| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933729G>A | CA460783786 | KAT6A | c.4491C>T (p.Val1497=) c.4497C>T (p.Val1499=) c.3172C>T c.4623C>T (p.Val1541=) c.4602C>T (p.Val1534=) c.4509C>T (p.Val1503=) c.3063C>T (p.Val1021=) | |
| 8 | g.41933729G>C | CA460783790 | KAT6A | c.4491C>G (p.Val1497=) c.4497C>G (p.Val1499=) c.3172C>G c.4623C>G (p.Val1541=) c.4602C>G (p.Val1534=) c.4509C>G (p.Val1503=) c.3063C>G (p.Val1021=) | |
| 8 | g.41933729G>T | CA460783788 | KAT6A | c.4491C>A (p.Val1497=) c.4497C>A (p.Val1499=) c.3172C>A c.4623C>A (p.Val1541=) c.4602C>A (p.Val1534=) c.4509C>A (p.Val1503=) c.3063C>A (p.Val1021=) | gnomAD v4 |
| 8 | g.41933730A>C | CA371065709 | KAT6A | c.4490T>G (p.Val1497Gly) c.4496T>G (p.Val1499Gly) c.3171T>G c.4622T>G (p.Val1541Gly) c.4601T>G (p.Val1534Gly) c.4508T>G (p.Val1503Gly) c.3062T>G (p.Val1021Gly) | |
| 8 | g.41933730A>G | CA371065710 | KAT6A | c.4490T>C (p.Val1497Ala) c.4496T>C (p.Val1499Ala) c.3171T>C c.4622T>C (p.Val1541Ala) c.4601T>C (p.Val1534Ala) c.4508T>C (p.Val1503Ala) c.3062T>C (p.Val1021Ala) | |
| 8 | g.41933730A>T | CA371065711 | KAT6A | c.4490T>A (p.Val1497Asp) c.4496T>A (p.Val1499Asp) c.3171T>A c.4622T>A (p.Val1541Asp) c.4601T>A (p.Val1534Asp) c.4508T>A (p.Val1503Asp) c.3062T>A (p.Val1021Asp) | |
| 8 | g.41933731C>A | CA371065712 | KAT6A | c.4489G>T (p.Val1497Phe) c.4495G>T (p.Val1499Phe) c.3170G>T c.4621G>T (p.Val1541Phe) c.4600G>T (p.Val1534Phe) c.4507G>T (p.Val1503Phe) c.3061G>T (p.Val1021Phe) | |
| 8 | g.41933731C= | CA1779196036 | KAT6A | c.4489G= (p.Val1497=) c.4495G= (p.Val1499=) c.3170G= c.4621G= (p.Val1541=) c.4600G= (p.Val1534=) c.4507G= (p.Val1503=) c.3061G= (p.Val1021=) | |
| 8 | g.41933731C>G | CA371065713 | KAT6A | c.4489G>C (p.Val1497Leu) c.4495G>C (p.Val1499Leu) c.3170G>C c.4621G>C (p.Val1541Leu) c.4600G>C (p.Val1534Leu) c.4507G>C (p.Val1503Leu) c.3061G>C (p.Val1021Leu) | |
| 8 | g.41933731C>T | CA4729467 | KAT6A | c.4489G>A (p.Val1497Ile) c.4495G>A (p.Val1499Ile) c.3170G>A c.4621G>A (p.Val1541Ile) c.4600G>A (p.Val1534Ile) c.4507G>A (p.Val1503Ile) c.3061G>A (p.Val1021Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933732C>A | CA4729468 | KAT6A | c.4488G>T (p.Ser1496=) c.4494G>T (p.Ser1498=) c.3169G>T c.4620G>T (p.Ser1540=) c.4599G>T (p.Ser1533=) c.4506G>T (p.Ser1502=) c.3060G>T (p.Ser1020=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933732C= | CA1779196037 | KAT6A | c.4488G= (p.Ser1496=) c.4494G= (p.Ser1498=) c.3169G= c.4620G= (p.Ser1540=) c.4599G= (p.Ser1533=) c.4506G= (p.Ser1502=) c.3060G= (p.Ser1020=) | |
| 8 | g.41933732C>G | CA460783793 | KAT6A | c.4488G>C (p.Ser1496=) c.4494G>C (p.Ser1498=) c.3169G>C c.4620G>C (p.Ser1540=) c.4599G>C (p.Ser1533=) c.4506G>C (p.Ser1502=) c.3060G>C (p.Ser1020=) | dbSNP |
| 8 | g.41933732C>T | CA4729469 | KAT6A | c.4488G>A (p.Ser1496=) c.4494G>A (p.Ser1498=) c.3169G>A c.4620G>A (p.Ser1540=) c.4599G>A (p.Ser1533=) c.4506G>A (p.Ser1502=) c.3060G>A (p.Ser1020=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933733G>A | CA4729470 | KAT6A | c.4487C>T (p.Ser1496Leu) c.4493C>T (p.Ser1498Leu) c.3168C>T c.4619C>T (p.Ser1540Leu) c.4598C>T (p.Ser1533Leu) c.4505C>T (p.Ser1502Leu) c.3059C>T (p.Ser1020Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933733G>C | CA371065715 | KAT6A | c.4487C>G (p.Ser1496Trp) c.4493C>G (p.Ser1498Trp) c.3168C>G c.4619C>G (p.Ser1540Trp) c.4598C>G (p.Ser1533Trp) c.4505C>G (p.Ser1502Trp) c.3059C>G (p.Ser1020Trp) | gnomAD v4 |
| 8 | g.41933733G= | CA1779196038 | KAT6A | c.4487C= (p.Ser1496=) c.4493C= (p.Ser1498=) c.3168C= c.4619C= (p.Ser1540=) c.4598C= (p.Ser1533=) c.4505C= (p.Ser1502=) c.3059C= (p.Ser1020=) | |
| 8 | g.41933733G>T | CA371065714 | KAT6A | c.4487C>A (p.Ser1496Ter) c.4493C>A (p.Ser1498Ter) c.3168C>A c.4619C>A (p.Ser1540Ter) c.4598C>A (p.Ser1533Ter) c.4505C>A (p.Ser1502Ter) c.3059C>A (p.Ser1020Ter) | |
| 8 | g.41933734A= | CA1779196039 | KAT6A | c.4486T= (p.Ser1496=) c.4492T= (p.Ser1498=) c.3167T= c.4618T= (p.Ser1540=) c.4597T= (p.Ser1533=) c.4504T= (p.Ser1502=) c.3058T= (p.Ser1020=) | |
| 8 | g.41933734A>C | CA371065716 | KAT6A | c.4486T>G (p.Ser1496Ala) c.4492T>G (p.Ser1498Ala) c.3167T>G c.4618T>G (p.Ser1540Ala) c.4597T>G (p.Ser1533Ala) c.4504T>G (p.Ser1502Ala) c.3058T>G (p.Ser1020Ala) | |
| 8 | g.41933734A>G | CA371065717 | KAT6A | c.4486T>C (p.Ser1496Pro) c.4492T>C (p.Ser1498Pro) c.3167T>C c.4618T>C (p.Ser1540Pro) c.4597T>C (p.Ser1533Pro) c.4504T>C (p.Ser1502Pro) c.3058T>C (p.Ser1020Pro) | |
| 8 | g.41933734A>T | CA371065718 | KAT6A | c.4486T>A (p.Ser1496Thr) c.4492T>A (p.Ser1498Thr) c.3167T>A c.4618T>A (p.Ser1540Thr) c.4597T>A (p.Ser1533Thr) c.4504T>A (p.Ser1502Thr) c.3058T>A (p.Ser1020Thr) | |
| 8 | g.41933735A>C | CA460783797 | KAT6A | c.4485T>G (p.Arg1495=) c.4491T>G (p.Arg1497=) c.3166T>G c.4617T>G (p.Arg1539=) c.4596T>G (p.Arg1532=) c.4503T>G (p.Arg1501=) c.3057T>G (p.Arg1019=) | |
| 8 | g.41933735A>G | CA460783798 | KAT6A | c.4485T>C (p.Arg1495=) c.4491T>C (p.Arg1497=) c.3166T>C c.4617T>C (p.Arg1539=) c.4596T>C (p.Arg1532=) c.4503T>C (p.Arg1501=) c.3057T>C (p.Arg1019=) | |
| 8 | g.41933735A>T | CA460783800 | KAT6A | c.4485T>A (p.Arg1495=) c.4491T>A (p.Arg1497=) c.3166T>A c.4617T>A (p.Arg1539=) c.4596T>A (p.Arg1532=) c.4503T>A (p.Arg1501=) c.3057T>A (p.Arg1019=) | |
| 8 | g.41933735_41933737dup | CA918248396 | KAT6A | c.4483_4485dup (p.Arg1495_Ser1496insArg) c.4489_4491dup (p.Arg1497_Ser1498insArg) c.3164_3166dup c.4615_4617dup (p.Arg1539_Ser1540insArg) c.4594_4596dup (p.Arg1532_Ser1533insArg) c.4501_4503dup (p.Arg1501_Ser1502insArg) c.3055_3057dup (p.Arg1019_Ser1020insArg) | dbSNP |
| 8 | g.41933736C>A | CA4729472 | KAT6A | c.4484G>T (p.Arg1495Leu) c.4490G>T (p.Arg1497Leu) c.3165G>T c.4616G>T (p.Arg1539Leu) c.4595G>T (p.Arg1532Leu) c.4502G>T (p.Arg1501Leu) c.3056G>T (p.Arg1019Leu) | dbSNP ExAC gnomAD v2 |
| 8 | g.41933736C= | CA1779196040 | KAT6A | c.4484G= (p.Arg1495=) c.4490G= (p.Arg1497=) c.3165G= c.4616G= (p.Arg1539=) c.4595G= (p.Arg1532=) c.4502G= (p.Arg1501=) c.3056G= (p.Arg1019=) | |
| 8 | g.41933736C>G | CA371065719 | KAT6A | c.4484G>C (p.Arg1495Pro) c.4490G>C (p.Arg1497Pro) c.3165G>C c.4616G>C (p.Arg1539Pro) c.4595G>C (p.Arg1532Pro) c.4502G>C (p.Arg1501Pro) c.3056G>C (p.Arg1019Pro) | |
| 8 | g.41933736C>T | CA4729471 | KAT6A | c.4484G>A (p.Arg1495His) c.4490G>A (p.Arg1497His) c.3165G>A c.4616G>A (p.Arg1539His) c.4595G>A (p.Arg1532His) c.4502G>A (p.Arg1501His) c.3056G>A (p.Arg1019His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933737G>A | CA4729473 | KAT6A | c.4483C>T (p.Arg1495Cys) c.4489C>T (p.Arg1497Cys) c.3164C>T c.4615C>T (p.Arg1539Cys) c.4594C>T (p.Arg1532Cys) c.4501C>T (p.Arg1501Cys) c.3055C>T (p.Arg1019Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933737G>C | CA371065720 | KAT6A | c.4483C>G (p.Arg1495Gly) c.4489C>G (p.Arg1497Gly) c.3164C>G c.4615C>G (p.Arg1539Gly) c.4594C>G (p.Arg1532Gly) c.4501C>G (p.Arg1501Gly) c.3055C>G (p.Arg1019Gly) | |
| 8 | g.41933737G= | CA1779196041 | KAT6A | c.4483C= (p.Arg1495=) c.4489C= (p.Arg1497=) c.3164C= c.4615C= (p.Arg1539=) c.4594C= (p.Arg1532=) c.4501C= (p.Arg1501=) c.3055C= (p.Arg1019=) | |
| 8 | g.41933737G>T | CA371065721 | KAT6A | c.4483C>A (p.Arg1495Ser) c.4489C>A (p.Arg1497Ser) c.3164C>A c.4615C>A (p.Arg1539Ser) c.4594C>A (p.Arg1532Ser) c.4501C>A (p.Arg1501Ser) c.3055C>A (p.Arg1019Ser) | |
| 8 | g.41933738G>A | CA460783805 | KAT6A | c.4482C>T (p.Val1494=) c.4488C>T (p.Val1496=) c.3163C>T c.4614C>T (p.Val1538=) c.4593C>T (p.Val1531=) c.4500C>T (p.Val1500=) c.3054C>T (p.Val1018=) | COSMIC |
| 8 | g.41933738G>C | CA460783803 | KAT6A | c.4482C>G (p.Val1494=) c.4488C>G (p.Val1496=) c.3163C>G c.4614C>G (p.Val1538=) c.4593C>G (p.Val1531=) c.4500C>G (p.Val1500=) c.3054C>G (p.Val1018=) | |
| 8 | g.41933738G>T | CA460783804 | KAT6A | c.4482C>A (p.Val1494=) c.4488C>A (p.Val1496=) c.3163C>A c.4614C>A (p.Val1538=) c.4593C>A (p.Val1531=) c.4500C>A (p.Val1500=) c.3054C>A (p.Val1018=) | |
| 8 | g.41933739A>C | CA371065722 | KAT6A | c.4481T>G (p.Val1494Gly) c.4487T>G (p.Val1496Gly) c.3162T>G c.4613T>G (p.Val1538Gly) c.4592T>G (p.Val1531Gly) c.4499T>G (p.Val1500Gly) c.3053T>G (p.Val1018Gly) | |
| 8 | g.41933739A>G | CA371065723 | KAT6A | c.4481T>C (p.Val1494Ala) c.4487T>C (p.Val1496Ala) c.3162T>C c.4613T>C (p.Val1538Ala) c.4592T>C (p.Val1531Ala) c.4499T>C (p.Val1500Ala) c.3053T>C (p.Val1018Ala) | |
| 8 | g.41933739A>T | CA371065724 | KAT6A | c.4481T>A (p.Val1494Asp) c.4487T>A (p.Val1496Asp) c.3162T>A c.4613T>A (p.Val1538Asp) c.4592T>A (p.Val1531Asp) c.4499T>A (p.Val1500Asp) c.3053T>A (p.Val1018Asp) | |
| 8 | g.41933740C>A | CA371065727 | KAT6A | c.4480G>T (p.Val1494Phe) c.4486G>T (p.Val1496Phe) c.3161G>T c.4612G>T (p.Val1538Phe) c.4591G>T (p.Val1531Phe) c.4498G>T (p.Val1500Phe) c.3052G>T (p.Val1018Phe) | |
| 8 | g.41933740C>G | CA371065726 | KAT6A | c.4480G>C (p.Val1494Leu) c.4486G>C (p.Val1496Leu) c.3161G>C c.4612G>C (p.Val1538Leu) c.4591G>C (p.Val1531Leu) c.4498G>C (p.Val1500Leu) c.3052G>C (p.Val1018Leu) | |
| 8 | g.41933740C>T | CA371065725 | KAT6A | c.4480G>A (p.Val1494Ile) c.4486G>A (p.Val1496Ile) c.3161G>A c.4612G>A (p.Val1538Ile) c.4591G>A (p.Val1531Ile) c.4498G>A (p.Val1500Ile) c.3052G>A (p.Val1018Ile) | |
| 8 | g.41933741T>A | CA460783807 | KAT6A | c.4479A>T (p.Ser1493=) c.4485A>T (p.Ser1495=) c.3160A>T c.4611A>T (p.Ser1537=) c.4590A>T (p.Ser1530=) c.4497A>T (p.Ser1499=) c.3051A>T (p.Ser1017=) | |
| 8 | g.41933741T>C | CA460783808 | KAT6A | c.4479A>G (p.Ser1493=) c.4485A>G (p.Ser1495=) c.3160A>G c.4611A>G (p.Ser1537=) c.4590A>G (p.Ser1530=) c.4497A>G (p.Ser1499=) c.3051A>G (p.Ser1017=) | |
| 8 | g.41933741T>G | CA460783809 | KAT6A | c.4479A>C (p.Ser1493=) c.4485A>C (p.Ser1495=) c.3160A>C c.4611A>C (p.Ser1537=) c.4590A>C (p.Ser1530=) c.4497A>C (p.Ser1499=) c.3051A>C (p.Ser1017=) | |
| 8 | g.41933742G>A | CA371065730 | KAT6A | c.4478C>T (p.Ser1493Leu) c.4484C>T (p.Ser1495Leu) c.3159C>T c.4610C>T (p.Ser1537Leu) c.4589C>T (p.Ser1530Leu) c.4496C>T (p.Ser1499Leu) c.3050C>T (p.Ser1017Leu) | |
| 8 | g.41933742G>C | CA371065728 | KAT6A | c.4478C>G (p.Ser1493Ter) c.4484C>G (p.Ser1495Ter) c.3159C>G c.4610C>G (p.Ser1537Ter) c.4589C>G (p.Ser1530Ter) c.4496C>G (p.Ser1499Ter) c.3050C>G (p.Ser1017Ter) | |
| 8 | g.41933742G>T | CA371065729 | KAT6A | c.4478C>A (p.Ser1493Ter) c.4484C>A (p.Ser1495Ter) c.3159C>A c.4610C>A (p.Ser1537Ter) c.4589C>A (p.Ser1530Ter) c.4496C>A (p.Ser1499Ter) c.3050C>A (p.Ser1017Ter) | |
| 8 | g.41933743A>C | CA371065731 | KAT6A | c.4477T>G (p.Ser1493Ala) c.4483T>G (p.Ser1495Ala) c.3158T>G c.4609T>G (p.Ser1537Ala) c.4588T>G (p.Ser1530Ala) c.4495T>G (p.Ser1499Ala) c.3049T>G (p.Ser1017Ala) | gnomAD v4 |
| 8 | g.41933743A>G | CA371065732 | KAT6A | c.4477T>C (p.Ser1493Pro) c.4483T>C (p.Ser1495Pro) c.3158T>C c.4609T>C (p.Ser1537Pro) c.4588T>C (p.Ser1530Pro) c.4495T>C (p.Ser1499Pro) c.3049T>C (p.Ser1017Pro) | gnomAD v4 |
| 8 | g.41933743A>T | CA371065733 | KAT6A | c.4477T>A (p.Ser1493Thr) c.4483T>A (p.Ser1495Thr) c.3158T>A c.4609T>A (p.Ser1537Thr) c.4588T>A (p.Ser1530Thr) c.4495T>A (p.Ser1499Thr) c.3049T>A (p.Ser1017Thr) | |
| 8 | g.41933744C>A | CA371065734 | KAT6A | c.4476G>T (p.Gln1492His) c.4482G>T (p.Gln1494His) c.3157G>T c.4608G>T (p.Gln1536His) c.4587G>T (p.Gln1529His) c.4494G>T (p.Gln1498His) c.3048G>T (p.Gln1016His) | |
| 8 | g.41933744C>G | CA371065735 | KAT6A | c.4476G>C (p.Gln1492His) c.4482G>C (p.Gln1494His) c.3157G>C c.4608G>C (p.Gln1536His) c.4587G>C (p.Gln1529His) c.4494G>C (p.Gln1498His) c.3048G>C (p.Gln1016His) | |
| 8 | g.41933744C>T | CA460783818 | KAT6A | c.4476G>A (p.Gln1492=) c.4482G>A (p.Gln1494=) c.3157G>A c.4608G>A (p.Gln1536=) c.4587G>A (p.Gln1529=) c.4494G>A (p.Gln1498=) c.3048G>A (p.Gln1016=) | |
| 8 | g.41933745T>A | CA371065736 | KAT6A | c.4475A>T (p.Gln1492Leu) c.4481A>T (p.Gln1494Leu) c.3156A>T c.4607A>T (p.Gln1536Leu) c.4586A>T (p.Gln1529Leu) c.4493A>T (p.Gln1498Leu) c.3047A>T (p.Gln1016Leu) | |
| 8 | g.41933745T>C | CA4729474 | KAT6A | c.4475A>G (p.Gln1492Arg) c.4481A>G (p.Gln1494Arg) c.3156A>G c.4607A>G (p.Gln1536Arg) c.4586A>G (p.Gln1529Arg) c.4493A>G (p.Gln1498Arg) c.3047A>G (p.Gln1016Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933745T>G | CA371065737 | KAT6A | c.4475A>C (p.Gln1492Pro) c.4481A>C (p.Gln1494Pro) c.3156A>C c.4607A>C (p.Gln1536Pro) c.4586A>C (p.Gln1529Pro) c.4493A>C (p.Gln1498Pro) c.3047A>C (p.Gln1016Pro) | |
| 8 | g.41933745T= | CA1779196042 | KAT6A | c.4475A= (p.Gln1492=) c.4481A= (p.Gln1494=) c.3156A= c.4607A= (p.Gln1536=) c.4586A= (p.Gln1529=) c.4493A= (p.Gln1498=) c.3047A= (p.Gln1016=) | |
| 8 | g.41933746G>A | CA371065738 | KAT6A | c.4474C>T (p.Gln1492Ter) c.4480C>T (p.Gln1494Ter) c.3155C>T c.4606C>T (p.Gln1536Ter) c.4585C>T (p.Gln1529Ter) c.4492C>T (p.Gln1498Ter) c.3046C>T (p.Gln1016Ter) | |
| 8 | g.41933746G>C | CA371065739 | KAT6A | c.4474C>G (p.Gln1492Glu) c.4480C>G (p.Gln1494Glu) c.3155C>G c.4606C>G (p.Gln1536Glu) c.4585C>G (p.Gln1529Glu) c.4492C>G (p.Gln1498Glu) c.3046C>G (p.Gln1016Glu) | |
| 8 | g.41933746G>T | CA371065740 | KAT6A | c.4474C>A (p.Gln1492Lys) c.4480C>A (p.Gln1494Lys) c.3155C>A c.4606C>A (p.Gln1536Lys) c.4585C>A (p.Gln1529Lys) c.4492C>A (p.Gln1498Lys) c.3046C>A (p.Gln1016Lys) | |
| 8 | g.41933747G>A | CA460783825 | KAT6A | c.4473C>T (p.Ser1491=) c.4479C>T (p.Ser1493=) c.3154C>T c.4605C>T (p.Ser1535=) c.4584C>T (p.Ser1528=) c.4491C>T (p.Ser1497=) c.3045C>T (p.Ser1015=) | gnomAD v4 COSMIC |
| 8 | g.41933747G>C | CA371065742 | KAT6A | c.4473C>G (p.Ser1491Arg) c.4479C>G (p.Ser1493Arg) c.3154C>G c.4605C>G (p.Ser1535Arg) c.4584C>G (p.Ser1528Arg) c.4491C>G (p.Ser1497Arg) c.3045C>G (p.Ser1015Arg) | dbSNP gnomAD v4 |
| 8 | g.41933747G= | CA1779196043 | KAT6A | c.4473C= (p.Ser1491=) c.4479C= (p.Ser1493=) c.3154C= c.4605C= (p.Ser1535=) c.4584C= (p.Ser1528=) c.4491C= (p.Ser1497=) c.3045C= (p.Ser1015=) | |
| 8 | g.41933747G>T | CA371065741 | KAT6A | c.4473C>A (p.Ser1491Arg) c.4479C>A (p.Ser1493Arg) c.3154C>A c.4605C>A (p.Ser1535Arg) c.4584C>A (p.Ser1528Arg) c.4491C>A (p.Ser1497Arg) c.3045C>A (p.Ser1015Arg) | |
| 8 | g.41933748C>A | CA371065743 | KAT6A | c.4472G>T (p.Ser1491Ile) c.4478G>T (p.Ser1493Ile) c.3153G>T c.4604G>T (p.Ser1535Ile) c.4583G>T (p.Ser1528Ile) c.4490G>T (p.Ser1497Ile) c.3044G>T (p.Ser1015Ile) | gnomAD v4 |
| 8 | g.41933748C>G | CA371065744 | KAT6A | c.4472G>C (p.Ser1491Thr) c.4478G>C (p.Ser1493Thr) c.3153G>C c.4604G>C (p.Ser1535Thr) c.4583G>C (p.Ser1528Thr) c.4490G>C (p.Ser1497Thr) c.3044G>C (p.Ser1015Thr) | |
| 8 | g.41933748C>T | CA371065745 | KAT6A | c.4472G>A (p.Ser1491Asn) c.4478G>A (p.Ser1493Asn) c.3153G>A c.4604G>A (p.Ser1535Asn) c.4583G>A (p.Ser1528Asn) c.4490G>A (p.Ser1497Asn) c.3044G>A (p.Ser1015Asn) | gnomAD v4 |
| 8 | g.41933749T>A | CA371065746 | KAT6A | c.4471A>T (p.Ser1491Cys) c.4477A>T (p.Ser1493Cys) c.3152A>T c.4603A>T (p.Ser1535Cys) c.4582A>T (p.Ser1528Cys) c.4489A>T (p.Ser1497Cys) c.3043A>T (p.Ser1015Cys) | |
| 8 | g.41933749T>C | CA371065747 | KAT6A | c.4471A>G (p.Ser1491Gly) c.4477A>G (p.Ser1493Gly) c.3152A>G c.4603A>G (p.Ser1535Gly) c.4582A>G (p.Ser1528Gly) c.4489A>G (p.Ser1497Gly) c.3043A>G (p.Ser1015Gly) | dbSNP |
| 8 | g.41933749T>G | CA371065748 | KAT6A | c.4471A>C (p.Ser1491Arg) c.4477A>C (p.Ser1493Arg) c.3152A>C c.4603A>C (p.Ser1535Arg) c.4582A>C (p.Ser1528Arg) c.4489A>C (p.Ser1497Arg) c.3043A>C (p.Ser1015Arg) | |
| 8 | g.41933749T= | CA1779196044 | KAT6A | c.4471A= (p.Ser1491=) c.4477A= (p.Ser1493=) c.3152A= c.4603A= (p.Ser1535=) c.4582A= (p.Ser1528=) c.4489A= (p.Ser1497=) c.3043A= (p.Ser1015=) | |
| 8 | g.41933750G>A | CA175939366 | KAT6A | c.4470C>T (p.Pro1490=) c.4476C>T (p.Pro1492=) c.3151C>T c.4602C>T (p.Pro1534=) c.4581C>T (p.Pro1527=) c.4488C>T (p.Pro1496=) c.3042C>T (p.Pro1014=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933750G>C | CA460783834 | KAT6A | c.4470C>G (p.Pro1490=) c.4476C>G (p.Pro1492=) c.3151C>G c.4602C>G (p.Pro1534=) c.4581C>G (p.Pro1527=) c.4488C>G (p.Pro1496=) c.3042C>G (p.Pro1014=) | |
| 8 | g.41933750G= | CA1779196045 | KAT6A | c.4470C= (p.Pro1490=) c.4476C= (p.Pro1492=) c.3151C= c.4602C= (p.Pro1534=) c.4581C= (p.Pro1527=) c.4488C= (p.Pro1496=) c.3042C= (p.Pro1014=) | |
| 8 | g.41933750G>T | CA460783835 | KAT6A | c.4470C>A (p.Pro1490=) c.4476C>A (p.Pro1492=) c.3151C>A c.4602C>A (p.Pro1534=) c.4581C>A (p.Pro1527=) c.4488C>A (p.Pro1496=) c.3042C>A (p.Pro1014=) | |
| 8 | g.41933751G>A | CA371065749 | KAT6A | c.4469C>T (p.Pro1490Leu) c.4475C>T (p.Pro1492Leu) c.3150C>T c.4601C>T (p.Pro1534Leu) c.4580C>T (p.Pro1527Leu) c.4487C>T (p.Pro1496Leu) c.3041C>T (p.Pro1014Leu) | ClinVar |
| 8 | g.41933751G>C | CA371065750 | KAT6A | c.4469C>G (p.Pro1490Arg) c.4475C>G (p.Pro1492Arg) c.3150C>G c.4601C>G (p.Pro1534Arg) c.4580C>G (p.Pro1527Arg) c.4487C>G (p.Pro1496Arg) c.3041C>G (p.Pro1014Arg) | |
| 8 | g.41933751G>T | CA371065751 | KAT6A | c.4469C>A (p.Pro1490His) c.4475C>A (p.Pro1492His) c.3150C>A c.4601C>A (p.Pro1534His) c.4580C>A (p.Pro1527His) c.4487C>A (p.Pro1496His) c.3041C>A (p.Pro1014His) | |
| 8 | g.41933752G>A | CA371065752 | KAT6A | c.4468C>T (p.Pro1490Ser) c.4474C>T (p.Pro1492Ser) c.3149C>T c.4600C>T (p.Pro1534Ser) c.4579C>T (p.Pro1527Ser) c.4486C>T (p.Pro1496Ser) c.3040C>T (p.Pro1014Ser) | gnomAD v4 |
| 8 | g.41933752G>C | CA4729475 | KAT6A | c.4468C>G (p.Pro1490Ala) c.4474C>G (p.Pro1492Ala) c.3149C>G c.4600C>G (p.Pro1534Ala) c.4579C>G (p.Pro1527Ala) c.4486C>G (p.Pro1496Ala) c.3040C>G (p.Pro1014Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933752G= | CA1779196046 | KAT6A | c.4468C= (p.Pro1490=) c.4474C= (p.Pro1492=) c.3149C= c.4600C= (p.Pro1534=) c.4579C= (p.Pro1527=) c.4486C= (p.Pro1496=) c.3040C= (p.Pro1014=) | |
| 8 | g.41933752G>T | CA371065753 | KAT6A | c.4468C>A (p.Pro1490Thr) c.4474C>A (p.Pro1492Thr) c.3149C>A c.4600C>A (p.Pro1534Thr) c.4579C>A (p.Pro1527Thr) c.4486C>A (p.Pro1496Thr) c.3040C>A (p.Pro1014Thr) | |
| 8 | g.41933753G>A | CA460783844 | KAT6A | c.4467C>T (p.His1489=) c.4473C>T (p.His1491=) c.3148C>T c.4599C>T (p.His1533=) c.4578C>T (p.His1526=) c.4485C>T (p.His1495=) c.3039C>T (p.His1013=) | |
| 8 | g.41933753G>C | CA371065754 | KAT6A | c.4467C>G (p.His1489Gln) c.4473C>G (p.His1491Gln) c.3148C>G c.4599C>G (p.His1533Gln) c.4578C>G (p.His1526Gln) c.4485C>G (p.His1495Gln) c.3039C>G (p.His1013Gln) | |
| 8 | g.41933753G= | CA1779196047 | KAT6A | c.4467C= (p.His1489=) c.4473C= (p.His1491=) c.3148C= c.4599C= (p.His1533=) c.4578C= (p.His1526=) c.4485C= (p.His1495=) c.3039C= (p.His1013=) | |
| 8 | g.41933753G>T | CA4729476 | KAT6A | c.4467C>A (p.His1489Gln) c.4473C>A (p.His1491Gln) c.3148C>A c.4599C>A (p.His1533Gln) c.4578C>A (p.His1526Gln) c.4485C>A (p.His1495Gln) c.3039C>A (p.His1013Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933754T>A | CA371065755 | KAT6A | c.4466A>T (p.His1489Leu) c.4472A>T (p.His1491Leu) c.3147A>T c.4598A>T (p.His1533Leu) c.4577A>T (p.His1526Leu) c.4484A>T (p.His1495Leu) c.3038A>T (p.His1013Leu) | |
| 8 | g.41933754T>C | CA371065756 | KAT6A | c.4466A>G (p.His1489Arg) c.4472A>G (p.His1491Arg) c.3147A>G c.4598A>G (p.His1533Arg) c.4577A>G (p.His1526Arg) c.4484A>G (p.His1495Arg) c.3038A>G (p.His1013Arg) | |
| 8 | g.41933754T>G | CA4729477 | KAT6A | c.4466A>C (p.His1489Pro) c.4472A>C (p.His1491Pro) c.3147A>C c.4598A>C (p.His1533Pro) c.4577A>C (p.His1526Pro) c.4484A>C (p.His1495Pro) c.3038A>C (p.His1013Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933754T= | CA1779196048 | KAT6A | c.4466A= (p.His1489=) c.4472A= (p.His1491=) c.3147A= c.4598A= (p.His1533=) c.4577A= (p.His1526=) c.4484A= (p.His1495=) c.3038A= (p.His1013=) | |
| 8 | g.41933755G>A | CA175939370 | KAT6A | c.4465C>T (p.His1489Tyr) c.4471C>T (p.His1491Tyr) c.3146C>T c.4597C>T (p.His1533Tyr) c.4576C>T (p.His1526Tyr) c.4483C>T (p.His1495Tyr) c.3037C>T (p.His1013Tyr) | dbSNP gnomAD v4 |
| 8 | g.41933755G>C | CA371065758 | KAT6A | c.4465C>G (p.His1489Asp) c.4471C>G (p.His1491Asp) c.3146C>G c.4597C>G (p.His1533Asp) c.4576C>G (p.His1526Asp) c.4483C>G (p.His1495Asp) c.3037C>G (p.His1013Asp) | |
| 8 | g.41933755G= | CA1779196049 | KAT6A | c.4465C= (p.His1489=) c.4471C= (p.His1491=) c.3146C= c.4597C= (p.His1533=) c.4576C= (p.His1526=) c.4483C= (p.His1495=) c.3037C= (p.His1013=) | |
| 8 | g.41933755G>T | CA371065757 | KAT6A | c.4465C>A (p.His1489Asn) c.4471C>A (p.His1491Asn) c.3146C>A c.4597C>A (p.His1533Asn) c.4576C>A (p.His1526Asn) c.4483C>A (p.His1495Asn) c.3037C>A (p.His1013Asn) | |
| 8 | g.41933756A= | CA1779196050 | KAT6A | c.4464T= (p.Ser1488=) c.4470T= (p.Ser1490=) c.3145T= c.4596T= (p.Ser1532=) c.4575T= (p.Ser1525=) c.4482T= (p.Ser1494=) c.3036T= (p.Ser1012=) | |
| 8 | g.41933756A>C | CA460783258 | KAT6A | c.4464T>G (p.Ser1488=) c.4470T>G (p.Ser1490=) c.3145T>G c.4596T>G (p.Ser1532=) c.4575T>G (p.Ser1525=) c.4482T>G (p.Ser1494=) c.3036T>G (p.Ser1012=) | |
| 8 | g.41933756A>G | CA4729478 | KAT6A | c.4464T>C (p.Ser1488=) c.4470T>C (p.Ser1490=) c.3145T>C c.4596T>C (p.Ser1532=) c.4575T>C (p.Ser1525=) c.4482T>C (p.Ser1494=) c.3036T>C (p.Ser1012=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933756A>T | CA460783260 | KAT6A | c.4464T>A (p.Ser1488=) c.4470T>A (p.Ser1490=) c.3145T>A c.4596T>A (p.Ser1532=) c.4575T>A (p.Ser1525=) c.4482T>A (p.Ser1494=) c.3036T>A (p.Ser1012=) | |
| 8 | g.41933757G>A | CA371065759 | KAT6A | c.4463C>T (p.Ser1488Phe) c.4469C>T (p.Ser1490Phe) c.3144C>T c.4595C>T (p.Ser1532Phe) c.4574C>T (p.Ser1525Phe) c.4481C>T (p.Ser1494Phe) c.3035C>T (p.Ser1012Phe) | |
| 8 | g.41933757G>C | CA4729479 | KAT6A | c.4463C>G (p.Ser1488Cys) c.4469C>G (p.Ser1490Cys) c.3144C>G c.4595C>G (p.Ser1532Cys) c.4574C>G (p.Ser1525Cys) c.4481C>G (p.Ser1494Cys) c.3035C>G (p.Ser1012Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933757G= | CA1779196051 | KAT6A | c.4463C= (p.Ser1488=) c.4469C= (p.Ser1490=) c.3144C= c.4595C= (p.Ser1532=) c.4574C= (p.Ser1525=) c.4481C= (p.Ser1494=) c.3035C= (p.Ser1012=) | |
| 8 | g.41933757G>T | CA371065760 | KAT6A | c.4463C>A (p.Ser1488Tyr) c.4469C>A (p.Ser1490Tyr) c.3144C>A c.4595C>A (p.Ser1532Tyr) c.4574C>A (p.Ser1525Tyr) c.4481C>A (p.Ser1494Tyr) c.3035C>A (p.Ser1012Tyr) | |
| 8 | g.41933758A= | CA1779196052 | KAT6A | c.4462T= (p.Ser1488=) c.4468T= (p.Ser1490=) c.3143T= c.4594T= (p.Ser1532=) c.4573T= (p.Ser1525=) c.4480T= (p.Ser1494=) c.3034T= (p.Ser1012=) | |
| 8 | g.41933758A>C | CA371065761 | KAT6A | c.4462T>G (p.Ser1488Ala) c.4468T>G (p.Ser1490Ala) c.3143T>G c.4594T>G (p.Ser1532Ala) c.4573T>G (p.Ser1525Ala) c.4480T>G (p.Ser1494Ala) c.3034T>G (p.Ser1012Ala) | |
| 8 | g.41933758A>G | CA371065762 | KAT6A | c.4462T>C (p.Ser1488Pro) c.4468T>C (p.Ser1490Pro) c.3143T>C c.4594T>C (p.Ser1532Pro) c.4573T>C (p.Ser1525Pro) c.4480T>C (p.Ser1494Pro) c.3034T>C (p.Ser1012Pro) | dbSNP |
| 8 | g.41933758A>T | CA371065763 | KAT6A | c.4462T>A (p.Ser1488Thr) c.4468T>A (p.Ser1490Thr) c.3143T>A c.4594T>A (p.Ser1532Thr) c.4573T>A (p.Ser1525Thr) c.4480T>A (p.Ser1494Thr) c.3034T>A (p.Ser1012Thr) | gnomAD v4 |
| 8 | g.41933759C>A | CA371065764 | KAT6A | c.4461G>T (p.Gln1487His) c.4467G>T (p.Gln1489His) c.3142G>T c.4593G>T (p.Gln1531His) c.4572G>T (p.Gln1524His) c.4479G>T (p.Gln1493His) c.3033G>T (p.Gln1011His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933759C= | CA1779196053 | KAT6A | c.4461G= (p.Gln1487=) c.4467G= (p.Gln1489=) c.3142G= c.4593G= (p.Gln1531=) c.4572G= (p.Gln1524=) c.4479G= (p.Gln1493=) c.3033G= (p.Gln1011=) | |
| 8 | g.41933759C>G | CA371065765 | KAT6A | c.4461G>C (p.Gln1487His) c.4467G>C (p.Gln1489His) c.3142G>C c.4593G>C (p.Gln1531His) c.4572G>C (p.Gln1524His) c.4479G>C (p.Gln1493His) c.3033G>C (p.Gln1011His) | |
| 8 | g.41933759C>T | CA4729480 | KAT6A | c.4461G>A (p.Gln1487=) c.4467G>A (p.Gln1489=) c.3142G>A c.4593G>A (p.Gln1531=) c.4572G>A (p.Gln1524=) c.4479G>A (p.Gln1493=) c.3033G>A (p.Gln1011=) | dbSNP ExAC gnomAD v2 |
| 8 | g.41933760T>A | CA371065766 | KAT6A | c.4460A>T (p.Gln1487Leu) c.4466A>T (p.Gln1489Leu) c.3141A>T c.4592A>T (p.Gln1531Leu) c.4571A>T (p.Gln1524Leu) c.4478A>T (p.Gln1493Leu) c.3032A>T (p.Gln1011Leu) | gnomAD v4 |
| 8 | g.41933760T>C | CA371065767 | KAT6A | c.4460A>G (p.Gln1487Arg) c.4466A>G (p.Gln1489Arg) c.3141A>G c.4592A>G (p.Gln1531Arg) c.4571A>G (p.Gln1524Arg) c.4478A>G (p.Gln1493Arg) c.3032A>G (p.Gln1011Arg) | |
| 8 | g.41933760T>G | CA371065768 | KAT6A | c.4460A>C (p.Gln1487Pro) c.4466A>C (p.Gln1489Pro) c.3141A>C c.4592A>C (p.Gln1531Pro) c.4571A>C (p.Gln1524Pro) c.4478A>C (p.Gln1493Pro) c.3032A>C (p.Gln1011Pro) | |
| 8 | g.41933761G>A | CA371065769 | KAT6A | c.4459C>T (p.Gln1487Ter) c.4465C>T (p.Gln1489Ter) c.3140C>T c.4591C>T (p.Gln1531Ter) c.4570C>T (p.Gln1524Ter) c.4477C>T (p.Gln1493Ter) c.3031C>T (p.Gln1011Ter) | |
| 8 | g.41933761G>C | CA371065771 | KAT6A | c.4459C>G (p.Gln1487Glu) c.4465C>G (p.Gln1489Glu) c.3140C>G c.4591C>G (p.Gln1531Glu) c.4570C>G (p.Gln1524Glu) c.4477C>G (p.Gln1493Glu) c.3031C>G (p.Gln1011Glu) | |
| 8 | g.41933761G>T | CA371065770 | KAT6A | c.4459C>A (p.Gln1487Lys) c.4465C>A (p.Gln1489Lys) c.3140C>A c.4591C>A (p.Gln1531Lys) c.4570C>A (p.Gln1524Lys) c.4477C>A (p.Gln1493Lys) c.3031C>A (p.Gln1011Lys) | |
| 8 | g.41933762A>C | CA460783265 | KAT6A | c.4458T>G (p.Val1486=) c.4464T>G (p.Val1488=) c.3139T>G c.4590T>G (p.Val1530=) c.4569T>G (p.Val1523=) c.4476T>G (p.Val1492=) c.3030T>G (p.Val1010=) | |
| 8 | g.41933762A>G | CA460783267 | KAT6A | c.4458T>C (p.Val1486=) c.4464T>C (p.Val1488=) c.3139T>C c.4590T>C (p.Val1530=) c.4569T>C (p.Val1523=) c.4476T>C (p.Val1492=) c.3030T>C (p.Val1010=) | |
| 8 | g.41933762A>T | CA460783268 | KAT6A | c.4458T>A (p.Val1486=) c.4464T>A (p.Val1488=) c.3139T>A c.4590T>A (p.Val1530=) c.4569T>A (p.Val1523=) c.4476T>A (p.Val1492=) c.3030T>A (p.Val1010=) | |
| 8 | g.41933763A>C | CA371065772 | KAT6A | c.4457T>G (p.Val1486Gly) c.4463T>G (p.Val1488Gly) c.3138T>G c.4589T>G (p.Val1530Gly) c.4568T>G (p.Val1523Gly) c.4475T>G (p.Val1492Gly) c.3029T>G (p.Val1010Gly) | |
| 8 | g.41933763A>G | CA371065773 | KAT6A | c.4457T>C (p.Val1486Ala) c.4463T>C (p.Val1488Ala) c.3138T>C c.4589T>C (p.Val1530Ala) c.4568T>C (p.Val1523Ala) c.4475T>C (p.Val1492Ala) c.3029T>C (p.Val1010Ala) | |
| 8 | g.41933763A>T | CA371065774 | KAT6A | c.4457T>A (p.Val1486Asp) c.4463T>A (p.Val1488Asp) c.3138T>A c.4589T>A (p.Val1530Asp) c.4568T>A (p.Val1523Asp) c.4475T>A (p.Val1492Asp) c.3029T>A (p.Val1010Asp) | |
| 8 | g.41933764C>A | CA371065775 | KAT6A | c.4456G>T (p.Val1486Phe) c.4462G>T (p.Val1488Phe) c.3137G>T c.4588G>T (p.Val1530Phe) c.4567G>T (p.Val1523Phe) c.4474G>T (p.Val1492Phe) c.3028G>T (p.Val1010Phe) | |
| 8 | g.41933764C= | CA1779196054 | KAT6A | c.4456G= (p.Val1486=) c.4462G= (p.Val1488=) c.3137G= c.4588G= (p.Val1530=) c.4567G= (p.Val1523=) c.4474G= (p.Val1492=) c.3028G= (p.Val1010=) | |
| 8 | g.41933764C>G | CA371065776 | KAT6A | c.4456G>C (p.Val1486Leu) c.4462G>C (p.Val1488Leu) c.3137G>C c.4588G>C (p.Val1530Leu) c.4567G>C (p.Val1523Leu) c.4474G>C (p.Val1492Leu) c.3028G>C (p.Val1010Leu) | gnomAD v4 |
| 8 | g.41933764C>T | CA4729481 | KAT6A | c.4456G>A (p.Val1486Ile) c.4462G>A (p.Val1488Ile) c.3137G>A c.4588G>A (p.Val1530Ile) c.4567G>A (p.Val1523Ile) c.4474G>A (p.Val1492Ile) c.3028G>A (p.Val1010Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933765G>A | CA4729482 | KAT6A | c.4455C>T (p.Ser1485=) c.4461C>T (p.Ser1487=) c.3136C>T c.4587C>T (p.Ser1529=) c.4566C>T (p.Ser1522=) c.4473C>T (p.Ser1491=) c.3027C>T (p.Ser1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933765G>C | CA460783274 | KAT6A | c.4455C>G (p.Ser1485=) c.4461C>G (p.Ser1487=) c.3136C>G c.4587C>G (p.Ser1529=) c.4566C>G (p.Ser1522=) c.4473C>G (p.Ser1491=) c.3027C>G (p.Ser1009=) | |
| 8 | g.41933765G= | CA1779196055 | KAT6A | c.4455C= (p.Ser1485=) c.4461C= (p.Ser1487=) c.3136C= c.4587C= (p.Ser1529=) c.4566C= (p.Ser1522=) c.4473C= (p.Ser1491=) c.3027C= (p.Ser1009=) | |
| 8 | g.41933765G>T | CA460783273 | KAT6A | c.4455C>A (p.Ser1485=) c.4461C>A (p.Ser1487=) c.3136C>A c.4587C>A (p.Ser1529=) c.4566C>A (p.Ser1522=) c.4473C>A (p.Ser1491=) c.3027C>A (p.Ser1009=) | gnomAD v4 |
| 8 | g.41933769_41933771del | CA2687076952 | KAT6A | c.4453_4455del (p.Ser1485del) c.4459_4461del (p.Ser1487del) c.3134_3136del c.4585_4587del (p.Ser1529del) c.4564_4566del (p.Ser1522del) c.4471_4473del (p.Ser1491del) c.3025_3027del (p.Ser1009del) | gnomAD v4 |
| 8 | g.41933766G>A | CA371065777 | KAT6A | c.4454C>T (p.Ser1485Phe) c.4460C>T (p.Ser1487Phe) c.3135C>T c.4586C>T (p.Ser1529Phe) c.4565C>T (p.Ser1522Phe) c.4472C>T (p.Ser1491Phe) c.3026C>T (p.Ser1009Phe) | COSMIC |
| 8 | g.41933766G>C | CA371065778 | KAT6A | c.4454C>G (p.Ser1485Cys) c.4460C>G (p.Ser1487Cys) c.3135C>G c.4586C>G (p.Ser1529Cys) c.4565C>G (p.Ser1522Cys) c.4472C>G (p.Ser1491Cys) c.3026C>G (p.Ser1009Cys) | |
| 8 | g.41933766G>T | CA371065779 | KAT6A | c.4454C>A (p.Ser1485Tyr) c.4460C>A (p.Ser1487Tyr) c.3135C>A c.4586C>A (p.Ser1529Tyr) c.4565C>A (p.Ser1522Tyr) c.4472C>A (p.Ser1491Tyr) c.3026C>A (p.Ser1009Tyr) | |
| 8 | g.41933767A>C | CA371065782 | KAT6A | c.4453T>G (p.Ser1485Ala) c.4459T>G (p.Ser1487Ala) c.3134T>G c.4585T>G (p.Ser1529Ala) c.4564T>G (p.Ser1522Ala) c.4471T>G (p.Ser1491Ala) c.3025T>G (p.Ser1009Ala) | |
| 8 | g.41933767A>G | CA371065781 | KAT6A | c.4453T>C (p.Ser1485Pro) c.4459T>C (p.Ser1487Pro) c.3134T>C c.4585T>C (p.Ser1529Pro) c.4564T>C (p.Ser1522Pro) c.4471T>C (p.Ser1491Pro) c.3025T>C (p.Ser1009Pro) | |
| 8 | g.41933767A>T | CA371065780 | KAT6A | c.4453T>A (p.Ser1485Thr) c.4459T>A (p.Ser1487Thr) c.3134T>A c.4585T>A (p.Ser1529Thr) c.4564T>A (p.Ser1522Thr) c.4471T>A (p.Ser1491Thr) c.3025T>A (p.Ser1009Thr) | gnomAD v4 |
| 8 | g.41933768G>A | CA460783281 | KAT6A | c.4452C>T (p.Ser1484=) c.4458C>T (p.Ser1486=) c.3133C>T c.4584C>T (p.Ser1528=) c.4563C>T (p.Ser1521=) c.4470C>T (p.Ser1490=) c.3024C>T (p.Ser1008=) | |
| 8 | g.41933768G>C | CA460783283 | KAT6A | c.4452C>G (p.Ser1484=) c.4458C>G (p.Ser1486=) c.3133C>G c.4584C>G (p.Ser1528=) c.4563C>G (p.Ser1521=) c.4470C>G (p.Ser1490=) c.3024C>G (p.Ser1008=) | dbSNP |
| 8 | g.41933768G= | CA1779196056 | KAT6A | c.4452C= (p.Ser1484=) c.4458C= (p.Ser1486=) c.3133C= c.4584C= (p.Ser1528=) c.4563C= (p.Ser1521=) c.4470C= (p.Ser1490=) c.3024C= (p.Ser1008=) | |
| 8 | g.41933768G>T | CA460783284 | KAT6A | c.4452C>A (p.Ser1484=) c.4458C>A (p.Ser1486=) c.3133C>A c.4584C>A (p.Ser1528=) c.4563C>A (p.Ser1521=) c.4470C>A (p.Ser1490=) c.3024C>A (p.Ser1008=) | |
| 8 | g.41933769G>A | CA4729483 | KAT6A | c.4451C>T (p.Ser1484Phe) c.4457C>T (p.Ser1486Phe) c.3132C>T c.4583C>T (p.Ser1528Phe) c.4562C>T (p.Ser1521Phe) c.4469C>T (p.Ser1490Phe) c.3023C>T (p.Ser1008Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933769G>C | CA371065783 | KAT6A | c.4451C>G (p.Ser1484Cys) c.4457C>G (p.Ser1486Cys) c.3132C>G c.4583C>G (p.Ser1528Cys) c.4562C>G (p.Ser1521Cys) c.4469C>G (p.Ser1490Cys) c.3023C>G (p.Ser1008Cys) | gnomAD v4 |
| 8 | g.41933769G= | CA1779196057 | KAT6A | c.4451C= (p.Ser1484=) c.4457C= (p.Ser1486=) c.3132C= c.4583C= (p.Ser1528=) c.4562C= (p.Ser1521=) c.4469C= (p.Ser1490=) c.3023C= (p.Ser1008=) | |
| 8 | g.41933769G>T | CA371065784 | KAT6A | c.4451C>A (p.Ser1484Tyr) c.4457C>A (p.Ser1486Tyr) c.3132C>A c.4583C>A (p.Ser1528Tyr) c.4562C>A (p.Ser1521Tyr) c.4469C>A (p.Ser1490Tyr) c.3023C>A (p.Ser1008Tyr) | |
| 8 | g.41933770A= | CA1779196058 | KAT6A | c.4450T= (p.Ser1484=) c.4456T= (p.Ser1486=) c.3131T= c.4582T= (p.Ser1528=) c.4561T= (p.Ser1521=) c.4468T= (p.Ser1490=) c.3022T= (p.Ser1008=) | |
| 8 | g.41933770A>C | CA371065785 | KAT6A | c.4450T>G (p.Ser1484Ala) c.4456T>G (p.Ser1486Ala) c.3131T>G c.4582T>G (p.Ser1528Ala) c.4561T>G (p.Ser1521Ala) c.4468T>G (p.Ser1490Ala) c.3022T>G (p.Ser1008Ala) | |
| 8 | g.41933770A>G | CA371065786 | KAT6A | c.4450T>C (p.Ser1484Pro) c.4456T>C (p.Ser1486Pro) c.3131T>C c.4582T>C (p.Ser1528Pro) c.4561T>C (p.Ser1521Pro) c.4468T>C (p.Ser1490Pro) c.3022T>C (p.Ser1008Pro) | dbSNP |
| 8 | g.41933770A>T | CA371065787 | KAT6A | c.4450T>A (p.Ser1484Thr) c.4456T>A (p.Ser1486Thr) c.3131T>A c.4582T>A (p.Ser1528Thr) c.4561T>A (p.Ser1521Thr) c.4468T>A (p.Ser1490Thr) c.3022T>A (p.Ser1008Thr) | |
| 8 | g.41933771G>A | CA460783292 | KAT6A | c.4449C>T (p.Ile1483=) c.4455C>T (p.Ile1485=) c.3130C>T c.4581C>T (p.Ile1527=) c.4560C>T (p.Ile1520=) c.4467C>T (p.Ile1489=) c.3021C>T (p.Ile1007=) | |
| 8 | g.41933771G>C | CA371065788 | KAT6A | c.4449C>G (p.Ile1483Met) c.4455C>G (p.Ile1485Met) c.3130C>G c.4581C>G (p.Ile1527Met) c.4560C>G (p.Ile1520Met) c.4467C>G (p.Ile1489Met) c.3021C>G (p.Ile1007Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933771G= | CA1779196059 | KAT6A | c.4449C= (p.Ile1483=) c.4455C= (p.Ile1485=) c.3130C= c.4581C= (p.Ile1527=) c.4560C= (p.Ile1520=) c.4467C= (p.Ile1489=) c.3021C= (p.Ile1007=) | |
| 8 | g.41933771G>T | CA460783289 | KAT6A | c.4449C>A (p.Ile1483=) c.4455C>A (p.Ile1485=) c.3130C>A c.4581C>A (p.Ile1527=) c.4560C>A (p.Ile1520=) c.4467C>A (p.Ile1489=) c.3021C>A (p.Ile1007=) | gnomAD v4 |
| 8 | g.41933772A>C | CA371065789 | KAT6A | c.4448T>G (p.Ile1483Ser) c.4454T>G (p.Ile1485Ser) c.3129T>G c.4580T>G (p.Ile1527Ser) c.4559T>G (p.Ile1520Ser) c.4466T>G (p.Ile1489Ser) c.3020T>G (p.Ile1007Ser) | |
| 8 | g.41933772A>G | CA371065790 | KAT6A | c.4448T>C (p.Ile1483Thr) c.4454T>C (p.Ile1485Thr) c.3129T>C c.4580T>C (p.Ile1527Thr) c.4559T>C (p.Ile1520Thr) c.4466T>C (p.Ile1489Thr) c.3020T>C (p.Ile1007Thr) | |
| 8 | g.41933772A>T | CA371065791 | KAT6A | c.4448T>A (p.Ile1483Asn) c.4454T>A (p.Ile1485Asn) c.3129T>A c.4580T>A (p.Ile1527Asn) c.4559T>A (p.Ile1520Asn) c.4466T>A (p.Ile1489Asn) c.3020T>A (p.Ile1007Asn) | |
| 8 | g.41933773T>A | CA371065792 | KAT6A | c.4447A>T (p.Ile1483Phe) c.4453A>T (p.Ile1485Phe) c.3128A>T c.4579A>T (p.Ile1527Phe) c.4558A>T (p.Ile1520Phe) c.4465A>T (p.Ile1489Phe) c.3019A>T (p.Ile1007Phe) | |
| 8 | g.41933773T>C | CA4729484 | KAT6A | c.4447A>G (p.Ile1483Val) c.4453A>G (p.Ile1485Val) c.3128A>G c.4579A>G (p.Ile1527Val) c.4558A>G (p.Ile1520Val) c.4465A>G (p.Ile1489Val) c.3019A>G (p.Ile1007Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933773T>G | CA371065793 | KAT6A | c.4447A>C (p.Ile1483Leu) c.4453A>C (p.Ile1485Leu) c.3128A>C c.4579A>C (p.Ile1527Leu) c.4558A>C (p.Ile1520Leu) c.4465A>C (p.Ile1489Leu) c.3019A>C (p.Ile1007Leu) | |
| 8 | g.41933773T= | CA1779196060 | KAT6A | c.4447A= (p.Ile1483=) c.4453A= (p.Ile1485=) c.3128A= c.4579A= (p.Ile1527=) c.4558A= (p.Ile1520=) c.4465A= (p.Ile1489=) c.3019A= (p.Ile1007=) | |
| 8 | g.41933774A= | CA1779196061 | KAT6A | c.4446T= (p.Pro1482=) c.4452T= (p.Pro1484=) c.3127T= c.4578T= (p.Pro1526=) c.4557T= (p.Pro1519=) c.4464T= (p.Pro1488=) c.3018T= (p.Pro1006=) | |
| 8 | g.41933774A>C | CA460783295 | KAT6A | c.4446T>G (p.Pro1482=) c.4452T>G (p.Pro1484=) c.3127T>G c.4578T>G (p.Pro1526=) c.4557T>G (p.Pro1519=) c.4464T>G (p.Pro1488=) c.3018T>G (p.Pro1006=) | |
| 8 | g.41933774A>G | CA175939384 | KAT6A | c.4446T>C (p.Pro1482=) c.4452T>C (p.Pro1484=) c.3127T>C c.4578T>C (p.Pro1526=) c.4557T>C (p.Pro1519=) c.4464T>C (p.Pro1488=) c.3018T>C (p.Pro1006=) | dbSNP gnomAD v4 |
| 8 | g.41933774A>T | CA460783297 | KAT6A | c.4446T>A (p.Pro1482=) c.4452T>A (p.Pro1484=) c.3127T>A c.4578T>A (p.Pro1526=) c.4557T>A (p.Pro1519=) c.4464T>A (p.Pro1488=) c.3018T>A (p.Pro1006=) | |
| 8 | g.41933775G>A | CA371065796 | KAT6A | c.4445C>T (p.Pro1482Leu) c.4451C>T (p.Pro1484Leu) c.3126C>T c.4577C>T (p.Pro1526Leu) c.4556C>T (p.Pro1519Leu) c.4463C>T (p.Pro1488Leu) c.3017C>T (p.Pro1006Leu) | ClinVar dbSNP |
| 8 | g.41933775G>C | CA371065794 | KAT6A | c.4445C>G (p.Pro1482Arg) c.4451C>G (p.Pro1484Arg) c.3126C>G c.4577C>G (p.Pro1526Arg) c.4556C>G (p.Pro1519Arg) c.4463C>G (p.Pro1488Arg) c.3017C>G (p.Pro1006Arg) | |
| 8 | g.41933775G= | CA1779196062 | KAT6A | c.4445C= (p.Pro1482=) c.4451C= (p.Pro1484=) c.3126C= c.4577C= (p.Pro1526=) c.4556C= (p.Pro1519=) c.4463C= (p.Pro1488=) c.3017C= (p.Pro1006=) | |
| 8 | g.41933775G>T | CA371065795 | KAT6A | c.4445C>A (p.Pro1482His) c.4451C>A (p.Pro1484His) c.3126C>A c.4577C>A (p.Pro1526His) c.4556C>A (p.Pro1519His) c.4463C>A (p.Pro1488His) c.3017C>A (p.Pro1006His) | |
| 8 | g.41933776G>A | CA4729485 | KAT6A | c.4444C>T (p.Pro1482Ser) c.4450C>T (p.Pro1484Ser) c.3125C>T c.4576C>T (p.Pro1526Ser) c.4555C>T (p.Pro1519Ser) c.4462C>T (p.Pro1488Ser) c.3016C>T (p.Pro1006Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933776G>C | CA371065797 | KAT6A | c.4444C>G (p.Pro1482Ala) c.4450C>G (p.Pro1484Ala) c.3125C>G c.4576C>G (p.Pro1526Ala) c.4555C>G (p.Pro1519Ala) c.4462C>G (p.Pro1488Ala) c.3016C>G (p.Pro1006Ala) | |
| 8 | g.41933776G= | CA1779196063 | KAT6A | c.4444C= (p.Pro1482=) c.4450C= (p.Pro1484=) c.3125C= c.4576C= (p.Pro1526=) c.4555C= (p.Pro1519=) c.4462C= (p.Pro1488=) c.3016C= (p.Pro1006=) | |
| 8 | g.41933776G>T | CA371065798 | KAT6A | c.4444C>A (p.Pro1482Thr) c.4450C>A (p.Pro1484Thr) c.3125C>A c.4576C>A (p.Pro1526Thr) c.4555C>A (p.Pro1519Thr) c.4462C>A (p.Pro1488Thr) c.3016C>A (p.Pro1006Thr) | |
| 8 | g.41933777G>A | CA4729486 | KAT6A | c.4443C>T (p.Ser1481=) c.4449C>T (p.Ser1483=) c.3124C>T c.4575C>T (p.Ser1525=) c.4554C>T (p.Ser1518=) c.4461C>T (p.Ser1487=) c.3015C>T (p.Ser1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933777G>C | CA371065799 | KAT6A | c.4443C>G (p.Ser1481Arg) c.4449C>G (p.Ser1483Arg) c.3124C>G c.4575C>G (p.Ser1525Arg) c.4554C>G (p.Ser1518Arg) c.4461C>G (p.Ser1487Arg) c.3015C>G (p.Ser1005Arg) | |
| 8 | g.41933777G= | CA1779196064 | KAT6A | c.4443C= (p.Ser1481=) c.4449C= (p.Ser1483=) c.3124C= c.4575C= (p.Ser1525=) c.4554C= (p.Ser1518=) c.4461C= (p.Ser1487=) c.3015C= (p.Ser1005=) | |
| 8 | g.41933777G>T | CA175939385 | KAT6A | c.4443C>A (p.Ser1481Arg) c.4449C>A (p.Ser1483Arg) c.3124C>A c.4575C>A (p.Ser1525Arg) c.4554C>A (p.Ser1518Arg) c.4461C>A (p.Ser1487Arg) c.3015C>A (p.Ser1005Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933778C>A | CA4729487 | KAT6A | c.4442G>T (p.Ser1481Ile) c.4448G>T (p.Ser1483Ile) c.3123G>T c.4574G>T (p.Ser1525Ile) c.4553G>T (p.Ser1518Ile) c.4460G>T (p.Ser1487Ile) c.3014G>T (p.Ser1005Ile) | dbSNP ExAC gnomAD v2 |
| 8 | g.41933778C= | CA1779196065 | KAT6A | c.4442G= (p.Ser1481=) c.4448G= (p.Ser1483=) c.3123G= c.4574G= (p.Ser1525=) c.4553G= (p.Ser1518=) c.4460G= (p.Ser1487=) c.3014G= (p.Ser1005=) | |
| 8 | g.41933778C>G | CA371065800 | KAT6A | c.4442G>C (p.Ser1481Thr) c.4448G>C (p.Ser1483Thr) c.3123G>C c.4574G>C (p.Ser1525Thr) c.4553G>C (p.Ser1518Thr) c.4460G>C (p.Ser1487Thr) c.3014G>C (p.Ser1005Thr) | |
| 8 | g.41933778C>T | CA371065801 | KAT6A | c.4442G>A (p.Ser1481Asn) c.4448G>A (p.Ser1483Asn) c.3123G>A c.4574G>A (p.Ser1525Asn) c.4553G>A (p.Ser1518Asn) c.4460G>A (p.Ser1487Asn) c.3014G>A (p.Ser1005Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933779T>A | CA371065802 | KAT6A | c.4441A>T (p.Ser1481Cys) c.4447A>T (p.Ser1483Cys) c.3122A>T c.4573A>T (p.Ser1525Cys) c.4552A>T (p.Ser1518Cys) c.4459A>T (p.Ser1487Cys) c.3013A>T (p.Ser1005Cys) | |
| 8 | g.41933779T>C | CA371065803 | KAT6A | c.4441A>G (p.Ser1481Gly) c.4447A>G (p.Ser1483Gly) c.3122A>G c.4573A>G (p.Ser1525Gly) c.4552A>G (p.Ser1518Gly) c.4459A>G (p.Ser1487Gly) c.3013A>G (p.Ser1005Gly) | |
| 8 | g.41933779T>G | CA371065804 | KAT6A | c.4441A>C (p.Ser1481Arg) c.4447A>C (p.Ser1483Arg) c.3122A>C c.4573A>C (p.Ser1525Arg) c.4552A>C (p.Ser1518Arg) c.4459A>C (p.Ser1487Arg) c.3013A>C (p.Ser1005Arg) | |
| 8 | g.41933780A>C | CA371065805 | KAT6A | c.4440T>G (p.Asn1480Lys) c.4446T>G (p.Asn1482Lys) c.3121T>G c.4572T>G (p.Asn1524Lys) c.4551T>G (p.Asn1517Lys) c.4458T>G (p.Asn1486Lys) c.3012T>G (p.Asn1004Lys) | |
| 8 | g.41933780A>G | CA460783304 | KAT6A | c.4440T>C (p.Asn1480=) c.4446T>C (p.Asn1482=) c.3121T>C c.4572T>C (p.Asn1524=) c.4551T>C (p.Asn1517=) c.4458T>C (p.Asn1486=) c.3012T>C (p.Asn1004=) | |
| 8 | g.41933780A>T | CA371065806 | KAT6A | c.4440T>A (p.Asn1480Lys) c.4446T>A (p.Asn1482Lys) c.3121T>A c.4572T>A (p.Asn1524Lys) c.4551T>A (p.Asn1517Lys) c.4458T>A (p.Asn1486Lys) c.3012T>A (p.Asn1004Lys) | |
| 8 | g.41933781T>A | CA371065807 | KAT6A | c.4439A>T (p.Asn1480Ile) c.4445A>T (p.Asn1482Ile) c.3120A>T c.4571A>T (p.Asn1524Ile) c.4550A>T (p.Asn1517Ile) c.4457A>T (p.Asn1486Ile) c.3011A>T (p.Asn1004Ile) | |
| 8 | g.41933781T>C | CA371065809 | KAT6A | c.4439A>G (p.Asn1480Ser) c.4445A>G (p.Asn1482Ser) c.3120A>G c.4571A>G (p.Asn1524Ser) c.4550A>G (p.Asn1517Ser) c.4457A>G (p.Asn1486Ser) c.3011A>G (p.Asn1004Ser) | dbSNP gnomAD v4 |
| 8 | g.41933781T>G | CA371065808 | KAT6A | c.4439A>C (p.Asn1480Thr) c.4445A>C (p.Asn1482Thr) c.3120A>C c.4571A>C (p.Asn1524Thr) c.4550A>C (p.Asn1517Thr) c.4457A>C (p.Asn1486Thr) c.3011A>C (p.Asn1004Thr) | |
| 8 | g.41933781T= | CA1779196066 | KAT6A | c.4439A= (p.Asn1480=) c.4445A= (p.Asn1482=) c.3120A= c.4571A= (p.Asn1524=) c.4550A= (p.Asn1517=) c.4457A= (p.Asn1486=) c.3011A= (p.Asn1004=) | |
| 8 | g.41933782T>A | CA371065810 | KAT6A | c.4438A>T (p.Asn1480Tyr) c.4444A>T (p.Asn1482Tyr) c.3119A>T c.4570A>T (p.Asn1524Tyr) c.4549A>T (p.Asn1517Tyr) c.4456A>T (p.Asn1486Tyr) c.3010A>T (p.Asn1004Tyr) | |
| 8 | g.41933782T>C | CA371065812 | KAT6A | c.4438A>G (p.Asn1480Asp) c.4444A>G (p.Asn1482Asp) c.3119A>G c.4570A>G (p.Asn1524Asp) c.4549A>G (p.Asn1517Asp) c.4456A>G (p.Asn1486Asp) c.3010A>G (p.Asn1004Asp) | gnomAD v4 |
| 8 | g.41933782T>G | CA371065811 | KAT6A | c.4438A>C (p.Asn1480His) c.4444A>C (p.Asn1482His) c.3119A>C c.4570A>C (p.Asn1524His) c.4549A>C (p.Asn1517His) c.4456A>C (p.Asn1486His) c.3010A>C (p.Asn1004His) | |
| 8 | g.41933783A= | CA1779196067 | KAT6A | c.4437T= (p.His1479=) c.4443T= (p.His1481=) c.3118T= c.4569T= (p.His1523=) c.4548T= (p.His1516=) c.4455T= (p.His1485=) c.3009T= (p.His1003=) | |
| 8 | g.41933783A>C | CA371065813 | KAT6A | c.4437T>G (p.His1479Gln) c.4443T>G (p.His1481Gln) c.3118T>G c.4569T>G (p.His1523Gln) c.4548T>G (p.His1516Gln) c.4455T>G (p.His1485Gln) c.3009T>G (p.His1003Gln) | gnomAD v4 |
| 8 | g.41933783A>G | CA460783310 | KAT6A | c.4437T>C (p.His1479=) c.4443T>C (p.His1481=) c.3118T>C c.4569T>C (p.His1523=) c.4548T>C (p.His1516=) c.4455T>C (p.His1485=) c.3009T>C (p.His1003=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933783A>T | CA371065814 | KAT6A | c.4437T>A (p.His1479Gln) c.4443T>A (p.His1481Gln) c.3118T>A c.4569T>A (p.His1523Gln) c.4548T>A (p.His1516Gln) c.4455T>A (p.His1485Gln) c.3009T>A (p.His1003Gln) | |
| 8 | g.41933784T>A | CA371065815 | KAT6A | c.4436A>T (p.His1479Leu) c.4442A>T (p.His1481Leu) c.3117A>T c.4568A>T (p.His1523Leu) c.4547A>T (p.His1516Leu) c.4454A>T (p.His1485Leu) c.3008A>T (p.His1003Leu) | gnomAD v4 |
| 8 | g.41933784T>C | CA4729488 | KAT6A | c.4436A>G (p.His1479Arg) c.4442A>G (p.His1481Arg) c.3117A>G c.4568A>G (p.His1523Arg) c.4547A>G (p.His1516Arg) c.4454A>G (p.His1485Arg) c.3008A>G (p.His1003Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933784T>G | CA371065816 | KAT6A | c.4436A>C (p.His1479Pro) c.4442A>C (p.His1481Pro) c.3117A>C c.4568A>C (p.His1523Pro) c.4547A>C (p.His1516Pro) c.4454A>C (p.His1485Pro) c.3008A>C (p.His1003Pro) | |
| 8 | g.41933784T= | CA1779196068 | KAT6A | c.4436A= (p.His1479=) c.4442A= (p.His1481=) c.3117A= c.4568A= (p.His1523=) c.4547A= (p.His1516=) c.4454A= (p.His1485=) c.3008A= (p.His1003=) | |
| 8 | g.41933785G>A | CA371065817 | KAT6A | c.4435C>T (p.His1479Tyr) c.4441C>T (p.His1481Tyr) c.3116C>T c.4567C>T (p.His1523Tyr) c.4546C>T (p.His1516Tyr) c.4453C>T (p.His1485Tyr) c.3007C>T (p.His1003Tyr) | dbSNP |
| 8 | g.41933785G>C | CA371065818 | KAT6A | c.4435C>G (p.His1479Asp) c.4441C>G (p.His1481Asp) c.3116C>G c.4567C>G (p.His1523Asp) c.4546C>G (p.His1516Asp) c.4453C>G (p.His1485Asp) c.3007C>G (p.His1003Asp) | |
| 8 | g.41933785G= | CA1779196069 | KAT6A | c.4435C= (p.His1479=) c.4441C= (p.His1481=) c.3116C= c.4567C= (p.His1523=) c.4546C= (p.His1516=) c.4453C= (p.His1485=) c.3007C= (p.His1003=) | |
| 8 | g.41933785G>T | CA371065819 | KAT6A | c.4435C>A (p.His1479Asn) c.4441C>A (p.His1481Asn) c.3116C>A c.4567C>A (p.His1523Asn) c.4546C>A (p.His1516Asn) c.4453C>A (p.His1485Asn) c.3007C>A (p.His1003Asn) | |
| 8 | g.41933786T>A | CA371065820 | KAT6A | c.4434A>T (p.Glu1478Asp) c.4440A>T (p.Glu1480Asp) c.3115A>T c.4566A>T (p.Glu1522Asp) c.4545A>T (p.Glu1515Asp) c.4452A>T (p.Glu1484Asp) c.3006A>T (p.Glu1002Asp) | |
| 8 | g.41933786T>C | CA460783313 | KAT6A | c.4434A>G (p.Glu1478=) c.4440A>G (p.Glu1480=) c.3115A>G c.4566A>G (p.Glu1522=) c.4545A>G (p.Glu1515=) c.4452A>G (p.Glu1484=) c.3006A>G (p.Glu1002=) | |
| 8 | g.41933786T>G | CA371065821 | KAT6A | c.4434A>C (p.Glu1478Asp) c.4440A>C (p.Glu1480Asp) c.3115A>C c.4566A>C (p.Glu1522Asp) c.4545A>C (p.Glu1515Asp) c.4452A>C (p.Glu1484Asp) c.3006A>C (p.Glu1002Asp) | |
| 8 | g.41933787T>A | CA371065822 | KAT6A | c.4433A>T (p.Glu1478Val) c.4439A>T (p.Glu1480Val) c.3114A>T c.4565A>T (p.Glu1522Val) c.4544A>T (p.Glu1515Val) c.4451A>T (p.Glu1484Val) c.3005A>T (p.Glu1002Val) | |
| 8 | g.41933787T>C | CA371065823 | KAT6A | c.4433A>G (p.Glu1478Gly) c.4439A>G (p.Glu1480Gly) c.3114A>G c.4565A>G (p.Glu1522Gly) c.4544A>G (p.Glu1515Gly) c.4451A>G (p.Glu1484Gly) c.3005A>G (p.Glu1002Gly) | |
| 8 | g.41933787T>G | CA371065824 | KAT6A | c.4433A>C (p.Glu1478Ala) c.4439A>C (p.Glu1480Ala) c.3114A>C c.4565A>C (p.Glu1522Ala) c.4544A>C (p.Glu1515Ala) c.4451A>C (p.Glu1484Ala) c.3005A>C (p.Glu1002Ala) | |
| 8 | g.41933788C>A | CA371065827 | KAT6A | c.4432G>T (p.Glu1478Ter) c.4438G>T (p.Glu1480Ter) c.3113G>T c.4564G>T (p.Glu1522Ter) c.4543G>T (p.Glu1515Ter) c.4450G>T (p.Glu1484Ter) c.3004G>T (p.Glu1002Ter) | |
| 8 | g.41933788C>G | CA371065826 | KAT6A | c.4432G>C (p.Glu1478Gln) c.4438G>C (p.Glu1480Gln) c.3113G>C c.4564G>C (p.Glu1522Gln) c.4543G>C (p.Glu1515Gln) c.4450G>C (p.Glu1484Gln) c.3004G>C (p.Glu1002Gln) | |
| 8 | g.41933788C>T | CA371065825 | KAT6A | c.4432G>A (p.Glu1478Lys) c.4438G>A (p.Glu1480Lys) c.3113G>A c.4564G>A (p.Glu1522Lys) c.4543G>A (p.Glu1515Lys) c.4450G>A (p.Glu1484Lys) c.3004G>A (p.Glu1002Lys) | |
| 8 | g.41933789T>A | CA460783317 | KAT6A | c.4431A>T (p.Ser1477=) c.4437A>T (p.Ser1479=) c.3112A>T c.4563A>T (p.Ser1521=) c.4542A>T (p.Ser1514=) c.4449A>T (p.Ser1483=) c.3003A>T (p.Ser1001=) | |
| 8 | g.41933789T>C | CA175939394 | KAT6A | c.4431A>G (p.Ser1477=) c.4437A>G (p.Ser1479=) c.3112A>G c.4563A>G (p.Ser1521=) c.4542A>G (p.Ser1514=) c.4449A>G (p.Ser1483=) c.3003A>G (p.Ser1001=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933789T>G | CA460783319 | KAT6A | c.4431A>C (p.Ser1477=) c.4437A>C (p.Ser1479=) c.3112A>C c.4563A>C (p.Ser1521=) c.4542A>C (p.Ser1514=) c.4449A>C (p.Ser1483=) c.3003A>C (p.Ser1001=) | |
| 8 | g.41933789T= | CA1779196070 | KAT6A | c.4431A= (p.Ser1477=) c.4437A= (p.Ser1479=) c.3112A= c.4563A= (p.Ser1521=) c.4542A= (p.Ser1514=) c.4449A= (p.Ser1483=) c.3003A= (p.Ser1001=) | |
| 8 | g.41933790G>A | CA371065828 | KAT6A | c.4430C>T (p.Ser1477Leu) c.4436C>T (p.Ser1479Leu) c.3111C>T c.4562C>T (p.Ser1521Leu) c.4541C>T (p.Ser1514Leu) c.4448C>T (p.Ser1483Leu) c.3002C>T (p.Ser1001Leu) | ClinVar |
| 8 | g.41933790G>C | CA371065829 | KAT6A | c.4430C>G (p.Ser1477Ter) c.4436C>G (p.Ser1479Ter) c.3111C>G c.4562C>G (p.Ser1521Ter) c.4541C>G (p.Ser1514Ter) c.4448C>G (p.Ser1483Ter) c.3002C>G (p.Ser1001Ter) | |
| 8 | g.41933790G>T | CA371065830 | KAT6A | c.4430C>A (p.Ser1477Ter) c.4436C>A (p.Ser1479Ter) c.3111C>A c.4562C>A (p.Ser1521Ter) c.4541C>A (p.Ser1514Ter) c.4448C>A (p.Ser1483Ter) c.3002C>A (p.Ser1001Ter) | |
| 8 | g.41933791A>C | CA371065831 | KAT6A | c.4429T>G (p.Ser1477Ala) c.4435T>G (p.Ser1479Ala) c.3110T>G c.4561T>G (p.Ser1521Ala) c.4540T>G (p.Ser1514Ala) c.4447T>G (p.Ser1483Ala) c.3001T>G (p.Ser1001Ala) | |
| 8 | g.41933791A>G | CA371065832 | KAT6A | c.4429T>C (p.Ser1477Pro) c.4435T>C (p.Ser1479Pro) c.3110T>C c.4561T>C (p.Ser1521Pro) c.4540T>C (p.Ser1514Pro) c.4447T>C (p.Ser1483Pro) c.3001T>C (p.Ser1001Pro) | |
| 8 | g.41933791A>T | CA371065833 | KAT6A | c.4429T>A (p.Ser1477Thr) c.4435T>A (p.Ser1479Thr) c.3110T>A c.4561T>A (p.Ser1521Thr) c.4540T>A (p.Ser1514Thr) c.4447T>A (p.Ser1483Thr) c.3001T>A (p.Ser1001Thr) | |
| 8 | g.41933792C>A | CA460783321 | KAT6A | c.4428G>T (p.Ala1476=) c.4434G>T (p.Ala1478=) c.3109G>T c.4560G>T (p.Ala1520=) c.4539G>T (p.Ala1513=) c.4446G>T (p.Ala1482=) c.3000G>T (p.Ala1000=) | |
| 8 | g.41933792C= | CA1779196071 | KAT6A | c.4428G= (p.Ala1476=) c.4434G= (p.Ala1478=) c.3109G= c.4560G= (p.Ala1520=) c.4539G= (p.Ala1513=) c.4446G= (p.Ala1482=) c.3000G= (p.Ala1000=) | |
| 8 | g.41933792C>G | CA460783323 | KAT6A | c.4428G>C (p.Ala1476=) c.4434G>C (p.Ala1478=) c.3109G>C c.4560G>C (p.Ala1520=) c.4539G>C (p.Ala1513=) c.4446G>C (p.Ala1482=) c.3000G>C (p.Ala1000=) | gnomAD v4 |
| 8 | g.41933792C>T | CA4729489 | KAT6A | c.4428G>A (p.Ala1476=) c.4434G>A (p.Ala1478=) c.3109G>A c.4560G>A (p.Ala1520=) c.4539G>A (p.Ala1513=) c.4446G>A (p.Ala1482=) c.3000G>A (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933793G>A | CA4729490 | KAT6A | c.4427C>T (p.Ala1476Val) c.4433C>T (p.Ala1478Val) c.3108C>T c.4559C>T (p.Ala1520Val) c.4538C>T (p.Ala1513Val) c.4445C>T (p.Ala1482Val) c.2999C>T (p.Ala1000Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933793G>C | CA371065834 | KAT6A | c.4427C>G (p.Ala1476Gly) c.4433C>G (p.Ala1478Gly) c.3108C>G c.4559C>G (p.Ala1520Gly) c.4538C>G (p.Ala1513Gly) c.4445C>G (p.Ala1482Gly) c.2999C>G (p.Ala1000Gly) | |
| 8 | g.41933793G= | CA1779196072 | KAT6A | c.4427C= (p.Ala1476=) c.4433C= (p.Ala1478=) c.3108C= c.4559C= (p.Ala1520=) c.4538C= (p.Ala1513=) c.4445C= (p.Ala1482=) c.2999C= (p.Ala1000=) | |
| 8 | g.41933793G>T | CA175939403 | KAT6A | c.4427C>A (p.Ala1476Glu) c.4433C>A (p.Ala1478Glu) c.3108C>A c.4559C>A (p.Ala1520Glu) c.4538C>A (p.Ala1513Glu) c.4445C>A (p.Ala1482Glu) c.2999C>A (p.Ala1000Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933794C>A | CA371065837 | KAT6A | c.4426G>T (p.Ala1476Ser) c.4432G>T (p.Ala1478Ser) c.3107G>T c.4558G>T (p.Ala1520Ser) c.4537G>T (p.Ala1513Ser) c.4444G>T (p.Ala1482Ser) c.2998G>T (p.Ala1000Ser) | |
| 8 | g.41933794C>G | CA371065836 | KAT6A | c.4426G>C (p.Ala1476Pro) c.4432G>C (p.Ala1478Pro) c.3107G>C c.4558G>C (p.Ala1520Pro) c.4537G>C (p.Ala1513Pro) c.4444G>C (p.Ala1482Pro) c.2998G>C (p.Ala1000Pro) | |
| 8 | g.41933794C>T | CA371065835 | KAT6A | c.4426G>A (p.Ala1476Thr) c.4432G>A (p.Ala1478Thr) c.3107G>A c.4558G>A (p.Ala1520Thr) c.4537G>A (p.Ala1513Thr) c.4444G>A (p.Ala1482Thr) c.2998G>A (p.Ala1000Thr) | |
| 8 | g.41933795A= | CA1779196073 | KAT6A | c.4425T= (p.His1475=) c.4431T= (p.His1477=) c.3106T= c.4557T= (p.His1519=) c.4536T= (p.His1512=) c.4443T= (p.His1481=) c.2997T= (p.His999=) | |
| 8 | g.41933795A>C | CA371065838 | KAT6A | c.4425T>G (p.His1475Gln) c.4431T>G (p.His1477Gln) c.3106T>G c.4557T>G (p.His1519Gln) c.4536T>G (p.His1512Gln) c.4443T>G (p.His1481Gln) c.2997T>G (p.His999Gln) | |
| 8 | g.41933795A>G | CA460783326 | KAT6A | c.4425T>C (p.His1475=) c.4431T>C (p.His1477=) c.3106T>C c.4557T>C (p.His1519=) c.4536T>C (p.His1512=) c.4443T>C (p.His1481=) c.2997T>C (p.His999=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933795A>T | CA371065839 | KAT6A | c.4425T>A (p.His1475Gln) c.4431T>A (p.His1477Gln) c.3106T>A c.4557T>A (p.His1519Gln) c.4536T>A (p.His1512Gln) c.4443T>A (p.His1481Gln) c.2997T>A (p.His999Gln) | |
| 8 | g.41933796T>A | CA371065840 | KAT6A | c.4424A>T (p.His1475Leu) c.4430A>T (p.His1477Leu) c.3105A>T c.4556A>T (p.His1519Leu) c.4535A>T (p.His1512Leu) c.4442A>T (p.His1481Leu) c.2996A>T (p.His999Leu) | |
| 8 | g.41933796T>C | CA4729491 | KAT6A | c.4424A>G (p.His1475Arg) c.4430A>G (p.His1477Arg) c.3105A>G c.4556A>G (p.His1519Arg) c.4535A>G (p.His1512Arg) c.4442A>G (p.His1481Arg) c.2996A>G (p.His999Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933796T>G | CA371065841 | KAT6A | c.4424A>C (p.His1475Pro) c.4430A>C (p.His1477Pro) c.3105A>C c.4556A>C (p.His1519Pro) c.4535A>C (p.His1512Pro) c.4442A>C (p.His1481Pro) c.2996A>C (p.His999Pro) | |
| 8 | g.41933796T= | CA1779196074 | KAT6A | c.4424A= (p.His1475=) c.4430A= (p.His1477=) c.3105A= c.4556A= (p.His1519=) c.4535A= (p.His1512=) c.4442A= (p.His1481=) c.2996A= (p.His999=) | |
| 8 | g.41933797G>A | CA371065842 | KAT6A | c.4423C>T (p.His1475Tyr) c.4429C>T (p.His1477Tyr) c.3104C>T c.4555C>T (p.His1519Tyr) c.4534C>T (p.His1512Tyr) c.4441C>T (p.His1481Tyr) c.2995C>T (p.His999Tyr) | |
| 8 | g.41933797G>C | CA371065843 | KAT6A | c.4423C>G (p.His1475Asp) c.4429C>G (p.His1477Asp) c.3104C>G c.4555C>G (p.His1519Asp) c.4534C>G (p.His1512Asp) c.4441C>G (p.His1481Asp) c.2995C>G (p.His999Asp) | |
| 8 | g.41933797G>T | CA371065844 | KAT6A | c.4423C>A (p.His1475Asn) c.4429C>A (p.His1477Asn) c.3104C>A c.4555C>A (p.His1519Asn) c.4534C>A (p.His1512Asn) c.4441C>A (p.His1481Asn) c.2995C>A (p.His999Asn) | |
| 8 | g.41933798A>C | CA371065845 | KAT6A | c.4422T>G (p.Cys1474Trp) c.4428T>G (p.Cys1476Trp) c.3103T>G c.4554T>G (p.Cys1518Trp) c.4533T>G (p.Cys1511Trp) c.4440T>G (p.Cys1480Trp) c.2994T>G (p.Cys998Trp) | |
| 8 | g.41933798A>G | CA460783330 | KAT6A | c.4422T>C (p.Cys1474=) c.4428T>C (p.Cys1476=) c.3103T>C c.4554T>C (p.Cys1518=) c.4533T>C (p.Cys1511=) c.4440T>C (p.Cys1480=) c.2994T>C (p.Cys998=) | |
| 8 | g.41933798A>T | CA371065846 | KAT6A | c.4422T>A (p.Cys1474Ter) c.4428T>A (p.Cys1476Ter) c.3103T>A c.4554T>A (p.Cys1518Ter) c.4533T>A (p.Cys1511Ter) c.4440T>A (p.Cys1480Ter) c.2994T>A (p.Cys998Ter) | |
| 8 | g.41933799C>A | CA371065847 | KAT6A | c.4421G>T (p.Cys1474Phe) c.4427G>T (p.Cys1476Phe) c.3102G>T c.4553G>T (p.Cys1518Phe) c.4532G>T (p.Cys1511Phe) c.4439G>T (p.Cys1480Phe) c.2993G>T (p.Cys998Phe) | |
| 8 | g.41933799C>G | CA371065848 | KAT6A | c.4421G>C (p.Cys1474Ser) c.4427G>C (p.Cys1476Ser) c.3102G>C c.4553G>C (p.Cys1518Ser) c.4532G>C (p.Cys1511Ser) c.4439G>C (p.Cys1480Ser) c.2993G>C (p.Cys998Ser) | gnomAD v4 |
| 8 | g.41933799C>T | CA371065849 | KAT6A | c.4421G>A (p.Cys1474Tyr) c.4427G>A (p.Cys1476Tyr) c.3102G>A c.4553G>A (p.Cys1518Tyr) c.4532G>A (p.Cys1511Tyr) c.4439G>A (p.Cys1480Tyr) c.2993G>A (p.Cys998Tyr) | |
| 8 | g.41933800A= | CA1779196075 | KAT6A | c.4420T= (p.Cys1474=) c.4426T= (p.Cys1476=) c.3101T= c.4552T= (p.Cys1518=) c.4531T= (p.Cys1511=) c.4438T= (p.Cys1480=) c.2992T= (p.Cys998=) | |
| 8 | g.41933800A>C | CA371065850 | KAT6A | c.4420T>G (p.Cys1474Gly) c.4426T>G (p.Cys1476Gly) c.3101T>G c.4552T>G (p.Cys1518Gly) c.4531T>G (p.Cys1511Gly) c.4438T>G (p.Cys1480Gly) c.2992T>G (p.Cys998Gly) | |
| 8 | g.41933800A>G | CA371065852 | KAT6A | c.4420T>C (p.Cys1474Arg) c.4426T>C (p.Cys1476Arg) c.3101T>C c.4552T>C (p.Cys1518Arg) c.4531T>C (p.Cys1511Arg) c.4438T>C (p.Cys1480Arg) c.2992T>C (p.Cys998Arg) | |
| 8 | g.41933800A>T | CA371065851 | KAT6A | c.4420T>A (p.Cys1474Ser) c.4426T>A (p.Cys1476Ser) c.3101T>A c.4552T>A (p.Cys1518Ser) c.4531T>A (p.Cys1511Ser) c.4438T>A (p.Cys1480Ser) c.2992T>A (p.Cys998Ser) | ClinVar dbSNP |
| 8 | g.41933801G>A | CA460783336 | KAT6A | c.4419C>T (p.Asp1473=) c.4425C>T (p.Asp1475=) c.3100C>T c.4551C>T (p.Asp1517=) c.4530C>T (p.Asp1510=) c.4437C>T (p.Asp1479=) c.2991C>T (p.Asp997=) | |
| 8 | g.41933801G>C | CA371065853 | KAT6A | c.4419C>G (p.Asp1473Glu) c.4425C>G (p.Asp1475Glu) c.3100C>G c.4551C>G (p.Asp1517Glu) c.4530C>G (p.Asp1510Glu) c.4437C>G (p.Asp1479Glu) c.2991C>G (p.Asp997Glu) | |
| 8 | g.41933801G>T | CA371065854 | KAT6A | c.4419C>A (p.Asp1473Glu) c.4425C>A (p.Asp1475Glu) c.3100C>A c.4551C>A (p.Asp1517Glu) c.4530C>A (p.Asp1510Glu) c.4437C>A (p.Asp1479Glu) c.2991C>A (p.Asp997Glu) | |
| 8 | g.41933802T>A | CA371065855 | KAT6A | c.4418A>T (p.Asp1473Val) c.4424A>T (p.Asp1475Val) c.3099A>T c.4550A>T (p.Asp1517Val) c.4529A>T (p.Asp1510Val) c.4436A>T (p.Asp1479Val) c.2990A>T (p.Asp997Val) | |
| 8 | g.41933802T>C | CA371065856 | KAT6A | c.4418A>G (p.Asp1473Gly) c.4424A>G (p.Asp1475Gly) c.3099A>G c.4550A>G (p.Asp1517Gly) c.4529A>G (p.Asp1510Gly) c.4436A>G (p.Asp1479Gly) c.2990A>G (p.Asp997Gly) | |
| 8 | g.41933802T>G | CA371065857 | KAT6A | c.4418A>C (p.Asp1473Ala) c.4424A>C (p.Asp1475Ala) c.3099A>C c.4550A>C (p.Asp1517Ala) c.4529A>C (p.Asp1510Ala) c.4436A>C (p.Asp1479Ala) c.2990A>C (p.Asp997Ala) | |
| 8 | g.41933803C>A | CA371065858 | KAT6A | c.4417G>T (p.Asp1473Tyr) c.4423G>T (p.Asp1475Tyr) c.3098G>T c.4549G>T (p.Asp1517Tyr) c.4528G>T (p.Asp1510Tyr) c.4435G>T (p.Asp1479Tyr) c.2989G>T (p.Asp997Tyr) | |
| 8 | g.41933803C= | CA1779196076 | KAT6A | c.4417G= (p.Asp1473=) c.4423G= (p.Asp1475=) c.3098G= c.4549G= (p.Asp1517=) c.4528G= (p.Asp1510=) c.4435G= (p.Asp1479=) c.2989G= (p.Asp997=) | |
| 8 | g.41933803C>G | CA4729492 | KAT6A | c.4417G>C (p.Asp1473His) c.4423G>C (p.Asp1475His) c.3098G>C c.4549G>C (p.Asp1517His) c.4528G>C (p.Asp1510His) c.4435G>C (p.Asp1479His) c.2989G>C (p.Asp997His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933803C>T | CA371065859 | KAT6A | c.4417G>A (p.Asp1473Asn) c.4423G>A (p.Asp1475Asn) c.3098G>A c.4549G>A (p.Asp1517Asn) c.4528G>A (p.Asp1510Asn) c.4435G>A (p.Asp1479Asn) c.2989G>A (p.Asp997Asn) | |
| 8 | g.41933804T>A | CA4729493 | KAT6A | c.4416A>T (p.Glu1472Asp) c.4422A>T (p.Glu1474Asp) c.3097A>T c.4548A>T (p.Glu1516Asp) c.4527A>T (p.Glu1509Asp) c.4434A>T (p.Glu1478Asp) c.2988A>T (p.Glu996Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933804T>C | CA460783342 | KAT6A | c.4416A>G (p.Glu1472=) c.4422A>G (p.Glu1474=) c.3097A>G c.4548A>G (p.Glu1516=) c.4527A>G (p.Glu1509=) c.4434A>G (p.Glu1478=) c.2988A>G (p.Glu996=) | |
| 8 | g.41933804T>G | CA371065860 | KAT6A | c.4416A>C (p.Glu1472Asp) c.4422A>C (p.Glu1474Asp) c.3097A>C c.4548A>C (p.Glu1516Asp) c.4527A>C (p.Glu1509Asp) c.4434A>C (p.Glu1478Asp) c.2988A>C (p.Glu996Asp) | |
| 8 | g.41933804T= | CA1779196077 | KAT6A | c.4416A= (p.Glu1472=) c.4422A= (p.Glu1474=) c.3097A= c.4548A= (p.Glu1516=) c.4527A= (p.Glu1509=) c.4434A= (p.Glu1478=) c.2988A= (p.Glu996=) | |
| 8 | g.41933805T>A | CA371065862 | KAT6A | c.4415A>T (p.Glu1472Val) c.4421A>T (p.Glu1474Val) c.3096A>T c.4547A>T (p.Glu1516Val) c.4526A>T (p.Glu1509Val) c.4433A>T (p.Glu1478Val) c.2987A>T (p.Glu996Val) | |
| 8 | g.41933805T>C | CA371065863 | KAT6A | c.4415A>G (p.Glu1472Gly) c.4421A>G (p.Glu1474Gly) c.3096A>G c.4547A>G (p.Glu1516Gly) c.4526A>G (p.Glu1509Gly) c.4433A>G (p.Glu1478Gly) c.2987A>G (p.Glu996Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933805T>G | CA371065861 | KAT6A | c.4415A>C (p.Glu1472Ala) c.4421A>C (p.Glu1474Ala) c.3096A>C c.4547A>C (p.Glu1516Ala) c.4526A>C (p.Glu1509Ala) c.4433A>C (p.Glu1478Ala) c.2987A>C (p.Glu996Ala) | |
| 8 | g.41933805T= | CA1779196078 | KAT6A | c.4415A= (p.Glu1472=) c.4421A= (p.Glu1474=) c.3096A= c.4547A= (p.Glu1516=) c.4526A= (p.Glu1509=) c.4433A= (p.Glu1478=) c.2987A= (p.Glu996=) | |
| 8 | g.41933806C>A | CA371065864 | KAT6A | c.4414G>T (p.Glu1472Ter) c.4420G>T (p.Glu1474Ter) c.3095G>T c.4546G>T (p.Glu1516Ter) c.4525G>T (p.Glu1509Ter) c.4432G>T (p.Glu1478Ter) c.2986G>T (p.Glu996Ter) | |
| 8 | g.41933806C>G | CA371065865 | KAT6A | c.4414G>C (p.Glu1472Gln) c.4420G>C (p.Glu1474Gln) c.3095G>C c.4546G>C (p.Glu1516Gln) c.4525G>C (p.Glu1509Gln) c.4432G>C (p.Glu1478Gln) c.2986G>C (p.Glu996Gln) | |
| 8 | g.41933806C>T | CA371065866 | KAT6A | c.4414G>A (p.Glu1472Lys) c.4420G>A (p.Glu1474Lys) c.3095G>A c.4546G>A (p.Glu1516Lys) c.4525G>A (p.Glu1509Lys) c.4432G>A (p.Glu1478Lys) c.2986G>A (p.Glu996Lys) | gnomAD v4 |
| 8 | g.41933807A= | CA1779196079 | KAT6A | c.4413T= (p.Val1471=) c.4419T= (p.Val1473=) c.3094T= c.4545T= (p.Val1515=) c.4524T= (p.Val1508=) c.4431T= (p.Val1477=) c.2985T= (p.Val995=) | |
| 8 | g.41933807A>C | CA460783345 | KAT6A | c.4413T>G (p.Val1471=) c.4419T>G (p.Val1473=) c.3094T>G c.4545T>G (p.Val1515=) c.4524T>G (p.Val1508=) c.4431T>G (p.Val1477=) c.2985T>G (p.Val995=) | |
| 8 | g.41933807A>G | CA460783348 | KAT6A | c.4413T>C (p.Val1471=) c.4419T>C (p.Val1473=) c.3094T>C c.4545T>C (p.Val1515=) c.4524T>C (p.Val1508=) c.4431T>C (p.Val1477=) c.2985T>C (p.Val995=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933807A>T | CA460783350 | KAT6A | c.4413T>A (p.Val1471=) c.4419T>A (p.Val1473=) c.3094T>A c.4545T>A (p.Val1515=) c.4524T>A (p.Val1508=) c.4431T>A (p.Val1477=) c.2985T>A (p.Val995=) | |
| 8 | g.41933808A= | CA1779196080 | KAT6A | c.4412T= (p.Val1471=) c.4418T= (p.Val1473=) c.3093T= c.4544T= (p.Val1515=) c.4523T= (p.Val1508=) c.4430T= (p.Val1477=) c.2984T= (p.Val995=) | |
| 8 | g.41933808A>C | CA371065867 | KAT6A | c.4412T>G (p.Val1471Gly) c.4418T>G (p.Val1473Gly) c.3093T>G c.4544T>G (p.Val1515Gly) c.4523T>G (p.Val1508Gly) c.4430T>G (p.Val1477Gly) c.2984T>G (p.Val995Gly) | |
| 8 | g.41933808A>G | CA371065868 | KAT6A | c.4412T>C (p.Val1471Ala) c.4418T>C (p.Val1473Ala) c.3093T>C c.4544T>C (p.Val1515Ala) c.4523T>C (p.Val1508Ala) c.4430T>C (p.Val1477Ala) c.2984T>C (p.Val995Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933808A>T | CA371065869 | KAT6A | c.4412T>A (p.Val1471Asp) c.4418T>A (p.Val1473Asp) c.3093T>A c.4544T>A (p.Val1515Asp) c.4523T>A (p.Val1508Asp) c.4430T>A (p.Val1477Asp) c.2984T>A (p.Val995Asp) | |
| 8 | g.41933809C>A | CA371065872 | KAT6A | c.4411G>T (p.Val1471Phe) c.4417G>T (p.Val1473Phe) c.3092G>T c.4543G>T (p.Val1515Phe) c.4522G>T (p.Val1508Phe) c.4429G>T (p.Val1477Phe) c.2983G>T (p.Val995Phe) | |
| 8 | g.41933809C>G | CA371065870 | KAT6A | c.4411G>C (p.Val1471Leu) c.4417G>C (p.Val1473Leu) c.3092G>C c.4543G>C (p.Val1515Leu) c.4522G>C (p.Val1508Leu) c.4429G>C (p.Val1477Leu) c.2983G>C (p.Val995Leu) | |
| 8 | g.41933809C>T | CA371065871 | KAT6A | c.4411G>A (p.Val1471Ile) c.4417G>A (p.Val1473Ile) c.3092G>A c.4543G>A (p.Val1515Ile) c.4522G>A (p.Val1508Ile) c.4429G>A (p.Val1477Ile) c.2983G>A (p.Val995Ile) | gnomAD v4 |
| 8 | g.41933810C>A | CA371065873 | KAT6A | c.4410G>T (p.Met1470Ile) c.4416G>T (p.Met1472Ile) c.3091G>T c.4542G>T (p.Met1514Ile) c.4521G>T (p.Met1507Ile) c.4428G>T (p.Met1476Ile) c.2982G>T (p.Met994Ile) | |
| 8 | g.41933810C= | CA1779196081 | KAT6A | c.4410G= (p.Met1470=) c.4416G= (p.Met1472=) c.3091G= c.4542G= (p.Met1514=) c.4521G= (p.Met1507=) c.4428G= (p.Met1476=) c.2982G= (p.Met994=) | |
| 8 | g.41933810C>G | CA175939412 | KAT6A | c.4410G>C (p.Met1470Ile) c.4416G>C (p.Met1472Ile) c.3091G>C c.4542G>C (p.Met1514Ile) c.4521G>C (p.Met1507Ile) c.4428G>C (p.Met1476Ile) c.2982G>C (p.Met994Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933810C>T | CA371065874 | KAT6A | c.4410G>A (p.Met1470Ile) c.4416G>A (p.Met1472Ile) c.3091G>A c.4542G>A (p.Met1514Ile) c.4521G>A (p.Met1507Ile) c.4428G>A (p.Met1476Ile) c.2982G>A (p.Met994Ile) | |
| 8 | g.41933811A>C | CA371065875 | KAT6A | c.4409T>G (p.Met1470Arg) c.4415T>G (p.Met1472Arg) c.3090T>G c.4541T>G (p.Met1514Arg) c.4520T>G (p.Met1507Arg) c.4427T>G (p.Met1476Arg) c.2981T>G (p.Met994Arg) | |
| 8 | g.41933811A>G | CA371065876 | KAT6A | c.4409T>C (p.Met1470Thr) c.4415T>C (p.Met1472Thr) c.3090T>C c.4541T>C (p.Met1514Thr) c.4520T>C (p.Met1507Thr) c.4427T>C (p.Met1476Thr) c.2981T>C (p.Met994Thr) | |
| 8 | g.41933811A>T | CA371065877 | KAT6A | c.4409T>A (p.Met1470Lys) c.4415T>A (p.Met1472Lys) c.3090T>A c.4541T>A (p.Met1514Lys) c.4520T>A (p.Met1507Lys) c.4427T>A (p.Met1476Lys) c.2981T>A (p.Met994Lys) | |
| 8 | g.41933812T>A | CA371065878 | KAT6A | c.4408A>T (p.Met1470Leu) c.4414A>T (p.Met1472Leu) c.3089A>T c.4540A>T (p.Met1514Leu) c.4519A>T (p.Met1507Leu) c.4426A>T (p.Met1476Leu) c.2980A>T (p.Met994Leu) | |
| 8 | g.41933812T>C | CA371065880 | KAT6A | c.4408A>G (p.Met1470Val) c.4414A>G (p.Met1472Val) c.3089A>G c.4540A>G (p.Met1514Val) c.4519A>G (p.Met1507Val) c.4426A>G (p.Met1476Val) c.2980A>G (p.Met994Val) | dbSNP |
| 8 | g.41933812T>G | CA371065879 | KAT6A | c.4408A>C (p.Met1470Leu) c.4414A>C (p.Met1472Leu) c.3089A>C c.4540A>C (p.Met1514Leu) c.4519A>C (p.Met1507Leu) c.4426A>C (p.Met1476Leu) c.2980A>C (p.Met994Leu) | |
| 8 | g.41933812T= | CA1779196082 | KAT6A | c.4408A= (p.Met1470=) c.4414A= (p.Met1472=) c.3089A= c.4540A= (p.Met1514=) c.4519A= (p.Met1507=) c.4426A= (p.Met1476=) c.2980A= (p.Met994=) | |
| 8 | g.41933813G>A | CA460783363 | KAT6A | c.4407C>T (p.Ser1469=) c.4413C>T (p.Ser1471=) c.3088C>T c.4539C>T (p.Ser1513=) c.4518C>T (p.Ser1506=) c.4425C>T (p.Ser1475=) c.2979C>T (p.Ser993=) | |
| 8 | g.41933813G>C | CA460783365 | KAT6A | c.4407C>G (p.Ser1469=) c.4413C>G (p.Ser1471=) c.3088C>G c.4539C>G (p.Ser1513=) c.4518C>G (p.Ser1506=) c.4425C>G (p.Ser1475=) c.2979C>G (p.Ser993=) | |
| 8 | g.41933813G>T | CA460783367 | KAT6A | c.4407C>A (p.Ser1469=) c.4413C>A (p.Ser1471=) c.3088C>A c.4539C>A (p.Ser1513=) c.4518C>A (p.Ser1506=) c.4425C>A (p.Ser1475=) c.2979C>A (p.Ser993=) | |
| 8 | g.41933814G>A | CA371065881 | KAT6A | c.4406C>T (p.Ser1469Phe) c.4412C>T (p.Ser1471Phe) c.3087C>T c.4538C>T (p.Ser1513Phe) c.4517C>T (p.Ser1506Phe) c.4424C>T (p.Ser1475Phe) c.2978C>T (p.Ser993Phe) | |
| 8 | g.41933814G>C | CA371065882 | KAT6A | c.4406C>G (p.Ser1469Cys) c.4412C>G (p.Ser1471Cys) c.3087C>G c.4538C>G (p.Ser1513Cys) c.4517C>G (p.Ser1506Cys) c.4424C>G (p.Ser1475Cys) c.2978C>G (p.Ser993Cys) | |
| 8 | g.41933814G>T | CA371065883 | KAT6A | c.4406C>A (p.Ser1469Tyr) c.4412C>A (p.Ser1471Tyr) c.3087C>A c.4538C>A (p.Ser1513Tyr) c.4517C>A (p.Ser1506Tyr) c.4424C>A (p.Ser1475Tyr) c.2978C>A (p.Ser993Tyr) | |
| 8 | g.41933815A>C | CA371065884 | KAT6A | c.4405T>G (p.Ser1469Ala) c.4411T>G (p.Ser1471Ala) c.3086T>G c.4537T>G (p.Ser1513Ala) c.4516T>G (p.Ser1506Ala) c.4423T>G (p.Ser1475Ala) c.2977T>G (p.Ser993Ala) | |
| 8 | g.41933815A>G | CA371065885 | KAT6A | c.4405T>C (p.Ser1469Pro) c.4411T>C (p.Ser1471Pro) c.3086T>C c.4537T>C (p.Ser1513Pro) c.4516T>C (p.Ser1506Pro) c.4423T>C (p.Ser1475Pro) c.2977T>C (p.Ser993Pro) | |
| 8 | g.41933815A>T | CA371065886 | KAT6A | c.4405T>A (p.Ser1469Thr) c.4411T>A (p.Ser1471Thr) c.3086T>A c.4537T>A (p.Ser1513Thr) c.4516T>A (p.Ser1506Thr) c.4423T>A (p.Ser1475Thr) c.2977T>A (p.Ser993Thr) | |
| 8 | g.41933816C>A | CA371065887 | KAT6A | c.4404G>T (p.Met1468Ile) c.4410G>T (p.Met1470Ile) c.3085G>T c.4536G>T (p.Met1512Ile) c.4515G>T (p.Met1505Ile) c.4422G>T (p.Met1474Ile) c.2976G>T (p.Met992Ile) | |
| 8 | g.41933816C>G | CA371065888 | KAT6A | c.4404G>C (p.Met1468Ile) c.4410G>C (p.Met1470Ile) c.3085G>C c.4536G>C (p.Met1512Ile) c.4515G>C (p.Met1505Ile) c.4422G>C (p.Met1474Ile) c.2976G>C (p.Met992Ile) | |
| 8 | g.41933816C>T | CA371065889 | KAT6A | c.4404G>A (p.Met1468Ile) c.4410G>A (p.Met1470Ile) c.3085G>A c.4536G>A (p.Met1512Ile) c.4515G>A (p.Met1505Ile) c.4422G>A (p.Met1474Ile) c.2976G>A (p.Met992Ile) | |
| 8 | g.41933817A>C | CA371065890 | KAT6A | c.4403T>G (p.Met1468Arg) c.4409T>G (p.Met1470Arg) c.3084T>G c.4535T>G (p.Met1512Arg) c.4514T>G (p.Met1505Arg) c.4421T>G (p.Met1474Arg) c.2975T>G (p.Met992Arg) | |
| 8 | g.41933817A>G | CA371065891 | KAT6A | c.4403T>C (p.Met1468Thr) c.4409T>C (p.Met1470Thr) c.3084T>C c.4535T>C (p.Met1512Thr) c.4514T>C (p.Met1505Thr) c.4421T>C (p.Met1474Thr) c.2975T>C (p.Met992Thr) | |
| 8 | g.41933817A>T | CA371065892 | KAT6A | c.4403T>A (p.Met1468Lys) c.4409T>A (p.Met1470Lys) c.3084T>A c.4535T>A (p.Met1512Lys) c.4514T>A (p.Met1505Lys) c.4421T>A (p.Met1474Lys) c.2975T>A (p.Met992Lys) | |
| 8 | g.41933818T>A | CA371065893 | KAT6A | c.4402A>T (p.Met1468Leu) c.4408A>T (p.Met1470Leu) c.3083A>T c.4534A>T (p.Met1512Leu) c.4513A>T (p.Met1505Leu) c.4420A>T (p.Met1474Leu) c.2974A>T (p.Met992Leu) | |
| 8 | g.41933818T>C | CA371065895 | KAT6A | c.4402A>G (p.Met1468Val) c.4408A>G (p.Met1470Val) c.3083A>G c.4534A>G (p.Met1512Val) c.4513A>G (p.Met1505Val) c.4420A>G (p.Met1474Val) c.2974A>G (p.Met992Val) | |
| 8 | g.41933818T>G | CA371065894 | KAT6A | c.4402A>C (p.Met1468Leu) c.4408A>C (p.Met1470Leu) c.3083A>C c.4534A>C (p.Met1512Leu) c.4513A>C (p.Met1505Leu) c.4420A>C (p.Met1474Leu) c.2974A>C (p.Met992Leu) | |
| 8 | g.41933819C>A | CA371065896 | KAT6A | c.4401G>T (p.Gln1467His) c.4407G>T (p.Gln1469His) c.3082G>T c.4533G>T (p.Gln1511His) c.4512G>T (p.Gln1504His) c.4419G>T (p.Gln1473His) c.2973G>T (p.Gln991His) | |
| 8 | g.41933819C>G | CA371065897 | KAT6A | c.4401G>C (p.Gln1467His) c.4407G>C (p.Gln1469His) c.3082G>C c.4533G>C (p.Gln1511His) c.4512G>C (p.Gln1504His) c.4419G>C (p.Gln1473His) c.2973G>C (p.Gln991His) | gnomAD v4 |
| 8 | g.41933819C>T | CA460783378 | KAT6A | c.4401G>A (p.Gln1467=) c.4407G>A (p.Gln1469=) c.3082G>A c.4533G>A (p.Gln1511=) c.4512G>A (p.Gln1504=) c.4419G>A (p.Gln1473=) c.2973G>A (p.Gln991=) | |
| 8 | g.41933820T>A | CA371065898 | KAT6A | c.4400A>T (p.Gln1467Leu) c.4406A>T (p.Gln1469Leu) c.3081A>T c.4532A>T (p.Gln1511Leu) c.4511A>T (p.Gln1504Leu) c.4418A>T (p.Gln1473Leu) c.2972A>T (p.Gln991Leu) | |
| 8 | g.41933820T>C | CA371065899 | KAT6A | c.4400A>G (p.Gln1467Arg) c.4406A>G (p.Gln1469Arg) c.3081A>G c.4532A>G (p.Gln1511Arg) c.4511A>G (p.Gln1504Arg) c.4418A>G (p.Gln1473Arg) c.2972A>G (p.Gln991Arg) | |
| 8 | g.41933820T>G | CA371065900 | KAT6A | c.4400A>C (p.Gln1467Pro) c.4406A>C (p.Gln1469Pro) c.3081A>C c.4532A>C (p.Gln1511Pro) c.4511A>C (p.Gln1504Pro) c.4418A>C (p.Gln1473Pro) c.2972A>C (p.Gln991Pro) | |
| 8 | g.41933821G>A | CA16618637 | KAT6A | c.4399C>T (p.Gln1467Ter) c.4405C>T (p.Gln1469Ter) c.3080C>T c.4531C>T (p.Gln1511Ter) c.4510C>T (p.Gln1504Ter) c.4417C>T (p.Gln1473Ter) c.2971C>T (p.Gln991Ter) | ClinVar dbSNP |
| 8 | g.41933821G>C | CA371065901 | KAT6A | c.4399C>G (p.Gln1467Glu) c.4405C>G (p.Gln1469Glu) c.3080C>G c.4531C>G (p.Gln1511Glu) c.4510C>G (p.Gln1504Glu) c.4417C>G (p.Gln1473Glu) c.2971C>G (p.Gln991Glu) | |
| 8 | g.41933821G= | CA1779196083 | KAT6A | c.4399C= (p.Gln1467=) c.4405C= (p.Gln1469=) c.3080C= c.4531C= (p.Gln1511=) c.4510C= (p.Gln1504=) c.4417C= (p.Gln1473=) c.2971C= (p.Gln991=) | |
| 8 | g.41933821G>T | CA371065902 | KAT6A | c.4399C>A (p.Gln1467Lys) c.4405C>A (p.Gln1469Lys) c.3080C>A c.4531C>A (p.Gln1511Lys) c.4510C>A (p.Gln1504Lys) c.4417C>A (p.Gln1473Lys) c.2971C>A (p.Gln991Lys) | |
| 8 | g.41933822_41933823del | CA2573053019 | KAT6A | c.4398_4399del (p.Gln1467AspfsTer5) c.4404_4405del (p.Gln1469AspfsTer5) c.3079_3080del c.4530_4531del (p.Gln1511AspfsTer5) c.4509_4510del (p.Gln1504AspfsTer5) c.4416_4417del (p.Gln1473AspfsTer5) c.2970_2971del (p.Gln991AspfsTer5) | ClinVar dbSNP |
| 8 | g.41933822A>C | CA460783385 | KAT6A | c.4398T>G (p.Pro1466=) c.4404T>G (p.Pro1468=) c.3079T>G c.4530T>G (p.Pro1510=) c.4509T>G (p.Pro1503=) c.4416T>G (p.Pro1472=) c.2970T>G (p.Pro990=) | |
| 8 | g.41933822A>G | CA460783392 | KAT6A | c.4398T>C (p.Pro1466=) c.4404T>C (p.Pro1468=) c.3079T>C c.4530T>C (p.Pro1510=) c.4509T>C (p.Pro1503=) c.4416T>C (p.Pro1472=) c.2970T>C (p.Pro990=) | |
| 8 | g.41933822A>T | CA460783393 | KAT6A | c.4398T>A (p.Pro1466=) c.4404T>A (p.Pro1468=) c.3079T>A c.4530T>A (p.Pro1510=) c.4509T>A (p.Pro1503=) c.4416T>A (p.Pro1472=) c.2970T>A (p.Pro990=) | |
| 8 | g.41933823G>A | CA371065903 | KAT6A | c.4397C>T (p.Pro1466Leu) c.4403C>T (p.Pro1468Leu) c.3078C>T c.4529C>T (p.Pro1510Leu) c.4508C>T (p.Pro1503Leu) c.4415C>T (p.Pro1472Leu) c.2969C>T (p.Pro990Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933823G>C | CA371065904 | KAT6A | c.4397C>G (p.Pro1466Arg) c.4403C>G (p.Pro1468Arg) c.3078C>G c.4529C>G (p.Pro1510Arg) c.4508C>G (p.Pro1503Arg) c.4415C>G (p.Pro1472Arg) c.2969C>G (p.Pro990Arg) | |
| 8 | g.41933823G= | CA1779196084 | KAT6A | c.4397C= (p.Pro1466=) c.4403C= (p.Pro1468=) c.3078C= c.4529C= (p.Pro1510=) c.4508C= (p.Pro1503=) c.4415C= (p.Pro1472=) c.2969C= (p.Pro990=) | |
| 8 | g.41933823G>T | CA371065905 | KAT6A | c.4397C>A (p.Pro1466His) c.4403C>A (p.Pro1468His) c.3078C>A c.4529C>A (p.Pro1510His) c.4508C>A (p.Pro1503His) c.4415C>A (p.Pro1472His) c.2969C>A (p.Pro990His) | |
| 8 | g.41933824G>A | CA371065906 | KAT6A | c.4396C>T (p.Pro1466Ser) c.4402C>T (p.Pro1468Ser) c.3077C>T c.4528C>T (p.Pro1510Ser) c.4507C>T (p.Pro1503Ser) c.4414C>T (p.Pro1472Ser) c.2968C>T (p.Pro990Ser) | ClinVar |
| 8 | g.41933824G>C | CA371065907 | KAT6A | c.4396C>G (p.Pro1466Ala) c.4402C>G (p.Pro1468Ala) c.3077C>G c.4528C>G (p.Pro1510Ala) c.4507C>G (p.Pro1503Ala) c.4414C>G (p.Pro1472Ala) c.2968C>G (p.Pro990Ala) | |
| 8 | g.41933824G>T | CA371065908 | KAT6A | c.4396C>A (p.Pro1466Thr) c.4402C>A (p.Pro1468Thr) c.3077C>A c.4528C>A (p.Pro1510Thr) c.4507C>A (p.Pro1503Thr) c.4414C>A (p.Pro1472Thr) c.2968C>A (p.Pro990Thr) | |
| 8 | g.41933825G>A | CA460783397 | KAT6A | c.4395C>T (p.Asp1465=) c.4401C>T (p.Asp1467=) c.3076C>T c.4527C>T (p.Asp1509=) c.4506C>T (p.Asp1502=) c.4413C>T (p.Asp1471=) c.2967C>T (p.Asp989=) | |
| 8 | g.41933825G>C | CA371065909 | KAT6A | c.4395C>G (p.Asp1465Glu) c.4401C>G (p.Asp1467Glu) c.3076C>G c.4527C>G (p.Asp1509Glu) c.4506C>G (p.Asp1502Glu) c.4413C>G (p.Asp1471Glu) c.2967C>G (p.Asp989Glu) | |
| 8 | g.41933825G= | CA1779196085 | KAT6A | c.4395C= (p.Asp1465=) c.4401C= (p.Asp1467=) c.3076C= c.4527C= (p.Asp1509=) c.4506C= (p.Asp1502=) c.4413C= (p.Asp1471=) c.2967C= (p.Asp989=) | |
| 8 | g.41933825G>T | CA4729494 | KAT6A | c.4395C>A (p.Asp1465Glu) c.4401C>A (p.Asp1467Glu) c.3076C>A c.4527C>A (p.Asp1509Glu) c.4506C>A (p.Asp1502Glu) c.4413C>A (p.Asp1471Glu) c.2967C>A (p.Asp989Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933826T>A | CA371065910 | KAT6A | c.4394A>T (p.Asp1465Val) c.4400A>T (p.Asp1467Val) c.3075A>T c.4526A>T (p.Asp1509Val) c.4505A>T (p.Asp1502Val) c.4412A>T (p.Asp1471Val) c.2966A>T (p.Asp989Val) | |
| 8 | g.41933826T>C | CA4729495 | KAT6A | c.4394A>G (p.Asp1465Gly) c.4400A>G (p.Asp1467Gly) c.3075A>G c.4526A>G (p.Asp1509Gly) c.4505A>G (p.Asp1502Gly) c.4412A>G (p.Asp1471Gly) c.2966A>G (p.Asp989Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933826T>G | CA371065911 | KAT6A | c.4394A>C (p.Asp1465Ala) c.4400A>C (p.Asp1467Ala) c.3075A>C c.4526A>C (p.Asp1509Ala) c.4505A>C (p.Asp1502Ala) c.4412A>C (p.Asp1471Ala) c.2966A>C (p.Asp989Ala) | |
| 8 | g.41933826T= | CA1779196086 | KAT6A | c.4394A= (p.Asp1465=) c.4400A= (p.Asp1467=) c.3075A= c.4526A= (p.Asp1509=) c.4505A= (p.Asp1502=) c.4412A= (p.Asp1471=) c.2966A= (p.Asp989=) | |
| 8 | g.41933827C>A | CA371065912 | KAT6A | c.4393G>T (p.Asp1465Tyr) c.4399G>T (p.Asp1467Tyr) c.3074G>T c.4525G>T (p.Asp1509Tyr) c.4504G>T (p.Asp1502Tyr) c.4411G>T (p.Asp1471Tyr) c.2965G>T (p.Asp989Tyr) | COSMIC |
| 8 | g.41933827C= | CA1779196087 | KAT6A | c.4393G= (p.Asp1465=) c.4399G= (p.Asp1467=) c.3074G= c.4525G= (p.Asp1509=) c.4504G= (p.Asp1502=) c.4411G= (p.Asp1471=) c.2965G= (p.Asp989=) | |
| 8 | g.41933827C>G | CA371065913 | KAT6A | c.4393G>C (p.Asp1465His) c.4399G>C (p.Asp1467His) c.3074G>C c.4525G>C (p.Asp1509His) c.4504G>C (p.Asp1502His) c.4411G>C (p.Asp1471His) c.2965G>C (p.Asp989His) | |
| 8 | g.41933827C>T | CA371065914 | KAT6A | c.4393G>A (p.Asp1465Asn) c.4399G>A (p.Asp1467Asn) c.3074G>A c.4525G>A (p.Asp1509Asn) c.4504G>A (p.Asp1502Asn) c.4411G>A (p.Asp1471Asn) c.2965G>A (p.Asp989Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933828C>A | CA371065915 | KAT6A | c.4392G>T (p.Glu1464Asp) c.4398G>T (p.Glu1466Asp) c.3073G>T c.4524G>T (p.Glu1508Asp) c.4503G>T (p.Glu1501Asp) c.4410G>T (p.Glu1470Asp) c.2964G>T (p.Glu988Asp) | |
| 8 | g.41933828C= | CA1779196088 | KAT6A | c.4392G= (p.Glu1464=) c.4398G= (p.Glu1466=) c.3073G= c.4524G= (p.Glu1508=) c.4503G= (p.Glu1501=) c.4410G= (p.Glu1470=) c.2964G= (p.Glu988=) | |
| 8 | g.41933828C>G | CA371065916 | KAT6A | c.4392G>C (p.Glu1464Asp) c.4398G>C (p.Glu1466Asp) c.3073G>C c.4524G>C (p.Glu1508Asp) c.4503G>C (p.Glu1501Asp) c.4410G>C (p.Glu1470Asp) c.2964G>C (p.Glu988Asp) | |
| 8 | g.41933828C>T | CA460783406 | KAT6A | c.4392G>A (p.Glu1464=) c.4398G>A (p.Glu1466=) c.3073G>A c.4524G>A (p.Glu1508=) c.4503G>A (p.Glu1501=) c.4410G>A (p.Glu1470=) c.2964G>A (p.Glu988=) | dbSNP gnomAD v4 |
| 8 | g.41933829T>A | CA371065917 | KAT6A | c.4391A>T (p.Glu1464Val) c.4397A>T (p.Glu1466Val) c.3072A>T c.4523A>T (p.Glu1508Val) c.4502A>T (p.Glu1501Val) c.4409A>T (p.Glu1470Val) c.2963A>T (p.Glu988Val) | |
| 8 | g.41933829T>C | CA371065918 | KAT6A | c.4391A>G (p.Glu1464Gly) c.4397A>G (p.Glu1466Gly) c.3072A>G c.4523A>G (p.Glu1508Gly) c.4502A>G (p.Glu1501Gly) c.4409A>G (p.Glu1470Gly) c.2963A>G (p.Glu988Gly) | dbSNP gnomAD v2 |
| 8 | g.41933829T>G | CA371065919 | KAT6A | c.4391A>C (p.Glu1464Ala) c.4397A>C (p.Glu1466Ala) c.3072A>C c.4523A>C (p.Glu1508Ala) c.4502A>C (p.Glu1501Ala) c.4409A>C (p.Glu1470Ala) c.2963A>C (p.Glu988Ala) | |
| 8 | g.41933829T= | CA1779196089 | KAT6A | c.4391A= (p.Glu1464=) c.4397A= (p.Glu1466=) c.3072A= c.4523A= (p.Glu1508=) c.4502A= (p.Glu1501=) c.4409A= (p.Glu1470=) c.2963A= (p.Glu988=) |