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.41933490A>C | CA371064769 | KAT6A | c.4730T>G (p.Ile1577Ser) c.4736T>G (p.Ile1579Ser) c.3411T>G c.4862T>G (p.Ile1621Ser) c.4841T>G (p.Ile1614Ser) c.4748T>G (p.Ile1583Ser) c.3302T>G (p.Ile1101Ser) | |
| 8 | g.41933490A>G | CA371064770 | KAT6A | c.4730T>C (p.Ile1577Thr) c.4736T>C (p.Ile1579Thr) c.3411T>C c.4862T>C (p.Ile1621Thr) c.4841T>C (p.Ile1614Thr) c.4748T>C (p.Ile1583Thr) c.3302T>C (p.Ile1101Thr) | |
| 8 | g.41933490A>T | CA371064771 | KAT6A | c.4730T>A (p.Ile1577Asn) c.4736T>A (p.Ile1579Asn) c.3411T>A c.4862T>A (p.Ile1621Asn) c.4841T>A (p.Ile1614Asn) c.4748T>A (p.Ile1583Asn) c.3302T>A (p.Ile1101Asn) | |
| 8 | g.41933491T>A | CA371064772 | KAT6A | c.4729A>T (p.Ile1577Phe) c.4735A>T (p.Ile1579Phe) c.3410A>T c.4861A>T (p.Ile1621Phe) c.4840A>T (p.Ile1614Phe) c.4747A>T (p.Ile1583Phe) c.3301A>T (p.Ile1101Phe) | |
| 8 | g.41933491T>C | CA371064773 | KAT6A | c.4729A>G (p.Ile1577Val) c.4735A>G (p.Ile1579Val) c.3410A>G c.4861A>G (p.Ile1621Val) c.4840A>G (p.Ile1614Val) c.4747A>G (p.Ile1583Val) c.3301A>G (p.Ile1101Val) | dbSNP gnomAD v4 |
| 8 | g.41933491T>G | CA371064774 | KAT6A | c.4729A>C (p.Ile1577Leu) c.4735A>C (p.Ile1579Leu) c.3410A>C c.4861A>C (p.Ile1621Leu) c.4840A>C (p.Ile1614Leu) c.4747A>C (p.Ile1583Leu) c.3301A>C (p.Ile1101Leu) | |
| 8 | g.41933491T= | CA1779195957 | KAT6A | c.4729A= (p.Ile1577=) c.4735A= (p.Ile1579=) c.3410A= c.4861A= (p.Ile1621=) c.4840A= (p.Ile1614=) c.4747A= (p.Ile1583=) c.3301A= (p.Ile1101=) | |
| 8 | g.41933492G>A | CA460783853 | KAT6A | c.4728C>T (p.Ser1576=) c.4734C>T (p.Ser1578=) c.3409C>T c.4860C>T (p.Ser1620=) c.4839C>T (p.Ser1613=) c.4746C>T (p.Ser1582=) c.3300C>T (p.Ser1100=) | |
| 8 | g.41933492G>C | CA371064776 | KAT6A | c.4728C>G (p.Ser1576Arg) c.4734C>G (p.Ser1578Arg) c.3409C>G c.4860C>G (p.Ser1620Arg) c.4839C>G (p.Ser1613Arg) c.4746C>G (p.Ser1582Arg) c.3300C>G (p.Ser1100Arg) | |
| 8 | g.41933492G>T | CA371064775 | KAT6A | c.4728C>A (p.Ser1576Arg) c.4734C>A (p.Ser1578Arg) c.3409C>A c.4860C>A (p.Ser1620Arg) c.4839C>A (p.Ser1613Arg) c.4746C>A (p.Ser1582Arg) c.3300C>A (p.Ser1100Arg) | |
| 8 | g.41933493C>A | CA371064777 | KAT6A | c.4727G>T (p.Ser1576Ile) c.4733G>T (p.Ser1578Ile) c.3408G>T c.4859G>T (p.Ser1620Ile) c.4838G>T (p.Ser1613Ile) c.4745G>T (p.Ser1582Ile) c.3299G>T (p.Ser1100Ile) | |
| 8 | g.41933493C= | CA1779195958 | KAT6A | c.4727G= (p.Ser1576=) c.4733G= (p.Ser1578=) c.3408G= c.4859G= (p.Ser1620=) c.4838G= (p.Ser1613=) c.4745G= (p.Ser1582=) c.3299G= (p.Ser1100=) | |
| 8 | g.41933493C>G | CA371064779 | KAT6A | c.4727G>C (p.Ser1576Thr) c.4733G>C (p.Ser1578Thr) c.3408G>C c.4859G>C (p.Ser1620Thr) c.4838G>C (p.Ser1613Thr) c.4745G>C (p.Ser1582Thr) c.3299G>C (p.Ser1100Thr) | |
| 8 | g.41933493C>T | CA371064778 | KAT6A | c.4727G>A (p.Ser1576Asn) c.4733G>A (p.Ser1578Asn) c.3408G>A c.4859G>A (p.Ser1620Asn) c.4838G>A (p.Ser1613Asn) c.4745G>A (p.Ser1582Asn) c.3299G>A (p.Ser1100Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933494T>A | CA371064780 | KAT6A | c.4726A>T (p.Ser1576Cys) c.4732A>T (p.Ser1578Cys) c.3407A>T c.4858A>T (p.Ser1620Cys) c.4837A>T (p.Ser1613Cys) c.4744A>T (p.Ser1582Cys) c.3298A>T (p.Ser1100Cys) | |
| 8 | g.41933494T>C | CA371064781 | KAT6A | c.4726A>G (p.Ser1576Gly) c.4732A>G (p.Ser1578Gly) c.3407A>G c.4858A>G (p.Ser1620Gly) c.4837A>G (p.Ser1613Gly) c.4744A>G (p.Ser1582Gly) c.3298A>G (p.Ser1100Gly) | gnomAD v4 |
| 8 | g.41933494T>G | CA371064782 | KAT6A | c.4726A>C (p.Ser1576Arg) c.4732A>C (p.Ser1578Arg) c.3407A>C c.4858A>C (p.Ser1620Arg) c.4837A>C (p.Ser1613Arg) c.4744A>C (p.Ser1582Arg) c.3298A>C (p.Ser1100Arg) | |
| 8 | g.41933495G>A | CA460783858 | KAT6A | c.4725C>T (p.Gly1575=) c.4731C>T (p.Gly1577=) c.3406C>T c.4857C>T (p.Gly1619=) c.4836C>T (p.Gly1612=) c.4743C>T (p.Gly1581=) c.3297C>T (p.Gly1099=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933495G>C | CA460783859 | KAT6A | c.4725C>G (p.Gly1575=) c.4731C>G (p.Gly1577=) c.3406C>G c.4857C>G (p.Gly1619=) c.4836C>G (p.Gly1612=) c.4743C>G (p.Gly1581=) c.3297C>G (p.Gly1099=) | |
| 8 | g.41933495G= | CA1779195959 | KAT6A | c.4725C= (p.Gly1575=) c.4731C= (p.Gly1577=) c.3406C= c.4857C= (p.Gly1619=) c.4836C= (p.Gly1612=) c.4743C= (p.Gly1581=) c.3297C= (p.Gly1099=) | |
| 8 | g.41933495G>T | CA460783860 | KAT6A | c.4725C>A (p.Gly1575=) c.4731C>A (p.Gly1577=) c.3406C>A c.4857C>A (p.Gly1619=) c.4836C>A (p.Gly1612=) c.4743C>A (p.Gly1581=) c.3297C>A (p.Gly1099=) | |
| 8 | g.41933496C>A | CA371064783 | KAT6A | c.4724G>T (p.Gly1575Val) c.4730G>T (p.Gly1577Val) c.3405G>T c.4856G>T (p.Gly1619Val) c.4835G>T (p.Gly1612Val) c.4742G>T (p.Gly1581Val) c.3296G>T (p.Gly1099Val) | ClinVar |
| 8 | g.41933496C>G | CA371064784 | KAT6A | c.4724G>C (p.Gly1575Ala) c.4730G>C (p.Gly1577Ala) c.3405G>C c.4856G>C (p.Gly1619Ala) c.4835G>C (p.Gly1612Ala) c.4742G>C (p.Gly1581Ala) c.3296G>C (p.Gly1099Ala) | |
| 8 | g.41933496C>T | CA371064785 | KAT6A | c.4724G>A (p.Gly1575Asp) c.4730G>A (p.Gly1577Asp) c.3405G>A c.4856G>A (p.Gly1619Asp) c.4835G>A (p.Gly1612Asp) c.4742G>A (p.Gly1581Asp) c.3296G>A (p.Gly1099Asp) | |
| 8 | g.41933497C>A | CA371064786 | KAT6A | c.4723G>T (p.Gly1575Cys) c.4729G>T (p.Gly1577Cys) c.3404G>T c.4855G>T (p.Gly1619Cys) c.4834G>T (p.Gly1612Cys) c.4741G>T (p.Gly1581Cys) c.3295G>T (p.Gly1099Cys) | |
| 8 | g.41933497C= | CA1779195960 | KAT6A | c.4723G= (p.Gly1575=) c.4729G= (p.Gly1577=) c.3404G= c.4855G= (p.Gly1619=) c.4834G= (p.Gly1612=) c.4741G= (p.Gly1581=) c.3295G= (p.Gly1099=) | |
| 8 | g.41933497C>G | CA371064787 | KAT6A | c.4723G>C (p.Gly1575Arg) c.4729G>C (p.Gly1577Arg) c.3404G>C c.4855G>C (p.Gly1619Arg) c.4834G>C (p.Gly1612Arg) c.4741G>C (p.Gly1581Arg) c.3295G>C (p.Gly1099Arg) | |
| 8 | g.41933497C>T | CA4729436 | KAT6A | c.4723G>A (p.Gly1575Ser) c.4729G>A (p.Gly1577Ser) c.3404G>A c.4855G>A (p.Gly1619Ser) c.4834G>A (p.Gly1612Ser) c.4741G>A (p.Gly1581Ser) c.3295G>A (p.Gly1099Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933498G>A | CA4729437 | KAT6A | c.4722C>T (p.Gly1574=) c.4728C>T (p.Gly1576=) c.3403C>T c.4854C>T (p.Gly1618=) c.4833C>T (p.Gly1611=) c.4740C>T (p.Gly1580=) c.3294C>T (p.Gly1098=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933498G>C | CA175939179 | KAT6A | c.4722C>G (p.Gly1574=) c.4728C>G (p.Gly1576=) c.3403C>G c.4854C>G (p.Gly1618=) c.4833C>G (p.Gly1611=) c.4740C>G (p.Gly1580=) c.3294C>G (p.Gly1098=) | dbSNP |
| 8 | g.41933498G= | CA1779195961 | KAT6A | c.4722C= (p.Gly1574=) c.4728C= (p.Gly1576=) c.3403C= c.4854C= (p.Gly1618=) c.4833C= (p.Gly1611=) c.4740C= (p.Gly1580=) c.3294C= (p.Gly1098=) | |
| 8 | g.41933498G>T | CA460783861 | KAT6A | c.4722C>A (p.Gly1574=) c.4728C>A (p.Gly1576=) c.3403C>A c.4854C>A (p.Gly1618=) c.4833C>A (p.Gly1611=) c.4740C>A (p.Gly1580=) c.3294C>A (p.Gly1098=) | |
| 8 | g.41933499C>A | CA371064788 | KAT6A | c.4721G>T (p.Gly1574Val) c.4727G>T (p.Gly1576Val) c.3402G>T c.4853G>T (p.Gly1618Val) c.4832G>T (p.Gly1611Val) c.4739G>T (p.Gly1580Val) c.3293G>T (p.Gly1098Val) | |
| 8 | g.41933499C>G | CA371064789 | KAT6A | c.4721G>C (p.Gly1574Ala) c.4727G>C (p.Gly1576Ala) c.3402G>C c.4853G>C (p.Gly1618Ala) c.4832G>C (p.Gly1611Ala) c.4739G>C (p.Gly1580Ala) c.3293G>C (p.Gly1098Ala) | |
| 8 | g.41933499C>T | CA371064791 | KAT6A | c.4721G>A (p.Gly1574Asp) c.4727G>A (p.Gly1576Asp) c.3402G>A c.4853G>A (p.Gly1618Asp) c.4832G>A (p.Gly1611Asp) c.4739G>A (p.Gly1580Asp) c.3293G>A (p.Gly1098Asp) | |
| 8 | g.41933500C>A | CA371064792 | KAT6A | c.4720G>T (p.Gly1574Cys) c.4726G>T (p.Gly1576Cys) c.3401G>T c.4852G>T (p.Gly1618Cys) c.4831G>T (p.Gly1611Cys) c.4738G>T (p.Gly1580Cys) c.3292G>T (p.Gly1098Cys) | COSMIC |
| 8 | g.41933500C= | CA1779195962 | KAT6A | c.4720G= (p.Gly1574=) c.4726G= (p.Gly1576=) c.3401G= c.4852G= (p.Gly1618=) c.4831G= (p.Gly1611=) c.4738G= (p.Gly1580=) c.3292G= (p.Gly1098=) | |
| 8 | g.41933500C>G | CA371064794 | KAT6A | c.4720G>C (p.Gly1574Arg) c.4726G>C (p.Gly1576Arg) c.3401G>C c.4852G>C (p.Gly1618Arg) c.4831G>C (p.Gly1611Arg) c.4738G>C (p.Gly1580Arg) c.3292G>C (p.Gly1098Arg) | |
| 8 | g.41933500C>T | CA371064793 | KAT6A | c.4720G>A (p.Gly1574Ser) c.4726G>A (p.Gly1576Ser) c.3401G>A c.4852G>A (p.Gly1618Ser) c.4831G>A (p.Gly1611Ser) c.4738G>A (p.Gly1580Ser) c.3292G>A (p.Gly1098Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933501C>A | CA371064795 | KAT6A | c.4719G>T (p.Met1573Ile) c.4725G>T (p.Met1575Ile) c.3400G>T c.4851G>T (p.Met1617Ile) c.4830G>T (p.Met1610Ile) c.4737G>T (p.Met1579Ile) c.3291G>T (p.Met1097Ile) | |
| 8 | g.41933501C>G | CA371064796 | KAT6A | c.4719G>C (p.Met1573Ile) c.4725G>C (p.Met1575Ile) c.3400G>C c.4851G>C (p.Met1617Ile) c.4830G>C (p.Met1610Ile) c.4737G>C (p.Met1579Ile) c.3291G>C (p.Met1097Ile) | gnomAD v4 |
| 8 | g.41933501C>T | CA371064797 | KAT6A | c.4719G>A (p.Met1573Ile) c.4725G>A (p.Met1575Ile) c.3400G>A c.4851G>A (p.Met1617Ile) c.4830G>A (p.Met1610Ile) c.4737G>A (p.Met1579Ile) c.3291G>A (p.Met1097Ile) | |
| 8 | g.41933502A>C | CA371064800 | KAT6A | c.4718T>G (p.Met1573Arg) c.4724T>G (p.Met1575Arg) c.3399T>G c.4850T>G (p.Met1617Arg) c.4829T>G (p.Met1610Arg) c.4736T>G (p.Met1579Arg) c.3290T>G (p.Met1097Arg) | gnomAD v3 gnomAD v4 |
| 8 | g.41933502A>G | CA371064802 | KAT6A | c.4718T>C (p.Met1573Thr) c.4724T>C (p.Met1575Thr) c.3399T>C c.4850T>C (p.Met1617Thr) c.4829T>C (p.Met1610Thr) c.4736T>C (p.Met1579Thr) c.3290T>C (p.Met1097Thr) | gnomAD v4 |
| 8 | g.41933502A>T | CA371064803 | KAT6A | c.4718T>A (p.Met1573Lys) c.4724T>A (p.Met1575Lys) c.3399T>A c.4850T>A (p.Met1617Lys) c.4829T>A (p.Met1610Lys) c.4736T>A (p.Met1579Lys) c.3290T>A (p.Met1097Lys) | |
| 8 | g.41933503T>A | CA371064806 | KAT6A | c.4717A>T (p.Met1573Leu) c.4723A>T (p.Met1575Leu) c.3398A>T c.4849A>T (p.Met1617Leu) c.4828A>T (p.Met1610Leu) c.4735A>T (p.Met1579Leu) c.3289A>T (p.Met1097Leu) | |
| 8 | g.41933503T>C | CA371064808 | KAT6A | c.4717A>G (p.Met1573Val) c.4723A>G (p.Met1575Val) c.3398A>G c.4849A>G (p.Met1617Val) c.4828A>G (p.Met1610Val) c.4735A>G (p.Met1579Val) c.3289A>G (p.Met1097Val) | |
| 8 | g.41933503T>G | CA371064809 | KAT6A | c.4717A>C (p.Met1573Leu) c.4723A>C (p.Met1575Leu) c.3398A>C c.4849A>C (p.Met1617Leu) c.4828A>C (p.Met1610Leu) c.4735A>C (p.Met1579Leu) c.3289A>C (p.Met1097Leu) | |
| 8 | g.41933507_41933514del | CA2687076957 | KAT6A | c.4710_4717del (p.Ser1571GlyfsTer?) c.4716_4723del (p.Ser1573GlyfsTer?) c.3391_3398del c.4842_4849del (p.Ser1615GlyfsTer?) c.4821_4828del (p.Ser1608GlyfsTer?) c.4728_4735del (p.Ser1577GlyfsTer?) c.3282_3289del (p.Ser1095GlyfsTer?) | gnomAD v4 |
| 8 | g.41933504C>A | CA460783148 | KAT6A | c.4716G>T (p.Thr1572=) c.4722G>T (p.Thr1574=) c.3397G>T c.4848G>T (p.Thr1616=) c.4827G>T (p.Thr1609=) c.4734G>T (p.Thr1578=) c.3288G>T (p.Thr1096=) | |
| 8 | g.41933504C= | CA1779195963 | KAT6A | c.4716G= (p.Thr1572=) c.4722G= (p.Thr1574=) c.3397G= c.4848G= (p.Thr1616=) c.4827G= (p.Thr1609=) c.4734G= (p.Thr1578=) c.3288G= (p.Thr1096=) | |
| 8 | g.41933504C>G | CA460783149 | KAT6A | c.4716G>C (p.Thr1572=) c.4722G>C (p.Thr1574=) c.3397G>C c.4848G>C (p.Thr1616=) c.4827G>C (p.Thr1609=) c.4734G>C (p.Thr1578=) c.3288G>C (p.Thr1096=) | gnomAD v4 |
| 8 | g.41933504C>T | CA460783150 | KAT6A | c.4716G>A (p.Thr1572=) c.4722G>A (p.Thr1574=) c.3397G>A c.4848G>A (p.Thr1616=) c.4827G>A (p.Thr1609=) c.4734G>A (p.Thr1578=) c.3288G>A (p.Thr1096=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933505G>A | CA4729438 | KAT6A | c.4715C>T (p.Thr1572Met) c.4721C>T (p.Thr1574Met) c.3396C>T c.4847C>T (p.Thr1616Met) c.4826C>T (p.Thr1609Met) c.4733C>T (p.Thr1578Met) c.3287C>T (p.Thr1096Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933505G>C | CA371064815 | KAT6A | c.4715C>G (p.Thr1572Arg) c.4721C>G (p.Thr1574Arg) c.3396C>G c.4847C>G (p.Thr1616Arg) c.4826C>G (p.Thr1609Arg) c.4733C>G (p.Thr1578Arg) c.3287C>G (p.Thr1096Arg) | |
| 8 | g.41933505G= | CA1779195964 | KAT6A | c.4715C= (p.Thr1572=) c.4721C= (p.Thr1574=) c.3396C= c.4847C= (p.Thr1616=) c.4826C= (p.Thr1609=) c.4733C= (p.Thr1578=) c.3287C= (p.Thr1096=) | |
| 8 | g.41933505G>T | CA371064812 | KAT6A | c.4715C>A (p.Thr1572Lys) c.4721C>A (p.Thr1574Lys) c.3396C>A c.4847C>A (p.Thr1616Lys) c.4826C>A (p.Thr1609Lys) c.4733C>A (p.Thr1578Lys) c.3287C>A (p.Thr1096Lys) | |
| 8 | g.41933506T>A | CA371064817 | KAT6A | c.4714A>T (p.Thr1572Ser) c.4720A>T (p.Thr1574Ser) c.3395A>T c.4846A>T (p.Thr1616Ser) c.4825A>T (p.Thr1609Ser) c.4732A>T (p.Thr1578Ser) c.3286A>T (p.Thr1096Ser) | |
| 8 | g.41933506T>C | CA371064819 | KAT6A | c.4714A>G (p.Thr1572Ala) c.4720A>G (p.Thr1574Ala) c.3395A>G c.4846A>G (p.Thr1616Ala) c.4825A>G (p.Thr1609Ala) c.4732A>G (p.Thr1578Ala) c.3286A>G (p.Thr1096Ala) | |
| 8 | g.41933506T>G | CA371064821 | KAT6A | c.4714A>C (p.Thr1572Pro) c.4720A>C (p.Thr1574Pro) c.3395A>C c.4846A>C (p.Thr1616Pro) c.4825A>C (p.Thr1609Pro) c.4732A>C (p.Thr1578Pro) c.3286A>C (p.Thr1096Pro) | gnomAD v4 |
| 8 | g.41933507G>A | CA460783155 | KAT6A | c.4713C>T (p.Ser1571=) c.4719C>T (p.Ser1573=) c.3394C>T c.4845C>T (p.Ser1615=) c.4824C>T (p.Ser1608=) c.4731C>T (p.Ser1577=) c.3285C>T (p.Ser1095=) | |
| 8 | g.41933507G>C | CA460783156 | KAT6A | c.4713C>G (p.Ser1571=) c.4719C>G (p.Ser1573=) c.3394C>G c.4845C>G (p.Ser1615=) c.4824C>G (p.Ser1608=) c.4731C>G (p.Ser1577=) c.3285C>G (p.Ser1095=) | |
| 8 | g.41933507G>T | CA460783157 | KAT6A | c.4713C>A (p.Ser1571=) c.4719C>A (p.Ser1573=) c.3394C>A c.4845C>A (p.Ser1615=) c.4824C>A (p.Ser1608=) c.4731C>A (p.Ser1577=) c.3285C>A (p.Ser1095=) | |
| 8 | g.41933508G>A | CA371064824 | KAT6A | c.4712C>T (p.Ser1571Phe) c.4718C>T (p.Ser1573Phe) c.3393C>T c.4844C>T (p.Ser1615Phe) c.4823C>T (p.Ser1608Phe) c.4730C>T (p.Ser1577Phe) c.3284C>T (p.Ser1095Phe) | |
| 8 | g.41933508G>C | CA371064826 | KAT6A | c.4712C>G (p.Ser1571Cys) c.4718C>G (p.Ser1573Cys) c.3393C>G c.4844C>G (p.Ser1615Cys) c.4823C>G (p.Ser1608Cys) c.4730C>G (p.Ser1577Cys) c.3284C>G (p.Ser1095Cys) | gnomAD v4 |
| 8 | g.41933508G>T | CA371064828 | KAT6A | c.4712C>A (p.Ser1571Tyr) c.4718C>A (p.Ser1573Tyr) c.3393C>A c.4844C>A (p.Ser1615Tyr) c.4823C>A (p.Ser1608Tyr) c.4730C>A (p.Ser1577Tyr) c.3284C>A (p.Ser1095Tyr) | |
| 8 | g.41933509A>C | CA371064838 | KAT6A | c.4711T>G (p.Ser1571Ala) c.4717T>G (p.Ser1573Ala) c.3392T>G c.4843T>G (p.Ser1615Ala) c.4822T>G (p.Ser1608Ala) c.4729T>G (p.Ser1577Ala) c.3283T>G (p.Ser1095Ala) | |
| 8 | g.41933509A>G | CA371064834 | KAT6A | c.4711T>C (p.Ser1571Pro) c.4717T>C (p.Ser1573Pro) c.3392T>C c.4843T>C (p.Ser1615Pro) c.4822T>C (p.Ser1608Pro) c.4729T>C (p.Ser1577Pro) c.3283T>C (p.Ser1095Pro) | |
| 8 | g.41933509A>T | CA371064836 | KAT6A | c.4711T>A (p.Ser1571Thr) c.4717T>A (p.Ser1573Thr) c.3392T>A c.4843T>A (p.Ser1615Thr) c.4822T>A (p.Ser1608Thr) c.4729T>A (p.Ser1577Thr) c.3283T>A (p.Ser1095Thr) | |
| 8 | g.41933510G>A | CA460783161 | KAT6A | c.4710C>T (p.Asp1570=) c.4716C>T (p.Asp1572=) c.3391C>T c.4842C>T (p.Asp1614=) c.4821C>T (p.Asp1607=) c.4728C>T (p.Asp1576=) c.3282C>T (p.Asp1094=) | gnomAD v4 |
| 8 | g.41933510G>C | CA371064842 | KAT6A | c.4710C>G (p.Asp1570Glu) c.4716C>G (p.Asp1572Glu) c.3391C>G c.4842C>G (p.Asp1614Glu) c.4821C>G (p.Asp1607Glu) c.4728C>G (p.Asp1576Glu) c.3282C>G (p.Asp1094Glu) | |
| 8 | g.41933510G>T | CA371064843 | KAT6A | c.4710C>A (p.Asp1570Glu) c.4716C>A (p.Asp1572Glu) c.3391C>A c.4842C>A (p.Asp1614Glu) c.4821C>A (p.Asp1607Glu) c.4728C>A (p.Asp1576Glu) c.3282C>A (p.Asp1094Glu) | |
| 8 | g.41933511T>A | CA371064847 | KAT6A | c.4709A>T (p.Asp1570Val) c.4715A>T (p.Asp1572Val) c.3390A>T c.4841A>T (p.Asp1614Val) c.4820A>T (p.Asp1607Val) c.4727A>T (p.Asp1576Val) c.3281A>T (p.Asp1094Val) | COSMIC |
| 8 | g.41933511T>C | CA371064848 | KAT6A | c.4709A>G (p.Asp1570Gly) c.4715A>G (p.Asp1572Gly) c.3390A>G c.4841A>G (p.Asp1614Gly) c.4820A>G (p.Asp1607Gly) c.4727A>G (p.Asp1576Gly) c.3281A>G (p.Asp1094Gly) | |
| 8 | g.41933511T>G | CA371064850 | KAT6A | c.4709A>C (p.Asp1570Ala) c.4715A>C (p.Asp1572Ala) c.3390A>C c.4841A>C (p.Asp1614Ala) c.4820A>C (p.Asp1607Ala) c.4727A>C (p.Asp1576Ala) c.3281A>C (p.Asp1094Ala) | |
| 8 | g.41933512C>A | CA371064853 | KAT6A | c.4708G>T (p.Asp1570Tyr) c.4714G>T (p.Asp1572Tyr) c.3389G>T c.4840G>T (p.Asp1614Tyr) c.4819G>T (p.Asp1607Tyr) c.4726G>T (p.Asp1576Tyr) c.3280G>T (p.Asp1094Tyr) | |
| 8 | g.41933512C>G | CA371064857 | KAT6A | c.4708G>C (p.Asp1570His) c.4714G>C (p.Asp1572His) c.3389G>C c.4840G>C (p.Asp1614His) c.4819G>C (p.Asp1607His) c.4726G>C (p.Asp1576His) c.3280G>C (p.Asp1094His) | |
| 8 | g.41933512C>T | CA371064855 | KAT6A | c.4708G>A (p.Asp1570Asn) c.4714G>A (p.Asp1572Asn) c.3389G>A c.4840G>A (p.Asp1614Asn) c.4819G>A (p.Asp1607Asn) c.4726G>A (p.Asp1576Asn) c.3280G>A (p.Asp1094Asn) | ClinVar gnomAD v4 COSMIC |
| 8 | g.41933513G>A | CA4729439 | KAT6A | c.4707C>T (p.Tyr1569=) c.4713C>T (p.Tyr1571=) c.3388C>T c.4839C>T (p.Tyr1613=) c.4818C>T (p.Tyr1606=) c.4725C>T (p.Tyr1575=) c.3279C>T (p.Tyr1093=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933513G>C | CA371064862 | KAT6A | c.4707C>G (p.Tyr1569Ter) c.4713C>G (p.Tyr1571Ter) c.3388C>G c.4839C>G (p.Tyr1613Ter) c.4818C>G (p.Tyr1606Ter) c.4725C>G (p.Tyr1575Ter) c.3279C>G (p.Tyr1093Ter) | |
| 8 | g.41933513G= | CA1779195965 | KAT6A | c.4707C= (p.Tyr1569=) c.4713C= (p.Tyr1571=) c.3388C= c.4839C= (p.Tyr1613=) c.4818C= (p.Tyr1606=) c.4725C= (p.Tyr1575=) c.3279C= (p.Tyr1093=) | |
| 8 | g.41933513G>T | CA371064864 | KAT6A | c.4707C>A (p.Tyr1569Ter) c.4713C>A (p.Tyr1571Ter) c.3388C>A c.4839C>A (p.Tyr1613Ter) c.4818C>A (p.Tyr1606Ter) c.4725C>A (p.Tyr1575Ter) c.3279C>A (p.Tyr1093Ter) | |
| 8 | g.41933514T>A | CA371064867 | KAT6A | c.4706A>T (p.Tyr1569Phe) c.4712A>T (p.Tyr1571Phe) c.3387A>T c.4838A>T (p.Tyr1613Phe) c.4817A>T (p.Tyr1606Phe) c.4724A>T (p.Tyr1575Phe) c.3278A>T (p.Tyr1093Phe) | |
| 8 | g.41933514T>C | CA371064869 | KAT6A | c.4706A>G (p.Tyr1569Cys) c.4712A>G (p.Tyr1571Cys) c.3387A>G c.4838A>G (p.Tyr1613Cys) c.4817A>G (p.Tyr1606Cys) c.4724A>G (p.Tyr1575Cys) c.3278A>G (p.Tyr1093Cys) | |
| 8 | g.41933514T>G | CA371064871 | KAT6A | c.4706A>C (p.Tyr1569Ser) c.4712A>C (p.Tyr1571Ser) c.3387A>C c.4838A>C (p.Tyr1613Ser) c.4817A>C (p.Tyr1606Ser) c.4724A>C (p.Tyr1575Ser) c.3278A>C (p.Tyr1093Ser) | |
| 8 | g.41933515A>C | CA371064873 | KAT6A | c.4705T>G (p.Tyr1569Asp) c.4711T>G (p.Tyr1571Asp) c.3386T>G c.4837T>G (p.Tyr1613Asp) c.4816T>G (p.Tyr1606Asp) c.4723T>G (p.Tyr1575Asp) c.3277T>G (p.Tyr1093Asp) | |
| 8 | g.41933515A>G | CA371064876 | KAT6A | c.4705T>C (p.Tyr1569His) c.4711T>C (p.Tyr1571His) c.3386T>C c.4837T>C (p.Tyr1613His) c.4816T>C (p.Tyr1606His) c.4723T>C (p.Tyr1575His) c.3277T>C (p.Tyr1093His) | |
| 8 | g.41933515A>T | CA371064878 | KAT6A | c.4705T>A (p.Tyr1569Asn) c.4711T>A (p.Tyr1571Asn) c.3386T>A c.4837T>A (p.Tyr1613Asn) c.4816T>A (p.Tyr1606Asn) c.4723T>A (p.Tyr1575Asn) c.3277T>A (p.Tyr1093Asn) | |
| 8 | g.41933516A>C | CA371064881 | KAT6A | c.4704T>G (p.Ser1568Arg) c.4710T>G (p.Ser1570Arg) c.3385T>G c.4836T>G (p.Ser1612Arg) c.4815T>G (p.Ser1605Arg) c.4722T>G (p.Ser1574Arg) c.3276T>G (p.Ser1092Arg) | |
| 8 | g.41933516A>G | CA460783171 | KAT6A | c.4704T>C (p.Ser1568=) c.4710T>C (p.Ser1570=) c.3385T>C c.4836T>C (p.Ser1612=) c.4815T>C (p.Ser1605=) c.4722T>C (p.Ser1574=) c.3276T>C (p.Ser1092=) | |
| 8 | g.41933516A>T | CA371064882 | KAT6A | c.4704T>A (p.Ser1568Arg) c.4710T>A (p.Ser1570Arg) c.3385T>A c.4836T>A (p.Ser1612Arg) c.4815T>A (p.Ser1605Arg) c.4722T>A (p.Ser1574Arg) c.3276T>A (p.Ser1092Arg) | |
| 8 | g.41933517C>A | CA371064887 | KAT6A | c.4703G>T (p.Ser1568Ile) c.4709G>T (p.Ser1570Ile) c.3384G>T c.4835G>T (p.Ser1612Ile) c.4814G>T (p.Ser1605Ile) c.4721G>T (p.Ser1574Ile) c.3275G>T (p.Ser1092Ile) | |
| 8 | g.41933517C>G | CA371064889 | KAT6A | c.4703G>C (p.Ser1568Thr) c.4709G>C (p.Ser1570Thr) c.3384G>C c.4835G>C (p.Ser1612Thr) c.4814G>C (p.Ser1605Thr) c.4721G>C (p.Ser1574Thr) c.3275G>C (p.Ser1092Thr) | |
| 8 | g.41933517C>T | CA371064885 | KAT6A | c.4703G>A (p.Ser1568Asn) c.4709G>A (p.Ser1570Asn) c.3384G>A c.4835G>A (p.Ser1612Asn) c.4814G>A (p.Ser1605Asn) c.4721G>A (p.Ser1574Asn) c.3275G>A (p.Ser1092Asn) | |
| 8 | g.41933518T>A | CA371064896 | KAT6A | c.4702A>T (p.Ser1568Cys) c.4708A>T (p.Ser1570Cys) c.3383A>T c.4834A>T (p.Ser1612Cys) c.4813A>T (p.Ser1605Cys) c.4720A>T (p.Ser1574Cys) c.3274A>T (p.Ser1092Cys) | |
| 8 | g.41933518T>C | CA371064892 | KAT6A | c.4702A>G (p.Ser1568Gly) c.4708A>G (p.Ser1570Gly) c.3383A>G c.4834A>G (p.Ser1612Gly) c.4813A>G (p.Ser1605Gly) c.4720A>G (p.Ser1574Gly) c.3274A>G (p.Ser1092Gly) | |
| 8 | g.41933518T>G | CA371064894 | KAT6A | c.4702A>C (p.Ser1568Arg) c.4708A>C (p.Ser1570Arg) c.3383A>C c.4834A>C (p.Ser1612Arg) c.4813A>C (p.Ser1605Arg) c.4720A>C (p.Ser1574Arg) c.3274A>C (p.Ser1092Arg) | |
| 8 | g.41933519G>A | CA460783177 | KAT6A | c.4701C>T (p.Ser1567=) c.4707C>T (p.Ser1569=) c.3382C>T c.4833C>T (p.Ser1611=) c.4812C>T (p.Ser1604=) c.4719C>T (p.Ser1573=) c.3273C>T (p.Ser1091=) | |
| 8 | g.41933519G>C | CA371064898 | KAT6A | c.4701C>G (p.Ser1567Arg) c.4707C>G (p.Ser1569Arg) c.3382C>G c.4833C>G (p.Ser1611Arg) c.4812C>G (p.Ser1604Arg) c.4719C>G (p.Ser1573Arg) c.3273C>G (p.Ser1091Arg) | |
| 8 | g.41933519G>T | CA371064900 | KAT6A | c.4701C>A (p.Ser1567Arg) c.4707C>A (p.Ser1569Arg) c.3382C>A c.4833C>A (p.Ser1611Arg) c.4812C>A (p.Ser1604Arg) c.4719C>A (p.Ser1573Arg) c.3273C>A (p.Ser1091Arg) | |
| 8 | g.41933520C>A | CA371064903 | KAT6A | c.4700G>T (p.Ser1567Ile) c.4706G>T (p.Ser1569Ile) c.3381G>T c.4832G>T (p.Ser1611Ile) c.4811G>T (p.Ser1604Ile) c.4718G>T (p.Ser1573Ile) c.3272G>T (p.Ser1091Ile) | |
| 8 | g.41933520C>G | CA371064904 | KAT6A | c.4700G>C (p.Ser1567Thr) c.4706G>C (p.Ser1569Thr) c.3381G>C c.4832G>C (p.Ser1611Thr) c.4811G>C (p.Ser1604Thr) c.4718G>C (p.Ser1573Thr) c.3272G>C (p.Ser1091Thr) | |
| 8 | g.41933520C>T | CA371064906 | KAT6A | c.4700G>A (p.Ser1567Asn) c.4706G>A (p.Ser1569Asn) c.3381G>A c.4832G>A (p.Ser1611Asn) c.4811G>A (p.Ser1604Asn) c.4718G>A (p.Ser1573Asn) c.3272G>A (p.Ser1091Asn) | |
| 8 | g.41933521T>A | CA371064908 | KAT6A | c.4699A>T (p.Ser1567Cys) c.4705A>T (p.Ser1569Cys) c.3380A>T c.4831A>T (p.Ser1611Cys) c.4810A>T (p.Ser1604Cys) c.4717A>T (p.Ser1573Cys) c.3271A>T (p.Ser1091Cys) | |
| 8 | g.41933521T>C | CA371064910 | KAT6A | c.4699A>G (p.Ser1567Gly) c.4705A>G (p.Ser1569Gly) c.3380A>G c.4831A>G (p.Ser1611Gly) c.4810A>G (p.Ser1604Gly) c.4717A>G (p.Ser1573Gly) c.3271A>G (p.Ser1091Gly) | |
| 8 | g.41933521T>G | CA371064912 | KAT6A | c.4699A>C (p.Ser1567Arg) c.4705A>C (p.Ser1569Arg) c.3380A>C c.4831A>C (p.Ser1611Arg) c.4810A>C (p.Ser1604Arg) c.4717A>C (p.Ser1573Arg) c.3271A>C (p.Ser1091Arg) | |
| 8 | g.41933522T>A | CA460783182 | KAT6A | c.4698A>T (p.Pro1566=) c.4704A>T (p.Pro1568=) c.3379A>T c.4830A>T (p.Pro1610=) c.4809A>T (p.Pro1603=) c.4716A>T (p.Pro1572=) c.3270A>T (p.Pro1090=) | |
| 8 | g.41933522T>C | CA460783184 | KAT6A | c.4698A>G (p.Pro1566=) c.4704A>G (p.Pro1568=) c.3379A>G c.4830A>G (p.Pro1610=) c.4809A>G (p.Pro1603=) c.4716A>G (p.Pro1572=) c.3270A>G (p.Pro1090=) | dbSNP |
| 8 | g.41933522T>G | CA460783186 | KAT6A | c.4698A>C (p.Pro1566=) c.4704A>C (p.Pro1568=) c.3379A>C c.4830A>C (p.Pro1610=) c.4809A>C (p.Pro1603=) c.4716A>C (p.Pro1572=) c.3270A>C (p.Pro1090=) | |
| 8 | g.41933523G>A | CA371064915 | KAT6A | c.4697C>T (p.Pro1566Leu) c.4703C>T (p.Pro1568Leu) c.3378C>T c.4829C>T (p.Pro1610Leu) c.4808C>T (p.Pro1603Leu) c.4715C>T (p.Pro1572Leu) c.3269C>T (p.Pro1090Leu) | |
| 8 | g.41933523G>C | CA371064917 | KAT6A | c.4697C>G (p.Pro1566Arg) c.4703C>G (p.Pro1568Arg) c.3378C>G c.4829C>G (p.Pro1610Arg) c.4808C>G (p.Pro1603Arg) c.4715C>G (p.Pro1572Arg) c.3269C>G (p.Pro1090Arg) | ClinVar dbSNP |
| 8 | g.41933523G= | CA1779195966 | KAT6A | c.4697C= (p.Pro1566=) c.4703C= (p.Pro1568=) c.3378C= c.4829C= (p.Pro1610=) c.4808C= (p.Pro1603=) c.4715C= (p.Pro1572=) c.3269C= (p.Pro1090=) | |
| 8 | g.41933523G>T | CA371064919 | KAT6A | c.4697C>A (p.Pro1566Gln) c.4703C>A (p.Pro1568Gln) c.3378C>A c.4829C>A (p.Pro1610Gln) c.4808C>A (p.Pro1603Gln) c.4715C>A (p.Pro1572Gln) c.3269C>A (p.Pro1090Gln) | |
| 8 | g.41933524G>A | CA371064923 | KAT6A | c.4696C>T (p.Pro1566Ser) c.4702C>T (p.Pro1568Ser) c.3377C>T c.4828C>T (p.Pro1610Ser) c.4807C>T (p.Pro1603Ser) c.4714C>T (p.Pro1572Ser) c.3268C>T (p.Pro1090Ser) | |
| 8 | g.41933524G>C | CA371064926 | KAT6A | c.4696C>G (p.Pro1566Ala) c.4702C>G (p.Pro1568Ala) c.3377C>G c.4828C>G (p.Pro1610Ala) c.4807C>G (p.Pro1603Ala) c.4714C>G (p.Pro1572Ala) c.3268C>G (p.Pro1090Ala) | |
| 8 | g.41933524G= | CA1779195967 | KAT6A | c.4696C= (p.Pro1566=) c.4702C= (p.Pro1568=) c.3377C= c.4828C= (p.Pro1610=) c.4807C= (p.Pro1603=) c.4714C= (p.Pro1572=) c.3268C= (p.Pro1090=) | |
| 8 | g.41933524G>T | CA371064924 | KAT6A | c.4696C>A (p.Pro1566Thr) c.4702C>A (p.Pro1568Thr) c.3377C>A c.4828C>A (p.Pro1610Thr) c.4807C>A (p.Pro1603Thr) c.4714C>A (p.Pro1572Thr) c.3268C>A (p.Pro1090Thr) | dbSNP gnomAD v2 |
| 8 | g.41933525G>A | CA4729440 | KAT6A | c.4695C>T (p.Asn1565=) c.4701C>T (p.Asn1567=) c.3376C>T c.4827C>T (p.Asn1609=) c.4806C>T (p.Asn1602=) c.4713C>T (p.Asn1571=) c.3267C>T (p.Asn1089=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933525G>C | CA371064931 | KAT6A | c.4695C>G (p.Asn1565Lys) c.4701C>G (p.Asn1567Lys) c.3376C>G c.4827C>G (p.Asn1609Lys) c.4806C>G (p.Asn1602Lys) c.4713C>G (p.Asn1571Lys) c.3267C>G (p.Asn1089Lys) | |
| 8 | g.41933525G= | CA1779195968 | KAT6A | c.4695C= (p.Asn1565=) c.4701C= (p.Asn1567=) c.3376C= c.4827C= (p.Asn1609=) c.4806C= (p.Asn1602=) c.4713C= (p.Asn1571=) c.3267C= (p.Asn1089=) | |
| 8 | g.41933525G>T | CA371064933 | KAT6A | c.4695C>A (p.Asn1565Lys) c.4701C>A (p.Asn1567Lys) c.3376C>A c.4827C>A (p.Asn1609Lys) c.4806C>A (p.Asn1602Lys) c.4713C>A (p.Asn1571Lys) c.3267C>A (p.Asn1089Lys) | |
| 8 | g.41933526T>A | CA371064936 | KAT6A | c.4694A>T (p.Asn1565Ile) c.4700A>T (p.Asn1567Ile) c.3375A>T c.4826A>T (p.Asn1609Ile) c.4805A>T (p.Asn1602Ile) c.4712A>T (p.Asn1571Ile) c.3266A>T (p.Asn1089Ile) | |
| 8 | g.41933526T>C | CA371064937 | KAT6A | c.4694A>G (p.Asn1565Ser) c.4700A>G (p.Asn1567Ser) c.3375A>G c.4826A>G (p.Asn1609Ser) c.4805A>G (p.Asn1602Ser) c.4712A>G (p.Asn1571Ser) c.3266A>G (p.Asn1089Ser) | |
| 8 | g.41933526T>G | CA371064940 | KAT6A | c.4694A>C (p.Asn1565Thr) c.4700A>C (p.Asn1567Thr) c.3375A>C c.4826A>C (p.Asn1609Thr) c.4805A>C (p.Asn1602Thr) c.4712A>C (p.Asn1571Thr) c.3266A>C (p.Asn1089Thr) | |
| 8 | g.41933527T>A | CA371064942 | KAT6A | c.4693A>T (p.Asn1565Tyr) c.4699A>T (p.Asn1567Tyr) c.3374A>T c.4825A>T (p.Asn1609Tyr) c.4804A>T (p.Asn1602Tyr) c.4711A>T (p.Asn1571Tyr) c.3265A>T (p.Asn1089Tyr) | |
| 8 | g.41933527T>C | CA371064944 | KAT6A | c.4693A>G (p.Asn1565Asp) c.4699A>G (p.Asn1567Asp) c.3374A>G c.4825A>G (p.Asn1609Asp) c.4804A>G (p.Asn1602Asp) c.4711A>G (p.Asn1571Asp) c.3265A>G (p.Asn1089Asp) | |
| 8 | g.41933527T>G | CA371064946 | KAT6A | c.4693A>C (p.Asn1565His) c.4699A>C (p.Asn1567His) c.3374A>C c.4825A>C (p.Asn1609His) c.4804A>C (p.Asn1602His) c.4711A>C (p.Asn1571His) c.3265A>C (p.Asn1089His) | |
| 8 | g.41933528C>A | CA371064949 | KAT6A | c.4692G>T (p.Glu1564Asp) c.4698G>T (p.Glu1566Asp) c.3373G>T c.4824G>T (p.Glu1608Asp) c.4803G>T (p.Glu1601Asp) c.4710G>T (p.Glu1570Asp) c.3264G>T (p.Glu1088Asp) | COSMIC |
| 8 | g.41933528C= | CA1779195969 | KAT6A | c.4692G= (p.Glu1564=) c.4698G= (p.Glu1566=) c.3373G= c.4824G= (p.Glu1608=) c.4803G= (p.Glu1601=) c.4710G= (p.Glu1570=) c.3264G= (p.Glu1088=) | |
| 8 | g.41933528C>G | CA371064951 | KAT6A | c.4692G>C (p.Glu1564Asp) c.4698G>C (p.Glu1566Asp) c.3373G>C c.4824G>C (p.Glu1608Asp) c.4803G>C (p.Glu1601Asp) c.4710G>C (p.Glu1570Asp) c.3264G>C (p.Glu1088Asp) | |
| 8 | g.41933528C>T | CA460783196 | KAT6A | c.4692G>A (p.Glu1564=) c.4698G>A (p.Glu1566=) c.3373G>A c.4824G>A (p.Glu1608=) c.4803G>A (p.Glu1601=) c.4710G>A (p.Glu1570=) c.3264G>A (p.Glu1088=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933529T>A | CA371064956 | KAT6A | c.4691A>T (p.Glu1564Val) c.4697A>T (p.Glu1566Val) c.3372A>T c.4823A>T (p.Glu1608Val) c.4802A>T (p.Glu1601Val) c.4709A>T (p.Glu1570Val) c.3263A>T (p.Glu1088Val) | |
| 8 | g.41933529T>C | CA371064954 | KAT6A | c.4691A>G (p.Glu1564Gly) c.4697A>G (p.Glu1566Gly) c.3372A>G c.4823A>G (p.Glu1608Gly) c.4802A>G (p.Glu1601Gly) c.4709A>G (p.Glu1570Gly) c.3263A>G (p.Glu1088Gly) | |
| 8 | g.41933529T>G | CA371064952 | KAT6A | c.4691A>C (p.Glu1564Ala) c.4697A>C (p.Glu1566Ala) c.3372A>C c.4823A>C (p.Glu1608Ala) c.4802A>C (p.Glu1601Ala) c.4709A>C (p.Glu1570Ala) c.3263A>C (p.Glu1088Ala) | |
| 8 | g.41933530C>A | CA371064962 | KAT6A | c.4690G>T (p.Glu1564Ter) c.4696G>T (p.Glu1566Ter) c.3371G>T c.4822G>T (p.Glu1608Ter) c.4801G>T (p.Glu1601Ter) c.4708G>T (p.Glu1570Ter) c.3262G>T (p.Glu1088Ter) | |
| 8 | g.41933530C>G | CA371064958 | KAT6A | c.4690G>C (p.Glu1564Gln) c.4696G>C (p.Glu1566Gln) c.3371G>C c.4822G>C (p.Glu1608Gln) c.4801G>C (p.Glu1601Gln) c.4708G>C (p.Glu1570Gln) c.3262G>C (p.Glu1088Gln) | |
| 8 | g.41933530C>T | CA371064960 | KAT6A | c.4690G>A (p.Glu1564Lys) c.4696G>A (p.Glu1566Lys) c.3371G>A c.4822G>A (p.Glu1608Lys) c.4801G>A (p.Glu1601Lys) c.4708G>A (p.Glu1570Lys) c.3262G>A (p.Glu1088Lys) | |
| 8 | g.41933530_41933532delinsCAT | CA1779195970 | KAT6A | c.4688_4690delinsATG (p.Tyr1563=) c.4694_4696delinsATG (p.Tyr1565=) c.3369_3371delinsATG c.4820_4822delinsATG (p.Tyr1607=) c.4799_4801delinsATG (p.Tyr1600=) c.4706_4708delinsATG (p.Tyr1569=) c.3260_3262delinsATG (p.Tyr1087=) | |
| 8 | g.41933531A>C | CA371064966 | KAT6A | c.4689T>G (p.Tyr1563Ter) c.4695T>G (p.Tyr1565Ter) c.3370T>G c.4821T>G (p.Tyr1607Ter) c.4800T>G (p.Tyr1600Ter) c.4707T>G (p.Tyr1569Ter) c.3261T>G (p.Tyr1087Ter) | |
| 8 | g.41933531A>G | CA460783201 | KAT6A | c.4689T>C (p.Tyr1563=) c.4695T>C (p.Tyr1565=) c.3370T>C c.4821T>C (p.Tyr1607=) c.4800T>C (p.Tyr1600=) c.4707T>C (p.Tyr1569=) c.3261T>C (p.Tyr1087=) | gnomAD v4 |
| 8 | g.41933531A>T | CA371064967 | KAT6A | c.4689T>A (p.Tyr1563Ter) c.4695T>A (p.Tyr1565Ter) c.3370T>A c.4821T>A (p.Tyr1607Ter) c.4800T>A (p.Tyr1600Ter) c.4707T>A (p.Tyr1569Ter) c.3261T>A (p.Tyr1087Ter) | |
| 8 | g.41933532_41933533del | CA658771785 | KAT6A | c.4688_4689del (p.Tyr1563Ter) c.4694_4695del (p.Tyr1565Ter) c.3369_3370del c.4820_4821del (p.Tyr1607Ter) c.4799_4800del (p.Tyr1600Ter) c.4706_4707del (p.Tyr1569Ter) c.3260_3261del (p.Tyr1087Ter) | ClinVar dbSNP |
| 8 | g.41933532T>A | CA371064969 | KAT6A | c.4688A>T (p.Tyr1563Phe) c.4694A>T (p.Tyr1565Phe) c.3369A>T c.4820A>T (p.Tyr1607Phe) c.4799A>T (p.Tyr1600Phe) c.4706A>T (p.Tyr1569Phe) c.3260A>T (p.Tyr1087Phe) | ClinVar dbSNP |
| 8 | g.41933532T>C | CA371064971 | KAT6A | c.4688A>G (p.Tyr1563Cys) c.4694A>G (p.Tyr1565Cys) c.3369A>G c.4820A>G (p.Tyr1607Cys) c.4799A>G (p.Tyr1600Cys) c.4706A>G (p.Tyr1569Cys) c.3260A>G (p.Tyr1087Cys) | |
| 8 | g.41933532T>G | CA371064973 | KAT6A | c.4688A>C (p.Tyr1563Ser) c.4694A>C (p.Tyr1565Ser) c.3369A>C c.4820A>C (p.Tyr1607Ser) c.4799A>C (p.Tyr1600Ser) c.4706A>C (p.Tyr1569Ser) c.3260A>C (p.Tyr1087Ser) | |
| 8 | g.41933532T= | CA1779195971 | KAT6A | c.4688A= (p.Tyr1563=) c.4694A= (p.Tyr1565=) c.3369A= c.4820A= (p.Tyr1607=) c.4799A= (p.Tyr1600=) c.4706A= (p.Tyr1569=) c.3260A= (p.Tyr1087=) | |
| 8 | g.41933533A>C | CA371064976 | KAT6A | c.4687T>G (p.Tyr1563Asp) c.4693T>G (p.Tyr1565Asp) c.3368T>G c.4819T>G (p.Tyr1607Asp) c.4798T>G (p.Tyr1600Asp) c.4705T>G (p.Tyr1569Asp) c.3259T>G (p.Tyr1087Asp) | |
| 8 | g.41933533A>G | CA371064978 | KAT6A | c.4687T>C (p.Tyr1563His) c.4693T>C (p.Tyr1565His) c.3368T>C c.4819T>C (p.Tyr1607His) c.4798T>C (p.Tyr1600His) c.4705T>C (p.Tyr1569His) c.3259T>C (p.Tyr1087His) | |
| 8 | g.41933533A>T | CA371064980 | KAT6A | c.4687T>A (p.Tyr1563Asn) c.4693T>A (p.Tyr1565Asn) c.3368T>A c.4819T>A (p.Tyr1607Asn) c.4798T>A (p.Tyr1600Asn) c.4705T>A (p.Tyr1569Asn) c.3259T>A (p.Tyr1087Asn) | |
| 8 | g.41933534G>A | CA460783209 | KAT6A | c.4686C>T (p.Asn1562=) c.4692C>T (p.Asn1564=) c.3367C>T c.4818C>T (p.Asn1606=) c.4797C>T (p.Asn1599=) c.4704C>T (p.Asn1568=) c.3258C>T (p.Asn1086=) | gnomAD v4 |
| 8 | g.41933534G>C | CA371064982 | KAT6A | c.4686C>G (p.Asn1562Lys) c.4692C>G (p.Asn1564Lys) c.3367C>G c.4818C>G (p.Asn1606Lys) c.4797C>G (p.Asn1599Lys) c.4704C>G (p.Asn1568Lys) c.3258C>G (p.Asn1086Lys) | |
| 8 | g.41933534G>T | CA371064985 | KAT6A | c.4686C>A (p.Asn1562Lys) c.4692C>A (p.Asn1564Lys) c.3367C>A c.4818C>A (p.Asn1606Lys) c.4797C>A (p.Asn1599Lys) c.4704C>A (p.Asn1568Lys) c.3258C>A (p.Asn1086Lys) | |
| 8 | g.41933535T>A | CA371064990 | KAT6A | c.4685A>T (p.Asn1562Ile) c.4691A>T (p.Asn1564Ile) c.3366A>T c.4817A>T (p.Asn1606Ile) c.4796A>T (p.Asn1599Ile) c.4703A>T (p.Asn1568Ile) c.3257A>T (p.Asn1086Ile) | |
| 8 | g.41933535T>C | CA371064991 | KAT6A | c.4685A>G (p.Asn1562Ser) c.4691A>G (p.Asn1564Ser) c.3366A>G c.4817A>G (p.Asn1606Ser) c.4796A>G (p.Asn1599Ser) c.4703A>G (p.Asn1568Ser) c.3257A>G (p.Asn1086Ser) | |
| 8 | g.41933535T>G | CA371064988 | KAT6A | c.4685A>C (p.Asn1562Thr) c.4691A>C (p.Asn1564Thr) c.3366A>C c.4817A>C (p.Asn1606Thr) c.4796A>C (p.Asn1599Thr) c.4703A>C (p.Asn1568Thr) c.3257A>C (p.Asn1086Thr) | |
| 8 | g.41933536T>A | CA371064992 | KAT6A | c.4684A>T (p.Asn1562Tyr) c.4690A>T (p.Asn1564Tyr) c.3365A>T c.4816A>T (p.Asn1606Tyr) c.4795A>T (p.Asn1599Tyr) c.4702A>T (p.Asn1568Tyr) c.3256A>T (p.Asn1086Tyr) | |
| 8 | g.41933536T>C | CA371064994 | KAT6A | c.4684A>G (p.Asn1562Asp) c.4690A>G (p.Asn1564Asp) c.3365A>G c.4816A>G (p.Asn1606Asp) c.4795A>G (p.Asn1599Asp) c.4702A>G (p.Asn1568Asp) c.3256A>G (p.Asn1086Asp) | |
| 8 | g.41933536T>G | CA371064996 | KAT6A | c.4684A>C (p.Asn1562His) c.4690A>C (p.Asn1564His) c.3365A>C c.4816A>C (p.Asn1606His) c.4795A>C (p.Asn1599His) c.4702A>C (p.Asn1568His) c.3256A>C (p.Asn1086His) | |
| 8 | g.41933537T>A | CA371064998 | KAT6A | c.4683A>T (p.Glu1561Asp) c.4689A>T (p.Glu1563Asp) c.3364A>T c.4815A>T (p.Glu1605Asp) c.4794A>T (p.Glu1598Asp) c.4701A>T (p.Glu1567Asp) c.3255A>T (p.Glu1085Asp) | |
| 8 | g.41933537T>C | CA460783213 | KAT6A | c.4683A>G (p.Glu1561=) c.4689A>G (p.Glu1563=) c.3364A>G c.4815A>G (p.Glu1605=) c.4794A>G (p.Glu1598=) c.4701A>G (p.Glu1567=) c.3255A>G (p.Glu1085=) | |
| 8 | g.41933537T>G | CA371065000 | KAT6A | c.4683A>C (p.Glu1561Asp) c.4689A>C (p.Glu1563Asp) c.3364A>C c.4815A>C (p.Glu1605Asp) c.4794A>C (p.Glu1598Asp) c.4701A>C (p.Glu1567Asp) c.3255A>C (p.Glu1085Asp) | |
| 8 | g.41933538T>A | CA371065003 | KAT6A | c.4682A>T (p.Glu1561Val) c.4688A>T (p.Glu1563Val) c.3363A>T c.4814A>T (p.Glu1605Val) c.4793A>T (p.Glu1598Val) c.4700A>T (p.Glu1567Val) c.3254A>T (p.Glu1085Val) | |
| 8 | g.41933538T>C | CA371065001 | KAT6A | c.4682A>G (p.Glu1561Gly) c.4688A>G (p.Glu1563Gly) c.3363A>G c.4814A>G (p.Glu1605Gly) c.4793A>G (p.Glu1598Gly) c.4700A>G (p.Glu1567Gly) c.3254A>G (p.Glu1085Gly) | |
| 8 | g.41933538T>G | CA371065002 | KAT6A | c.4682A>C (p.Glu1561Ala) c.4688A>C (p.Glu1563Ala) c.3363A>C c.4814A>C (p.Glu1605Ala) c.4793A>C (p.Glu1598Ala) c.4700A>C (p.Glu1567Ala) c.3254A>C (p.Glu1085Ala) | |
| 8 | g.41933539C>A | CA371065005 | KAT6A | c.4681G>T (p.Glu1561Ter) c.4687G>T (p.Glu1563Ter) c.3362G>T c.4813G>T (p.Glu1605Ter) c.4792G>T (p.Glu1598Ter) c.4699G>T (p.Glu1567Ter) c.3253G>T (p.Glu1085Ter) | |
| 8 | g.41933539C>G | CA371065007 | KAT6A | c.4681G>C (p.Glu1561Gln) c.4687G>C (p.Glu1563Gln) c.3362G>C c.4813G>C (p.Glu1605Gln) c.4792G>C (p.Glu1598Gln) c.4699G>C (p.Glu1567Gln) c.3253G>C (p.Glu1085Gln) | |
| 8 | g.41933539C>T | CA371065008 | KAT6A | c.4681G>A (p.Glu1561Lys) c.4687G>A (p.Glu1563Lys) c.3362G>A c.4813G>A (p.Glu1605Lys) c.4792G>A (p.Glu1598Lys) c.4699G>A (p.Glu1567Lys) c.3253G>A (p.Glu1085Lys) | |
| 8 | g.41933540A= | CA1779195972 | KAT6A | c.4680T= (p.Thr1560=) c.4686T= (p.Thr1562=) c.3361T= c.4812T= (p.Thr1604=) c.4791T= (p.Thr1597=) c.4698T= (p.Thr1566=) c.3252T= (p.Thr1084=) | |
| 8 | g.41933540A>C | CA460783221 | KAT6A | c.4680T>G (p.Thr1560=) c.4686T>G (p.Thr1562=) c.3361T>G c.4812T>G (p.Thr1604=) c.4791T>G (p.Thr1597=) c.4698T>G (p.Thr1566=) c.3252T>G (p.Thr1084=) | dbSNP |
| 8 | g.41933540A>G | CA460783222 | KAT6A | c.4680T>C (p.Thr1560=) c.4686T>C (p.Thr1562=) c.3361T>C c.4812T>C (p.Thr1604=) c.4791T>C (p.Thr1597=) c.4698T>C (p.Thr1566=) c.3252T>C (p.Thr1084=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933540A>T | CA460783223 | KAT6A | c.4680T>A (p.Thr1560=) c.4686T>A (p.Thr1562=) c.3361T>A c.4812T>A (p.Thr1604=) c.4791T>A (p.Thr1597=) c.4698T>A (p.Thr1566=) c.3252T>A (p.Thr1084=) | |
| 8 | g.41933541G>A | CA371065011 | KAT6A | c.4679C>T (p.Thr1560Ile) c.4685C>T (p.Thr1562Ile) c.3360C>T c.4811C>T (p.Thr1604Ile) c.4790C>T (p.Thr1597Ile) c.4697C>T (p.Thr1566Ile) c.3251C>T (p.Thr1084Ile) | |
| 8 | g.41933541G>C | CA371065013 | KAT6A | c.4679C>G (p.Thr1560Ser) c.4685C>G (p.Thr1562Ser) c.3360C>G c.4811C>G (p.Thr1604Ser) c.4790C>G (p.Thr1597Ser) c.4697C>G (p.Thr1566Ser) c.3251C>G (p.Thr1084Ser) | |
| 8 | g.41933541G>T | CA371065014 | KAT6A | c.4679C>A (p.Thr1560Asn) c.4685C>A (p.Thr1562Asn) c.3360C>A c.4811C>A (p.Thr1604Asn) c.4790C>A (p.Thr1597Asn) c.4697C>A (p.Thr1566Asn) c.3251C>A (p.Thr1084Asn) | |
| 8 | g.41933542T>A | CA371065020 | KAT6A | c.4678A>T (p.Thr1560Ser) c.4684A>T (p.Thr1562Ser) c.3359A>T c.4810A>T (p.Thr1604Ser) c.4789A>T (p.Thr1597Ser) c.4696A>T (p.Thr1566Ser) c.3250A>T (p.Thr1084Ser) | |
| 8 | g.41933542T>C | CA4729441 | KAT6A | c.4678A>G (p.Thr1560Ala) c.4684A>G (p.Thr1562Ala) c.3359A>G c.4810A>G (p.Thr1604Ala) c.4789A>G (p.Thr1597Ala) c.4696A>G (p.Thr1566Ala) c.3250A>G (p.Thr1084Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933542T>G | CA371065018 | KAT6A | c.4678A>C (p.Thr1560Pro) c.4684A>C (p.Thr1562Pro) c.3359A>C c.4810A>C (p.Thr1604Pro) c.4789A>C (p.Thr1597Pro) c.4696A>C (p.Thr1566Pro) c.3250A>C (p.Thr1084Pro) | |
| 8 | g.41933542T= | CA1779195973 | KAT6A | c.4678A= (p.Thr1560=) c.4684A= (p.Thr1562=) c.3359A= c.4810A= (p.Thr1604=) c.4789A= (p.Thr1597=) c.4696A= (p.Thr1566=) c.3250A= (p.Thr1084=) | |
| 8 | g.41933543G>A | CA460783227 | KAT6A | c.4677C>T (p.Thr1559=) c.4683C>T (p.Thr1561=) c.3358C>T c.4809C>T (p.Thr1603=) c.4788C>T (p.Thr1596=) c.4695C>T (p.Thr1565=) c.3249C>T (p.Thr1083=) | ClinVar gnomAD v4 |
| 8 | g.41933543G>C | CA460783228 | KAT6A | c.4677C>G (p.Thr1559=) c.4683C>G (p.Thr1561=) c.3358C>G c.4809C>G (p.Thr1603=) c.4788C>G (p.Thr1596=) c.4695C>G (p.Thr1565=) c.3249C>G (p.Thr1083=) | |
| 8 | g.41933543G>T | CA460783230 | KAT6A | c.4677C>A (p.Thr1559=) c.4683C>A (p.Thr1561=) c.3358C>A c.4809C>A (p.Thr1603=) c.4788C>A (p.Thr1596=) c.4695C>A (p.Thr1565=) c.3249C>A (p.Thr1083=) | |
| 8 | g.41933544G>A | CA371065023 | KAT6A | c.4676C>T (p.Thr1559Ile) c.4682C>T (p.Thr1561Ile) c.3357C>T c.4808C>T (p.Thr1603Ile) c.4787C>T (p.Thr1596Ile) c.4694C>T (p.Thr1565Ile) c.3248C>T (p.Thr1083Ile) | gnomAD v4 |
| 8 | g.41933544G>C | CA371065027 | KAT6A | c.4676C>G (p.Thr1559Ser) c.4682C>G (p.Thr1561Ser) c.3357C>G c.4808C>G (p.Thr1603Ser) c.4787C>G (p.Thr1596Ser) c.4694C>G (p.Thr1565Ser) c.3248C>G (p.Thr1083Ser) | |
| 8 | g.41933544G>T | CA371065025 | KAT6A | c.4676C>A (p.Thr1559Asn) c.4682C>A (p.Thr1561Asn) c.3357C>A c.4808C>A (p.Thr1603Asn) c.4787C>A (p.Thr1596Asn) c.4694C>A (p.Thr1565Asn) c.3248C>A (p.Thr1083Asn) | |
| 8 | g.41933545T>A | CA371065030 | KAT6A | c.4675A>T (p.Thr1559Ser) c.4681A>T (p.Thr1561Ser) c.3356A>T c.4807A>T (p.Thr1603Ser) c.4786A>T (p.Thr1596Ser) c.4693A>T (p.Thr1565Ser) c.3247A>T (p.Thr1083Ser) | |
| 8 | g.41933545T>C | CA371065032 | KAT6A | c.4675A>G (p.Thr1559Ala) c.4681A>G (p.Thr1561Ala) c.3356A>G c.4807A>G (p.Thr1603Ala) c.4786A>G (p.Thr1596Ala) c.4693A>G (p.Thr1565Ala) c.3247A>G (p.Thr1083Ala) | |
| 8 | g.41933545T>G | CA371065034 | KAT6A | c.4675A>C (p.Thr1559Pro) c.4681A>C (p.Thr1561Pro) c.3356A>C c.4807A>C (p.Thr1603Pro) c.4786A>C (p.Thr1596Pro) c.4693A>C (p.Thr1565Pro) c.3247A>C (p.Thr1083Pro) | |
| 8 | g.41933546G>A | CA460783238 | KAT6A | c.4674C>T (p.Ser1558=) c.4680C>T (p.Ser1560=) c.3355C>T c.4806C>T (p.Ser1602=) c.4785C>T (p.Ser1595=) c.4692C>T (p.Ser1564=) c.3246C>T (p.Ser1082=) | |
| 8 | g.41933546G>C | CA371065037 | KAT6A | c.4674C>G (p.Ser1558Arg) c.4680C>G (p.Ser1560Arg) c.3355C>G c.4806C>G (p.Ser1602Arg) c.4785C>G (p.Ser1595Arg) c.4692C>G (p.Ser1564Arg) c.3246C>G (p.Ser1082Arg) | |
| 8 | g.41933546G>T | CA371065039 | KAT6A | c.4674C>A (p.Ser1558Arg) c.4680C>A (p.Ser1560Arg) c.3355C>A c.4806C>A (p.Ser1602Arg) c.4785C>A (p.Ser1595Arg) c.4692C>A (p.Ser1564Arg) c.3246C>A (p.Ser1082Arg) | ClinVar |
| 8 | g.41933547C>A | CA371065042 | KAT6A | c.4673G>T (p.Ser1558Ile) c.4679G>T (p.Ser1560Ile) c.3354G>T c.4805G>T (p.Ser1602Ile) c.4784G>T (p.Ser1595Ile) c.4691G>T (p.Ser1564Ile) c.3245G>T (p.Ser1082Ile) | |
| 8 | g.41933547C>G | CA371065043 | KAT6A | c.4673G>C (p.Ser1558Thr) c.4679G>C (p.Ser1560Thr) c.3354G>C c.4805G>C (p.Ser1602Thr) c.4784G>C (p.Ser1595Thr) c.4691G>C (p.Ser1564Thr) c.3245G>C (p.Ser1082Thr) | |
| 8 | g.41933547C>T | CA371065045 | KAT6A | c.4673G>A (p.Ser1558Asn) c.4679G>A (p.Ser1560Asn) c.3354G>A c.4805G>A (p.Ser1602Asn) c.4784G>A (p.Ser1595Asn) c.4691G>A (p.Ser1564Asn) c.3245G>A (p.Ser1082Asn) | ClinVar COSMIC |
| 8 | g.41933548T>A | CA371065047 | KAT6A | c.4672A>T (p.Ser1558Cys) c.4678A>T (p.Ser1560Cys) c.3353A>T c.4804A>T (p.Ser1602Cys) c.4783A>T (p.Ser1595Cys) c.4690A>T (p.Ser1564Cys) c.3244A>T (p.Ser1082Cys) | |
| 8 | g.41933548T>C | CA371065050 | KAT6A | c.4672A>G (p.Ser1558Gly) c.4678A>G (p.Ser1560Gly) c.3353A>G c.4804A>G (p.Ser1602Gly) c.4783A>G (p.Ser1595Gly) c.4690A>G (p.Ser1564Gly) c.3244A>G (p.Ser1082Gly) | |
| 8 | g.41933548T>G | CA371065052 | KAT6A | c.4672A>C (p.Ser1558Arg) c.4678A>C (p.Ser1560Arg) c.3353A>C c.4804A>C (p.Ser1602Arg) c.4783A>C (p.Ser1595Arg) c.4690A>C (p.Ser1564Arg) c.3244A>C (p.Ser1082Arg) | |
| 8 | g.41933549C>A | CA371065057 | KAT6A | c.4671G>T (p.Glu1557Asp) c.4677G>T (p.Glu1559Asp) c.3352G>T c.4803G>T (p.Glu1601Asp) c.4782G>T (p.Glu1594Asp) c.4689G>T (p.Glu1563Asp) c.3243G>T (p.Glu1081Asp) | |
| 8 | g.41933549C= | CA1779195974 | KAT6A | c.4671G= (p.Glu1557=) c.4677G= (p.Glu1559=) c.3352G= c.4803G= (p.Glu1601=) c.4782G= (p.Glu1594=) c.4689G= (p.Glu1563=) c.3243G= (p.Glu1081=) | |
| 8 | g.41933549C>G | CA371065055 | KAT6A | c.4671G>C (p.Glu1557Asp) c.4677G>C (p.Glu1559Asp) c.3352G>C c.4803G>C (p.Glu1601Asp) c.4782G>C (p.Glu1594Asp) c.4689G>C (p.Glu1563Asp) c.3243G>C (p.Glu1081Asp) | |
| 8 | g.41933549C>T | CA4729442 | KAT6A | c.4671G>A (p.Glu1557=) c.4677G>A (p.Glu1559=) c.3352G>A c.4803G>A (p.Glu1601=) c.4782G>A (p.Glu1594=) c.4689G>A (p.Glu1563=) c.3243G>A (p.Glu1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933550T>A | CA371065059 | KAT6A | c.4670A>T (p.Glu1557Val) c.4676A>T (p.Glu1559Val) c.3351A>T c.4802A>T (p.Glu1601Val) c.4781A>T (p.Glu1594Val) c.4688A>T (p.Glu1563Val) c.3242A>T (p.Glu1081Val) | |
| 8 | g.41933550T>C | CA371065061 | KAT6A | c.4670A>G (p.Glu1557Gly) c.4676A>G (p.Glu1559Gly) c.3351A>G c.4802A>G (p.Glu1601Gly) c.4781A>G (p.Glu1594Gly) c.4688A>G (p.Glu1563Gly) c.3242A>G (p.Glu1081Gly) | |
| 8 | g.41933550T>G | CA371065063 | KAT6A | c.4670A>C (p.Glu1557Ala) c.4676A>C (p.Glu1559Ala) c.3351A>C c.4802A>C (p.Glu1601Ala) c.4781A>C (p.Glu1594Ala) c.4688A>C (p.Glu1563Ala) c.3242A>C (p.Glu1081Ala) | |
| 8 | g.41933551C>A | CA371065065 | KAT6A | c.4669G>T (p.Glu1557Ter) c.4675G>T (p.Glu1559Ter) c.3350G>T c.4801G>T (p.Glu1601Ter) c.4780G>T (p.Glu1594Ter) c.4687G>T (p.Glu1563Ter) c.3241G>T (p.Glu1081Ter) | |
| 8 | g.41933551C>G | CA371065067 | KAT6A | c.4669G>C (p.Glu1557Gln) c.4675G>C (p.Glu1559Gln) c.3350G>C c.4801G>C (p.Glu1601Gln) c.4780G>C (p.Glu1594Gln) c.4687G>C (p.Glu1563Gln) c.3241G>C (p.Glu1081Gln) | |
| 8 | g.41933551C>T | CA371065069 | KAT6A | c.4669G>A (p.Glu1557Lys) c.4675G>A (p.Glu1559Lys) c.3350G>A c.4801G>A (p.Glu1601Lys) c.4780G>A (p.Glu1594Lys) c.4687G>A (p.Glu1563Lys) c.3241G>A (p.Glu1081Lys) | ClinVar |
| 8 | g.41933552A>C | CA371065071 | KAT6A | c.4668T>G (p.Ile1556Met) c.4674T>G (p.Ile1558Met) c.3349T>G c.4800T>G (p.Ile1600Met) c.4779T>G (p.Ile1593Met) c.4686T>G (p.Ile1562Met) c.3240T>G (p.Ile1080Met) | |
| 8 | g.41933552A>G | CA460783244 | KAT6A | c.4668T>C (p.Ile1556=) c.4674T>C (p.Ile1558=) c.3349T>C c.4800T>C (p.Ile1600=) c.4779T>C (p.Ile1593=) c.4686T>C (p.Ile1562=) c.3240T>C (p.Ile1080=) | |
| 8 | g.41933552A>T | CA460783245 | KAT6A | c.4668T>A (p.Ile1556=) c.4674T>A (p.Ile1558=) c.3349T>A c.4800T>A (p.Ile1600=) c.4779T>A (p.Ile1593=) c.4686T>A (p.Ile1562=) c.3240T>A (p.Ile1080=) | |
| 8 | g.41933553A>C | CA371065074 | KAT6A | c.4667T>G (p.Ile1556Ser) c.4673T>G (p.Ile1558Ser) c.3348T>G c.4799T>G (p.Ile1600Ser) c.4778T>G (p.Ile1593Ser) c.4685T>G (p.Ile1562Ser) c.3239T>G (p.Ile1080Ser) | |
| 8 | g.41933553A>G | CA371065075 | KAT6A | c.4667T>C (p.Ile1556Thr) c.4673T>C (p.Ile1558Thr) c.3348T>C c.4799T>C (p.Ile1600Thr) c.4778T>C (p.Ile1593Thr) c.4685T>C (p.Ile1562Thr) c.3239T>C (p.Ile1080Thr) | ClinVar |
| 8 | g.41933553A>T | CA371065078 | KAT6A | c.4667T>A (p.Ile1556Asn) c.4673T>A (p.Ile1558Asn) c.3348T>A c.4799T>A (p.Ile1600Asn) c.4778T>A (p.Ile1593Asn) c.4685T>A (p.Ile1562Asn) c.3239T>A (p.Ile1080Asn) | |
| 8 | g.41933554T>A | CA371065080 | KAT6A | c.4666A>T (p.Ile1556Phe) c.4672A>T (p.Ile1558Phe) c.3347A>T c.4798A>T (p.Ile1600Phe) c.4777A>T (p.Ile1593Phe) c.4684A>T (p.Ile1562Phe) c.3238A>T (p.Ile1080Phe) | ClinVar dbSNP |
| 8 | g.41933554T>C | CA371065083 | KAT6A | c.4666A>G (p.Ile1556Val) c.4672A>G (p.Ile1558Val) c.3347A>G c.4798A>G (p.Ile1600Val) c.4777A>G (p.Ile1593Val) c.4684A>G (p.Ile1562Val) c.3238A>G (p.Ile1080Val) | |
| 8 | g.41933554T>G | CA371065085 | KAT6A | c.4666A>C (p.Ile1556Leu) c.4672A>C (p.Ile1558Leu) c.3347A>C c.4798A>C (p.Ile1600Leu) c.4777A>C (p.Ile1593Leu) c.4684A>C (p.Ile1562Leu) c.3238A>C (p.Ile1080Leu) | |
| 8 | g.41933554T= | CA1779195975 | KAT6A | c.4666A= (p.Ile1556=) c.4672A= (p.Ile1558=) c.3347A= c.4798A= (p.Ile1600=) c.4777A= (p.Ile1593=) c.4684A= (p.Ile1562=) c.3238A= (p.Ile1080=) | |
| 8 | g.41933555G>A | CA460783249 | KAT6A | c.4665C>T (p.Ser1555=) c.4671C>T (p.Ser1557=) c.3346C>T c.4797C>T (p.Ser1599=) c.4776C>T (p.Ser1592=) c.4683C>T (p.Ser1561=) c.3237C>T (p.Ser1079=) | |
| 8 | g.41933555G>C | CA371065088 | KAT6A | c.4665C>G (p.Ser1555Arg) c.4671C>G (p.Ser1557Arg) c.3346C>G c.4797C>G (p.Ser1599Arg) c.4776C>G (p.Ser1592Arg) c.4683C>G (p.Ser1561Arg) c.3237C>G (p.Ser1079Arg) | |
| 8 | g.41933555G>T | CA371065090 | KAT6A | c.4665C>A (p.Ser1555Arg) c.4671C>A (p.Ser1557Arg) c.3346C>A c.4797C>A (p.Ser1599Arg) c.4776C>A (p.Ser1592Arg) c.4683C>A (p.Ser1561Arg) c.3237C>A (p.Ser1079Arg) | |
| 8 | g.41933556C>A | CA371065091 | KAT6A | c.4664G>T (p.Ser1555Ile) c.4670G>T (p.Ser1557Ile) c.3345G>T c.4796G>T (p.Ser1599Ile) c.4775G>T (p.Ser1592Ile) c.4682G>T (p.Ser1561Ile) c.3236G>T (p.Ser1079Ile) | |
| 8 | g.41933556C= | CA1779195976 | KAT6A | c.4664G= (p.Ser1555=) c.4670G= (p.Ser1557=) c.3345G= c.4796G= (p.Ser1599=) c.4775G= (p.Ser1592=) c.4682G= (p.Ser1561=) c.3236G= (p.Ser1079=) | |
| 8 | g.41933556C>G | CA371065092 | KAT6A | c.4664G>C (p.Ser1555Thr) c.4670G>C (p.Ser1557Thr) c.3345G>C c.4796G>C (p.Ser1599Thr) c.4775G>C (p.Ser1592Thr) c.4682G>C (p.Ser1561Thr) c.3236G>C (p.Ser1079Thr) | |
| 8 | g.41933556C>T | CA371065094 | KAT6A | c.4664G>A (p.Ser1555Asn) c.4670G>A (p.Ser1557Asn) c.3345G>A c.4796G>A (p.Ser1599Asn) c.4775G>A (p.Ser1592Asn) c.4682G>A (p.Ser1561Asn) c.3236G>A (p.Ser1079Asn) | ClinVar dbSNP |
| 8 | g.41933557T>A | CA371065097 | KAT6A | c.4663A>T (p.Ser1555Cys) c.4669A>T (p.Ser1557Cys) c.3344A>T c.4795A>T (p.Ser1599Cys) c.4774A>T (p.Ser1592Cys) c.4681A>T (p.Ser1561Cys) c.3235A>T (p.Ser1079Cys) | |
| 8 | g.41933557T>C | CA371065099 | KAT6A | c.4663A>G (p.Ser1555Gly) c.4669A>G (p.Ser1557Gly) c.3344A>G c.4795A>G (p.Ser1599Gly) c.4774A>G (p.Ser1592Gly) c.4681A>G (p.Ser1561Gly) c.3235A>G (p.Ser1079Gly) | |
| 8 | g.41933557T>G | CA371065101 | KAT6A | c.4663A>C (p.Ser1555Arg) c.4669A>C (p.Ser1557Arg) c.3344A>C c.4795A>C (p.Ser1599Arg) c.4774A>C (p.Ser1592Arg) c.4681A>C (p.Ser1561Arg) c.3235A>C (p.Ser1079Arg) | |
| 8 | g.41933558G>A | CA460783264 | KAT6A | c.4662C>T (p.Gly1554=) c.4668C>T (p.Gly1556=) c.3343C>T c.4794C>T (p.Gly1598=) c.4773C>T (p.Gly1591=) c.4680C>T (p.Gly1560=) c.3234C>T (p.Gly1078=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933558G>C | CA460783266 | KAT6A | c.4662C>G (p.Gly1554=) c.4668C>G (p.Gly1556=) c.3343C>G c.4794C>G (p.Gly1598=) c.4773C>G (p.Gly1591=) c.4680C>G (p.Gly1560=) c.3234C>G (p.Gly1078=) | |
| 8 | g.41933558G= | CA1779195977 | KAT6A | c.4662C= (p.Gly1554=) c.4668C= (p.Gly1556=) c.3343C= c.4794C= (p.Gly1598=) c.4773C= (p.Gly1591=) c.4680C= (p.Gly1560=) c.3234C= (p.Gly1078=) | |
| 8 | g.41933558G>T | CA460783269 | KAT6A | c.4662C>A (p.Gly1554=) c.4668C>A (p.Gly1556=) c.3343C>A c.4794C>A (p.Gly1598=) c.4773C>A (p.Gly1591=) c.4680C>A (p.Gly1560=) c.3234C>A (p.Gly1078=) | |
| 8 | g.41933559C>A | CA371065104 | KAT6A | c.4661G>T (p.Gly1554Val) c.4667G>T (p.Gly1556Val) c.3342G>T c.4793G>T (p.Gly1598Val) c.4772G>T (p.Gly1591Val) c.4679G>T (p.Gly1560Val) c.3233G>T (p.Gly1078Val) | |
| 8 | g.41933559C>G | CA371065106 | KAT6A | c.4661G>C (p.Gly1554Ala) c.4667G>C (p.Gly1556Ala) c.3342G>C c.4793G>C (p.Gly1598Ala) c.4772G>C (p.Gly1591Ala) c.4679G>C (p.Gly1560Ala) c.3233G>C (p.Gly1078Ala) | |
| 8 | g.41933559C>T | CA371065108 | KAT6A | c.4661G>A (p.Gly1554Asp) c.4667G>A (p.Gly1556Asp) c.3342G>A c.4793G>A (p.Gly1598Asp) c.4772G>A (p.Gly1591Asp) c.4679G>A (p.Gly1560Asp) c.3233G>A (p.Gly1078Asp) | |
| 8 | g.41933560C>A | CA371065110 | KAT6A | c.4660G>T (p.Gly1554Cys) c.4666G>T (p.Gly1556Cys) c.3341G>T c.4792G>T (p.Gly1598Cys) c.4771G>T (p.Gly1591Cys) c.4678G>T (p.Gly1560Cys) c.3232G>T (p.Gly1078Cys) | COSMIC |
| 8 | g.41933560C>G | CA371065112 | KAT6A | c.4660G>C (p.Gly1554Arg) c.4666G>C (p.Gly1556Arg) c.3341G>C c.4792G>C (p.Gly1598Arg) c.4771G>C (p.Gly1591Arg) c.4678G>C (p.Gly1560Arg) c.3232G>C (p.Gly1078Arg) | |
| 8 | g.41933560C>T | CA371065114 | KAT6A | c.4660G>A (p.Gly1554Ser) c.4666G>A (p.Gly1556Ser) c.3341G>A c.4792G>A (p.Gly1598Ser) c.4771G>A (p.Gly1591Ser) c.4678G>A (p.Gly1560Ser) c.3232G>A (p.Gly1078Ser) | |
| 8 | g.41933561C>A | CA460783275 | KAT6A | c.4659G>T (p.Leu1553=) c.4665G>T (p.Leu1555=) c.3340G>T c.4791G>T (p.Leu1597=) c.4770G>T (p.Leu1590=) c.4677G>T (p.Leu1559=) c.3231G>T (p.Leu1077=) | |
| 8 | g.41933561C= | CA1779195978 | KAT6A | c.4659G= (p.Leu1553=) c.4665G= (p.Leu1555=) c.3340G= c.4791G= (p.Leu1597=) c.4770G= (p.Leu1590=) c.4677G= (p.Leu1559=) c.3231G= (p.Leu1077=) | |
| 8 | g.41933561C>G | CA460783276 | KAT6A | c.4659G>C (p.Leu1553=) c.4665G>C (p.Leu1555=) c.3340G>C c.4791G>C (p.Leu1597=) c.4770G>C (p.Leu1590=) c.4677G>C (p.Leu1559=) c.3231G>C (p.Leu1077=) | |
| 8 | g.41933561C>T | CA175939197 | KAT6A | c.4659G>A (p.Leu1553=) c.4665G>A (p.Leu1555=) c.3340G>A c.4791G>A (p.Leu1597=) c.4770G>A (p.Leu1590=) c.4677G>A (p.Leu1559=) c.3231G>A (p.Leu1077=) | dbSNP |
| 8 | g.41933562A>C | CA371065120 | KAT6A | c.4658T>G (p.Leu1553Arg) c.4664T>G (p.Leu1555Arg) c.3339T>G c.4790T>G (p.Leu1597Arg) c.4769T>G (p.Leu1590Arg) c.4676T>G (p.Leu1559Arg) c.3230T>G (p.Leu1077Arg) | |
| 8 | g.41933562A>G | CA371065118 | KAT6A | c.4658T>C (p.Leu1553Pro) c.4664T>C (p.Leu1555Pro) c.3339T>C c.4790T>C (p.Leu1597Pro) c.4769T>C (p.Leu1590Pro) c.4676T>C (p.Leu1559Pro) c.3230T>C (p.Leu1077Pro) | ClinVar |
| 8 | g.41933562A>T | CA371065117 | KAT6A | c.4658T>A (p.Leu1553Gln) c.4664T>A (p.Leu1555Gln) c.3339T>A c.4790T>A (p.Leu1597Gln) c.4769T>A (p.Leu1590Gln) c.4676T>A (p.Leu1559Gln) c.3230T>A (p.Leu1077Gln) | |
| 8 | g.41933563G>A | CA460783285 | KAT6A | c.4657C>T (p.Leu1553=) c.4663C>T (p.Leu1555=) c.3338C>T c.4789C>T (p.Leu1597=) c.4768C>T (p.Leu1590=) c.4675C>T (p.Leu1559=) c.3229C>T (p.Leu1077=) | dbSNP |
| 8 | g.41933563G>C | CA371065121 | KAT6A | c.4657C>G (p.Leu1553Val) c.4663C>G (p.Leu1555Val) c.3338C>G c.4789C>G (p.Leu1597Val) c.4768C>G (p.Leu1590Val) c.4675C>G (p.Leu1559Val) c.3229C>G (p.Leu1077Val) | |
| 8 | g.41933563G= | CA1779195979 | KAT6A | c.4657C= (p.Leu1553=) c.4663C= (p.Leu1555=) c.3338C= c.4789C= (p.Leu1597=) c.4768C= (p.Leu1590=) c.4675C= (p.Leu1559=) c.3229C= (p.Leu1077=) | |
| 8 | g.41933563G>T | CA371065124 | KAT6A | c.4657C>A (p.Leu1553Met) c.4663C>A (p.Leu1555Met) c.3338C>A c.4789C>A (p.Leu1597Met) c.4768C>A (p.Leu1590Met) c.4675C>A (p.Leu1559Met) c.3229C>A (p.Leu1077Met) | |
| 8 | g.41933564G>A | CA460783286 | KAT6A | c.4656C>T (p.Asp1552=) c.4662C>T (p.Asp1554=) c.3337C>T c.4788C>T (p.Asp1596=) c.4767C>T (p.Asp1589=) c.4674C>T (p.Asp1558=) c.3228C>T (p.Asp1076=) | gnomAD v4 |
| 8 | g.41933564G>C | CA371065125 | KAT6A | c.4656C>G (p.Asp1552Glu) c.4662C>G (p.Asp1554Glu) c.3337C>G c.4788C>G (p.Asp1596Glu) c.4767C>G (p.Asp1589Glu) c.4674C>G (p.Asp1558Glu) c.3228C>G (p.Asp1076Glu) | |
| 8 | g.41933564G>T | CA371065126 | KAT6A | c.4656C>A (p.Asp1552Glu) c.4662C>A (p.Asp1554Glu) c.3337C>A c.4788C>A (p.Asp1596Glu) c.4767C>A (p.Asp1589Glu) c.4674C>A (p.Asp1558Glu) c.3228C>A (p.Asp1076Glu) | |
| 8 | g.41933565T>A | CA371065127 | KAT6A | c.4655A>T (p.Asp1552Val) c.4661A>T (p.Asp1554Val) c.3336A>T c.4787A>T (p.Asp1596Val) c.4766A>T (p.Asp1589Val) c.4673A>T (p.Asp1558Val) c.3227A>T (p.Asp1076Val) | |
| 8 | g.41933565T>C | CA371065128 | KAT6A | c.4655A>G (p.Asp1552Gly) c.4661A>G (p.Asp1554Gly) c.3336A>G c.4787A>G (p.Asp1596Gly) c.4766A>G (p.Asp1589Gly) c.4673A>G (p.Asp1558Gly) c.3227A>G (p.Asp1076Gly) | |
| 8 | g.41933565T>G | CA371065129 | KAT6A | c.4655A>C (p.Asp1552Ala) c.4661A>C (p.Asp1554Ala) c.3336A>C c.4787A>C (p.Asp1596Ala) c.4766A>C (p.Asp1589Ala) c.4673A>C (p.Asp1558Ala) c.3227A>C (p.Asp1076Ala) | ClinVar |
| 8 | g.41933566C>A | CA371065130 | KAT6A | c.4654G>T (p.Asp1552Tyr) c.4660G>T (p.Asp1554Tyr) c.3335G>T c.4786G>T (p.Asp1596Tyr) c.4765G>T (p.Asp1589Tyr) c.4672G>T (p.Asp1558Tyr) c.3226G>T (p.Asp1076Tyr) | COSMIC |
| 8 | g.41933566C>G | CA371065132 | KAT6A | c.4654G>C (p.Asp1552His) c.4660G>C (p.Asp1554His) c.3335G>C c.4786G>C (p.Asp1596His) c.4765G>C (p.Asp1589His) c.4672G>C (p.Asp1558His) c.3226G>C (p.Asp1076His) | |
| 8 | g.41933566C>T | CA371065133 | KAT6A | c.4654G>A (p.Asp1552Asn) c.4660G>A (p.Asp1554Asn) c.3335G>A c.4786G>A (p.Asp1596Asn) c.4765G>A (p.Asp1589Asn) c.4672G>A (p.Asp1558Asn) c.3226G>A (p.Asp1076Asn) | gnomAD v4 |
| 8 | g.41933567A>C | CA371065134 | KAT6A | c.4653T>G (p.Ser1551Arg) c.4659T>G (p.Ser1553Arg) c.3334T>G c.4785T>G (p.Ser1595Arg) c.4764T>G (p.Ser1588Arg) c.4671T>G (p.Ser1557Arg) c.3225T>G (p.Ser1075Arg) | |
| 8 | g.41933567A>G | CA460783294 | KAT6A | c.4653T>C (p.Ser1551=) c.4659T>C (p.Ser1553=) c.3334T>C c.4785T>C (p.Ser1595=) c.4764T>C (p.Ser1588=) c.4671T>C (p.Ser1557=) c.3225T>C (p.Ser1075=) | |
| 8 | g.41933567A>T | CA371065135 | KAT6A | c.4653T>A (p.Ser1551Arg) c.4659T>A (p.Ser1553Arg) c.3334T>A c.4785T>A (p.Ser1595Arg) c.4764T>A (p.Ser1588Arg) c.4671T>A (p.Ser1557Arg) c.3225T>A (p.Ser1075Arg) | |
| 8 | g.41933568C>A | CA371065138 | KAT6A | c.4652G>T (p.Ser1551Ile) c.4658G>T (p.Ser1553Ile) c.3333G>T c.4784G>T (p.Ser1595Ile) c.4763G>T (p.Ser1588Ile) c.4670G>T (p.Ser1557Ile) c.3224G>T (p.Ser1075Ile) | |
| 8 | g.41933568C>G | CA371065137 | KAT6A | c.4652G>C (p.Ser1551Thr) c.4658G>C (p.Ser1553Thr) c.3333G>C c.4784G>C (p.Ser1595Thr) c.4763G>C (p.Ser1588Thr) c.4670G>C (p.Ser1557Thr) c.3224G>C (p.Ser1075Thr) | |
| 8 | g.41933568C>T | CA371065136 | KAT6A | c.4652G>A (p.Ser1551Asn) c.4658G>A (p.Ser1553Asn) c.3333G>A c.4784G>A (p.Ser1595Asn) c.4763G>A (p.Ser1588Asn) c.4670G>A (p.Ser1557Asn) c.3224G>A (p.Ser1075Asn) | |
| 8 | g.41933569T>A | CA371065139 | KAT6A | c.4651A>T (p.Ser1551Cys) c.4657A>T (p.Ser1553Cys) c.3332A>T c.4783A>T (p.Ser1595Cys) c.4762A>T (p.Ser1588Cys) c.4669A>T (p.Ser1557Cys) c.3223A>T (p.Ser1075Cys) | |
| 8 | g.41933569T>C | CA371065141 | KAT6A | c.4651A>G (p.Ser1551Gly) c.4657A>G (p.Ser1553Gly) c.3332A>G c.4783A>G (p.Ser1595Gly) c.4762A>G (p.Ser1588Gly) c.4669A>G (p.Ser1557Gly) c.3223A>G (p.Ser1075Gly) | COSMIC |
| 8 | g.41933569T>G | CA371065140 | KAT6A | c.4651A>C (p.Ser1551Arg) c.4657A>C (p.Ser1553Arg) c.3332A>C c.4783A>C (p.Ser1595Arg) c.4762A>C (p.Ser1588Arg) c.4669A>C (p.Ser1557Arg) c.3223A>C (p.Ser1075Arg) | |
| 8 | g.41933570G>A | CA460783301 | KAT6A | c.4650C>T (p.Phe1550=) c.4656C>T (p.Phe1552=) c.3331C>T c.4782C>T (p.Phe1594=) c.4761C>T (p.Phe1587=) c.4668C>T (p.Phe1556=) c.3222C>T (p.Phe1074=) | gnomAD v4 |
| 8 | g.41933570G>C | CA371065142 | KAT6A | c.4650C>G (p.Phe1550Leu) c.4656C>G (p.Phe1552Leu) c.3331C>G c.4782C>G (p.Phe1594Leu) c.4761C>G (p.Phe1587Leu) c.4668C>G (p.Phe1556Leu) c.3222C>G (p.Phe1074Leu) | |
| 8 | g.41933570G>T | CA371065143 | KAT6A | c.4650C>A (p.Phe1550Leu) c.4656C>A (p.Phe1552Leu) c.3331C>A c.4782C>A (p.Phe1594Leu) c.4761C>A (p.Phe1587Leu) c.4668C>A (p.Phe1556Leu) c.3222C>A (p.Phe1074Leu) | |
| 8 | g.41933571A>C | CA371065144 | KAT6A | c.4649T>G (p.Phe1550Cys) c.4655T>G (p.Phe1552Cys) c.3330T>G c.4781T>G (p.Phe1594Cys) c.4760T>G (p.Phe1587Cys) c.4667T>G (p.Phe1556Cys) c.3221T>G (p.Phe1074Cys) | |
| 8 | g.41933571A>G | CA371065145 | KAT6A | c.4649T>C (p.Phe1550Ser) c.4655T>C (p.Phe1552Ser) c.3330T>C c.4781T>C (p.Phe1594Ser) c.4760T>C (p.Phe1587Ser) c.4667T>C (p.Phe1556Ser) c.3221T>C (p.Phe1074Ser) | |
| 8 | g.41933571A>T | CA371065146 | KAT6A | c.4649T>A (p.Phe1550Tyr) c.4655T>A (p.Phe1552Tyr) c.3330T>A c.4781T>A (p.Phe1594Tyr) c.4760T>A (p.Phe1587Tyr) c.4667T>A (p.Phe1556Tyr) c.3221T>A (p.Phe1074Tyr) | |
| 8 | g.41933572A= | CA1779195980 | KAT6A | c.4648T= (p.Phe1550=) c.4654T= (p.Phe1552=) c.3329T= c.4780T= (p.Phe1594=) c.4759T= (p.Phe1587=) c.4666T= (p.Phe1556=) c.3220T= (p.Phe1074=) | |
| 8 | g.41933572A>C | CA371065147 | KAT6A | c.4648T>G (p.Phe1550Val) c.4654T>G (p.Phe1552Val) c.3329T>G c.4780T>G (p.Phe1594Val) c.4759T>G (p.Phe1587Val) c.4666T>G (p.Phe1556Val) c.3220T>G (p.Phe1074Val) | |
| 8 | g.41933572A>G | CA371065148 | KAT6A | c.4648T>C (p.Phe1550Leu) c.4654T>C (p.Phe1552Leu) c.3329T>C c.4780T>C (p.Phe1594Leu) c.4759T>C (p.Phe1587Leu) c.4666T>C (p.Phe1556Leu) c.3220T>C (p.Phe1074Leu) | |
| 8 | g.41933572A>T | CA371065149 | KAT6A | c.4648T>A (p.Phe1550Ile) c.4654T>A (p.Phe1552Ile) c.3329T>A c.4780T>A (p.Phe1594Ile) c.4759T>A (p.Phe1587Ile) c.4666T>A (p.Phe1556Ile) c.3220T>A (p.Phe1074Ile) | dbSNP |
| 8 | g.41933573G>A | CA460783307 | KAT6A | c.4647C>T (p.Gly1549=) c.4653C>T (p.Gly1551=) c.3328C>T c.4779C>T (p.Gly1593=) c.4758C>T (p.Gly1586=) c.4665C>T (p.Gly1555=) c.3219C>T (p.Gly1073=) | |
| 8 | g.41933573G>C | CA460783308 | KAT6A | c.4647C>G (p.Gly1549=) c.4653C>G (p.Gly1551=) c.3328C>G c.4779C>G (p.Gly1593=) c.4758C>G (p.Gly1586=) c.4665C>G (p.Gly1555=) c.3219C>G (p.Gly1073=) | |
| 8 | g.41933573G>T | CA460783309 | KAT6A | c.4647C>A (p.Gly1549=) c.4653C>A (p.Gly1551=) c.3328C>A c.4779C>A (p.Gly1593=) c.4758C>A (p.Gly1586=) c.4665C>A (p.Gly1555=) c.3219C>A (p.Gly1073=) | |
| 8 | g.41933574C>A | CA371065150 | KAT6A | c.4646G>T (p.Gly1549Val) c.4652G>T (p.Gly1551Val) c.3327G>T c.4778G>T (p.Gly1593Val) c.4757G>T (p.Gly1586Val) c.4664G>T (p.Gly1555Val) c.3218G>T (p.Gly1073Val) | |
| 8 | g.41933574C>G | CA371065151 | KAT6A | c.4646G>C (p.Gly1549Ala) c.4652G>C (p.Gly1551Ala) c.3327G>C c.4778G>C (p.Gly1593Ala) c.4757G>C (p.Gly1586Ala) c.4664G>C (p.Gly1555Ala) c.3218G>C (p.Gly1073Ala) | |
| 8 | g.41933574C>T | CA371065152 | KAT6A | c.4646G>A (p.Gly1549Asp) c.4652G>A (p.Gly1551Asp) c.3327G>A c.4778G>A (p.Gly1593Asp) c.4757G>A (p.Gly1586Asp) c.4664G>A (p.Gly1555Asp) c.3218G>A (p.Gly1073Asp) | |
| 8 | g.41933575C>A | CA371065154 | KAT6A | c.4645G>T (p.Gly1549Cys) c.4651G>T (p.Gly1551Cys) c.3326G>T c.4777G>T (p.Gly1593Cys) c.4756G>T (p.Gly1586Cys) c.4663G>T (p.Gly1555Cys) c.3217G>T (p.Gly1073Cys) | |
| 8 | g.41933575C= | CA1779195981 | KAT6A | c.4645G= (p.Gly1549=) c.4651G= (p.Gly1551=) c.3326G= c.4777G= (p.Gly1593=) c.4756G= (p.Gly1586=) c.4663G= (p.Gly1555=) c.3217G= (p.Gly1073=) | |
| 8 | g.41933575C>G | CA371065153 | KAT6A | c.4645G>C (p.Gly1549Arg) c.4651G>C (p.Gly1551Arg) c.3326G>C c.4777G>C (p.Gly1593Arg) c.4756G>C (p.Gly1586Arg) c.4663G>C (p.Gly1555Arg) c.3217G>C (p.Gly1073Arg) | |
| 8 | g.41933575C>T | CA16618636 | KAT6A | c.4645G>A (p.Gly1549Ser) c.4651G>A (p.Gly1551Ser) c.3326G>A c.4777G>A (p.Gly1593Ser) c.4756G>A (p.Gly1586Ser) c.4663G>A (p.Gly1555Ser) c.3217G>A (p.Gly1073Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.41933576G>A | CA4729443 | KAT6A | c.4644C>T (p.Ser1548=) c.4650C>T (p.Ser1550=) c.3325C>T c.4776C>T (p.Ser1592=) c.4755C>T (p.Ser1585=) c.4662C>T (p.Ser1554=) c.3216C>T (p.Ser1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933576G>C | CA371065155 | KAT6A | c.4644C>G (p.Ser1548Arg) c.4650C>G (p.Ser1550Arg) c.3325C>G c.4776C>G (p.Ser1592Arg) c.4755C>G (p.Ser1585Arg) c.4662C>G (p.Ser1554Arg) c.3216C>G (p.Ser1072Arg) | |
| 8 | g.41933576G= | CA1779195982 | KAT6A | c.4644C= (p.Ser1548=) c.4650C= (p.Ser1550=) c.3325C= c.4776C= (p.Ser1592=) c.4755C= (p.Ser1585=) c.4662C= (p.Ser1554=) c.3216C= (p.Ser1072=) | |
| 8 | g.41933576G>T | CA371065156 | KAT6A | c.4644C>A (p.Ser1548Arg) c.4650C>A (p.Ser1550Arg) c.3325C>A c.4776C>A (p.Ser1592Arg) c.4755C>A (p.Ser1585Arg) c.4662C>A (p.Ser1554Arg) c.3216C>A (p.Ser1072Arg) | |
| 8 | g.41933577C>A | CA371065157 | KAT6A | c.4643G>T (p.Ser1548Ile) c.4649G>T (p.Ser1550Ile) c.3324G>T c.4775G>T (p.Ser1592Ile) c.4754G>T (p.Ser1585Ile) c.4661G>T (p.Ser1554Ile) c.3215G>T (p.Ser1072Ile) | |
| 8 | g.41933577C>G | CA371065158 | KAT6A | c.4643G>C (p.Ser1548Thr) c.4649G>C (p.Ser1550Thr) c.3324G>C c.4775G>C (p.Ser1592Thr) c.4754G>C (p.Ser1585Thr) c.4661G>C (p.Ser1554Thr) c.3215G>C (p.Ser1072Thr) | |
| 8 | g.41933577C>T | CA371065159 | KAT6A | c.4643G>A (p.Ser1548Asn) c.4649G>A (p.Ser1550Asn) c.3324G>A c.4775G>A (p.Ser1592Asn) c.4754G>A (p.Ser1585Asn) c.4661G>A (p.Ser1554Asn) c.3215G>A (p.Ser1072Asn) | ClinVar |
| 8 | g.41933578T>A | CA371065160 | KAT6A | c.4642A>T (p.Ser1548Cys) c.4648A>T (p.Ser1550Cys) c.3323A>T c.4774A>T (p.Ser1592Cys) c.4753A>T (p.Ser1585Cys) c.4660A>T (p.Ser1554Cys) c.3214A>T (p.Ser1072Cys) | |
| 8 | g.41933578T>C | CA371065161 | KAT6A | c.4642A>G (p.Ser1548Gly) c.4648A>G (p.Ser1550Gly) c.3323A>G c.4774A>G (p.Ser1592Gly) c.4753A>G (p.Ser1585Gly) c.4660A>G (p.Ser1554Gly) c.3214A>G (p.Ser1072Gly) | |
| 8 | g.41933578T>G | CA371065162 | KAT6A | c.4642A>C (p.Ser1548Arg) c.4648A>C (p.Ser1550Arg) c.3323A>C c.4774A>C (p.Ser1592Arg) c.4753A>C (p.Ser1585Arg) c.4660A>C (p.Ser1554Arg) c.3214A>C (p.Ser1072Arg) | |
| 8 | g.41933579G>A | CA175939216 | KAT6A | c.4641C>T (p.Asp1547=) c.4647C>T (p.Asp1549=) c.3322C>T c.4773C>T (p.Asp1591=) c.4752C>T (p.Asp1584=) c.4659C>T (p.Asp1553=) c.3213C>T (p.Asp1071=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933579G>C | CA371065165 | KAT6A | c.4641C>G (p.Asp1547Glu) c.4647C>G (p.Asp1549Glu) c.3322C>G c.4773C>G (p.Asp1591Glu) c.4752C>G (p.Asp1584Glu) c.4659C>G (p.Asp1553Glu) c.3213C>G (p.Asp1071Glu) | |
| 8 | g.41933579G= | CA1779195983 | KAT6A | c.4641C= (p.Asp1547=) c.4647C= (p.Asp1549=) c.3322C= c.4773C= (p.Asp1591=) c.4752C= (p.Asp1584=) c.4659C= (p.Asp1553=) c.3213C= (p.Asp1071=) | |
| 8 | g.41933579G>T | CA371065167 | KAT6A | c.4641C>A (p.Asp1547Glu) c.4647C>A (p.Asp1549Glu) c.3322C>A c.4773C>A (p.Asp1591Glu) c.4752C>A (p.Asp1584Glu) c.4659C>A (p.Asp1553Glu) c.3213C>A (p.Asp1071Glu) | |
| 8 | g.41933580T>A | CA371065177 | KAT6A | c.4640A>T (p.Asp1547Val) c.4646A>T (p.Asp1549Val) c.3321A>T c.4772A>T (p.Asp1591Val) c.4751A>T (p.Asp1584Val) c.4658A>T (p.Asp1553Val) c.3212A>T (p.Asp1071Val) | |
| 8 | g.41933580T>C | CA371065175 | KAT6A | c.4640A>G (p.Asp1547Gly) c.4646A>G (p.Asp1549Gly) c.3321A>G c.4772A>G (p.Asp1591Gly) c.4751A>G (p.Asp1584Gly) c.4658A>G (p.Asp1553Gly) c.3212A>G (p.Asp1071Gly) | |
| 8 | g.41933580T>G | CA371065170 | KAT6A | c.4640A>C (p.Asp1547Ala) c.4646A>C (p.Asp1549Ala) c.3321A>C c.4772A>C (p.Asp1591Ala) c.4751A>C (p.Asp1584Ala) c.4658A>C (p.Asp1553Ala) c.3212A>C (p.Asp1071Ala) | |
| 8 | g.41933581C>A | CA371065184 | KAT6A | c.4639G>T (p.Asp1547Tyr) c.4645G>T (p.Asp1549Tyr) c.3320G>T c.4771G>T (p.Asp1591Tyr) c.4750G>T (p.Asp1584Tyr) c.4657G>T (p.Asp1553Tyr) c.3211G>T (p.Asp1071Tyr) | COSMIC |
| 8 | g.41933581C>G | CA371065180 | KAT6A | c.4639G>C (p.Asp1547His) c.4645G>C (p.Asp1549His) c.3320G>C c.4771G>C (p.Asp1591His) c.4750G>C (p.Asp1584His) c.4657G>C (p.Asp1553His) c.3211G>C (p.Asp1071His) | |
| 8 | g.41933581C>T | CA371065182 | KAT6A | c.4639G>A (p.Asp1547Asn) c.4645G>A (p.Asp1549Asn) c.3320G>A c.4771G>A (p.Asp1591Asn) c.4750G>A (p.Asp1584Asn) c.4657G>A (p.Asp1553Asn) c.3211G>A (p.Asp1071Asn) | |
| 8 | g.41933582C>A | CA460783325 | KAT6A | c.4638G>T (p.Val1546=) c.4644G>T (p.Val1548=) c.3319G>T c.4770G>T (p.Val1590=) c.4749G>T (p.Val1583=) c.4656G>T (p.Val1552=) c.3210G>T (p.Val1070=) | |
| 8 | g.41933582C= | CA1779195984 | KAT6A | c.4638G= (p.Val1546=) c.4644G= (p.Val1548=) c.3319G= c.4770G= (p.Val1590=) c.4749G= (p.Val1583=) c.4656G= (p.Val1552=) c.3210G= (p.Val1070=) | |
| 8 | g.41933582C>G | CA460783324 | KAT6A | c.4638G>C (p.Val1546=) c.4644G>C (p.Val1548=) c.3319G>C c.4770G>C (p.Val1590=) c.4749G>C (p.Val1583=) c.4656G>C (p.Val1552=) c.3210G>C (p.Val1070=) | |
| 8 | g.41933582C>T | CA4729444 | KAT6A | c.4638G>A (p.Val1546=) c.4644G>A (p.Val1548=) c.3319G>A c.4770G>A (p.Val1590=) c.4749G>A (p.Val1583=) c.4656G>A (p.Val1552=) c.3210G>A (p.Val1070=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933583A>C | CA371065188 | KAT6A | c.4637T>G (p.Val1546Gly) c.4643T>G (p.Val1548Gly) c.3318T>G c.4769T>G (p.Val1590Gly) c.4748T>G (p.Val1583Gly) c.4655T>G (p.Val1552Gly) c.3209T>G (p.Val1070Gly) | |
| 8 | g.41933583A>G | CA371065190 | KAT6A | c.4637T>C (p.Val1546Ala) c.4643T>C (p.Val1548Ala) c.3318T>C c.4769T>C (p.Val1590Ala) c.4748T>C (p.Val1583Ala) c.4655T>C (p.Val1552Ala) c.3209T>C (p.Val1070Ala) | ClinVar gnomAD v4 |
| 8 | g.41933583A>T | CA371065192 | KAT6A | c.4637T>A (p.Val1546Glu) c.4643T>A (p.Val1548Glu) c.3318T>A c.4769T>A (p.Val1590Glu) c.4748T>A (p.Val1583Glu) c.4655T>A (p.Val1552Glu) c.3209T>A (p.Val1070Glu) | |
| 8 | g.41933584C>A | CA371065196 | KAT6A | c.4636G>T (p.Val1546Leu) c.4642G>T (p.Val1548Leu) c.3317G>T c.4768G>T (p.Val1590Leu) c.4747G>T (p.Val1583Leu) c.4654G>T (p.Val1552Leu) c.3208G>T (p.Val1070Leu) | |
| 8 | g.41933584C>G | CA371065197 | KAT6A | c.4636G>C (p.Val1546Leu) c.4642G>C (p.Val1548Leu) c.3317G>C c.4768G>C (p.Val1590Leu) c.4747G>C (p.Val1583Leu) c.4654G>C (p.Val1552Leu) c.3208G>C (p.Val1070Leu) | |
| 8 | g.41933584C>T | CA371065198 | KAT6A | c.4636G>A (p.Val1546Met) c.4642G>A (p.Val1548Met) c.3317G>A c.4768G>A (p.Val1590Met) c.4747G>A (p.Val1583Met) c.4654G>A (p.Val1552Met) c.3208G>A (p.Val1070Met) | |
| 8 | g.41933585C>A | CA460783331 | KAT6A | c.4635G>T (p.Val1545=) c.4641G>T (p.Val1547=) c.3316G>T c.4767G>T (p.Val1589=) c.4746G>T (p.Val1582=) c.4653G>T (p.Val1551=) c.3207G>T (p.Val1069=) | |
| 8 | g.41933585C= | CA1779195985 | KAT6A | c.4635G= (p.Val1545=) c.4641G= (p.Val1547=) c.3316G= c.4767G= (p.Val1589=) c.4746G= (p.Val1582=) c.4653G= (p.Val1551=) c.3207G= (p.Val1069=) | |
| 8 | g.41933585C>G | CA4729445 | KAT6A | c.4635G>C (p.Val1545=) c.4641G>C (p.Val1547=) c.3316G>C c.4767G>C (p.Val1589=) c.4746G>C (p.Val1582=) c.4653G>C (p.Val1551=) c.3207G>C (p.Val1069=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933585C>T | CA460783329 | KAT6A | c.4635G>A (p.Val1545=) c.4641G>A (p.Val1547=) c.3316G>A c.4767G>A (p.Val1589=) c.4746G>A (p.Val1582=) c.4653G>A (p.Val1551=) c.3207G>A (p.Val1069=) | |
| 8 | g.41933586A>C | CA371065202 | KAT6A | c.4634T>G (p.Val1545Gly) c.4640T>G (p.Val1547Gly) c.3315T>G c.4766T>G (p.Val1589Gly) c.4745T>G (p.Val1582Gly) c.4652T>G (p.Val1551Gly) c.3206T>G (p.Val1069Gly) | |
| 8 | g.41933586A>G | CA371065205 | KAT6A | c.4634T>C (p.Val1545Ala) c.4640T>C (p.Val1547Ala) c.3315T>C c.4766T>C (p.Val1589Ala) c.4745T>C (p.Val1582Ala) c.4652T>C (p.Val1551Ala) c.3206T>C (p.Val1069Ala) | |
| 8 | g.41933586A>T | CA371065207 | KAT6A | c.4634T>A (p.Val1545Glu) c.4640T>A (p.Val1547Glu) c.3315T>A c.4766T>A (p.Val1589Glu) c.4745T>A (p.Val1582Glu) c.4652T>A (p.Val1551Glu) c.3206T>A (p.Val1069Glu) | |
| 8 | g.41933587C>A | CA371065214 | KAT6A | c.4633G>T (p.Val1545Leu) c.4639G>T (p.Val1547Leu) c.3314G>T c.4765G>T (p.Val1589Leu) c.4744G>T (p.Val1582Leu) c.4651G>T (p.Val1551Leu) c.3205G>T (p.Val1069Leu) | |
| 8 | g.41933587C= | CA1779195986 | KAT6A | c.4633G= (p.Val1545=) c.4639G= (p.Val1547=) c.3314G= c.4765G= (p.Val1589=) c.4744G= (p.Val1582=) c.4651G= (p.Val1551=) c.3205G= (p.Val1069=) | |
| 8 | g.41933587C>G | CA371065210 | KAT6A | c.4633G>C (p.Val1545Leu) c.4639G>C (p.Val1547Leu) c.3314G>C c.4765G>C (p.Val1589Leu) c.4744G>C (p.Val1582Leu) c.4651G>C (p.Val1551Leu) c.3205G>C (p.Val1069Leu) | |
| 8 | g.41933587C>T | CA371065212 | KAT6A | c.4633G>A (p.Val1545Met) c.4639G>A (p.Val1547Met) c.3314G>A c.4765G>A (p.Val1589Met) c.4744G>A (p.Val1582Met) c.4651G>A (p.Val1551Met) c.3205G>A (p.Val1069Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933588C>A | CA371065216 | KAT6A | c.4632G>T (p.Gln1544His) c.4638G>T (p.Gln1546His) c.3313G>T c.4764G>T (p.Gln1588His) c.4743G>T (p.Gln1581His) c.4650G>T (p.Gln1550His) c.3204G>T (p.Gln1068His) | |
| 8 | g.41933588C>G | CA371065218 | KAT6A | c.4632G>C (p.Gln1544His) c.4638G>C (p.Gln1546His) c.3313G>C c.4764G>C (p.Gln1588His) c.4743G>C (p.Gln1581His) c.4650G>C (p.Gln1550His) c.3204G>C (p.Gln1068His) | |
| 8 | g.41933588C>T | CA460783338 | KAT6A | c.4632G>A (p.Gln1544=) c.4638G>A (p.Gln1546=) c.3313G>A c.4764G>A (p.Gln1588=) c.4743G>A (p.Gln1581=) c.4650G>A (p.Gln1550=) c.3204G>A (p.Gln1068=) | gnomAD v4 |
| 8 | g.41933589T>A | CA371065220 | KAT6A | c.4631A>T (p.Gln1544Leu) c.4637A>T (p.Gln1546Leu) c.3312A>T c.4763A>T (p.Gln1588Leu) c.4742A>T (p.Gln1581Leu) c.4649A>T (p.Gln1550Leu) c.3203A>T (p.Gln1068Leu) | |
| 8 | g.41933589T>C | CA371065222 | KAT6A | c.4631A>G (p.Gln1544Arg) c.4637A>G (p.Gln1546Arg) c.3312A>G c.4763A>G (p.Gln1588Arg) c.4742A>G (p.Gln1581Arg) c.4649A>G (p.Gln1550Arg) c.3203A>G (p.Gln1068Arg) | |
| 8 | g.41933589T>G | CA371065224 | KAT6A | c.4631A>C (p.Gln1544Pro) c.4637A>C (p.Gln1546Pro) c.3312A>C c.4763A>C (p.Gln1588Pro) c.4742A>C (p.Gln1581Pro) c.4649A>C (p.Gln1550Pro) c.3203A>C (p.Gln1068Pro) | |
| 8 | g.41933590G>A | CA371065226 | KAT6A | c.4630C>T (p.Gln1544Ter) c.4636C>T (p.Gln1546Ter) c.3311C>T c.4762C>T (p.Gln1588Ter) c.4741C>T (p.Gln1581Ter) c.4648C>T (p.Gln1550Ter) c.3202C>T (p.Gln1068Ter) | |
| 8 | g.41933590G>C | CA371065229 | KAT6A | c.4630C>G (p.Gln1544Glu) c.4636C>G (p.Gln1546Glu) c.3311C>G c.4762C>G (p.Gln1588Glu) c.4741C>G (p.Gln1581Glu) c.4648C>G (p.Gln1550Glu) c.3202C>G (p.Gln1068Glu) | |
| 8 | g.41933590G>T | CA371065231 | KAT6A | c.4630C>A (p.Gln1544Lys) c.4636C>A (p.Gln1546Lys) c.3311C>A c.4762C>A (p.Gln1588Lys) c.4741C>A (p.Gln1581Lys) c.4648C>A (p.Gln1550Lys) c.3202C>A (p.Gln1068Lys) |