| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933629G>A | CA371065422 | KAT6A | c.4591C>T (p.Pro1531Ser) c.4597C>T (p.Pro1533Ser) c.3272C>T c.4723C>T (p.Pro1575Ser) c.4702C>T (p.Pro1568Ser) c.4609C>T (p.Pro1537Ser) c.3163C>T (p.Pro1055Ser) | |
| 8 | g.41933629G>C | CA371065423 | KAT6A | c.4591C>G (p.Pro1531Ala) c.4597C>G (p.Pro1533Ala) c.3272C>G c.4723C>G (p.Pro1575Ala) c.4702C>G (p.Pro1568Ala) c.4609C>G (p.Pro1537Ala) c.3163C>G (p.Pro1055Ala) | |
| 8 | g.41933629G>T | CA371065424 | KAT6A | c.4591C>A (p.Pro1531Thr) c.4597C>A (p.Pro1533Thr) c.3272C>A c.4723C>A (p.Pro1575Thr) c.4702C>A (p.Pro1568Thr) c.4609C>A (p.Pro1537Thr) c.3163C>A (p.Pro1055Thr) | gnomAD v4 |
| 8 | g.41933630G>A | CA460783573 | KAT6A | c.4590C>T (p.Ser1530=) c.4596C>T (p.Ser1532=) c.3271C>T c.4722C>T (p.Ser1574=) c.4701C>T (p.Ser1567=) c.4608C>T (p.Ser1536=) c.3162C>T (p.Ser1054=) | |
| 8 | g.41933630G>C | CA371065427 | KAT6A | c.4590C>G (p.Ser1530Arg) c.4596C>G (p.Ser1532Arg) c.3271C>G c.4722C>G (p.Ser1574Arg) c.4701C>G (p.Ser1567Arg) c.4608C>G (p.Ser1536Arg) c.3162C>G (p.Ser1054Arg) | |
| 8 | g.41933630G>T | CA371065429 | KAT6A | c.4590C>A (p.Ser1530Arg) c.4596C>A (p.Ser1532Arg) c.3271C>A c.4722C>A (p.Ser1574Arg) c.4701C>A (p.Ser1567Arg) c.4608C>A (p.Ser1536Arg) c.3162C>A (p.Ser1054Arg) | |
| 8 | g.41933631C>A | CA371065431 | KAT6A | c.4589G>T (p.Ser1530Ile) c.4595G>T (p.Ser1532Ile) c.3270G>T c.4721G>T (p.Ser1574Ile) c.4700G>T (p.Ser1567Ile) c.4607G>T (p.Ser1536Ile) c.3161G>T (p.Ser1054Ile) | |
| 8 | g.41933631C>G | CA371065434 | KAT6A | c.4589G>C (p.Ser1530Thr) c.4595G>C (p.Ser1532Thr) c.3270G>C c.4721G>C (p.Ser1574Thr) c.4700G>C (p.Ser1567Thr) c.4607G>C (p.Ser1536Thr) c.3161G>C (p.Ser1054Thr) | |
| 8 | g.41933631C>T | CA371065436 | KAT6A | c.4589G>A (p.Ser1530Asn) c.4595G>A (p.Ser1532Asn) c.3270G>A c.4721G>A (p.Ser1574Asn) c.4700G>A (p.Ser1567Asn) c.4607G>A (p.Ser1536Asn) c.3161G>A (p.Ser1054Asn) | |
| 8 | g.41933632T>A | CA371065438 | KAT6A | c.4588A>T (p.Ser1530Cys) c.4594A>T (p.Ser1532Cys) c.3269A>T c.4720A>T (p.Ser1574Cys) c.4699A>T (p.Ser1567Cys) c.4606A>T (p.Ser1536Cys) c.3160A>T (p.Ser1054Cys) | |
| 8 | g.41933632T>C | CA371065440 | KAT6A | c.4588A>G (p.Ser1530Gly) c.4594A>G (p.Ser1532Gly) c.3269A>G c.4720A>G (p.Ser1574Gly) c.4699A>G (p.Ser1567Gly) c.4606A>G (p.Ser1536Gly) c.3160A>G (p.Ser1054Gly) | |
| 8 | g.41933632T>G | CA371065442 | KAT6A | c.4588A>C (p.Ser1530Arg) c.4594A>C (p.Ser1532Arg) c.3269A>C c.4720A>C (p.Ser1574Arg) c.4699A>C (p.Ser1567Arg) c.4606A>C (p.Ser1536Arg) c.3160A>C (p.Ser1054Arg) | |
| 8 | g.41933633G>A | CA460783574 | KAT6A | c.4587C>T (p.Thr1529=) c.4593C>T (p.Thr1531=) c.3268C>T c.4719C>T (p.Thr1573=) c.4698C>T (p.Thr1566=) c.4605C>T (p.Thr1535=) c.3159C>T (p.Thr1053=) | |
| 8 | g.41933633G>C | CA460783575 | KAT6A | c.4587C>G (p.Thr1529=) c.4593C>G (p.Thr1531=) c.3268C>G c.4719C>G (p.Thr1573=) c.4698C>G (p.Thr1566=) c.4605C>G (p.Thr1535=) c.3159C>G (p.Thr1053=) | |
| 8 | g.41933633G>T | CA460783576 | KAT6A | c.4587C>A (p.Thr1529=) c.4593C>A (p.Thr1531=) c.3268C>A c.4719C>A (p.Thr1573=) c.4698C>A (p.Thr1566=) c.4605C>A (p.Thr1535=) c.3159C>A (p.Thr1053=) | |
| 8 | g.41933634G>A | CA371065445 | KAT6A | c.4586C>T (p.Thr1529Ile) c.4592C>T (p.Thr1531Ile) c.3267C>T c.4718C>T (p.Thr1573Ile) c.4697C>T (p.Thr1566Ile) c.4604C>T (p.Thr1535Ile) c.3158C>T (p.Thr1053Ile) | dbSNP |
| 8 | g.41933634G>C | CA371065448 | KAT6A | c.4586C>G (p.Thr1529Ser) c.4592C>G (p.Thr1531Ser) c.3267C>G c.4718C>G (p.Thr1573Ser) c.4697C>G (p.Thr1566Ser) c.4604C>G (p.Thr1535Ser) c.3158C>G (p.Thr1053Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933634G= | CA1779195995 | KAT6A | c.4586C= (p.Thr1529=) c.4592C= (p.Thr1531=) c.3267C= c.4718C= (p.Thr1573=) c.4697C= (p.Thr1566=) c.4604C= (p.Thr1535=) c.3158C= (p.Thr1053=) | |
| 8 | g.41933634G>T | CA371065447 | KAT6A | c.4586C>A (p.Thr1529Asn) c.4592C>A (p.Thr1531Asn) c.3267C>A c.4718C>A (p.Thr1573Asn) c.4697C>A (p.Thr1566Asn) c.4604C>A (p.Thr1535Asn) c.3158C>A (p.Thr1053Asn) | |
| 8 | g.41933635T>A | CA371065450 | KAT6A | c.4585A>T (p.Thr1529Ser) c.4591A>T (p.Thr1531Ser) c.3266A>T c.4717A>T (p.Thr1573Ser) c.4696A>T (p.Thr1566Ser) c.4603A>T (p.Thr1535Ser) c.3157A>T (p.Thr1053Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933635T>C | CA371065452 | KAT6A | c.4585A>G (p.Thr1529Ala) c.4591A>G (p.Thr1531Ala) c.3266A>G c.4717A>G (p.Thr1573Ala) c.4696A>G (p.Thr1566Ala) c.4603A>G (p.Thr1535Ala) c.3157A>G (p.Thr1053Ala) | |
| 8 | g.41933635T>G | CA371065454 | KAT6A | c.4585A>C (p.Thr1529Pro) c.4591A>C (p.Thr1531Pro) c.3266A>C c.4717A>C (p.Thr1573Pro) c.4696A>C (p.Thr1566Pro) c.4603A>C (p.Thr1535Pro) c.3157A>C (p.Thr1053Pro) | |
| 8 | g.41933635T= | CA1779195996 | KAT6A | c.4585A= (p.Thr1529=) c.4591A= (p.Thr1531=) c.3266A= c.4717A= (p.Thr1573=) c.4696A= (p.Thr1566=) c.4603A= (p.Thr1535=) c.3157A= (p.Thr1053=) | |
| 8 | g.41933636C>A | CA371065457 | KAT6A | c.4584G>T (p.Glu1528Asp) c.4590G>T (p.Glu1530Asp) c.3265G>T c.4716G>T (p.Glu1572Asp) c.4695G>T (p.Glu1565Asp) c.4602G>T (p.Glu1534Asp) c.3156G>T (p.Glu1052Asp) | |
| 8 | g.41933636C= | CA1779195997 | KAT6A | c.4584G= (p.Glu1528=) c.4590G= (p.Glu1530=) c.3265G= c.4716G= (p.Glu1572=) c.4695G= (p.Glu1565=) c.4602G= (p.Glu1534=) c.3156G= (p.Glu1052=) | |
| 8 | g.41933636C>G | CA175939247 | KAT6A | c.4584G>C (p.Glu1528Asp) c.4590G>C (p.Glu1530Asp) c.3265G>C c.4716G>C (p.Glu1572Asp) c.4695G>C (p.Glu1565Asp) c.4602G>C (p.Glu1534Asp) c.3156G>C (p.Glu1052Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933636C>T | CA460783580 | KAT6A | c.4584G>A (p.Glu1528=) c.4590G>A (p.Glu1530=) c.3265G>A c.4716G>A (p.Glu1572=) c.4695G>A (p.Glu1565=) c.4602G>A (p.Glu1534=) c.3156G>A (p.Glu1052=) | |
| 8 | g.41933637T>A | CA371065461 | KAT6A | c.4583A>T (p.Glu1528Val) c.4589A>T (p.Glu1530Val) c.3264A>T c.4715A>T (p.Glu1572Val) c.4694A>T (p.Glu1565Val) c.4601A>T (p.Glu1534Val) c.3155A>T (p.Glu1052Val) | |
| 8 | g.41933637T>C | CA371065463 | KAT6A | c.4583A>G (p.Glu1528Gly) c.4589A>G (p.Glu1530Gly) c.3264A>G c.4715A>G (p.Glu1572Gly) c.4694A>G (p.Glu1565Gly) c.4601A>G (p.Glu1534Gly) c.3155A>G (p.Glu1052Gly) | |
| 8 | g.41933637T>G | CA371065465 | KAT6A | c.4583A>C (p.Glu1528Ala) c.4589A>C (p.Glu1530Ala) c.3264A>C c.4715A>C (p.Glu1572Ala) c.4694A>C (p.Glu1565Ala) c.4601A>C (p.Glu1534Ala) c.3155A>C (p.Glu1052Ala) | |
| 8 | g.41933638C>A | CA371065468 | KAT6A | c.4582G>T (p.Glu1528Ter) c.4588G>T (p.Glu1530Ter) c.3263G>T c.4714G>T (p.Glu1572Ter) c.4693G>T (p.Glu1565Ter) c.4600G>T (p.Glu1534Ter) c.3154G>T (p.Glu1052Ter) | |
| 8 | g.41933638C>G | CA371065470 | KAT6A | c.4582G>C (p.Glu1528Gln) c.4588G>C (p.Glu1530Gln) c.3263G>C c.4714G>C (p.Glu1572Gln) c.4693G>C (p.Glu1565Gln) c.4600G>C (p.Glu1534Gln) c.3154G>C (p.Glu1052Gln) | gnomAD v4 |
| 8 | g.41933638C>T | CA371065473 | KAT6A | c.4582G>A (p.Glu1528Lys) c.4588G>A (p.Glu1530Lys) c.3263G>A c.4714G>A (p.Glu1572Lys) c.4693G>A (p.Glu1565Lys) c.4600G>A (p.Glu1534Lys) c.3154G>A (p.Glu1052Lys) | |
| 8 | g.41933639C>A | CA371065479 | KAT6A | c.4581G>T (p.Met1527Ile) c.4587G>T (p.Met1529Ile) c.3262G>T c.4713G>T (p.Met1571Ile) c.4692G>T (p.Met1564Ile) c.4599G>T (p.Met1533Ile) c.3153G>T (p.Met1051Ile) | |
| 8 | g.41933639C>G | CA371065477 | KAT6A | c.4581G>C (p.Met1527Ile) c.4587G>C (p.Met1529Ile) c.3262G>C c.4713G>C (p.Met1571Ile) c.4692G>C (p.Met1564Ile) c.4599G>C (p.Met1533Ile) c.3153G>C (p.Met1051Ile) | |
| 8 | g.41933639C>T | CA371065475 | KAT6A | c.4581G>A (p.Met1527Ile) c.4587G>A (p.Met1529Ile) c.3262G>A c.4713G>A (p.Met1571Ile) c.4692G>A (p.Met1564Ile) c.4599G>A (p.Met1533Ile) c.3153G>A (p.Met1051Ile) | |
| 8 | g.41933640A>C | CA371065482 | KAT6A | c.4580T>G (p.Met1527Arg) c.4586T>G (p.Met1529Arg) c.3261T>G c.4712T>G (p.Met1571Arg) c.4691T>G (p.Met1564Arg) c.4598T>G (p.Met1533Arg) c.3152T>G (p.Met1051Arg) | |
| 8 | g.41933640A>G | CA371065483 | KAT6A | c.4580T>C (p.Met1527Thr) c.4586T>C (p.Met1529Thr) c.3261T>C c.4712T>C (p.Met1571Thr) c.4691T>C (p.Met1564Thr) c.4598T>C (p.Met1533Thr) c.3152T>C (p.Met1051Thr) | |
| 8 | g.41933640A>T | CA371065485 | KAT6A | c.4580T>A (p.Met1527Lys) c.4586T>A (p.Met1529Lys) c.3261T>A c.4712T>A (p.Met1571Lys) c.4691T>A (p.Met1564Lys) c.4598T>A (p.Met1533Lys) c.3152T>A (p.Met1051Lys) | |
| 8 | g.41933641T>A | CA371065488 | KAT6A | c.4579A>T (p.Met1527Leu) c.4585A>T (p.Met1529Leu) c.3260A>T c.4711A>T (p.Met1571Leu) c.4690A>T (p.Met1564Leu) c.4597A>T (p.Met1533Leu) c.3151A>T (p.Met1051Leu) | |
| 8 | g.41933641T>C | CA4729450 | KAT6A | c.4579A>G (p.Met1527Val) c.4585A>G (p.Met1529Val) c.3260A>G c.4711A>G (p.Met1571Val) c.4690A>G (p.Met1564Val) c.4597A>G (p.Met1533Val) c.3151A>G (p.Met1051Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.41933641T>G | CA371065491 | KAT6A | c.4579A>C (p.Met1527Leu) c.4585A>C (p.Met1529Leu) c.3260A>C c.4711A>C (p.Met1571Leu) c.4690A>C (p.Met1564Leu) c.4597A>C (p.Met1533Leu) c.3151A>C (p.Met1051Leu) | |
| 8 | g.41933641T= | CA1779195998 | KAT6A | c.4579A= (p.Met1527=) c.4585A= (p.Met1529=) c.3260A= c.4711A= (p.Met1571=) c.4690A= (p.Met1564=) c.4597A= (p.Met1533=) c.3151A= (p.Met1051=) | |
| 8 | g.41933642G>A | CA460783583 | KAT6A | c.4578C>T (p.Asn1526=) c.4584C>T (p.Asn1528=) c.3259C>T c.4710C>T (p.Asn1570=) c.4689C>T (p.Asn1563=) c.4596C>T (p.Asn1532=) c.3150C>T (p.Asn1050=) | |
| 8 | g.41933642G>C | CA371065493 | KAT6A | c.4578C>G (p.Asn1526Lys) c.4584C>G (p.Asn1528Lys) c.3259C>G c.4710C>G (p.Asn1570Lys) c.4689C>G (p.Asn1563Lys) c.4596C>G (p.Asn1532Lys) c.3150C>G (p.Asn1050Lys) | |
| 8 | g.41933642G>T | CA371065495 | KAT6A | c.4578C>A (p.Asn1526Lys) c.4584C>A (p.Asn1528Lys) c.3259C>A c.4710C>A (p.Asn1570Lys) c.4689C>A (p.Asn1563Lys) c.4596C>A (p.Asn1532Lys) c.3150C>A (p.Asn1050Lys) | |
| 8 | g.41933643T>A | CA371065497 | KAT6A | c.4577A>T (p.Asn1526Ile) c.4583A>T (p.Asn1528Ile) c.3258A>T c.4709A>T (p.Asn1570Ile) c.4688A>T (p.Asn1563Ile) c.4595A>T (p.Asn1532Ile) c.3149A>T (p.Asn1050Ile) | |
| 8 | g.41933643T>C | CA371065499 | KAT6A | c.4577A>G (p.Asn1526Ser) c.4583A>G (p.Asn1528Ser) c.3258A>G c.4709A>G (p.Asn1570Ser) c.4688A>G (p.Asn1563Ser) c.4595A>G (p.Asn1532Ser) c.3149A>G (p.Asn1050Ser) | |
| 8 | g.41933643T>G | CA371065501 | KAT6A | c.4577A>C (p.Asn1526Thr) c.4583A>C (p.Asn1528Thr) c.3258A>C c.4709A>C (p.Asn1570Thr) c.4688A>C (p.Asn1563Thr) c.4595A>C (p.Asn1532Thr) c.3149A>C (p.Asn1050Thr) | |
| 8 | g.41933644T>A | CA371065508 | KAT6A | c.4576A>T (p.Asn1526Tyr) c.4582A>T (p.Asn1528Tyr) c.3257A>T c.4708A>T (p.Asn1570Tyr) c.4687A>T (p.Asn1563Tyr) c.4594A>T (p.Asn1532Tyr) c.3148A>T (p.Asn1050Tyr) | |
| 8 | g.41933644T>C | CA371065506 | KAT6A | c.4576A>G (p.Asn1526Asp) c.4582A>G (p.Asn1528Asp) c.3257A>G c.4708A>G (p.Asn1570Asp) c.4687A>G (p.Asn1563Asp) c.4594A>G (p.Asn1532Asp) c.3148A>G (p.Asn1050Asp) | |
| 8 | g.41933644T>G | CA371065504 | KAT6A | c.4576A>C (p.Asn1526His) c.4582A>C (p.Asn1528His) c.3257A>C c.4708A>C (p.Asn1570His) c.4687A>C (p.Asn1563His) c.4594A>C (p.Asn1532His) c.3148A>C (p.Asn1050His) | COSMIC |
| 8 | g.41933645C>A | CA371065510 | KAT6A | c.4575G>T (p.Gln1525His) c.4581G>T (p.Gln1527His) c.3256G>T c.4707G>T (p.Gln1569His) c.4686G>T (p.Gln1562His) c.4593G>T (p.Gln1531His) c.3147G>T (p.Gln1049His) | |
| 8 | g.41933645C= | CA1779195999 | KAT6A | c.4575G= (p.Gln1525=) c.4581G= (p.Gln1527=) c.3256G= c.4707G= (p.Gln1569=) c.4686G= (p.Gln1562=) c.4593G= (p.Gln1531=) c.3147G= (p.Gln1049=) | |
| 8 | g.41933645C>G | CA371065512 | KAT6A | c.4575G>C (p.Gln1525His) c.4581G>C (p.Gln1527His) c.3256G>C c.4707G>C (p.Gln1569His) c.4686G>C (p.Gln1562His) c.4593G>C (p.Gln1531His) c.3147G>C (p.Gln1049His) | |
| 8 | g.41933645C>T | CA460783586 | KAT6A | c.4575G>A (p.Gln1525=) c.4581G>A (p.Gln1527=) c.3256G>A c.4707G>A (p.Gln1569=) c.4686G>A (p.Gln1562=) c.4593G>A (p.Gln1531=) c.3147G>A (p.Gln1049=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933646T>A | CA371065513 | KAT6A | c.4574A>T (p.Gln1525Leu) c.4580A>T (p.Gln1527Leu) c.3255A>T c.4706A>T (p.Gln1569Leu) c.4685A>T (p.Gln1562Leu) c.4592A>T (p.Gln1531Leu) c.3146A>T (p.Gln1049Leu) | |
| 8 | g.41933646T>C | CA4729451 | KAT6A | c.4574A>G (p.Gln1525Arg) c.4580A>G (p.Gln1527Arg) c.3255A>G c.4706A>G (p.Gln1569Arg) c.4685A>G (p.Gln1562Arg) c.4592A>G (p.Gln1531Arg) c.3146A>G (p.Gln1049Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933646T>G | CA371065515 | KAT6A | c.4574A>C (p.Gln1525Pro) c.4580A>C (p.Gln1527Pro) c.3255A>C c.4706A>C (p.Gln1569Pro) c.4685A>C (p.Gln1562Pro) c.4592A>C (p.Gln1531Pro) c.3146A>C (p.Gln1049Pro) | |
| 8 | g.41933646T= | CA1779196000 | KAT6A | c.4574A= (p.Gln1525=) c.4580A= (p.Gln1527=) c.3255A= c.4706A= (p.Gln1569=) c.4685A= (p.Gln1562=) c.4592A= (p.Gln1531=) c.3146A= (p.Gln1049=) | |
| 8 | g.41933647G>A | CA371065518 | KAT6A | c.4573C>T (p.Gln1525Ter) c.4579C>T (p.Gln1527Ter) c.3254C>T c.4705C>T (p.Gln1569Ter) c.4684C>T (p.Gln1562Ter) c.4591C>T (p.Gln1531Ter) c.3145C>T (p.Gln1049Ter) | |
| 8 | g.41933647G>C | CA371065520 | KAT6A | c.4573C>G (p.Gln1525Glu) c.4579C>G (p.Gln1527Glu) c.3254C>G c.4705C>G (p.Gln1569Glu) c.4684C>G (p.Gln1562Glu) c.4591C>G (p.Gln1531Glu) c.3145C>G (p.Gln1049Glu) | |
| 8 | g.41933647G>T | CA371065521 | KAT6A | c.4573C>A (p.Gln1525Lys) c.4579C>A (p.Gln1527Lys) c.3254C>A c.4705C>A (p.Gln1569Lys) c.4684C>A (p.Gln1562Lys) c.4591C>A (p.Gln1531Lys) c.3145C>A (p.Gln1049Lys) | |
| 8 | g.41933648C>A | CA371065524 | KAT6A | c.4572G>T (p.Met1524Ile) c.4578G>T (p.Met1526Ile) c.3253G>T c.4704G>T (p.Met1568Ile) c.4683G>T (p.Met1561Ile) c.4590G>T (p.Met1530Ile) c.3144G>T (p.Met1048Ile) | |
| 8 | g.41933648C>G | CA371065526 | KAT6A | c.4572G>C (p.Met1524Ile) c.4578G>C (p.Met1526Ile) c.3253G>C c.4704G>C (p.Met1568Ile) c.4683G>C (p.Met1561Ile) c.4590G>C (p.Met1530Ile) c.3144G>C (p.Met1048Ile) | |
| 8 | g.41933648C>T | CA371065528 | KAT6A | c.4572G>A (p.Met1524Ile) c.4578G>A (p.Met1526Ile) c.3253G>A c.4704G>A (p.Met1568Ile) c.4683G>A (p.Met1561Ile) c.4590G>A (p.Met1530Ile) c.3144G>A (p.Met1048Ile) | |
| 8 | g.41933649A>C | CA371065530 | KAT6A | c.4571T>G (p.Met1524Arg) c.4577T>G (p.Met1526Arg) c.3252T>G c.4703T>G (p.Met1568Arg) c.4682T>G (p.Met1561Arg) c.4589T>G (p.Met1530Arg) c.3143T>G (p.Met1048Arg) | |
| 8 | g.41933649A>G | CA371065532 | KAT6A | c.4571T>C (p.Met1524Thr) c.4577T>C (p.Met1526Thr) c.3252T>C c.4703T>C (p.Met1568Thr) c.4682T>C (p.Met1561Thr) c.4589T>C (p.Met1530Thr) c.3143T>C (p.Met1048Thr) | ClinVar gnomAD v4 |
| 8 | g.41933649A>T | CA371065534 | KAT6A | c.4571T>A (p.Met1524Lys) c.4577T>A (p.Met1526Lys) c.3252T>A c.4703T>A (p.Met1568Lys) c.4682T>A (p.Met1561Lys) c.4589T>A (p.Met1530Lys) c.3143T>A (p.Met1048Lys) | |
| 8 | g.41933650T>A | CA371065540 | KAT6A | c.4570A>T (p.Met1524Leu) c.4576A>T (p.Met1526Leu) c.3251A>T c.4702A>T (p.Met1568Leu) c.4681A>T (p.Met1561Leu) c.4588A>T (p.Met1530Leu) c.3142A>T (p.Met1048Leu) | |
| 8 | g.41933650T>C | CA371065538 | KAT6A | c.4570A>G (p.Met1524Val) c.4576A>G (p.Met1526Val) c.3251A>G c.4702A>G (p.Met1568Val) c.4681A>G (p.Met1561Val) c.4588A>G (p.Met1530Val) c.3142A>G (p.Met1048Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933650T>G | CA371065536 | KAT6A | c.4570A>C (p.Met1524Leu) c.4576A>C (p.Met1526Leu) c.3251A>C c.4702A>C (p.Met1568Leu) c.4681A>C (p.Met1561Leu) c.4588A>C (p.Met1530Leu) c.3142A>C (p.Met1048Leu) | |
| 8 | g.41933650T= | CA1779196001 | KAT6A | c.4570A= (p.Met1524=) c.4576A= (p.Met1526=) c.3251A= c.4702A= (p.Met1568=) c.4681A= (p.Met1561=) c.4588A= (p.Met1530=) c.3142A= (p.Met1048=) | |
| 8 | g.41933651A>C | CA460783594 | KAT6A | c.4569T>G (p.Ser1523=) c.4575T>G (p.Ser1525=) c.3250T>G c.4701T>G (p.Ser1567=) c.4680T>G (p.Ser1560=) c.4587T>G (p.Ser1529=) c.3141T>G (p.Ser1047=) | |
| 8 | g.41933651A>G | CA460783595 | KAT6A | c.4569T>C (p.Ser1523=) c.4575T>C (p.Ser1525=) c.3250T>C c.4701T>C (p.Ser1567=) c.4680T>C (p.Ser1560=) c.4587T>C (p.Ser1529=) c.3141T>C (p.Ser1047=) | |
| 8 | g.41933651A>T | CA460783596 | KAT6A | c.4569T>A (p.Ser1523=) c.4575T>A (p.Ser1525=) c.3250T>A c.4701T>A (p.Ser1567=) c.4680T>A (p.Ser1560=) c.4587T>A (p.Ser1529=) c.3141T>A (p.Ser1047=) | |
| 8 | g.41933651dup | CA2779855855 | KAT6A | c.4569dup (p.Met1524TyrfsTer29) c.4575dup (p.Met1526TyrfsTer29) c.3250dup c.4701dup (p.Met1568TyrfsTer29) c.4680dup (p.Met1561TyrfsTer29) c.4587dup (p.Met1530TyrfsTer29) c.3141dup (p.Met1048TyrfsTer29) | |
| 8 | g.41933652G>A | CA371065543 | KAT6A | c.4568C>T (p.Ser1523Phe) c.4574C>T (p.Ser1525Phe) c.3249C>T c.4700C>T (p.Ser1567Phe) c.4679C>T (p.Ser1560Phe) c.4586C>T (p.Ser1529Phe) c.3140C>T (p.Ser1047Phe) | |
| 8 | g.41933652G>C | CA371065545 | KAT6A | c.4568C>G (p.Ser1523Cys) c.4574C>G (p.Ser1525Cys) c.3249C>G c.4700C>G (p.Ser1567Cys) c.4679C>G (p.Ser1560Cys) c.4586C>G (p.Ser1529Cys) c.3140C>G (p.Ser1047Cys) | |
| 8 | g.41933652G>T | CA371065546 | KAT6A | c.4568C>A (p.Ser1523Tyr) c.4574C>A (p.Ser1525Tyr) c.3249C>A c.4700C>A (p.Ser1567Tyr) c.4679C>A (p.Ser1560Tyr) c.4586C>A (p.Ser1529Tyr) c.3140C>A (p.Ser1047Tyr) | |
| 8 | g.41933653A= | CA1779196002 | KAT6A | c.4567T= (p.Ser1523=) c.4573T= (p.Ser1525=) c.3248T= c.4699T= (p.Ser1567=) c.4678T= (p.Ser1560=) c.4585T= (p.Ser1529=) c.3139T= (p.Ser1047=) | |
| 8 | g.41933653A>C | CA4729452 | KAT6A | c.4567T>G (p.Ser1523Ala) c.4573T>G (p.Ser1525Ala) c.3248T>G c.4699T>G (p.Ser1567Ala) c.4678T>G (p.Ser1560Ala) c.4585T>G (p.Ser1529Ala) c.3139T>G (p.Ser1047Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933653A>G | CA371065547 | KAT6A | c.4567T>C (p.Ser1523Pro) c.4573T>C (p.Ser1525Pro) c.3248T>C c.4699T>C (p.Ser1567Pro) c.4678T>C (p.Ser1560Pro) c.4585T>C (p.Ser1529Pro) c.3139T>C (p.Ser1047Pro) | dbSNP |
| 8 | g.41933653A>T | CA371065548 | KAT6A | c.4567T>A (p.Ser1523Thr) c.4573T>A (p.Ser1525Thr) c.3248T>A c.4699T>A (p.Ser1567Thr) c.4678T>A (p.Ser1560Thr) c.4585T>A (p.Ser1529Thr) c.3139T>A (p.Ser1047Thr) | |
| 8 | g.41933654G>A | CA460783601 | KAT6A | c.4566C>T (p.Pro1522=) c.4572C>T (p.Pro1524=) c.3247C>T c.4698C>T (p.Pro1566=) c.4677C>T (p.Pro1559=) c.4584C>T (p.Pro1528=) c.3138C>T (p.Pro1046=) | dbSNP gnomAD v4 |
| 8 | g.41933654G>C | CA460783602 | KAT6A | c.4566C>G (p.Pro1522=) c.4572C>G (p.Pro1524=) c.3247C>G c.4698C>G (p.Pro1566=) c.4677C>G (p.Pro1559=) c.4584C>G (p.Pro1528=) c.3138C>G (p.Pro1046=) | |
| 8 | g.41933654G>T | CA460783603 | KAT6A | c.4566C>A (p.Pro1522=) c.4572C>A (p.Pro1524=) c.3247C>A c.4698C>A (p.Pro1566=) c.4677C>A (p.Pro1559=) c.4584C>A (p.Pro1528=) c.3138C>A (p.Pro1046=) | |
| 8 | g.41933655G>A | CA371065549 | KAT6A | c.4565C>T (p.Pro1522Leu) c.4571C>T (p.Pro1524Leu) c.3246C>T c.4697C>T (p.Pro1566Leu) c.4676C>T (p.Pro1559Leu) c.4583C>T (p.Pro1528Leu) c.3137C>T (p.Pro1046Leu) | |
| 8 | g.41933655G>C | CA371065550 | KAT6A | c.4565C>G (p.Pro1522Arg) c.4571C>G (p.Pro1524Arg) c.3246C>G c.4697C>G (p.Pro1566Arg) c.4676C>G (p.Pro1559Arg) c.4583C>G (p.Pro1528Arg) c.3137C>G (p.Pro1046Arg) | |
| 8 | g.41933655G>T | CA371065551 | KAT6A | c.4565C>A (p.Pro1522His) c.4571C>A (p.Pro1524His) c.3246C>A c.4697C>A (p.Pro1566His) c.4676C>A (p.Pro1559His) c.4583C>A (p.Pro1528His) c.3137C>A (p.Pro1046His) | |
| 8 | g.41933656G>A | CA371065552 | KAT6A | c.4564C>T (p.Pro1522Ser) c.4570C>T (p.Pro1524Ser) c.3245C>T c.4696C>T (p.Pro1566Ser) c.4675C>T (p.Pro1559Ser) c.4582C>T (p.Pro1528Ser) c.3136C>T (p.Pro1046Ser) | dbSNP |
| 8 | g.41933656G>C | CA371065553 | KAT6A | c.4564C>G (p.Pro1522Ala) c.4570C>G (p.Pro1524Ala) c.3245C>G c.4696C>G (p.Pro1566Ala) c.4675C>G (p.Pro1559Ala) c.4582C>G (p.Pro1528Ala) c.3136C>G (p.Pro1046Ala) | |
| 8 | g.41933656G= | CA1779196003 | KAT6A | c.4564C= (p.Pro1522=) c.4570C= (p.Pro1524=) c.3245C= c.4696C= (p.Pro1566=) c.4675C= (p.Pro1559=) c.4582C= (p.Pro1528=) c.3136C= (p.Pro1046=) | |
| 8 | g.41933656G>T | CA371065554 | KAT6A | c.4564C>A (p.Pro1522Thr) c.4570C>A (p.Pro1524Thr) c.3245C>A c.4696C>A (p.Pro1566Thr) c.4675C>A (p.Pro1559Thr) c.4582C>A (p.Pro1528Thr) c.3136C>A (p.Pro1046Thr) | |
| 8 | g.41933657T>A | CA460783607 | KAT6A | c.4563A>T (p.Ala1521=) c.4569A>T (p.Ala1523=) c.3244A>T c.4695A>T (p.Ala1565=) c.4674A>T (p.Ala1558=) c.4581A>T (p.Ala1527=) c.3135A>T (p.Ala1045=) | |
| 8 | g.41933657T>C | CA460783609 | KAT6A | c.4563A>G (p.Ala1521=) c.4569A>G (p.Ala1523=) c.3244A>G c.4695A>G (p.Ala1565=) c.4674A>G (p.Ala1558=) c.4581A>G (p.Ala1527=) c.3135A>G (p.Ala1045=) | dbSNP |
| 8 | g.41933657T>G | CA460783610 | KAT6A | c.4563A>C (p.Ala1521=) c.4569A>C (p.Ala1523=) c.3244A>C c.4695A>C (p.Ala1565=) c.4674A>C (p.Ala1558=) c.4581A>C (p.Ala1527=) c.3135A>C (p.Ala1045=) | dbSNP |
| 8 | g.41933657T= | CA1779196004 | KAT6A | c.4563A= (p.Ala1521=) c.4569A= (p.Ala1523=) c.3244A= c.4695A= (p.Ala1565=) c.4674A= (p.Ala1558=) c.4581A= (p.Ala1527=) c.3135A= (p.Ala1045=) | |
| 8 | g.41933658G>A | CA371065557 | KAT6A | c.4562C>T (p.Ala1521Val) c.4568C>T (p.Ala1523Val) c.3243C>T c.4694C>T (p.Ala1565Val) c.4673C>T (p.Ala1558Val) c.4580C>T (p.Ala1527Val) c.3134C>T (p.Ala1045Val) | |
| 8 | g.41933658G>C | CA371065556 | KAT6A | c.4562C>G (p.Ala1521Gly) c.4568C>G (p.Ala1523Gly) c.3243C>G c.4694C>G (p.Ala1565Gly) c.4673C>G (p.Ala1558Gly) c.4580C>G (p.Ala1527Gly) c.3134C>G (p.Ala1045Gly) | gnomAD v4 |
| 8 | g.41933658G>T | CA371065555 | KAT6A | c.4562C>A (p.Ala1521Glu) c.4568C>A (p.Ala1523Glu) c.3243C>A c.4694C>A (p.Ala1565Glu) c.4673C>A (p.Ala1558Glu) c.4580C>A (p.Ala1527Glu) c.3134C>A (p.Ala1045Glu) | |
| 8 | g.41933659C>A | CA371065558 | KAT6A | c.4561G>T (p.Ala1521Ser) c.4567G>T (p.Ala1523Ser) c.3242G>T c.4693G>T (p.Ala1565Ser) c.4672G>T (p.Ala1558Ser) c.4579G>T (p.Ala1527Ser) c.3133G>T (p.Ala1045Ser) | |
| 8 | g.41933659C= | CA1779196005 | KAT6A | c.4561G= (p.Ala1521=) c.4567G= (p.Ala1523=) c.3242G= c.4693G= (p.Ala1565=) c.4672G= (p.Ala1558=) c.4579G= (p.Ala1527=) c.3133G= (p.Ala1045=) | |
| 8 | g.41933659C>G | CA371065559 | KAT6A | c.4561G>C (p.Ala1521Pro) c.4567G>C (p.Ala1523Pro) c.3242G>C c.4693G>C (p.Ala1565Pro) c.4672G>C (p.Ala1558Pro) c.4579G>C (p.Ala1527Pro) c.3133G>C (p.Ala1045Pro) | |
| 8 | g.41933659C>T | CA4729453 | KAT6A | c.4561G>A (p.Ala1521Thr) c.4567G>A (p.Ala1523Thr) c.3242G>A c.4693G>A (p.Ala1565Thr) c.4672G>A (p.Ala1558Thr) c.4579G>A (p.Ala1527Thr) c.3133G>A (p.Ala1045Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933660G>A | CA4729454 | KAT6A | c.4560C>T (p.Ser1520=) c.4566C>T (p.Ser1522=) c.3241C>T c.4692C>T (p.Ser1564=) c.4671C>T (p.Ser1557=) c.4578C>T (p.Ser1526=) c.3132C>T (p.Ser1044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933660G>C | CA460783613 | KAT6A | c.4560C>G (p.Ser1520=) c.4566C>G (p.Ser1522=) c.3241C>G c.4692C>G (p.Ser1564=) c.4671C>G (p.Ser1557=) c.4578C>G (p.Ser1526=) c.3132C>G (p.Ser1044=) | |
| 8 | g.41933660G= | CA1779196006 | KAT6A | c.4560C= (p.Ser1520=) c.4566C= (p.Ser1522=) c.3241C= c.4692C= (p.Ser1564=) c.4671C= (p.Ser1557=) c.4578C= (p.Ser1526=) c.3132C= (p.Ser1044=) | |
| 8 | g.41933660G>T | CA460783614 | KAT6A | c.4560C>A (p.Ser1520=) c.4566C>A (p.Ser1522=) c.3241C>A c.4692C>A (p.Ser1564=) c.4671C>A (p.Ser1557=) c.4578C>A (p.Ser1526=) c.3132C>A (p.Ser1044=) | |
| 8 | g.41933661G>A | CA371065560 | KAT6A | c.4559C>T (p.Ser1520Phe) c.4565C>T (p.Ser1522Phe) c.3240C>T c.4691C>T (p.Ser1564Phe) c.4670C>T (p.Ser1557Phe) c.4577C>T (p.Ser1526Phe) c.3131C>T (p.Ser1044Phe) | |
| 8 | g.41933661G>C | CA371065561 | KAT6A | c.4559C>G (p.Ser1520Cys) c.4565C>G (p.Ser1522Cys) c.3240C>G c.4691C>G (p.Ser1564Cys) c.4670C>G (p.Ser1557Cys) c.4577C>G (p.Ser1526Cys) c.3131C>G (p.Ser1044Cys) | |
| 8 | g.41933661G>T | CA371065562 | KAT6A | c.4559C>A (p.Ser1520Tyr) c.4565C>A (p.Ser1522Tyr) c.3240C>A c.4691C>A (p.Ser1564Tyr) c.4670C>A (p.Ser1557Tyr) c.4577C>A (p.Ser1526Tyr) c.3131C>A (p.Ser1044Tyr) | |
| 8 | g.41933662A>C | CA371065563 | KAT6A | c.4558T>G (p.Ser1520Ala) c.4564T>G (p.Ser1522Ala) c.3239T>G c.4690T>G (p.Ser1564Ala) c.4669T>G (p.Ser1557Ala) c.4576T>G (p.Ser1526Ala) c.3130T>G (p.Ser1044Ala) | |
| 8 | g.41933662A>G | CA371065564 | KAT6A | c.4558T>C (p.Ser1520Pro) c.4564T>C (p.Ser1522Pro) c.3239T>C c.4690T>C (p.Ser1564Pro) c.4669T>C (p.Ser1557Pro) c.4576T>C (p.Ser1526Pro) c.3130T>C (p.Ser1044Pro) | gnomAD v4 |
| 8 | g.41933662A>T | CA371065565 | KAT6A | c.4558T>A (p.Ser1520Thr) c.4564T>A (p.Ser1522Thr) c.3239T>A c.4690T>A (p.Ser1564Thr) c.4669T>A (p.Ser1557Thr) c.4576T>A (p.Ser1526Thr) c.3130T>A (p.Ser1044Thr) | |
| 8 | g.41933663C>A | CA460783618 | KAT6A | c.4557G>T (p.Leu1519=) c.4563G>T (p.Leu1521=) c.3238G>T c.4689G>T (p.Leu1563=) c.4668G>T (p.Leu1556=) c.4575G>T (p.Leu1525=) c.3129G>T (p.Leu1043=) | |
| 8 | g.41933663C= | CA1779196007 | KAT6A | c.4557G= (p.Leu1519=) c.4563G= (p.Leu1521=) c.3238G= c.4689G= (p.Leu1563=) c.4668G= (p.Leu1556=) c.4575G= (p.Leu1525=) c.3129G= (p.Leu1043=) | |
| 8 | g.41933663C>G | CA4729455 | KAT6A | c.4557G>C (p.Leu1519=) c.4563G>C (p.Leu1521=) c.3238G>C c.4689G>C (p.Leu1563=) c.4668G>C (p.Leu1556=) c.4575G>C (p.Leu1525=) c.3129G>C (p.Leu1043=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933663C>T | CA460783619 | KAT6A | c.4557G>A (p.Leu1519=) c.4563G>A (p.Leu1521=) c.3238G>A c.4689G>A (p.Leu1563=) c.4668G>A (p.Leu1556=) c.4575G>A (p.Leu1525=) c.3129G>A (p.Leu1043=) | gnomAD v4 |
| 8 | g.41933664A>C | CA371065566 | KAT6A | c.4556T>G (p.Leu1519Arg) c.4562T>G (p.Leu1521Arg) c.3237T>G c.4688T>G (p.Leu1563Arg) c.4667T>G (p.Leu1556Arg) c.4574T>G (p.Leu1525Arg) c.3128T>G (p.Leu1043Arg) | |
| 8 | g.41933664A>G | CA371065567 | KAT6A | c.4556T>C (p.Leu1519Pro) c.4562T>C (p.Leu1521Pro) c.3237T>C c.4688T>C (p.Leu1563Pro) c.4667T>C (p.Leu1556Pro) c.4574T>C (p.Leu1525Pro) c.3128T>C (p.Leu1043Pro) | |
| 8 | g.41933664A>T | CA371065568 | KAT6A | c.4556T>A (p.Leu1519Gln) c.4562T>A (p.Leu1521Gln) c.3237T>A c.4688T>A (p.Leu1563Gln) c.4667T>A (p.Leu1556Gln) c.4574T>A (p.Leu1525Gln) c.3128T>A (p.Leu1043Gln) | |
| 8 | g.41933665G>A | CA460783621 | KAT6A | c.4555C>T (p.Leu1519=) c.4561C>T (p.Leu1521=) c.3236C>T c.4687C>T (p.Leu1563=) c.4666C>T (p.Leu1556=) c.4573C>T (p.Leu1525=) c.3127C>T (p.Leu1043=) | gnomAD v4 |
| 8 | g.41933665G>C | CA371065569 | KAT6A | c.4555C>G (p.Leu1519Val) c.4561C>G (p.Leu1521Val) c.3236C>G c.4687C>G (p.Leu1563Val) c.4666C>G (p.Leu1556Val) c.4573C>G (p.Leu1525Val) c.3127C>G (p.Leu1043Val) | |
| 8 | g.41933665G>T | CA371065570 | KAT6A | c.4555C>A (p.Leu1519Met) c.4561C>A (p.Leu1521Met) c.3236C>A c.4687C>A (p.Leu1563Met) c.4666C>A (p.Leu1556Met) c.4573C>A (p.Leu1525Met) c.3127C>A (p.Leu1043Met) | |
| 8 | g.41933666G>A | CA460783624 | KAT6A | c.4554C>T (p.Ser1518=) c.4560C>T (p.Ser1520=) c.3235C>T c.4686C>T (p.Ser1562=) c.4665C>T (p.Ser1555=) c.4572C>T (p.Ser1524=) c.3126C>T (p.Ser1042=) | |
| 8 | g.41933666G>C | CA460783625 | KAT6A | c.4554C>G (p.Ser1518=) c.4560C>G (p.Ser1520=) c.3235C>G c.4686C>G (p.Ser1562=) c.4665C>G (p.Ser1555=) c.4572C>G (p.Ser1524=) c.3126C>G (p.Ser1042=) | dbSNP gnomAD v4 |
| 8 | g.41933666G= | CA1779196008 | KAT6A | c.4554C= (p.Ser1518=) c.4560C= (p.Ser1520=) c.3235C= c.4686C= (p.Ser1562=) c.4665C= (p.Ser1555=) c.4572C= (p.Ser1524=) c.3126C= (p.Ser1042=) | |
| 8 | g.41933666G>T | CA460783627 | KAT6A | c.4554C>A (p.Ser1518=) c.4560C>A (p.Ser1520=) c.3235C>A c.4686C>A (p.Ser1562=) c.4665C>A (p.Ser1555=) c.4572C>A (p.Ser1524=) c.3126C>A (p.Ser1042=) | gnomAD v4 |
| 8 | g.41933667G>A | CA371065571 | KAT6A | c.4553C>T (p.Ser1518Phe) c.4559C>T (p.Ser1520Phe) c.3234C>T c.4685C>T (p.Ser1562Phe) c.4664C>T (p.Ser1555Phe) c.4571C>T (p.Ser1524Phe) c.3125C>T (p.Ser1042Phe) | |
| 8 | g.41933667G>C | CA371065572 | KAT6A | c.4553C>G (p.Ser1518Cys) c.4559C>G (p.Ser1520Cys) c.3234C>G c.4685C>G (p.Ser1562Cys) c.4664C>G (p.Ser1555Cys) c.4571C>G (p.Ser1524Cys) c.3125C>G (p.Ser1042Cys) | |
| 8 | g.41933667G>T | CA371065573 | KAT6A | c.4553C>A (p.Ser1518Tyr) c.4559C>A (p.Ser1520Tyr) c.3234C>A c.4685C>A (p.Ser1562Tyr) c.4664C>A (p.Ser1555Tyr) c.4571C>A (p.Ser1524Tyr) c.3125C>A (p.Ser1042Tyr) | |
| 8 | g.41933668A= | CA1779196009 | KAT6A | c.4552T= (p.Ser1518=) c.4558T= (p.Ser1520=) c.3233T= c.4684T= (p.Ser1562=) c.4663T= (p.Ser1555=) c.4570T= (p.Ser1524=) c.3124T= (p.Ser1042=) | |
| 8 | g.41933668A>C | CA371065574 | KAT6A | c.4552T>G (p.Ser1518Ala) c.4558T>G (p.Ser1520Ala) c.3233T>G c.4684T>G (p.Ser1562Ala) c.4663T>G (p.Ser1555Ala) c.4570T>G (p.Ser1524Ala) c.3124T>G (p.Ser1042Ala) | |
| 8 | g.41933668A>G | CA371065575 | KAT6A | c.4552T>C (p.Ser1518Pro) c.4558T>C (p.Ser1520Pro) c.3233T>C c.4684T>C (p.Ser1562Pro) c.4663T>C (p.Ser1555Pro) c.4570T>C (p.Ser1524Pro) c.3124T>C (p.Ser1042Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933668A>T | CA371065576 | KAT6A | c.4552T>A (p.Ser1518Thr) c.4558T>A (p.Ser1520Thr) c.3233T>A c.4684T>A (p.Ser1562Thr) c.4663T>A (p.Ser1555Thr) c.4570T>A (p.Ser1524Thr) c.3124T>A (p.Ser1042Thr) | |
| 8 | g.41933669T>A | CA460783631 | KAT6A | c.4551A>T (p.Gly1517=) c.4557A>T (p.Gly1519=) c.3232A>T c.4683A>T (p.Gly1561=) c.4662A>T (p.Gly1554=) c.4569A>T (p.Gly1523=) c.3123A>T (p.Gly1041=) | |
| 8 | g.41933669T>C | CA460783634 | KAT6A | c.4551A>G (p.Gly1517=) c.4557A>G (p.Gly1519=) c.3232A>G c.4683A>G (p.Gly1561=) c.4662A>G (p.Gly1554=) c.4569A>G (p.Gly1523=) c.3123A>G (p.Gly1041=) | |
| 8 | g.41933669T>G | CA460783633 | KAT6A | c.4551A>C (p.Gly1517=) c.4557A>C (p.Gly1519=) c.3232A>C c.4683A>C (p.Gly1561=) c.4662A>C (p.Gly1554=) c.4569A>C (p.Gly1523=) c.3123A>C (p.Gly1041=) | |
| 8 | g.41933670C>A | CA371065577 | KAT6A | c.4550G>T (p.Gly1517Val) c.4556G>T (p.Gly1519Val) c.3231G>T c.4682G>T (p.Gly1561Val) c.4661G>T (p.Gly1554Val) c.4568G>T (p.Gly1523Val) c.3122G>T (p.Gly1041Val) | ClinVar |
| 8 | g.41933670C>G | CA371065578 | KAT6A | c.4550G>C (p.Gly1517Ala) c.4556G>C (p.Gly1519Ala) c.3231G>C c.4682G>C (p.Gly1561Ala) c.4661G>C (p.Gly1554Ala) c.4568G>C (p.Gly1523Ala) c.3122G>C (p.Gly1041Ala) | |
| 8 | g.41933670C>T | CA371065579 | KAT6A | c.4550G>A (p.Gly1517Glu) c.4556G>A (p.Gly1519Glu) c.3231G>A c.4682G>A (p.Gly1561Glu) c.4661G>A (p.Gly1554Glu) c.4568G>A (p.Gly1523Glu) c.3122G>A (p.Gly1041Glu) | gnomAD v4 |
| 8 | g.41933671C>A | CA371065580 | KAT6A | c.4549G>T (p.Gly1517Ter) c.4555G>T (p.Gly1519Ter) c.3230G>T c.4681G>T (p.Gly1561Ter) c.4660G>T (p.Gly1554Ter) c.4567G>T (p.Gly1523Ter) c.3121G>T (p.Gly1041Ter) | |
| 8 | g.41933671C= | CA1779196010 | KAT6A | c.4549G= (p.Gly1517=) c.4555G= (p.Gly1519=) c.3230G= c.4681G= (p.Gly1561=) c.4660G= (p.Gly1554=) c.4567G= (p.Gly1523=) c.3121G= (p.Gly1041=) | |
| 8 | g.41933671C>G | CA371065581 | KAT6A | c.4549G>C (p.Gly1517Arg) c.4555G>C (p.Gly1519Arg) c.3230G>C c.4681G>C (p.Gly1561Arg) c.4660G>C (p.Gly1554Arg) c.4567G>C (p.Gly1523Arg) c.3121G>C (p.Gly1041Arg) | |
| 8 | g.41933671C>T | CA371065582 | KAT6A | c.4549G>A (p.Gly1517Arg) c.4555G>A (p.Gly1519Arg) c.3230G>A c.4681G>A (p.Gly1561Arg) c.4660G>A (p.Gly1554Arg) c.4567G>A (p.Gly1523Arg) c.3121G>A (p.Gly1041Arg) | dbSNP |
| 8 | g.41933672T>A | CA371065584 | KAT6A | c.4548A>T (p.Gln1516His) c.4554A>T (p.Gln1518His) c.3229A>T c.4680A>T (p.Gln1560His) c.4659A>T (p.Gln1553His) c.4566A>T (p.Gln1522His) c.3120A>T (p.Gln1040His) | |
| 8 | g.41933672T>C | CA4729456 | KAT6A | c.4548A>G (p.Gln1516=) c.4554A>G (p.Gln1518=) c.3229A>G c.4680A>G (p.Gln1560=) c.4659A>G (p.Gln1553=) c.4566A>G (p.Gln1522=) c.3120A>G (p.Gln1040=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933672T>G | CA371065583 | KAT6A | c.4548A>C (p.Gln1516His) c.4554A>C (p.Gln1518His) c.3229A>C c.4680A>C (p.Gln1560His) c.4659A>C (p.Gln1553His) c.4566A>C (p.Gln1522His) c.3120A>C (p.Gln1040His) | |
| 8 | g.41933672T= | CA1779196011 | KAT6A | c.4548A= (p.Gln1516=) c.4554A= (p.Gln1518=) c.3229A= c.4680A= (p.Gln1560=) c.4659A= (p.Gln1553=) c.4566A= (p.Gln1522=) c.3120A= (p.Gln1040=) | |
| 8 | g.41933673T>A | CA371065585 | KAT6A | c.4547A>T (p.Gln1516Leu) c.4553A>T (p.Gln1518Leu) c.3228A>T c.4679A>T (p.Gln1560Leu) c.4658A>T (p.Gln1553Leu) c.4565A>T (p.Gln1522Leu) c.3119A>T (p.Gln1040Leu) | |
| 8 | g.41933673T>C | CA4729457 | KAT6A | c.4547A>G (p.Gln1516Arg) c.4553A>G (p.Gln1518Arg) c.3228A>G c.4679A>G (p.Gln1560Arg) c.4658A>G (p.Gln1553Arg) c.4565A>G (p.Gln1522Arg) c.3119A>G (p.Gln1040Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933673T>G | CA371065586 | KAT6A | c.4547A>C (p.Gln1516Pro) c.4553A>C (p.Gln1518Pro) c.3228A>C c.4679A>C (p.Gln1560Pro) c.4658A>C (p.Gln1553Pro) c.4565A>C (p.Gln1522Pro) c.3119A>C (p.Gln1040Pro) | |
| 8 | g.41933673T= | CA1779196012 | KAT6A | c.4547A= (p.Gln1516=) c.4553A= (p.Gln1518=) c.3228A= c.4679A= (p.Gln1560=) c.4658A= (p.Gln1553=) c.4565A= (p.Gln1522=) c.3119A= (p.Gln1040=) | |
| 8 | g.41933674G>A | CA371065587 | KAT6A | c.4546C>T (p.Gln1516Ter) c.4552C>T (p.Gln1518Ter) c.3227C>T c.4678C>T (p.Gln1560Ter) c.4657C>T (p.Gln1553Ter) c.4564C>T (p.Gln1522Ter) c.3118C>T (p.Gln1040Ter) | |
| 8 | g.41933674G>C | CA371065589 | KAT6A | c.4546C>G (p.Gln1516Glu) c.4552C>G (p.Gln1518Glu) c.3227C>G c.4678C>G (p.Gln1560Glu) c.4657C>G (p.Gln1553Glu) c.4564C>G (p.Gln1522Glu) c.3118C>G (p.Gln1040Glu) | gnomAD v4 |
| 8 | g.41933674G>T | CA371065588 | KAT6A | c.4546C>A (p.Gln1516Lys) c.4552C>A (p.Gln1518Lys) c.3227C>A c.4678C>A (p.Gln1560Lys) c.4657C>A (p.Gln1553Lys) c.4564C>A (p.Gln1522Lys) c.3118C>A (p.Gln1040Lys) | |
| 8 | g.41933675T>A | CA371065590 | KAT6A | c.4545A>T (p.Glu1515Asp) c.4551A>T (p.Glu1517Asp) c.3226A>T c.4677A>T (p.Glu1559Asp) c.4656A>T (p.Glu1552Asp) c.4563A>T (p.Glu1521Asp) c.3117A>T (p.Glu1039Asp) | |
| 8 | g.41933675T>C | CA460783646 | KAT6A | c.4545A>G (p.Glu1515=) c.4551A>G (p.Glu1517=) c.3226A>G c.4677A>G (p.Glu1559=) c.4656A>G (p.Glu1552=) c.4563A>G (p.Glu1521=) c.3117A>G (p.Glu1039=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933675T>G | CA371065591 | KAT6A | c.4545A>C (p.Glu1515Asp) c.4551A>C (p.Glu1517Asp) c.3226A>C c.4677A>C (p.Glu1559Asp) c.4656A>C (p.Glu1552Asp) c.4563A>C (p.Glu1521Asp) c.3117A>C (p.Glu1039Asp) | |
| 8 | g.41933675T= | CA1779196013 | KAT6A | c.4545A= (p.Glu1515=) c.4551A= (p.Glu1517=) c.3226A= c.4677A= (p.Glu1559=) c.4656A= (p.Glu1552=) c.4563A= (p.Glu1521=) c.3117A= (p.Glu1039=) | |
| 8 | g.41933676T>A | CA371065592 | KAT6A | c.4544A>T (p.Glu1515Val) c.4550A>T (p.Glu1517Val) c.3225A>T c.4676A>T (p.Glu1559Val) c.4655A>T (p.Glu1552Val) c.4562A>T (p.Glu1521Val) c.3116A>T (p.Glu1039Val) | |
| 8 | g.41933676T>C | CA371065593 | KAT6A | c.4544A>G (p.Glu1515Gly) c.4550A>G (p.Glu1517Gly) c.3225A>G c.4676A>G (p.Glu1559Gly) c.4655A>G (p.Glu1552Gly) c.4562A>G (p.Glu1521Gly) c.3116A>G (p.Glu1039Gly) | gnomAD v4 |
| 8 | g.41933676T>G | CA371065594 | KAT6A | c.4544A>C (p.Glu1515Ala) c.4550A>C (p.Glu1517Ala) c.3225A>C c.4676A>C (p.Glu1559Ala) c.4655A>C (p.Glu1552Ala) c.4562A>C (p.Glu1521Ala) c.3116A>C (p.Glu1039Ala) | gnomAD v4 |
| 8 | g.41933677C>A | CA371065595 | KAT6A | c.4543G>T (p.Glu1515Ter) c.4549G>T (p.Glu1517Ter) c.3224G>T c.4675G>T (p.Glu1559Ter) c.4654G>T (p.Glu1552Ter) c.4561G>T (p.Glu1521Ter) c.3115G>T (p.Glu1039Ter) | |
| 8 | g.41933677C= | CA1779196014 | KAT6A | c.4543G= (p.Glu1515=) c.4549G= (p.Glu1517=) c.3224G= c.4675G= (p.Glu1559=) c.4654G= (p.Glu1552=) c.4561G= (p.Glu1521=) c.3115G= (p.Glu1039=) | |
| 8 | g.41933677C>G | CA4729458 | KAT6A | c.4543G>C (p.Glu1515Gln) c.4549G>C (p.Glu1517Gln) c.3224G>C c.4675G>C (p.Glu1559Gln) c.4654G>C (p.Glu1552Gln) c.4561G>C (p.Glu1521Gln) c.3115G>C (p.Glu1039Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933677C>T | CA371065596 | KAT6A | c.4543G>A (p.Glu1515Lys) c.4549G>A (p.Glu1517Lys) c.3224G>A c.4675G>A (p.Glu1559Lys) c.4654G>A (p.Glu1552Lys) c.4561G>A (p.Glu1521Lys) c.3115G>A (p.Glu1039Lys) | |
| 8 | g.41933678T>A | CA460783651 | KAT6A | c.4542A>T (p.Pro1514=) c.4548A>T (p.Pro1516=) c.3223A>T c.4674A>T (p.Pro1558=) c.4653A>T (p.Pro1551=) c.4560A>T (p.Pro1520=) c.3114A>T (p.Pro1038=) | |
| 8 | g.41933678T>C | CA460783652 | KAT6A | c.4542A>G (p.Pro1514=) c.4548A>G (p.Pro1516=) c.3223A>G c.4674A>G (p.Pro1558=) c.4653A>G (p.Pro1551=) c.4560A>G (p.Pro1520=) c.3114A>G (p.Pro1038=) | |
| 8 | g.41933678T>G | CA460783653 | KAT6A | c.4542A>C (p.Pro1514=) c.4548A>C (p.Pro1516=) c.3223A>C c.4674A>C (p.Pro1558=) c.4653A>C (p.Pro1551=) c.4560A>C (p.Pro1520=) c.3114A>C (p.Pro1038=) | |
| 8 | g.41933679G>A | CA371065597 | KAT6A | c.4541C>T (p.Pro1514Leu) c.4547C>T (p.Pro1516Leu) c.3222C>T c.4673C>T (p.Pro1558Leu) c.4652C>T (p.Pro1551Leu) c.4559C>T (p.Pro1520Leu) c.3113C>T (p.Pro1038Leu) | gnomAD v4 |
| 8 | g.41933679G>C | CA371065598 | KAT6A | c.4541C>G (p.Pro1514Arg) c.4547C>G (p.Pro1516Arg) c.3222C>G c.4673C>G (p.Pro1558Arg) c.4652C>G (p.Pro1551Arg) c.4559C>G (p.Pro1520Arg) c.3113C>G (p.Pro1038Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933679G= | CA1779196015 | KAT6A | c.4541C= (p.Pro1514=) c.4547C= (p.Pro1516=) c.3222C= c.4673C= (p.Pro1558=) c.4652C= (p.Pro1551=) c.4559C= (p.Pro1520=) c.3113C= (p.Pro1038=) | |
| 8 | g.41933679G>T | CA371065599 | KAT6A | c.4541C>A (p.Pro1514Gln) c.4547C>A (p.Pro1516Gln) c.3222C>A c.4673C>A (p.Pro1558Gln) c.4652C>A (p.Pro1551Gln) c.4559C>A (p.Pro1520Gln) c.3113C>A (p.Pro1038Gln) | |
| 8 | g.41933680G>A | CA371065602 | KAT6A | c.4540C>T (p.Pro1514Ser) c.4546C>T (p.Pro1516Ser) c.3221C>T c.4672C>T (p.Pro1558Ser) c.4651C>T (p.Pro1551Ser) c.4558C>T (p.Pro1520Ser) c.3112C>T (p.Pro1038Ser) | |
| 8 | g.41933680G>C | CA371065601 | KAT6A | c.4540C>G (p.Pro1514Ala) c.4546C>G (p.Pro1516Ala) c.3221C>G c.4672C>G (p.Pro1558Ala) c.4651C>G (p.Pro1551Ala) c.4558C>G (p.Pro1520Ala) c.3112C>G (p.Pro1038Ala) | |
| 8 | g.41933680G>T | CA371065600 | KAT6A | c.4540C>A (p.Pro1514Thr) c.4546C>A (p.Pro1516Thr) c.3221C>A c.4672C>A (p.Pro1558Thr) c.4651C>A (p.Pro1551Thr) c.4558C>A (p.Pro1520Thr) c.3112C>A (p.Pro1038Thr) | |
| 8 | g.41933681G>A | CA460783664 | KAT6A | c.4539C>T (p.Ser1513=) c.4545C>T (p.Ser1515=) c.3220C>T c.4671C>T (p.Ser1557=) c.4650C>T (p.Ser1550=) c.4557C>T (p.Ser1519=) c.3111C>T (p.Ser1037=) | |
| 8 | g.41933681G>C | CA371065603 | KAT6A | c.4539C>G (p.Ser1513Arg) c.4545C>G (p.Ser1515Arg) c.3220C>G c.4671C>G (p.Ser1557Arg) c.4650C>G (p.Ser1550Arg) c.4557C>G (p.Ser1519Arg) c.3111C>G (p.Ser1037Arg) | |
| 8 | g.41933681G>T | CA371065604 | KAT6A | c.4539C>A (p.Ser1513Arg) c.4545C>A (p.Ser1515Arg) c.3220C>A c.4671C>A (p.Ser1557Arg) c.4650C>A (p.Ser1550Arg) c.4557C>A (p.Ser1519Arg) c.3111C>A (p.Ser1037Arg) | |
| 8 | g.41933682C>A | CA371065605 | KAT6A | c.4538G>T (p.Ser1513Ile) c.4544G>T (p.Ser1515Ile) c.3219G>T c.4670G>T (p.Ser1557Ile) c.4649G>T (p.Ser1550Ile) c.4556G>T (p.Ser1519Ile) c.3110G>T (p.Ser1037Ile) | |
| 8 | g.41933682C>G | CA371065606 | KAT6A | c.4538G>C (p.Ser1513Thr) c.4544G>C (p.Ser1515Thr) c.3219G>C c.4670G>C (p.Ser1557Thr) c.4649G>C (p.Ser1550Thr) c.4556G>C (p.Ser1519Thr) c.3110G>C (p.Ser1037Thr) | |
| 8 | g.41933682C>T | CA371065607 | KAT6A | c.4538G>A (p.Ser1513Asn) c.4544G>A (p.Ser1515Asn) c.3219G>A c.4670G>A (p.Ser1557Asn) c.4649G>A (p.Ser1550Asn) c.4556G>A (p.Ser1519Asn) c.3110G>A (p.Ser1037Asn) | |
| 8 | g.41933683T>A | CA371065608 | KAT6A | c.4537A>T (p.Ser1513Cys) c.4543A>T (p.Ser1515Cys) c.3218A>T c.4669A>T (p.Ser1557Cys) c.4648A>T (p.Ser1550Cys) c.4555A>T (p.Ser1519Cys) c.3109A>T (p.Ser1037Cys) | |
| 8 | g.41933683T>C | CA371065609 | KAT6A | c.4537A>G (p.Ser1513Gly) c.4543A>G (p.Ser1515Gly) c.3218A>G c.4669A>G (p.Ser1557Gly) c.4648A>G (p.Ser1550Gly) c.4555A>G (p.Ser1519Gly) c.3109A>G (p.Ser1037Gly) | |
| 8 | g.41933683T>G | CA371065610 | KAT6A | c.4537A>C (p.Ser1513Arg) c.4543A>C (p.Ser1515Arg) c.3218A>C c.4669A>C (p.Ser1557Arg) c.4648A>C (p.Ser1550Arg) c.4555A>C (p.Ser1519Arg) c.3109A>C (p.Ser1037Arg) | |
| 8 | g.41933684G>A | CA460783678 | KAT6A | c.4536C>T (p.Ile1512=) c.4542C>T (p.Ile1514=) c.3217C>T c.4668C>T (p.Ile1556=) c.4647C>T (p.Ile1549=) c.4554C>T (p.Ile1518=) c.3108C>T (p.Ile1036=) | |
| 8 | g.41933684G>C | CA371065611 | KAT6A | c.4536C>G (p.Ile1512Met) c.4542C>G (p.Ile1514Met) c.3217C>G c.4668C>G (p.Ile1556Met) c.4647C>G (p.Ile1549Met) c.4554C>G (p.Ile1518Met) c.3108C>G (p.Ile1036Met) | |
| 8 | g.41933684G>T | CA460783679 | KAT6A | c.4536C>A (p.Ile1512=) c.4542C>A (p.Ile1514=) c.3217C>A c.4668C>A (p.Ile1556=) c.4647C>A (p.Ile1549=) c.4554C>A (p.Ile1518=) c.3108C>A (p.Ile1036=) | |
| 8 | g.41933685A>C | CA371065612 | KAT6A | c.4535T>G (p.Ile1512Ser) c.4541T>G (p.Ile1514Ser) c.3216T>G c.4667T>G (p.Ile1556Ser) c.4646T>G (p.Ile1549Ser) c.4553T>G (p.Ile1518Ser) c.3107T>G (p.Ile1036Ser) | |
| 8 | g.41933685A>G | CA371065613 | KAT6A | c.4535T>C (p.Ile1512Thr) c.4541T>C (p.Ile1514Thr) c.3216T>C c.4667T>C (p.Ile1556Thr) c.4646T>C (p.Ile1549Thr) c.4553T>C (p.Ile1518Thr) c.3107T>C (p.Ile1036Thr) | |
| 8 | g.41933685A>T | CA371065614 | KAT6A | c.4535T>A (p.Ile1512Asn) c.4541T>A (p.Ile1514Asn) c.3216T>A c.4667T>A (p.Ile1556Asn) c.4646T>A (p.Ile1549Asn) c.4553T>A (p.Ile1518Asn) c.3107T>A (p.Ile1036Asn) | |
| 8 | g.41933686T>A | CA371065617 | KAT6A | c.4534A>T (p.Ile1512Phe) c.4540A>T (p.Ile1514Phe) c.3215A>T c.4666A>T (p.Ile1556Phe) c.4645A>T (p.Ile1549Phe) c.4552A>T (p.Ile1518Phe) c.3106A>T (p.Ile1036Phe) | |
| 8 | g.41933686T>C | CA371065616 | KAT6A | c.4534A>G (p.Ile1512Val) c.4540A>G (p.Ile1514Val) c.3215A>G c.4666A>G (p.Ile1556Val) c.4645A>G (p.Ile1549Val) c.4552A>G (p.Ile1518Val) c.3106A>G (p.Ile1036Val) | |
| 8 | g.41933686T>G | CA371065615 | KAT6A | c.4534A>C (p.Ile1512Leu) c.4540A>C (p.Ile1514Leu) c.3215A>C c.4666A>C (p.Ile1556Leu) c.4645A>C (p.Ile1549Leu) c.4552A>C (p.Ile1518Leu) c.3106A>C (p.Ile1036Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933686T= | CA1779196016 | KAT6A | c.4534A= (p.Ile1512=) c.4540A= (p.Ile1514=) c.3215A= c.4666A= (p.Ile1556=) c.4645A= (p.Ile1549=) c.4552A= (p.Ile1518=) c.3106A= (p.Ile1036=) | |
| 8 | g.41933687C>A | CA371065618 | KAT6A | c.4533G>T (p.Gln1511His) c.4539G>T (p.Gln1513His) c.3214G>T c.4665G>T (p.Gln1555His) c.4644G>T (p.Gln1548His) c.4551G>T (p.Gln1517His) c.3105G>T (p.Gln1035His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933687C= | CA1779196017 | KAT6A | c.4533G= (p.Gln1511=) c.4539G= (p.Gln1513=) c.3214G= c.4665G= (p.Gln1555=) c.4644G= (p.Gln1548=) c.4551G= (p.Gln1517=) c.3105G= (p.Gln1035=) | |
| 8 | g.41933687C>G | CA4729459 | KAT6A | c.4533G>C (p.Gln1511His) c.4539G>C (p.Gln1513His) c.3214G>C c.4665G>C (p.Gln1555His) c.4644G>C (p.Gln1548His) c.4551G>C (p.Gln1517His) c.3105G>C (p.Gln1035His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933687C>T | CA460783680 | KAT6A | c.4533G>A (p.Gln1511=) c.4539G>A (p.Gln1513=) c.3214G>A c.4665G>A (p.Gln1555=) c.4644G>A (p.Gln1548=) c.4551G>A (p.Gln1517=) c.3105G>A (p.Gln1035=) | |
| 8 | g.41933688T>A | CA371065619 | KAT6A | c.4532A>T (p.Gln1511Leu) c.4538A>T (p.Gln1513Leu) c.3213A>T c.4664A>T (p.Gln1555Leu) c.4643A>T (p.Gln1548Leu) c.4550A>T (p.Gln1517Leu) c.3104A>T (p.Gln1035Leu) | COSMIC |
| 8 | g.41933688T>C | CA371065620 | KAT6A | c.4532A>G (p.Gln1511Arg) c.4538A>G (p.Gln1513Arg) c.3213A>G c.4664A>G (p.Gln1555Arg) c.4643A>G (p.Gln1548Arg) c.4550A>G (p.Gln1517Arg) c.3104A>G (p.Gln1035Arg) | |
| 8 | g.41933688T>G | CA371065621 | KAT6A | c.4532A>C (p.Gln1511Pro) c.4538A>C (p.Gln1513Pro) c.3213A>C c.4664A>C (p.Gln1555Pro) c.4643A>C (p.Gln1548Pro) c.4550A>C (p.Gln1517Pro) c.3104A>C (p.Gln1035Pro) | |
| 8 | g.41933689G>A | CA371065622 | KAT6A | c.4531C>T (p.Gln1511Ter) c.4537C>T (p.Gln1513Ter) c.3212C>T c.4663C>T (p.Gln1555Ter) c.4642C>T (p.Gln1548Ter) c.4549C>T (p.Gln1517Ter) c.3103C>T (p.Gln1035Ter) | |
| 8 | g.41933689G>C | CA371065623 | KAT6A | c.4531C>G (p.Gln1511Glu) c.4537C>G (p.Gln1513Glu) c.3212C>G c.4663C>G (p.Gln1555Glu) c.4642C>G (p.Gln1548Glu) c.4549C>G (p.Gln1517Glu) c.3103C>G (p.Gln1035Glu) | |
| 8 | g.41933689G>T | CA371065624 | KAT6A | c.4531C>A (p.Gln1511Lys) c.4537C>A (p.Gln1513Lys) c.3212C>A c.4663C>A (p.Gln1555Lys) c.4642C>A (p.Gln1548Lys) c.4549C>A (p.Gln1517Lys) c.3103C>A (p.Gln1035Lys) | |
| 8 | g.41933690G>A | CA460783693 | KAT6A | c.4530C>T (p.Thr1510=) c.4536C>T (p.Thr1512=) c.3211C>T c.4662C>T (p.Thr1554=) c.4641C>T (p.Thr1547=) c.4548C>T (p.Thr1516=) c.3102C>T (p.Thr1034=) | |
| 8 | g.41933690G>C | CA460783690 | KAT6A | c.4530C>G (p.Thr1510=) c.4536C>G (p.Thr1512=) c.3211C>G c.4662C>G (p.Thr1554=) c.4641C>G (p.Thr1547=) c.4548C>G (p.Thr1516=) c.3102C>G (p.Thr1034=) | gnomAD v4 |
| 8 | g.41933690G>T | CA460783688 | KAT6A | c.4530C>A (p.Thr1510=) c.4536C>A (p.Thr1512=) c.3211C>A c.4662C>A (p.Thr1554=) c.4641C>A (p.Thr1547=) c.4548C>A (p.Thr1516=) c.3102C>A (p.Thr1034=) | |
| 8 | g.41933691G>A | CA371065625 | KAT6A | c.4529C>T (p.Thr1510Ile) c.4535C>T (p.Thr1512Ile) c.3210C>T c.4661C>T (p.Thr1554Ile) c.4640C>T (p.Thr1547Ile) c.4547C>T (p.Thr1516Ile) c.3101C>T (p.Thr1034Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933691G>C | CA371065626 | KAT6A | c.4529C>G (p.Thr1510Ser) c.4535C>G (p.Thr1512Ser) c.3210C>G c.4661C>G (p.Thr1554Ser) c.4640C>G (p.Thr1547Ser) c.4547C>G (p.Thr1516Ser) c.3101C>G (p.Thr1034Ser) | |
| 8 | g.41933691G= | CA1779196018 | KAT6A | c.4529C= (p.Thr1510=) c.4535C= (p.Thr1512=) c.3210C= c.4661C= (p.Thr1554=) c.4640C= (p.Thr1547=) c.4547C= (p.Thr1516=) c.3101C= (p.Thr1034=) | |
| 8 | g.41933691G>T | CA371065627 | KAT6A | c.4529C>A (p.Thr1510Asn) c.4535C>A (p.Thr1512Asn) c.3210C>A c.4661C>A (p.Thr1554Asn) c.4640C>A (p.Thr1547Asn) c.4547C>A (p.Thr1516Asn) c.3101C>A (p.Thr1034Asn) | |
| 8 | g.41933692T>A | CA371065628 | KAT6A | c.4528A>T (p.Thr1510Ser) c.4534A>T (p.Thr1512Ser) c.3209A>T c.4660A>T (p.Thr1554Ser) c.4639A>T (p.Thr1547Ser) c.4546A>T (p.Thr1516Ser) c.3100A>T (p.Thr1034Ser) | gnomAD v4 |
| 8 | g.41933692T>C | CA371065629 | KAT6A | c.4528A>G (p.Thr1510Ala) c.4534A>G (p.Thr1512Ala) c.3209A>G c.4660A>G (p.Thr1554Ala) c.4639A>G (p.Thr1547Ala) c.4546A>G (p.Thr1516Ala) c.3100A>G (p.Thr1034Ala) | ClinVar |
| 8 | g.41933692T>G | CA371065630 | KAT6A | c.4528A>C (p.Thr1510Pro) c.4534A>C (p.Thr1512Pro) c.3209A>C c.4660A>C (p.Thr1554Pro) c.4639A>C (p.Thr1547Pro) c.4546A>C (p.Thr1516Pro) c.3100A>C (p.Thr1034Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933692T= | CA1779196019 | KAT6A | c.4528A= (p.Thr1510=) c.4534A= (p.Thr1512=) c.3209A= c.4660A= (p.Thr1554=) c.4639A= (p.Thr1547=) c.4546A= (p.Thr1516=) c.3100A= (p.Thr1034=) | |
| 8 | g.41933693G>A | CA460783698 | KAT6A | c.4527C>T (p.Tyr1509=) c.4533C>T (p.Tyr1511=) c.3208C>T c.4659C>T (p.Tyr1553=) c.4638C>T (p.Tyr1546=) c.4545C>T (p.Tyr1515=) c.3099C>T (p.Tyr1033=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933693G>C | CA371065631 | KAT6A | c.4527C>G (p.Tyr1509Ter) c.4533C>G (p.Tyr1511Ter) c.3208C>G c.4659C>G (p.Tyr1553Ter) c.4638C>G (p.Tyr1546Ter) c.4545C>G (p.Tyr1515Ter) c.3099C>G (p.Tyr1033Ter) | |
| 8 | g.41933693G= | CA1779196020 | KAT6A | c.4527C= (p.Tyr1509=) c.4533C= (p.Tyr1511=) c.3208C= c.4659C= (p.Tyr1553=) c.4638C= (p.Tyr1546=) c.4545C= (p.Tyr1515=) c.3099C= (p.Tyr1033=) | |
| 8 | g.41933693G>T | CA4729460 | KAT6A | c.4527C>A (p.Tyr1509Ter) c.4533C>A (p.Tyr1511Ter) c.3208C>A c.4659C>A (p.Tyr1553Ter) c.4638C>A (p.Tyr1546Ter) c.4545C>A (p.Tyr1515Ter) c.3099C>A (p.Tyr1033Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933694T>A | CA371065632 | KAT6A | c.4526A>T (p.Tyr1509Phe) c.4532A>T (p.Tyr1511Phe) c.3207A>T c.4658A>T (p.Tyr1553Phe) c.4637A>T (p.Tyr1546Phe) c.4544A>T (p.Tyr1515Phe) c.3098A>T (p.Tyr1033Phe) | |
| 8 | g.41933694T>C | CA371065633 | KAT6A | c.4526A>G (p.Tyr1509Cys) c.4532A>G (p.Tyr1511Cys) c.3207A>G c.4658A>G (p.Tyr1553Cys) c.4637A>G (p.Tyr1546Cys) c.4544A>G (p.Tyr1515Cys) c.3098A>G (p.Tyr1033Cys) | gnomAD v4 |
| 8 | g.41933694T>G | CA371065634 | KAT6A | c.4526A>C (p.Tyr1509Ser) c.4532A>C (p.Tyr1511Ser) c.3207A>C c.4658A>C (p.Tyr1553Ser) c.4637A>C (p.Tyr1546Ser) c.4544A>C (p.Tyr1515Ser) c.3098A>C (p.Tyr1033Ser) | |
| 8 | g.41933695A= | CA1779196021 | KAT6A | c.4525T= (p.Tyr1509=) c.4531T= (p.Tyr1511=) c.3206T= c.4657T= (p.Tyr1553=) c.4636T= (p.Tyr1546=) c.4543T= (p.Tyr1515=) c.3097T= (p.Tyr1033=) | |
| 8 | g.41933695A>C | CA371065635 | KAT6A | c.4525T>G (p.Tyr1509Asp) c.4531T>G (p.Tyr1511Asp) c.3206T>G c.4657T>G (p.Tyr1553Asp) c.4636T>G (p.Tyr1546Asp) c.4543T>G (p.Tyr1515Asp) c.3097T>G (p.Tyr1033Asp) | |
| 8 | g.41933695A>G | CA371065636 | KAT6A | c.4525T>C (p.Tyr1509His) c.4531T>C (p.Tyr1511His) c.3206T>C c.4657T>C (p.Tyr1553His) c.4636T>C (p.Tyr1546His) c.4543T>C (p.Tyr1515His) c.3097T>C (p.Tyr1033His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933695A>T | CA371065637 | KAT6A | c.4525T>A (p.Tyr1509Asn) c.4531T>A (p.Tyr1511Asn) c.3206T>A c.4657T>A (p.Tyr1553Asn) c.4636T>A (p.Tyr1546Asn) c.4543T>A (p.Tyr1515Asn) c.3097T>A (p.Tyr1033Asn) | |
| 8 | g.41933696G>A | CA460783704 | KAT6A | c.4524C>T (p.Gly1508=) c.4530C>T (p.Gly1510=) c.3205C>T c.4656C>T (p.Gly1552=) c.4635C>T (p.Gly1545=) c.4542C>T (p.Gly1514=) c.3096C>T (p.Gly1032=) | |
| 8 | g.41933696G>C | CA460783707 | KAT6A | c.4524C>G (p.Gly1508=) c.4530C>G (p.Gly1510=) c.3205C>G c.4656C>G (p.Gly1552=) c.4635C>G (p.Gly1545=) c.4542C>G (p.Gly1514=) c.3096C>G (p.Gly1032=) | |
| 8 | g.41933696G>T | CA460783706 | KAT6A | c.4524C>A (p.Gly1508=) c.4530C>A (p.Gly1510=) c.3205C>A c.4656C>A (p.Gly1552=) c.4635C>A (p.Gly1545=) c.4542C>A (p.Gly1514=) c.3096C>A (p.Gly1032=) | |
| 8 | g.41933697C>A | CA371065638 | KAT6A | c.4523G>T (p.Gly1508Val) c.4529G>T (p.Gly1510Val) c.3204G>T c.4655G>T (p.Gly1552Val) c.4634G>T (p.Gly1545Val) c.4541G>T (p.Gly1514Val) c.3095G>T (p.Gly1032Val) | |
| 8 | g.41933697C>G | CA371065639 | KAT6A | c.4523G>C (p.Gly1508Ala) c.4529G>C (p.Gly1510Ala) c.3204G>C c.4655G>C (p.Gly1552Ala) c.4634G>C (p.Gly1545Ala) c.4541G>C (p.Gly1514Ala) c.3095G>C (p.Gly1032Ala) | |
| 8 | g.41933697C>T | CA371065640 | KAT6A | c.4523G>A (p.Gly1508Asp) c.4529G>A (p.Gly1510Asp) c.3204G>A c.4655G>A (p.Gly1552Asp) c.4634G>A (p.Gly1545Asp) c.4541G>A (p.Gly1514Asp) c.3095G>A (p.Gly1032Asp) | |
| 8 | g.41933698C>A | CA371065641 | KAT6A | c.4522G>T (p.Gly1508Cys) c.4528G>T (p.Gly1510Cys) c.3203G>T c.4654G>T (p.Gly1552Cys) c.4633G>T (p.Gly1545Cys) c.4540G>T (p.Gly1514Cys) c.3094G>T (p.Gly1032Cys) | |
| 8 | g.41933698C>G | CA371065642 | KAT6A | c.4522G>C (p.Gly1508Arg) c.4528G>C (p.Gly1510Arg) c.3203G>C c.4654G>C (p.Gly1552Arg) c.4633G>C (p.Gly1545Arg) c.4540G>C (p.Gly1514Arg) c.3094G>C (p.Gly1032Arg) | |
| 8 | g.41933698C>T | CA371065643 | KAT6A | c.4522G>A (p.Gly1508Ser) c.4528G>A (p.Gly1510Ser) c.3203G>A c.4654G>A (p.Gly1552Ser) c.4633G>A (p.Gly1545Ser) c.4540G>A (p.Gly1514Ser) c.3094G>A (p.Gly1032Ser) | |
| 8 | g.41933699A= | CA1779196022 | KAT6A | c.4521T= (p.Ser1507=) c.4527T= (p.Ser1509=) c.3202T= c.4653T= (p.Ser1551=) c.4632T= (p.Ser1544=) c.4539T= (p.Ser1513=) c.3093T= (p.Ser1031=) | |
| 8 | g.41933699A>C | CA371065644 | KAT6A | c.4521T>G (p.Ser1507Arg) c.4527T>G (p.Ser1509Arg) c.3202T>G c.4653T>G (p.Ser1551Arg) c.4632T>G (p.Ser1544Arg) c.4539T>G (p.Ser1513Arg) c.3093T>G (p.Ser1031Arg) | |
| 8 | g.41933699A>G | CA175939264 | KAT6A | c.4521T>C (p.Ser1507=) c.4527T>C (p.Ser1509=) c.3202T>C c.4653T>C (p.Ser1551=) c.4632T>C (p.Ser1544=) c.4539T>C (p.Ser1513=) c.3093T>C (p.Ser1031=) | dbSNP gnomAD v4 |
| 8 | g.41933699A>T | CA371065645 | KAT6A | c.4521T>A (p.Ser1507Arg) c.4527T>A (p.Ser1509Arg) c.3202T>A c.4653T>A (p.Ser1551Arg) c.4632T>A (p.Ser1544Arg) c.4539T>A (p.Ser1513Arg) c.3093T>A (p.Ser1031Arg) | |
| 8 | g.41933700C>A | CA371065647 | KAT6A | c.4520G>T (p.Ser1507Ile) c.4526G>T (p.Ser1509Ile) c.3201G>T c.4652G>T (p.Ser1551Ile) c.4631G>T (p.Ser1544Ile) c.4538G>T (p.Ser1513Ile) c.3092G>T (p.Ser1031Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933700C= | CA1779196023 | KAT6A | c.4520G= (p.Ser1507=) c.4526G= (p.Ser1509=) c.3201G= c.4652G= (p.Ser1551=) c.4631G= (p.Ser1544=) c.4538G= (p.Ser1513=) c.3092G= (p.Ser1031=) | |
| 8 | g.41933700C>G | CA371065648 | KAT6A | c.4520G>C (p.Ser1507Thr) c.4526G>C (p.Ser1509Thr) c.3201G>C c.4652G>C (p.Ser1551Thr) c.4631G>C (p.Ser1544Thr) c.4538G>C (p.Ser1513Thr) c.3092G>C (p.Ser1031Thr) | |
| 8 | g.41933700C>T | CA371065646 | KAT6A | c.4520G>A (p.Ser1507Asn) c.4526G>A (p.Ser1509Asn) c.3201G>A c.4652G>A (p.Ser1551Asn) c.4631G>A (p.Ser1544Asn) c.4538G>A (p.Ser1513Asn) c.3092G>A (p.Ser1031Asn) | |
| 8 | g.41933701T>A | CA371065649 | KAT6A | c.4519A>T (p.Ser1507Cys) c.4525A>T (p.Ser1509Cys) c.3200A>T c.4651A>T (p.Ser1551Cys) c.4630A>T (p.Ser1544Cys) c.4537A>T (p.Ser1513Cys) c.3091A>T (p.Ser1031Cys) | |
| 8 | g.41933701T>C | CA371065651 | KAT6A | c.4519A>G (p.Ser1507Gly) c.4525A>G (p.Ser1509Gly) c.3200A>G c.4651A>G (p.Ser1551Gly) c.4630A>G (p.Ser1544Gly) c.4537A>G (p.Ser1513Gly) c.3091A>G (p.Ser1031Gly) | gnomAD v4 |
| 8 | g.41933701T>G | CA371065650 | KAT6A | c.4519A>C (p.Ser1507Arg) c.4525A>C (p.Ser1509Arg) c.3200A>C c.4651A>C (p.Ser1551Arg) c.4630A>C (p.Ser1544Arg) c.4537A>C (p.Ser1513Arg) c.3091A>C (p.Ser1031Arg) | |
| 8 | g.41933702C>A | CA371065652 | KAT6A | c.4518G>T (p.Glu1506Asp) c.4524G>T (p.Glu1508Asp) c.3199G>T c.4650G>T (p.Glu1550Asp) c.4629G>T (p.Glu1543Asp) c.4536G>T (p.Glu1512Asp) c.3090G>T (p.Glu1030Asp) | |
| 8 | g.41933702C= | CA1779196024 | KAT6A | c.4518G= (p.Glu1506=) c.4524G= (p.Glu1508=) c.3199G= c.4650G= (p.Glu1550=) c.4629G= (p.Glu1543=) c.4536G= (p.Glu1512=) c.3090G= (p.Glu1030=) | |
| 8 | g.41933702C>G | CA371065653 | KAT6A | c.4518G>C (p.Glu1506Asp) c.4524G>C (p.Glu1508Asp) c.3199G>C c.4650G>C (p.Glu1550Asp) c.4629G>C (p.Glu1543Asp) c.4536G>C (p.Glu1512Asp) c.3090G>C (p.Glu1030Asp) | |
| 8 | g.41933702C>T | CA4729461 | KAT6A | c.4518G>A (p.Glu1506=) c.4524G>A (p.Glu1508=) c.3199G>A c.4650G>A (p.Glu1550=) c.4629G>A (p.Glu1543=) c.4536G>A (p.Glu1512=) c.3090G>A (p.Glu1030=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933703T>A | CA371065654 | KAT6A | c.4517A>T (p.Glu1506Val) c.4523A>T (p.Glu1508Val) c.3198A>T c.4649A>T (p.Glu1550Val) c.4628A>T (p.Glu1543Val) c.4535A>T (p.Glu1512Val) c.3089A>T (p.Glu1030Val) | |
| 8 | g.41933703T>C | CA371065655 | KAT6A | c.4517A>G (p.Glu1506Gly) c.4523A>G (p.Glu1508Gly) c.3198A>G c.4649A>G (p.Glu1550Gly) c.4628A>G (p.Glu1543Gly) c.4535A>G (p.Glu1512Gly) c.3089A>G (p.Glu1030Gly) | ClinVar |
| 8 | g.41933703T>G | CA371065656 | KAT6A | c.4517A>C (p.Glu1506Ala) c.4523A>C (p.Glu1508Ala) c.3198A>C c.4649A>C (p.Glu1550Ala) c.4628A>C (p.Glu1543Ala) c.4535A>C (p.Glu1512Ala) c.3089A>C (p.Glu1030Ala) | |
| 8 | g.41933704C>A | CA371065657 | KAT6A | c.4516G>T (p.Glu1506Ter) c.4522G>T (p.Glu1508Ter) c.3197G>T c.4648G>T (p.Glu1550Ter) c.4627G>T (p.Glu1543Ter) c.4534G>T (p.Glu1512Ter) c.3088G>T (p.Glu1030Ter) | |
| 8 | g.41933704C>G | CA371065658 | KAT6A | c.4516G>C (p.Glu1506Gln) c.4522G>C (p.Glu1508Gln) c.3197G>C c.4648G>C (p.Glu1550Gln) c.4627G>C (p.Glu1543Gln) c.4534G>C (p.Glu1512Gln) c.3088G>C (p.Glu1030Gln) | gnomAD v4 |
| 8 | g.41933704C>T | CA371065659 | KAT6A | c.4516G>A (p.Glu1506Lys) c.4522G>A (p.Glu1508Lys) c.3197G>A c.4648G>A (p.Glu1550Lys) c.4627G>A (p.Glu1543Lys) c.4534G>A (p.Glu1512Lys) c.3088G>A (p.Glu1030Lys) | |
| 8 | g.41933705A>C | CA460783728 | KAT6A | c.4515T>G (p.Leu1505=) c.4521T>G (p.Leu1507=) c.3196T>G c.4647T>G (p.Leu1549=) c.4626T>G (p.Leu1542=) c.4533T>G (p.Leu1511=) c.3087T>G (p.Leu1029=) | |
| 8 | g.41933705A>G | CA460783729 | KAT6A | c.4515T>C (p.Leu1505=) c.4521T>C (p.Leu1507=) c.3196T>C c.4647T>C (p.Leu1549=) c.4626T>C (p.Leu1542=) c.4533T>C (p.Leu1511=) c.3087T>C (p.Leu1029=) | dbSNP gnomAD v4 |
| 8 | g.41933705A>T | CA460783731 | KAT6A | c.4515T>A (p.Leu1505=) c.4521T>A (p.Leu1507=) c.3196T>A c.4647T>A (p.Leu1549=) c.4626T>A (p.Leu1542=) c.4533T>A (p.Leu1511=) c.3087T>A (p.Leu1029=) | |
| 8 | g.41933706A>C | CA371065660 | KAT6A | c.4514T>G (p.Leu1505Arg) c.4520T>G (p.Leu1507Arg) c.3195T>G c.4646T>G (p.Leu1549Arg) c.4625T>G (p.Leu1542Arg) c.4532T>G (p.Leu1511Arg) c.3086T>G (p.Leu1029Arg) | |
| 8 | g.41933706A>G | CA371065661 | KAT6A | c.4514T>C (p.Leu1505Pro) c.4520T>C (p.Leu1507Pro) c.3195T>C c.4646T>C (p.Leu1549Pro) c.4625T>C (p.Leu1542Pro) c.4532T>C (p.Leu1511Pro) c.3086T>C (p.Leu1029Pro) | |
| 8 | g.41933706A>T | CA371065662 | KAT6A | c.4514T>A (p.Leu1505His) c.4520T>A (p.Leu1507His) c.3195T>A c.4646T>A (p.Leu1549His) c.4625T>A (p.Leu1542His) c.4532T>A (p.Leu1511His) c.3086T>A (p.Leu1029His) | |
| 8 | g.41933707G>A | CA371065665 | KAT6A | c.4513C>T (p.Leu1505Phe) c.4519C>T (p.Leu1507Phe) c.3194C>T c.4645C>T (p.Leu1549Phe) c.4624C>T (p.Leu1542Phe) c.4531C>T (p.Leu1511Phe) c.3085C>T (p.Leu1029Phe) | |
| 8 | g.41933707G>C | CA371065663 | KAT6A | c.4513C>G (p.Leu1505Val) c.4519C>G (p.Leu1507Val) c.3194C>G c.4645C>G (p.Leu1549Val) c.4624C>G (p.Leu1542Val) c.4531C>G (p.Leu1511Val) c.3085C>G (p.Leu1029Val) | dbSNP |
| 8 | g.41933707G= | CA1779196025 | KAT6A | c.4513C= (p.Leu1505=) c.4519C= (p.Leu1507=) c.3194C= c.4645C= (p.Leu1549=) c.4624C= (p.Leu1542=) c.4531C= (p.Leu1511=) c.3085C= (p.Leu1029=) | |
| 8 | g.41933707G>T | CA371065664 | KAT6A | c.4513C>A (p.Leu1505Ile) c.4519C>A (p.Leu1507Ile) c.3194C>A c.4645C>A (p.Leu1549Ile) c.4624C>A (p.Leu1542Ile) c.4531C>A (p.Leu1511Ile) c.3085C>A (p.Leu1029Ile) | |
| 8 | g.41933708G>A | CA4729462 | KAT6A | c.4512C>T (p.Ala1504=) c.4518C>T (p.Ala1506=) c.3193C>T c.4644C>T (p.Ala1548=) c.4623C>T (p.Ala1541=) c.4530C>T (p.Ala1510=) c.3084C>T (p.Ala1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933708G>C | CA460783734 | KAT6A | c.4512C>G (p.Ala1504=) c.4518C>G (p.Ala1506=) c.3193C>G c.4644C>G (p.Ala1548=) c.4623C>G (p.Ala1541=) c.4530C>G (p.Ala1510=) c.3084C>G (p.Ala1028=) | |
| 8 | g.41933708G= | CA1779196026 | KAT6A | c.4512C= (p.Ala1504=) c.4518C= (p.Ala1506=) c.3193C= c.4644C= (p.Ala1548=) c.4623C= (p.Ala1541=) c.4530C= (p.Ala1510=) c.3084C= (p.Ala1028=) | |
| 8 | g.41933708G>T | CA460783735 | KAT6A | c.4512C>A (p.Ala1504=) c.4518C>A (p.Ala1506=) c.3193C>A c.4644C>A (p.Ala1548=) c.4623C>A (p.Ala1541=) c.4530C>A (p.Ala1510=) c.3084C>A (p.Ala1028=) | |
| 8 | g.41933709G>A | CA371065666 | KAT6A | c.4511C>T (p.Ala1504Val) c.4517C>T (p.Ala1506Val) c.3192C>T c.4643C>T (p.Ala1548Val) c.4622C>T (p.Ala1541Val) c.4529C>T (p.Ala1510Val) c.3083C>T (p.Ala1028Val) | |
| 8 | g.41933709G>C | CA371065667 | KAT6A | c.4511C>G (p.Ala1504Gly) c.4517C>G (p.Ala1506Gly) c.3192C>G c.4643C>G (p.Ala1548Gly) c.4622C>G (p.Ala1541Gly) c.4529C>G (p.Ala1510Gly) c.3083C>G (p.Ala1028Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933709G= | CA1779196027 | KAT6A | c.4511C= (p.Ala1504=) c.4517C= (p.Ala1506=) c.3192C= c.4643C= (p.Ala1548=) c.4622C= (p.Ala1541=) c.4529C= (p.Ala1510=) c.3083C= (p.Ala1028=) | |
| 8 | g.41933709G>T | CA371065668 | KAT6A | c.4511C>A (p.Ala1504Asp) c.4517C>A (p.Ala1506Asp) c.3192C>A c.4643C>A (p.Ala1548Asp) c.4622C>A (p.Ala1541Asp) c.4529C>A (p.Ala1510Asp) c.3083C>A (p.Ala1028Asp) | |
| 8 | g.41933710C>A | CA371065669 | KAT6A | c.4510G>T (p.Ala1504Ser) c.4516G>T (p.Ala1506Ser) c.3191G>T c.4642G>T (p.Ala1548Ser) c.4621G>T (p.Ala1541Ser) c.4528G>T (p.Ala1510Ser) c.3082G>T (p.Ala1028Ser) | |
| 8 | g.41933710C= | CA1779196028 | KAT6A | c.4510G= (p.Ala1504=) c.4516G= (p.Ala1506=) c.3191G= c.4642G= (p.Ala1548=) c.4621G= (p.Ala1541=) c.4528G= (p.Ala1510=) c.3082G= (p.Ala1028=) | |
| 8 | g.41933710C>G | CA371065670 | KAT6A | c.4510G>C (p.Ala1504Pro) c.4516G>C (p.Ala1506Pro) c.3191G>C c.4642G>C (p.Ala1548Pro) c.4621G>C (p.Ala1541Pro) c.4528G>C (p.Ala1510Pro) c.3082G>C (p.Ala1028Pro) | dbSNP |
| 8 | g.41933710C>T | CA371065671 | KAT6A | c.4510G>A (p.Ala1504Thr) c.4516G>A (p.Ala1506Thr) c.3191G>A c.4642G>A (p.Ala1548Thr) c.4621G>A (p.Ala1541Thr) c.4528G>A (p.Ala1510Thr) c.3082G>A (p.Ala1028Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933711A>C | CA460783738 | KAT6A | c.4509T>G (p.Pro1503=) c.4515T>G (p.Pro1505=) c.3190T>G c.4641T>G (p.Pro1547=) c.4620T>G (p.Pro1540=) c.4527T>G (p.Pro1509=) c.3081T>G (p.Pro1027=) | |
| 8 | g.41933711A>G | CA460783741 | KAT6A | c.4509T>C (p.Pro1503=) c.4515T>C (p.Pro1505=) c.3190T>C c.4641T>C (p.Pro1547=) c.4620T>C (p.Pro1540=) c.4527T>C (p.Pro1509=) c.3081T>C (p.Pro1027=) | gnomAD v4 |
| 8 | g.41933711A>T | CA460783742 | KAT6A | c.4509T>A (p.Pro1503=) c.4515T>A (p.Pro1505=) c.3190T>A c.4641T>A (p.Pro1547=) c.4620T>A (p.Pro1540=) c.4527T>A (p.Pro1509=) c.3081T>A (p.Pro1027=) | |
| 8 | g.41933712G>A | CA371065672 | KAT6A | c.4508C>T (p.Pro1503Leu) c.4514C>T (p.Pro1505Leu) c.3189C>T c.4640C>T (p.Pro1547Leu) c.4619C>T (p.Pro1540Leu) c.4526C>T (p.Pro1509Leu) c.3080C>T (p.Pro1027Leu) | |
| 8 | g.41933712G>C | CA371065673 | KAT6A | c.4508C>G (p.Pro1503Arg) c.4514C>G (p.Pro1505Arg) c.3189C>G c.4640C>G (p.Pro1547Arg) c.4619C>G (p.Pro1540Arg) c.4526C>G (p.Pro1509Arg) c.3080C>G (p.Pro1027Arg) | |
| 8 | g.41933712G>T | CA371065674 | KAT6A | c.4508C>A (p.Pro1503His) c.4514C>A (p.Pro1505His) c.3189C>A c.4640C>A (p.Pro1547His) c.4619C>A (p.Pro1540His) c.4526C>A (p.Pro1509His) c.3080C>A (p.Pro1027His) | |
| 8 | g.41933713G>A | CA4729463 | KAT6A | c.4507C>T (p.Pro1503Ser) c.4513C>T (p.Pro1505Ser) c.3188C>T c.4639C>T (p.Pro1547Ser) c.4618C>T (p.Pro1540Ser) c.4525C>T (p.Pro1509Ser) c.3079C>T (p.Pro1027Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933713G>C | CA371065676 | KAT6A | c.4507C>G (p.Pro1503Ala) c.4513C>G (p.Pro1505Ala) c.3188C>G c.4639C>G (p.Pro1547Ala) c.4618C>G (p.Pro1540Ala) c.4525C>G (p.Pro1509Ala) c.3079C>G (p.Pro1027Ala) | |
| 8 | g.41933713G= | CA1779196029 | KAT6A | c.4507C= (p.Pro1503=) c.4513C= (p.Pro1505=) c.3188C= c.4639C= (p.Pro1547=) c.4618C= (p.Pro1540=) c.4525C= (p.Pro1509=) c.3079C= (p.Pro1027=) | |
| 8 | g.41933713G>T | CA371065675 | KAT6A | c.4507C>A (p.Pro1503Thr) c.4513C>A (p.Pro1505Thr) c.3188C>A c.4639C>A (p.Pro1547Thr) c.4618C>A (p.Pro1540Thr) c.4525C>A (p.Pro1509Thr) c.3079C>A (p.Pro1027Thr) | |
| 8 | g.41933714C>A | CA460783750 | KAT6A | c.4506G>T (p.Val1502=) c.4512G>T (p.Val1504=) c.3187G>T c.4638G>T (p.Val1546=) c.4617G>T (p.Val1539=) c.4524G>T (p.Val1508=) c.3078G>T (p.Val1026=) | gnomAD v4 |
| 8 | g.41933714C>G | CA460783751 | KAT6A | c.4506G>C (p.Val1502=) c.4512G>C (p.Val1504=) c.3187G>C c.4638G>C (p.Val1546=) c.4617G>C (p.Val1539=) c.4524G>C (p.Val1508=) c.3078G>C (p.Val1026=) | |
| 8 | g.41933714C>T | CA460783752 | KAT6A | c.4506G>A (p.Val1502=) c.4512G>A (p.Val1504=) c.3187G>A c.4638G>A (p.Val1546=) c.4617G>A (p.Val1539=) c.4524G>A (p.Val1508=) c.3078G>A (p.Val1026=) | |
| 8 | g.41933715A>C | CA371065677 | KAT6A | c.4505T>G (p.Val1502Gly) c.4511T>G (p.Val1504Gly) c.3186T>G c.4637T>G (p.Val1546Gly) c.4616T>G (p.Val1539Gly) c.4523T>G (p.Val1508Gly) c.3077T>G (p.Val1026Gly) | |
| 8 | g.41933715A>G | CA371065678 | KAT6A | c.4505T>C (p.Val1502Ala) c.4511T>C (p.Val1504Ala) c.3186T>C c.4637T>C (p.Val1546Ala) c.4616T>C (p.Val1539Ala) c.4523T>C (p.Val1508Ala) c.3077T>C (p.Val1026Ala) | |
| 8 | g.41933715A>T | CA371065679 | KAT6A | c.4505T>A (p.Val1502Glu) c.4511T>A (p.Val1504Glu) c.3186T>A c.4637T>A (p.Val1546Glu) c.4616T>A (p.Val1539Glu) c.4523T>A (p.Val1508Glu) c.3077T>A (p.Val1026Glu) | |
| 8 | g.41933716C>A | CA175939289 | KAT6A | c.4504G>T (p.Val1502Leu) c.4510G>T (p.Val1504Leu) c.3185G>T c.4636G>T (p.Val1546Leu) c.4615G>T (p.Val1539Leu) c.4522G>T (p.Val1508Leu) c.3076G>T (p.Val1026Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933716C= | CA1779196030 | KAT6A | c.4504G= (p.Val1502=) c.4510G= (p.Val1504=) c.3185G= c.4636G= (p.Val1546=) c.4615G= (p.Val1539=) c.4522G= (p.Val1508=) c.3076G= (p.Val1026=) | |
| 8 | g.41933716C>G | CA371065680 | KAT6A | c.4504G>C (p.Val1502Leu) c.4510G>C (p.Val1504Leu) c.3185G>C c.4636G>C (p.Val1546Leu) c.4615G>C (p.Val1539Leu) c.4522G>C (p.Val1508Leu) c.3076G>C (p.Val1026Leu) | ClinVar |
| 8 | g.41933716C>T | CA4729464 | KAT6A | c.4504G>A (p.Val1502Met) c.4510G>A (p.Val1504Met) c.3185G>A c.4636G>A (p.Val1546Met) c.4615G>A (p.Val1539Met) c.4522G>A (p.Val1508Met) c.3076G>A (p.Val1026Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933717G>A | CA175939290 | KAT6A | c.4503C>T (p.Asn1501=) c.4509C>T (p.Asn1503=) c.3184C>T c.4635C>T (p.Asn1545=) c.4614C>T (p.Asn1538=) c.4521C>T (p.Asn1507=) c.3075C>T (p.Asn1025=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933717G>C | CA371065682 | KAT6A | c.4503C>G (p.Asn1501Lys) c.4509C>G (p.Asn1503Lys) c.3184C>G c.4635C>G (p.Asn1545Lys) c.4614C>G (p.Asn1538Lys) c.4521C>G (p.Asn1507Lys) c.3075C>G (p.Asn1025Lys) | |
| 8 | g.41933717G= | CA1779196031 | KAT6A | c.4503C= (p.Asn1501=) c.4509C= (p.Asn1503=) c.3184C= c.4635C= (p.Asn1545=) c.4614C= (p.Asn1538=) c.4521C= (p.Asn1507=) c.3075C= (p.Asn1025=) | |
| 8 | g.41933717G>T | CA371065681 | KAT6A | c.4503C>A (p.Asn1501Lys) c.4509C>A (p.Asn1503Lys) c.3184C>A c.4635C>A (p.Asn1545Lys) c.4614C>A (p.Asn1538Lys) c.4521C>A (p.Asn1507Lys) c.3075C>A (p.Asn1025Lys) | dbSNP |
| 8 | g.41933718T>A | CA4729466 | KAT6A | c.4502A>T (p.Asn1501Ile) c.4508A>T (p.Asn1503Ile) c.3183A>T c.4634A>T (p.Asn1545Ile) c.4613A>T (p.Asn1538Ile) c.4520A>T (p.Asn1507Ile) c.3074A>T (p.Asn1025Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933718T>C | CA4729465 | KAT6A | c.4502A>G (p.Asn1501Ser) c.4508A>G (p.Asn1503Ser) c.3183A>G c.4634A>G (p.Asn1545Ser) c.4613A>G (p.Asn1538Ser) c.4520A>G (p.Asn1507Ser) c.3074A>G (p.Asn1025Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933718T>G | CA371065683 | KAT6A | c.4502A>C (p.Asn1501Thr) c.4508A>C (p.Asn1503Thr) c.3183A>C c.4634A>C (p.Asn1545Thr) c.4613A>C (p.Asn1538Thr) c.4520A>C (p.Asn1507Thr) c.3074A>C (p.Asn1025Thr) | |
| 8 | g.41933718T= | CA1779196032 | KAT6A | c.4502A= (p.Asn1501=) c.4508A= (p.Asn1503=) c.3183A= c.4634A= (p.Asn1545=) c.4613A= (p.Asn1538=) c.4520A= (p.Asn1507=) c.3074A= (p.Asn1025=) | |
| 8 | g.41933719dup | CA2695209101 | KAT6A | c.4502dup (p.Asn1501LysfsTer6) c.4508dup (p.Asn1503LysfsTer6) c.3183dup c.4634dup (p.Asn1545LysfsTer6) c.4613dup (p.Asn1538LysfsTer6) c.4520dup (p.Asn1507LysfsTer6) c.3074dup (p.Asn1025LysfsTer6) | |
| 8 | g.41933719T>A | CA371065684 | KAT6A | c.4501A>T (p.Asn1501Tyr) c.4507A>T (p.Asn1503Tyr) c.3182A>T c.4633A>T (p.Asn1545Tyr) c.4612A>T (p.Asn1538Tyr) c.4519A>T (p.Asn1507Tyr) c.3073A>T (p.Asn1025Tyr) | |
| 8 | g.41933719T>C | CA371065685 | KAT6A | c.4501A>G (p.Asn1501Asp) c.4507A>G (p.Asn1503Asp) c.3182A>G c.4633A>G (p.Asn1545Asp) c.4612A>G (p.Asn1538Asp) c.4519A>G (p.Asn1507Asp) c.3073A>G (p.Asn1025Asp) | |
| 8 | g.41933719T>G | CA371065686 | KAT6A | c.4501A>C (p.Asn1501His) c.4507A>C (p.Asn1503His) c.3182A>C c.4633A>C (p.Asn1545His) c.4612A>C (p.Asn1538His) c.4519A>C (p.Asn1507His) c.3073A>C (p.Asn1025His) | |
| 8 | g.41933720G>A | CA175939291 | KAT6A | c.4500C>T (p.Pro1500=) c.4506C>T (p.Pro1502=) c.3181C>T c.4632C>T (p.Pro1544=) c.4611C>T (p.Pro1537=) c.4518C>T (p.Pro1506=) c.3072C>T (p.Pro1024=) | dbSNP gnomAD v4 |
| 8 | g.41933720G>C | CA460783764 | KAT6A | c.4500C>G (p.Pro1500=) c.4506C>G (p.Pro1502=) c.3181C>G c.4632C>G (p.Pro1544=) c.4611C>G (p.Pro1537=) c.4518C>G (p.Pro1506=) c.3072C>G (p.Pro1024=) | |
| 8 | g.41933720G= | CA1779196033 | KAT6A | c.4500C= (p.Pro1500=) c.4506C= (p.Pro1502=) c.3181C= c.4632C= (p.Pro1544=) c.4611C= (p.Pro1537=) c.4518C= (p.Pro1506=) c.3072C= (p.Pro1024=) | |
| 8 | g.41933720G>T | CA460783765 | KAT6A | c.4500C>A (p.Pro1500=) c.4506C>A (p.Pro1502=) c.3181C>A c.4632C>A (p.Pro1544=) c.4611C>A (p.Pro1537=) c.4518C>A (p.Pro1506=) c.3072C>A (p.Pro1024=) | |
| 8 | g.41933721G>A | CA371065687 | KAT6A | c.4499C>T (p.Pro1500Leu) c.4505C>T (p.Pro1502Leu) c.3180C>T c.4631C>T (p.Pro1544Leu) c.4610C>T (p.Pro1537Leu) c.4517C>T (p.Pro1506Leu) c.3071C>T (p.Pro1024Leu) | dbSNP gnomAD v2 COSMIC |
| 8 | g.41933721G>C | CA371065689 | KAT6A | c.4499C>G (p.Pro1500Arg) c.4505C>G (p.Pro1502Arg) c.3180C>G c.4631C>G (p.Pro1544Arg) c.4610C>G (p.Pro1537Arg) c.4517C>G (p.Pro1506Arg) c.3071C>G (p.Pro1024Arg) | |
| 8 | g.41933721G= | CA1779196034 | KAT6A | c.4499C= (p.Pro1500=) c.4505C= (p.Pro1502=) c.3180C= c.4631C= (p.Pro1544=) c.4610C= (p.Pro1537=) c.4517C= (p.Pro1506=) c.3071C= (p.Pro1024=) | |
| 8 | g.41933721G>T | CA371065688 | KAT6A | c.4499C>A (p.Pro1500His) c.4505C>A (p.Pro1502His) c.3180C>A c.4631C>A (p.Pro1544His) c.4610C>A (p.Pro1537His) c.4517C>A (p.Pro1506His) c.3071C>A (p.Pro1024His) | |
| 8 | g.41933722G>A | CA371065690 | KAT6A | c.4498C>T (p.Pro1500Ser) c.4504C>T (p.Pro1502Ser) c.3179C>T c.4630C>T (p.Pro1544Ser) c.4609C>T (p.Pro1537Ser) c.4516C>T (p.Pro1506Ser) c.3070C>T (p.Pro1024Ser) | |
| 8 | g.41933722G>C | CA371065691 | KAT6A | c.4498C>G (p.Pro1500Ala) c.4504C>G (p.Pro1502Ala) c.3179C>G c.4630C>G (p.Pro1544Ala) c.4609C>G (p.Pro1537Ala) c.4516C>G (p.Pro1506Ala) c.3070C>G (p.Pro1024Ala) | |
| 8 | g.41933722G>T | CA371065692 | KAT6A | c.4498C>A (p.Pro1500Thr) c.4504C>A (p.Pro1502Thr) c.3179C>A c.4630C>A (p.Pro1544Thr) c.4609C>A (p.Pro1537Thr) c.4516C>A (p.Pro1506Thr) c.3070C>A (p.Pro1024Thr) | |
| 8 | g.41933723A= | CA1779196035 | KAT6A | c.4497T= (p.Ser1499=) c.4503T= (p.Ser1501=) c.3178T= c.4629T= (p.Ser1543=) c.4608T= (p.Ser1536=) c.4515T= (p.Ser1505=) c.3069T= (p.Ser1023=) | |
| 8 | g.41933723A>C | CA371065693 | KAT6A | c.4497T>G (p.Ser1499Arg) c.4503T>G (p.Ser1501Arg) c.3178T>G c.4629T>G (p.Ser1543Arg) c.4608T>G (p.Ser1536Arg) c.4515T>G (p.Ser1505Arg) c.3069T>G (p.Ser1023Arg) | |
| 8 | g.41933723A>G | CA460783771 | KAT6A | c.4497T>C (p.Ser1499=) c.4503T>C (p.Ser1501=) c.3178T>C c.4629T>C (p.Ser1543=) c.4608T>C (p.Ser1536=) c.4515T>C (p.Ser1505=) c.3069T>C (p.Ser1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933723A>T | CA371065694 | KAT6A | c.4497T>A (p.Ser1499Arg) c.4503T>A (p.Ser1501Arg) c.3178T>A c.4629T>A (p.Ser1543Arg) c.4608T>A (p.Ser1536Arg) c.4515T>A (p.Ser1505Arg) c.3069T>A (p.Ser1023Arg) | |
| 8 | g.41933724C>A | CA371065695 | KAT6A | c.4496G>T (p.Ser1499Ile) c.4502G>T (p.Ser1501Ile) c.3177G>T c.4628G>T (p.Ser1543Ile) c.4607G>T (p.Ser1536Ile) c.4514G>T (p.Ser1505Ile) c.3068G>T (p.Ser1023Ile) | |
| 8 | g.41933724C>G | CA371065696 | KAT6A | c.4496G>C (p.Ser1499Thr) c.4502G>C (p.Ser1501Thr) c.3177G>C c.4628G>C (p.Ser1543Thr) c.4607G>C (p.Ser1536Thr) c.4514G>C (p.Ser1505Thr) c.3068G>C (p.Ser1023Thr) | |
| 8 | g.41933724C>T | CA371065697 | KAT6A | c.4496G>A (p.Ser1499Asn) c.4502G>A (p.Ser1501Asn) c.3177G>A c.4628G>A (p.Ser1543Asn) c.4607G>A (p.Ser1536Asn) c.4514G>A (p.Ser1505Asn) c.3068G>A (p.Ser1023Asn) | dbSNP |
| 8 | g.41933725T>A | CA371065698 | KAT6A | c.4495A>T (p.Ser1499Cys) c.4501A>T (p.Ser1501Cys) c.3176A>T c.4627A>T (p.Ser1543Cys) c.4606A>T (p.Ser1536Cys) c.4513A>T (p.Ser1505Cys) c.3067A>T (p.Ser1023Cys) | |
| 8 | g.41933725T>C | CA371065699 | KAT6A | c.4495A>G (p.Ser1499Gly) c.4501A>G (p.Ser1501Gly) c.3176A>G c.4627A>G (p.Ser1543Gly) c.4606A>G (p.Ser1536Gly) c.4513A>G (p.Ser1505Gly) c.3067A>G (p.Ser1023Gly) | |
| 8 | g.41933725T>G | CA371065700 | KAT6A | c.4495A>C (p.Ser1499Arg) c.4501A>C (p.Ser1501Arg) c.3176A>C c.4627A>C (p.Ser1543Arg) c.4606A>C (p.Ser1536Arg) c.4513A>C (p.Ser1505Arg) c.3067A>C (p.Ser1023Arg) | |
| 8 | g.41933726G>A | CA460783780 | KAT6A | c.4494C>T (p.Ser1498=) c.4500C>T (p.Ser1500=) c.3175C>T c.4626C>T (p.Ser1542=) c.4605C>T (p.Ser1535=) c.4512C>T (p.Ser1504=) c.3066C>T (p.Ser1022=) | |
| 8 | g.41933726G>C | CA371065701 | KAT6A | c.4494C>G (p.Ser1498Arg) c.4500C>G (p.Ser1500Arg) c.3175C>G c.4626C>G (p.Ser1542Arg) c.4605C>G (p.Ser1535Arg) c.4512C>G (p.Ser1504Arg) c.3066C>G (p.Ser1022Arg) | |
| 8 | g.41933726G>T | CA371065702 | KAT6A | c.4494C>A (p.Ser1498Arg) c.4500C>A (p.Ser1500Arg) c.3175C>A c.4626C>A (p.Ser1542Arg) c.4605C>A (p.Ser1535Arg) c.4512C>A (p.Ser1504Arg) c.3066C>A (p.Ser1022Arg) | |
| 8 | g.41933727C>A | CA371065703 | KAT6A | c.4493G>T (p.Ser1498Ile) c.4499G>T (p.Ser1500Ile) c.3174G>T c.4625G>T (p.Ser1542Ile) c.4604G>T (p.Ser1535Ile) c.4511G>T (p.Ser1504Ile) c.3065G>T (p.Ser1022Ile) | |
| 8 | g.41933727C>G | CA371065705 | KAT6A | c.4493G>C (p.Ser1498Thr) c.4499G>C (p.Ser1500Thr) c.3174G>C c.4625G>C (p.Ser1542Thr) c.4604G>C (p.Ser1535Thr) c.4511G>C (p.Ser1504Thr) c.3065G>C (p.Ser1022Thr) | |
| 8 | g.41933727C>T | CA371065704 | KAT6A | c.4493G>A (p.Ser1498Asn) c.4499G>A (p.Ser1500Asn) c.3174G>A c.4625G>A (p.Ser1542Asn) c.4604G>A (p.Ser1535Asn) c.4511G>A (p.Ser1504Asn) c.3065G>A (p.Ser1022Asn) | |
| 8 | g.41933728T>A | CA371065706 | KAT6A | c.4492A>T (p.Ser1498Cys) c.4498A>T (p.Ser1500Cys) c.3173A>T c.4624A>T (p.Ser1542Cys) c.4603A>T (p.Ser1535Cys) c.4510A>T (p.Ser1504Cys) c.3064A>T (p.Ser1022Cys) | |
| 8 | g.41933728T>C | CA371065707 | KAT6A | c.4492A>G (p.Ser1498Gly) c.4498A>G (p.Ser1500Gly) c.3173A>G c.4624A>G (p.Ser1542Gly) c.4603A>G (p.Ser1535Gly) c.4510A>G (p.Ser1504Gly) c.3064A>G (p.Ser1022Gly) | gnomAD v4 |
| 8 | g.41933728T>G | CA371065708 | KAT6A | c.4492A>C (p.Ser1498Arg) c.4498A>C (p.Ser1500Arg) c.3173A>C c.4624A>C (p.Ser1542Arg) c.4603A>C (p.Ser1535Arg) c.4510A>C (p.Ser1504Arg) c.3064A>C (p.Ser1022Arg) | |
| 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 |