p.Ser1110Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933464T>G | CA371064709 | KAT6A | c.4756A>C (p.Ser1586Arg) c.4762A>C (p.Ser1588Arg) c.3437A>C c.4888A>C (p.Ser1630Arg) c.4867A>C (p.Ser1623Arg) c.4774A>C (p.Ser1592Arg) c.3328A>C (p.Ser1110Arg) | |
| 8 | g.41933464T= | CA1779195948 | KAT6A | c.4756A= (p.Ser1586=) c.4762A= (p.Ser1588=) c.3437A= c.4888A= (p.Ser1630=) c.4867A= (p.Ser1623=) c.4774A= (p.Ser1592=) c.3328A= (p.Ser1110=) | |
| 8 | g.41933465G>A | CA460783806 | KAT6A | c.4755C>T (p.Ser1585=) c.4761C>T (p.Ser1587=) c.3436C>T c.4887C>T (p.Ser1629=) c.4866C>T (p.Ser1622=) c.4773C>T (p.Ser1591=) c.3327C>T (p.Ser1109=) | |
| 8 | g.41933465G>C | CA371064710 | KAT6A | c.4755C>G (p.Ser1585Arg) c.4761C>G (p.Ser1587Arg) c.3436C>G c.4887C>G (p.Ser1629Arg) c.4866C>G (p.Ser1622Arg) c.4773C>G (p.Ser1591Arg) c.3327C>G (p.Ser1109Arg) | |
| 8 | g.41933465G>T | CA371064711 | KAT6A | c.4755C>A (p.Ser1585Arg) c.4761C>A (p.Ser1587Arg) c.3436C>A c.4887C>A (p.Ser1629Arg) c.4866C>A (p.Ser1622Arg) c.4773C>A (p.Ser1591Arg) c.3327C>A (p.Ser1109Arg) | |
| 8 | g.41933466C>A | CA371064712 | KAT6A | c.4754G>T (p.Ser1585Ile) c.4760G>T (p.Ser1587Ile) c.3435G>T c.4886G>T (p.Ser1629Ile) c.4865G>T (p.Ser1622Ile) c.4772G>T (p.Ser1591Ile) c.3326G>T (p.Ser1109Ile) | COSMIC |
| 8 | g.41933466C= | CA1779195949 | KAT6A | c.4754G= (p.Ser1585=) c.4760G= (p.Ser1587=) c.3435G= c.4886G= (p.Ser1629=) c.4865G= (p.Ser1622=) c.4772G= (p.Ser1591=) c.3326G= (p.Ser1109=) | |
| 8 | g.41933466C>G | CA371064714 | KAT6A | c.4754G>C (p.Ser1585Thr) c.4760G>C (p.Ser1587Thr) c.3435G>C c.4886G>C (p.Ser1629Thr) c.4865G>C (p.Ser1622Thr) c.4772G>C (p.Ser1591Thr) c.3326G>C (p.Ser1109Thr) | |
| 8 | g.41933466C>T | CA371064713 | KAT6A | c.4754G>A (p.Ser1585Asn) c.4760G>A (p.Ser1587Asn) c.3435G>A c.4886G>A (p.Ser1629Asn) c.4865G>A (p.Ser1622Asn) c.4772G>A (p.Ser1591Asn) c.3326G>A (p.Ser1109Asn) | dbSNP gnomAD v4 |
| 8 | g.41933467T>A | CA371064715 | KAT6A | c.4753A>T (p.Ser1585Cys) c.4759A>T (p.Ser1587Cys) c.3434A>T c.4885A>T (p.Ser1629Cys) c.4864A>T (p.Ser1622Cys) c.4771A>T (p.Ser1591Cys) c.3325A>T (p.Ser1109Cys) | |
| 8 | g.41933467T>C | CA371064717 | KAT6A | c.4753A>G (p.Ser1585Gly) c.4759A>G (p.Ser1587Gly) c.3434A>G c.4885A>G (p.Ser1629Gly) c.4864A>G (p.Ser1622Gly) c.4771A>G (p.Ser1591Gly) c.3325A>G (p.Ser1109Gly) | ClinVar dbSNP |
| 8 | g.41933467T>G | CA371064716 | KAT6A | c.4753A>C (p.Ser1585Arg) c.4759A>C (p.Ser1587Arg) c.3434A>C c.4885A>C (p.Ser1629Arg) c.4864A>C (p.Ser1622Arg) c.4771A>C (p.Ser1591Arg) c.3325A>C (p.Ser1109Arg) | |
| 8 | g.41933467T= | CA1779195950 | KAT6A | c.4753A= (p.Ser1585=) c.4759A= (p.Ser1587=) c.3434A= c.4885A= (p.Ser1629=) c.4864A= (p.Ser1622=) c.4771A= (p.Ser1591=) c.3325A= (p.Ser1109=) | |
| 8 | g.41933468C>A | CA371064718 | KAT6A | c.4752G>T (p.Gln1584His) c.4758G>T (p.Gln1586His) c.3433G>T c.4884G>T (p.Gln1628His) c.4863G>T (p.Gln1621His) c.4770G>T (p.Gln1590His) c.3324G>T (p.Gln1108His) | |
| 8 | g.41933468C>G | CA371064719 | KAT6A | c.4752G>C (p.Gln1584His) c.4758G>C (p.Gln1586His) c.3433G>C c.4884G>C (p.Gln1628His) c.4863G>C (p.Gln1621His) c.4770G>C (p.Gln1590His) c.3324G>C (p.Gln1108His) | ClinVar dbSNP |
| 8 | g.41933468C>T | CA460783811 | KAT6A | c.4752G>A (p.Gln1584=) c.4758G>A (p.Gln1586=) c.3433G>A c.4884G>A (p.Gln1628=) c.4863G>A (p.Gln1621=) c.4770G>A (p.Gln1590=) c.3324G>A (p.Gln1108=) | |
| 8 | g.41933469T>A | CA371064720 | KAT6A | c.4751A>T (p.Gln1584Leu) c.4757A>T (p.Gln1586Leu) c.3432A>T c.4883A>T (p.Gln1628Leu) c.4862A>T (p.Gln1621Leu) c.4769A>T (p.Gln1590Leu) c.3323A>T (p.Gln1108Leu) | |
| 8 | g.41933469T>C | CA371064722 | KAT6A | c.4751A>G (p.Gln1584Arg) c.4757A>G (p.Gln1586Arg) c.3432A>G c.4883A>G (p.Gln1628Arg) c.4862A>G (p.Gln1621Arg) c.4769A>G (p.Gln1590Arg) c.3323A>G (p.Gln1108Arg) | |
| 8 | g.41933469T>G | CA371064721 | KAT6A | c.4751A>C (p.Gln1584Pro) c.4757A>C (p.Gln1586Pro) c.3432A>C c.4883A>C (p.Gln1628Pro) c.4862A>C (p.Gln1621Pro) c.4769A>C (p.Gln1590Pro) c.3323A>C (p.Gln1108Pro) | |
| 8 | g.41933470G>A | CA371064723 | KAT6A | c.4750C>T (p.Gln1584Ter) c.4756C>T (p.Gln1586Ter) c.3431C>T c.4882C>T (p.Gln1628Ter) c.4861C>T (p.Gln1621Ter) c.4768C>T (p.Gln1590Ter) c.3322C>T (p.Gln1108Ter) | |
| 8 | g.41933470G>C | CA371064724 | KAT6A | c.4750C>G (p.Gln1584Glu) c.4756C>G (p.Gln1586Glu) c.3431C>G c.4882C>G (p.Gln1628Glu) c.4861C>G (p.Gln1621Glu) c.4768C>G (p.Gln1590Glu) c.3322C>G (p.Gln1108Glu) | |
| 8 | g.41933470G>T | CA371064725 | KAT6A | c.4750C>A (p.Gln1584Lys) c.4756C>A (p.Gln1586Lys) c.3431C>A c.4882C>A (p.Gln1628Lys) c.4861C>A (p.Gln1621Lys) c.4768C>A (p.Gln1590Lys) c.3322C>A (p.Gln1108Lys) | |
| 8 | g.41933471G>A | CA460783815 | KAT6A | c.4749C>T (p.Ser1583=) c.4755C>T (p.Ser1585=) c.3430C>T c.4881C>T (p.Ser1627=) c.4860C>T (p.Ser1620=) c.4767C>T (p.Ser1589=) c.3321C>T (p.Ser1107=) | gnomAD v4 |
| 8 | g.41933471G>C | CA460783816 | KAT6A | c.4749C>G (p.Ser1583=) c.4755C>G (p.Ser1585=) c.3430C>G c.4881C>G (p.Ser1627=) c.4860C>G (p.Ser1620=) c.4767C>G (p.Ser1589=) c.3321C>G (p.Ser1107=) | |
| 8 | g.41933471G>T | CA460783817 | KAT6A | c.4749C>A (p.Ser1583=) c.4755C>A (p.Ser1585=) c.3430C>A c.4881C>A (p.Ser1627=) c.4860C>A (p.Ser1620=) c.4767C>A (p.Ser1589=) c.3321C>A (p.Ser1107=) | gnomAD v4 |
| 8 | g.41933472G>A | CA371064726 | KAT6A | c.4748C>T (p.Ser1583Phe) c.4754C>T (p.Ser1585Phe) c.3429C>T c.4880C>T (p.Ser1627Phe) c.4859C>T (p.Ser1620Phe) c.4766C>T (p.Ser1589Phe) c.3320C>T (p.Ser1107Phe) | COSMIC |
| 8 | g.41933472G>C | CA371064727 | KAT6A | c.4748C>G (p.Ser1583Cys) c.4754C>G (p.Ser1585Cys) c.3429C>G c.4880C>G (p.Ser1627Cys) c.4859C>G (p.Ser1620Cys) c.4766C>G (p.Ser1589Cys) c.3320C>G (p.Ser1107Cys) | |
| 8 | g.41933472G>T | CA371064728 | KAT6A | c.4748C>A (p.Ser1583Tyr) c.4754C>A (p.Ser1585Tyr) c.3429C>A c.4880C>A (p.Ser1627Tyr) c.4859C>A (p.Ser1620Tyr) c.4766C>A (p.Ser1589Tyr) c.3320C>A (p.Ser1107Tyr) | |
| 8 | g.41933473A= | CA1779195951 | KAT6A | c.4747T= (p.Ser1583=) c.4753T= (p.Ser1585=) c.3428T= c.4879T= (p.Ser1627=) c.4858T= (p.Ser1620=) c.4765T= (p.Ser1589=) c.3319T= (p.Ser1107=) | |
| 8 | g.41933473A>C | CA371064729 | KAT6A | c.4747T>G (p.Ser1583Ala) c.4753T>G (p.Ser1585Ala) c.3428T>G c.4879T>G (p.Ser1627Ala) c.4858T>G (p.Ser1620Ala) c.4765T>G (p.Ser1589Ala) c.3319T>G (p.Ser1107Ala) | |
| 8 | g.41933473A>G | CA371064730 | KAT6A | c.4747T>C (p.Ser1583Pro) c.4753T>C (p.Ser1585Pro) c.3428T>C c.4879T>C (p.Ser1627Pro) c.4858T>C (p.Ser1620Pro) c.4765T>C (p.Ser1589Pro) c.3319T>C (p.Ser1107Pro) | dbSNP |
| 8 | g.41933473A>T | CA371064731 | KAT6A | c.4747T>A (p.Ser1583Thr) c.4753T>A (p.Ser1585Thr) c.3428T>A c.4879T>A (p.Ser1627Thr) c.4858T>A (p.Ser1620Thr) c.4765T>A (p.Ser1589Thr) c.3319T>A (p.Ser1107Thr) | |
| 8 | g.41933474A= | CA1779195952 | KAT6A | c.4746T= (p.Ser1582=) c.4752T= (p.Ser1584=) c.3427T= c.4878T= (p.Ser1626=) c.4857T= (p.Ser1619=) c.4764T= (p.Ser1588=) c.3318T= (p.Ser1106=) | |
| 8 | g.41933474A>C | CA460783826 | KAT6A | c.4746T>G (p.Ser1582=) c.4752T>G (p.Ser1584=) c.3427T>G c.4878T>G (p.Ser1626=) c.4857T>G (p.Ser1619=) c.4764T>G (p.Ser1588=) c.3318T>G (p.Ser1106=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933474A>G | CA460783827 | KAT6A | c.4746T>C (p.Ser1582=) c.4752T>C (p.Ser1584=) c.3427T>C c.4878T>C (p.Ser1626=) c.4857T>C (p.Ser1619=) c.4764T>C (p.Ser1588=) c.3318T>C (p.Ser1106=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933474A>T | CA460783828 | KAT6A | c.4746T>A (p.Ser1582=) c.4752T>A (p.Ser1584=) c.3427T>A c.4878T>A (p.Ser1626=) c.4857T>A (p.Ser1619=) c.4764T>A (p.Ser1588=) c.3318T>A (p.Ser1106=) | |
| 8 | g.41933475G>A | CA371064734 | KAT6A | c.4745C>T (p.Ser1582Phe) c.4751C>T (p.Ser1584Phe) c.3426C>T c.4877C>T (p.Ser1626Phe) c.4856C>T (p.Ser1619Phe) c.4763C>T (p.Ser1588Phe) c.3317C>T (p.Ser1106Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933475G>C | CA371064733 | KAT6A | c.4745C>G (p.Ser1582Cys) c.4751C>G (p.Ser1584Cys) c.3426C>G c.4877C>G (p.Ser1626Cys) c.4856C>G (p.Ser1619Cys) c.4763C>G (p.Ser1588Cys) c.3317C>G (p.Ser1106Cys) | gnomAD v4 |
| 8 | g.41933475G= | CA1779195953 | KAT6A | c.4745C= (p.Ser1582=) c.4751C= (p.Ser1584=) c.3426C= c.4877C= (p.Ser1626=) c.4856C= (p.Ser1619=) c.4763C= (p.Ser1588=) c.3317C= (p.Ser1106=) | |
| 8 | g.41933475G>T | CA371064732 | KAT6A | c.4745C>A (p.Ser1582Tyr) c.4751C>A (p.Ser1584Tyr) c.3426C>A c.4877C>A (p.Ser1626Tyr) c.4856C>A (p.Ser1619Tyr) c.4763C>A (p.Ser1588Tyr) c.3317C>A (p.Ser1106Tyr) | |
| 8 | g.41933476A>C | CA371064735 | KAT6A | c.4744T>G (p.Ser1582Ala) c.4750T>G (p.Ser1584Ala) c.3425T>G c.4876T>G (p.Ser1626Ala) c.4855T>G (p.Ser1619Ala) c.4762T>G (p.Ser1588Ala) c.3316T>G (p.Ser1106Ala) | |
| 8 | g.41933476A>G | CA371064736 | KAT6A | c.4744T>C (p.Ser1582Pro) c.4750T>C (p.Ser1584Pro) c.3425T>C c.4876T>C (p.Ser1626Pro) c.4855T>C (p.Ser1619Pro) c.4762T>C (p.Ser1588Pro) c.3316T>C (p.Ser1106Pro) | |
| 8 | g.41933476A>T | CA371064737 | KAT6A | c.4744T>A (p.Ser1582Thr) c.4750T>A (p.Ser1584Thr) c.3425T>A c.4876T>A (p.Ser1626Thr) c.4855T>A (p.Ser1619Thr) c.4762T>A (p.Ser1588Thr) c.3316T>A (p.Ser1106Thr) | |
| 8 | g.41933477G>A | CA460783832 | KAT6A | c.4743C>T (p.Ser1581=) c.4749C>T (p.Ser1583=) c.3424C>T c.4875C>T (p.Ser1625=) c.4854C>T (p.Ser1618=) c.4761C>T (p.Ser1587=) c.3315C>T (p.Ser1105=) | gnomAD v4 |
| 8 | g.41933477G>C | CA371064738 | KAT6A | c.4743C>G (p.Ser1581Arg) c.4749C>G (p.Ser1583Arg) c.3424C>G c.4875C>G (p.Ser1625Arg) c.4854C>G (p.Ser1618Arg) c.4761C>G (p.Ser1587Arg) c.3315C>G (p.Ser1105Arg) | |
| 8 | g.41933477G>T | CA371064739 | KAT6A | c.4743C>A (p.Ser1581Arg) c.4749C>A (p.Ser1583Arg) c.3424C>A c.4875C>A (p.Ser1625Arg) c.4854C>A (p.Ser1618Arg) c.4761C>A (p.Ser1587Arg) c.3315C>A (p.Ser1105Arg) | |
| 8 | g.41933478C>A | CA371064740 | KAT6A | c.4742G>T (p.Ser1581Ile) c.4748G>T (p.Ser1583Ile) c.3423G>T c.4874G>T (p.Ser1625Ile) c.4853G>T (p.Ser1618Ile) c.4760G>T (p.Ser1587Ile) c.3314G>T (p.Ser1105Ile) | |
| 8 | g.41933478C= | CA1779195954 | KAT6A | c.4742G= (p.Ser1581=) c.4748G= (p.Ser1583=) c.3423G= c.4874G= (p.Ser1625=) c.4853G= (p.Ser1618=) c.4760G= (p.Ser1587=) c.3314G= (p.Ser1105=) | |
| 8 | g.41933478C>G | CA371064741 | KAT6A | c.4742G>C (p.Ser1581Thr) c.4748G>C (p.Ser1583Thr) c.3423G>C c.4874G>C (p.Ser1625Thr) c.4853G>C (p.Ser1618Thr) c.4760G>C (p.Ser1587Thr) c.3314G>C (p.Ser1105Thr) | ClinVar |
| 8 | g.41933478C>T | CA371064742 | KAT6A | c.4742G>A (p.Ser1581Asn) c.4748G>A (p.Ser1583Asn) c.3423G>A c.4874G>A (p.Ser1625Asn) c.4853G>A (p.Ser1618Asn) c.4760G>A (p.Ser1587Asn) c.3314G>A (p.Ser1105Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933479T>A | CA371064743 | KAT6A | c.4741A>T (p.Ser1581Cys) c.4747A>T (p.Ser1583Cys) c.3422A>T c.4873A>T (p.Ser1625Cys) c.4852A>T (p.Ser1618Cys) c.4759A>T (p.Ser1587Cys) c.3313A>T (p.Ser1105Cys) | |
| 8 | g.41933479T>C | CA371064744 | KAT6A | c.4741A>G (p.Ser1581Gly) c.4747A>G (p.Ser1583Gly) c.3422A>G c.4873A>G (p.Ser1625Gly) c.4852A>G (p.Ser1618Gly) c.4759A>G (p.Ser1587Gly) c.3313A>G (p.Ser1105Gly) | |
| 8 | g.41933479T>G | CA371064745 | KAT6A | c.4741A>C (p.Ser1581Arg) c.4747A>C (p.Ser1583Arg) c.3422A>C c.4873A>C (p.Ser1625Arg) c.4852A>C (p.Ser1618Arg) c.4759A>C (p.Ser1587Arg) c.3313A>C (p.Ser1105Arg) | gnomAD v4 |
| 8 | g.41933480G>A | CA4729435 | KAT6A | c.4740C>T (p.Asn1580=) c.4746C>T (p.Asn1582=) c.3421C>T c.4872C>T (p.Asn1624=) c.4851C>T (p.Asn1617=) c.4758C>T (p.Asn1586=) c.3312C>T (p.Asn1104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933480G>C | CA371064747 | KAT6A | c.4740C>G (p.Asn1580Lys) c.4746C>G (p.Asn1582Lys) c.3421C>G c.4872C>G (p.Asn1624Lys) c.4851C>G (p.Asn1617Lys) c.4758C>G (p.Asn1586Lys) c.3312C>G (p.Asn1104Lys) | |
| 8 | g.41933480G= | CA1779195955 | KAT6A | c.4740C= (p.Asn1580=) c.4746C= (p.Asn1582=) c.3421C= c.4872C= (p.Asn1624=) c.4851C= (p.Asn1617=) c.4758C= (p.Asn1586=) c.3312C= (p.Asn1104=) | |
| 8 | g.41933480G>T | CA371064746 | KAT6A | c.4740C>A (p.Asn1580Lys) c.4746C>A (p.Asn1582Lys) c.3421C>A c.4872C>A (p.Asn1624Lys) c.4851C>A (p.Asn1617Lys) c.4758C>A (p.Asn1586Lys) c.3312C>A (p.Asn1104Lys) | |
| 8 | g.41933481T>A | CA371064748 | KAT6A | c.4739A>T (p.Asn1580Ile) c.4745A>T (p.Asn1582Ile) c.3420A>T c.4871A>T (p.Asn1624Ile) c.4850A>T (p.Asn1617Ile) c.4757A>T (p.Asn1586Ile) c.3311A>T (p.Asn1104Ile) | |
| 8 | g.41933481T>C | CA371064749 | KAT6A | c.4739A>G (p.Asn1580Ser) c.4745A>G (p.Asn1582Ser) c.3420A>G c.4871A>G (p.Asn1624Ser) c.4850A>G (p.Asn1617Ser) c.4757A>G (p.Asn1586Ser) c.3311A>G (p.Asn1104Ser) | |
| 8 | g.41933481T>G | CA371064750 | KAT6A | c.4739A>C (p.Asn1580Thr) c.4745A>C (p.Asn1582Thr) c.3420A>C c.4871A>C (p.Asn1624Thr) c.4850A>C (p.Asn1617Thr) c.4757A>C (p.Asn1586Thr) c.3311A>C (p.Asn1104Thr) | |
| 8 | g.41933482T>A | CA371064751 | KAT6A | c.4738A>T (p.Asn1580Tyr) c.4744A>T (p.Asn1582Tyr) c.3419A>T c.4870A>T (p.Asn1624Tyr) c.4849A>T (p.Asn1617Tyr) c.4756A>T (p.Asn1586Tyr) c.3310A>T (p.Asn1104Tyr) | |
| 8 | g.41933482T>C | CA371064752 | KAT6A | c.4738A>G (p.Asn1580Asp) c.4744A>G (p.Asn1582Asp) c.3419A>G c.4870A>G (p.Asn1624Asp) c.4849A>G (p.Asn1617Asp) c.4756A>G (p.Asn1586Asp) c.3310A>G (p.Asn1104Asp) | |
| 8 | g.41933482T>G | CA371064753 | KAT6A | c.4738A>C (p.Asn1580His) c.4744A>C (p.Asn1582His) c.3419A>C c.4870A>C (p.Asn1624His) c.4849A>C (p.Asn1617His) c.4756A>C (p.Asn1586His) c.3310A>C (p.Asn1104His) |