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.41933769_41933771del | CA2687076952 | KAT6A | c.4453_4455del (p.Ser1485del) c.4459_4461del (p.Ser1487del) c.3134_3136del c.4585_4587del (p.Ser1529del) c.4564_4566del (p.Ser1522del) c.4471_4473del (p.Ser1491del) c.3025_3027del (p.Ser1009del) | gnomAD v4 |
| 8 | g.41933769G>A | CA4729483 | KAT6A | c.4451C>T (p.Ser1484Phe) c.4457C>T (p.Ser1486Phe) c.3132C>T c.4583C>T (p.Ser1528Phe) c.4562C>T (p.Ser1521Phe) c.4469C>T (p.Ser1490Phe) c.3023C>T (p.Ser1008Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933769G>C | CA371065783 | KAT6A | c.4451C>G (p.Ser1484Cys) c.4457C>G (p.Ser1486Cys) c.3132C>G c.4583C>G (p.Ser1528Cys) c.4562C>G (p.Ser1521Cys) c.4469C>G (p.Ser1490Cys) c.3023C>G (p.Ser1008Cys) | gnomAD v4 |
| 8 | g.41933769G= | CA1779196057 | KAT6A | c.4451C= (p.Ser1484=) c.4457C= (p.Ser1486=) c.3132C= c.4583C= (p.Ser1528=) c.4562C= (p.Ser1521=) c.4469C= (p.Ser1490=) c.3023C= (p.Ser1008=) | |
| 8 | g.41933769G>T | CA371065784 | KAT6A | c.4451C>A (p.Ser1484Tyr) c.4457C>A (p.Ser1486Tyr) c.3132C>A c.4583C>A (p.Ser1528Tyr) c.4562C>A (p.Ser1521Tyr) c.4469C>A (p.Ser1490Tyr) c.3023C>A (p.Ser1008Tyr) | |
| 8 | g.41933770A= | CA1779196058 | KAT6A | c.4450T= (p.Ser1484=) c.4456T= (p.Ser1486=) c.3131T= c.4582T= (p.Ser1528=) c.4561T= (p.Ser1521=) c.4468T= (p.Ser1490=) c.3022T= (p.Ser1008=) | |
| 8 | g.41933770A>C | CA371065785 | KAT6A | c.4450T>G (p.Ser1484Ala) c.4456T>G (p.Ser1486Ala) c.3131T>G c.4582T>G (p.Ser1528Ala) c.4561T>G (p.Ser1521Ala) c.4468T>G (p.Ser1490Ala) c.3022T>G (p.Ser1008Ala) | |
| 8 | g.41933770A>G | CA371065786 | KAT6A | c.4450T>C (p.Ser1484Pro) c.4456T>C (p.Ser1486Pro) c.3131T>C c.4582T>C (p.Ser1528Pro) c.4561T>C (p.Ser1521Pro) c.4468T>C (p.Ser1490Pro) c.3022T>C (p.Ser1008Pro) | dbSNP |
| 8 | g.41933770A>T | CA371065787 | KAT6A | c.4450T>A (p.Ser1484Thr) c.4456T>A (p.Ser1486Thr) c.3131T>A c.4582T>A (p.Ser1528Thr) c.4561T>A (p.Ser1521Thr) c.4468T>A (p.Ser1490Thr) c.3022T>A (p.Ser1008Thr) | |
| 8 | g.41933771G>A | CA460783292 | KAT6A | c.4449C>T (p.Ile1483=) c.4455C>T (p.Ile1485=) c.3130C>T c.4581C>T (p.Ile1527=) c.4560C>T (p.Ile1520=) c.4467C>T (p.Ile1489=) c.3021C>T (p.Ile1007=) | |
| 8 | g.41933771G>C | CA371065788 | KAT6A | c.4449C>G (p.Ile1483Met) c.4455C>G (p.Ile1485Met) c.3130C>G c.4581C>G (p.Ile1527Met) c.4560C>G (p.Ile1520Met) c.4467C>G (p.Ile1489Met) c.3021C>G (p.Ile1007Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933771G= | CA1779196059 | KAT6A | c.4449C= (p.Ile1483=) c.4455C= (p.Ile1485=) c.3130C= c.4581C= (p.Ile1527=) c.4560C= (p.Ile1520=) c.4467C= (p.Ile1489=) c.3021C= (p.Ile1007=) | |
| 8 | g.41933771G>T | CA460783289 | KAT6A | c.4449C>A (p.Ile1483=) c.4455C>A (p.Ile1485=) c.3130C>A c.4581C>A (p.Ile1527=) c.4560C>A (p.Ile1520=) c.4467C>A (p.Ile1489=) c.3021C>A (p.Ile1007=) | gnomAD v4 |
| 8 | g.41933772A>C | CA371065789 | KAT6A | c.4448T>G (p.Ile1483Ser) c.4454T>G (p.Ile1485Ser) c.3129T>G c.4580T>G (p.Ile1527Ser) c.4559T>G (p.Ile1520Ser) c.4466T>G (p.Ile1489Ser) c.3020T>G (p.Ile1007Ser) | |
| 8 | g.41933772A>G | CA371065790 | KAT6A | c.4448T>C (p.Ile1483Thr) c.4454T>C (p.Ile1485Thr) c.3129T>C c.4580T>C (p.Ile1527Thr) c.4559T>C (p.Ile1520Thr) c.4466T>C (p.Ile1489Thr) c.3020T>C (p.Ile1007Thr) | |
| 8 | g.41933772A>T | CA371065791 | KAT6A | c.4448T>A (p.Ile1483Asn) c.4454T>A (p.Ile1485Asn) c.3129T>A c.4580T>A (p.Ile1527Asn) c.4559T>A (p.Ile1520Asn) c.4466T>A (p.Ile1489Asn) c.3020T>A (p.Ile1007Asn) | |
| 8 | g.41933773T>A | CA371065792 | KAT6A | c.4447A>T (p.Ile1483Phe) c.4453A>T (p.Ile1485Phe) c.3128A>T c.4579A>T (p.Ile1527Phe) c.4558A>T (p.Ile1520Phe) c.4465A>T (p.Ile1489Phe) c.3019A>T (p.Ile1007Phe) | |
| 8 | g.41933773T>C | CA4729484 | KAT6A | c.4447A>G (p.Ile1483Val) c.4453A>G (p.Ile1485Val) c.3128A>G c.4579A>G (p.Ile1527Val) c.4558A>G (p.Ile1520Val) c.4465A>G (p.Ile1489Val) c.3019A>G (p.Ile1007Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933773T>G | CA371065793 | KAT6A | c.4447A>C (p.Ile1483Leu) c.4453A>C (p.Ile1485Leu) c.3128A>C c.4579A>C (p.Ile1527Leu) c.4558A>C (p.Ile1520Leu) c.4465A>C (p.Ile1489Leu) c.3019A>C (p.Ile1007Leu) | |
| 8 | g.41933773T= | CA1779196060 | KAT6A | c.4447A= (p.Ile1483=) c.4453A= (p.Ile1485=) c.3128A= c.4579A= (p.Ile1527=) c.4558A= (p.Ile1520=) c.4465A= (p.Ile1489=) c.3019A= (p.Ile1007=) | |
| 8 | g.41933774A= | CA1779196061 | KAT6A | c.4446T= (p.Pro1482=) c.4452T= (p.Pro1484=) c.3127T= c.4578T= (p.Pro1526=) c.4557T= (p.Pro1519=) c.4464T= (p.Pro1488=) c.3018T= (p.Pro1006=) | |
| 8 | g.41933774A>C | CA460783295 | KAT6A | c.4446T>G (p.Pro1482=) c.4452T>G (p.Pro1484=) c.3127T>G c.4578T>G (p.Pro1526=) c.4557T>G (p.Pro1519=) c.4464T>G (p.Pro1488=) c.3018T>G (p.Pro1006=) | |
| 8 | g.41933774A>G | CA175939384 | KAT6A | c.4446T>C (p.Pro1482=) c.4452T>C (p.Pro1484=) c.3127T>C c.4578T>C (p.Pro1526=) c.4557T>C (p.Pro1519=) c.4464T>C (p.Pro1488=) c.3018T>C (p.Pro1006=) | dbSNP gnomAD v4 |
| 8 | g.41933774A>T | CA460783297 | KAT6A | c.4446T>A (p.Pro1482=) c.4452T>A (p.Pro1484=) c.3127T>A c.4578T>A (p.Pro1526=) c.4557T>A (p.Pro1519=) c.4464T>A (p.Pro1488=) c.3018T>A (p.Pro1006=) | |
| 8 | g.41933775G>A | CA371065796 | KAT6A | c.4445C>T (p.Pro1482Leu) c.4451C>T (p.Pro1484Leu) c.3126C>T c.4577C>T (p.Pro1526Leu) c.4556C>T (p.Pro1519Leu) c.4463C>T (p.Pro1488Leu) c.3017C>T (p.Pro1006Leu) | ClinVar dbSNP |
| 8 | g.41933775G>C | CA371065794 | KAT6A | c.4445C>G (p.Pro1482Arg) c.4451C>G (p.Pro1484Arg) c.3126C>G c.4577C>G (p.Pro1526Arg) c.4556C>G (p.Pro1519Arg) c.4463C>G (p.Pro1488Arg) c.3017C>G (p.Pro1006Arg) | |
| 8 | g.41933775G= | CA1779196062 | KAT6A | c.4445C= (p.Pro1482=) c.4451C= (p.Pro1484=) c.3126C= c.4577C= (p.Pro1526=) c.4556C= (p.Pro1519=) c.4463C= (p.Pro1488=) c.3017C= (p.Pro1006=) | |
| 8 | g.41933775G>T | CA371065795 | KAT6A | c.4445C>A (p.Pro1482His) c.4451C>A (p.Pro1484His) c.3126C>A c.4577C>A (p.Pro1526His) c.4556C>A (p.Pro1519His) c.4463C>A (p.Pro1488His) c.3017C>A (p.Pro1006His) | |
| 8 | g.41933776G>A | CA4729485 | KAT6A | c.4444C>T (p.Pro1482Ser) c.4450C>T (p.Pro1484Ser) c.3125C>T c.4576C>T (p.Pro1526Ser) c.4555C>T (p.Pro1519Ser) c.4462C>T (p.Pro1488Ser) c.3016C>T (p.Pro1006Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933776G>C | CA371065797 | KAT6A | c.4444C>G (p.Pro1482Ala) c.4450C>G (p.Pro1484Ala) c.3125C>G c.4576C>G (p.Pro1526Ala) c.4555C>G (p.Pro1519Ala) c.4462C>G (p.Pro1488Ala) c.3016C>G (p.Pro1006Ala) | |
| 8 | g.41933776G= | CA1779196063 | KAT6A | c.4444C= (p.Pro1482=) c.4450C= (p.Pro1484=) c.3125C= c.4576C= (p.Pro1526=) c.4555C= (p.Pro1519=) c.4462C= (p.Pro1488=) c.3016C= (p.Pro1006=) | |
| 8 | g.41933776G>T | CA371065798 | KAT6A | c.4444C>A (p.Pro1482Thr) c.4450C>A (p.Pro1484Thr) c.3125C>A c.4576C>A (p.Pro1526Thr) c.4555C>A (p.Pro1519Thr) c.4462C>A (p.Pro1488Thr) c.3016C>A (p.Pro1006Thr) | |
| 8 | g.41933777G>A | CA4729486 | KAT6A | c.4443C>T (p.Ser1481=) c.4449C>T (p.Ser1483=) c.3124C>T c.4575C>T (p.Ser1525=) c.4554C>T (p.Ser1518=) c.4461C>T (p.Ser1487=) c.3015C>T (p.Ser1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933777G>C | CA371065799 | KAT6A | c.4443C>G (p.Ser1481Arg) c.4449C>G (p.Ser1483Arg) c.3124C>G c.4575C>G (p.Ser1525Arg) c.4554C>G (p.Ser1518Arg) c.4461C>G (p.Ser1487Arg) c.3015C>G (p.Ser1005Arg) | |
| 8 | g.41933777G= | CA1779196064 | KAT6A | c.4443C= (p.Ser1481=) c.4449C= (p.Ser1483=) c.3124C= c.4575C= (p.Ser1525=) c.4554C= (p.Ser1518=) c.4461C= (p.Ser1487=) c.3015C= (p.Ser1005=) | |
| 8 | g.41933777G>T | CA175939385 | KAT6A | c.4443C>A (p.Ser1481Arg) c.4449C>A (p.Ser1483Arg) c.3124C>A c.4575C>A (p.Ser1525Arg) c.4554C>A (p.Ser1518Arg) c.4461C>A (p.Ser1487Arg) c.3015C>A (p.Ser1005Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933778C>A | CA4729487 | KAT6A | c.4442G>T (p.Ser1481Ile) c.4448G>T (p.Ser1483Ile) c.3123G>T c.4574G>T (p.Ser1525Ile) c.4553G>T (p.Ser1518Ile) c.4460G>T (p.Ser1487Ile) c.3014G>T (p.Ser1005Ile) | dbSNP ExAC gnomAD v2 |
| 8 | g.41933778C= | CA1779196065 | KAT6A | c.4442G= (p.Ser1481=) c.4448G= (p.Ser1483=) c.3123G= c.4574G= (p.Ser1525=) c.4553G= (p.Ser1518=) c.4460G= (p.Ser1487=) c.3014G= (p.Ser1005=) | |
| 8 | g.41933778C>G | CA371065800 | KAT6A | c.4442G>C (p.Ser1481Thr) c.4448G>C (p.Ser1483Thr) c.3123G>C c.4574G>C (p.Ser1525Thr) c.4553G>C (p.Ser1518Thr) c.4460G>C (p.Ser1487Thr) c.3014G>C (p.Ser1005Thr) | |
| 8 | g.41933778C>T | CA371065801 | KAT6A | c.4442G>A (p.Ser1481Asn) c.4448G>A (p.Ser1483Asn) c.3123G>A c.4574G>A (p.Ser1525Asn) c.4553G>A (p.Ser1518Asn) c.4460G>A (p.Ser1487Asn) c.3014G>A (p.Ser1005Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933779T>A | CA371065802 | KAT6A | c.4441A>T (p.Ser1481Cys) c.4447A>T (p.Ser1483Cys) c.3122A>T c.4573A>T (p.Ser1525Cys) c.4552A>T (p.Ser1518Cys) c.4459A>T (p.Ser1487Cys) c.3013A>T (p.Ser1005Cys) | |
| 8 | g.41933779T>C | CA371065803 | KAT6A | c.4441A>G (p.Ser1481Gly) c.4447A>G (p.Ser1483Gly) c.3122A>G c.4573A>G (p.Ser1525Gly) c.4552A>G (p.Ser1518Gly) c.4459A>G (p.Ser1487Gly) c.3013A>G (p.Ser1005Gly) | |
| 8 | g.41933779T>G | CA371065804 | KAT6A | c.4441A>C (p.Ser1481Arg) c.4447A>C (p.Ser1483Arg) c.3122A>C c.4573A>C (p.Ser1525Arg) c.4552A>C (p.Ser1518Arg) c.4459A>C (p.Ser1487Arg) c.3013A>C (p.Ser1005Arg) | |
| 8 | g.41933780A>C | CA371065805 | KAT6A | c.4440T>G (p.Asn1480Lys) c.4446T>G (p.Asn1482Lys) c.3121T>G c.4572T>G (p.Asn1524Lys) c.4551T>G (p.Asn1517Lys) c.4458T>G (p.Asn1486Lys) c.3012T>G (p.Asn1004Lys) | |
| 8 | g.41933780A>G | CA460783304 | KAT6A | c.4440T>C (p.Asn1480=) c.4446T>C (p.Asn1482=) c.3121T>C c.4572T>C (p.Asn1524=) c.4551T>C (p.Asn1517=) c.4458T>C (p.Asn1486=) c.3012T>C (p.Asn1004=) | |
| 8 | g.41933780A>T | CA371065806 | KAT6A | c.4440T>A (p.Asn1480Lys) c.4446T>A (p.Asn1482Lys) c.3121T>A c.4572T>A (p.Asn1524Lys) c.4551T>A (p.Asn1517Lys) c.4458T>A (p.Asn1486Lys) c.3012T>A (p.Asn1004Lys) | |
| 8 | g.41933781T>A | CA371065807 | KAT6A | c.4439A>T (p.Asn1480Ile) c.4445A>T (p.Asn1482Ile) c.3120A>T c.4571A>T (p.Asn1524Ile) c.4550A>T (p.Asn1517Ile) c.4457A>T (p.Asn1486Ile) c.3011A>T (p.Asn1004Ile) | |
| 8 | g.41933781T>C | CA371065809 | KAT6A | c.4439A>G (p.Asn1480Ser) c.4445A>G (p.Asn1482Ser) c.3120A>G c.4571A>G (p.Asn1524Ser) c.4550A>G (p.Asn1517Ser) c.4457A>G (p.Asn1486Ser) c.3011A>G (p.Asn1004Ser) | dbSNP gnomAD v4 |
| 8 | g.41933781T>G | CA371065808 | KAT6A | c.4439A>C (p.Asn1480Thr) c.4445A>C (p.Asn1482Thr) c.3120A>C c.4571A>C (p.Asn1524Thr) c.4550A>C (p.Asn1517Thr) c.4457A>C (p.Asn1486Thr) c.3011A>C (p.Asn1004Thr) | |
| 8 | g.41933781T= | CA1779196066 | KAT6A | c.4439A= (p.Asn1480=) c.4445A= (p.Asn1482=) c.3120A= c.4571A= (p.Asn1524=) c.4550A= (p.Asn1517=) c.4457A= (p.Asn1486=) c.3011A= (p.Asn1004=) |