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.41933974G>A | CA371066462 | KAT6A | c.4246C>T (p.Pro1416Ser) c.4252C>T (p.Pro1418Ser) c.2927C>T c.4378C>T (p.Pro1460Ser) c.4357C>T (p.Pro1453Ser) c.4264C>T (p.Pro1422Ser) c.2818C>T (p.Pro940Ser) | dbSNP |
| 8 | g.41933974G>C | CA371066463 | KAT6A | c.4246C>G (p.Pro1416Ala) c.4252C>G (p.Pro1418Ala) c.2927C>G c.4378C>G (p.Pro1460Ala) c.4357C>G (p.Pro1453Ala) c.4264C>G (p.Pro1422Ala) c.2818C>G (p.Pro940Ala) | |
| 8 | g.41933974G= | CA1779196148 | KAT6A | c.4246C= (p.Pro1416=) c.4252C= (p.Pro1418=) c.2927C= c.4378C= (p.Pro1460=) c.4357C= (p.Pro1453=) c.4264C= (p.Pro1422=) c.2818C= (p.Pro940=) | |
| 8 | g.41933974G>T | CA371066461 | KAT6A | c.4246C>A (p.Pro1416Thr) c.4252C>A (p.Pro1418Thr) c.2927C>A c.4378C>A (p.Pro1460Thr) c.4357C>A (p.Pro1453Thr) c.4264C>A (p.Pro1422Thr) c.2818C>A (p.Pro940Thr) | |
| 8 | g.41933975A= | CA1779196149 | KAT6A | c.4245T= (p.Ile1415=) c.4251T= (p.Ile1417=) c.2926T= c.4377T= (p.Ile1459=) c.4356T= (p.Ile1452=) c.4263T= (p.Ile1421=) c.2817T= (p.Ile939=) | |
| 8 | g.41933975A>C | CA371066464 | KAT6A | c.4245T>G (p.Ile1415Met) c.4251T>G (p.Ile1417Met) c.2926T>G c.4377T>G (p.Ile1459Met) c.4356T>G (p.Ile1452Met) c.4263T>G (p.Ile1421Met) c.2817T>G (p.Ile939Met) | |
| 8 | g.41933975A>G | CA460783720 | KAT6A | c.4245T>C (p.Ile1415=) c.4251T>C (p.Ile1417=) c.2926T>C c.4377T>C (p.Ile1459=) c.4356T>C (p.Ile1452=) c.4263T>C (p.Ile1421=) c.2817T>C (p.Ile939=) | |
| 8 | g.41933975A>T | CA460783721 | KAT6A | c.4245T>A (p.Ile1415=) c.4251T>A (p.Ile1417=) c.2926T>A c.4377T>A (p.Ile1459=) c.4356T>A (p.Ile1452=) c.4263T>A (p.Ile1421=) c.2817T>A (p.Ile939=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933976A>C | CA371066465 | KAT6A | c.4244T>G (p.Ile1415Ser) c.4250T>G (p.Ile1417Ser) c.2925T>G c.4376T>G (p.Ile1459Ser) c.4355T>G (p.Ile1452Ser) c.4262T>G (p.Ile1421Ser) c.2816T>G (p.Ile939Ser) | gnomAD v4 |
| 8 | g.41933976A>G | CA371066466 | KAT6A | c.4244T>C (p.Ile1415Thr) c.4250T>C (p.Ile1417Thr) c.2925T>C c.4376T>C (p.Ile1459Thr) c.4355T>C (p.Ile1452Thr) c.4262T>C (p.Ile1421Thr) c.2816T>C (p.Ile939Thr) | |
| 8 | g.41933976A>T | CA371066467 | KAT6A | c.4244T>A (p.Ile1415Asn) c.4250T>A (p.Ile1417Asn) c.2925T>A c.4376T>A (p.Ile1459Asn) c.4355T>A (p.Ile1452Asn) c.4262T>A (p.Ile1421Asn) c.2816T>A (p.Ile939Asn) | |
| 8 | g.41933977T>A | CA371066468 | KAT6A | c.4243A>T (p.Ile1415Phe) c.4249A>T (p.Ile1417Phe) c.2924A>T c.4375A>T (p.Ile1459Phe) c.4354A>T (p.Ile1452Phe) c.4261A>T (p.Ile1421Phe) c.2815A>T (p.Ile939Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933977T>C | CA371066469 | KAT6A | c.4243A>G (p.Ile1415Val) c.4249A>G (p.Ile1417Val) c.2924A>G c.4375A>G (p.Ile1459Val) c.4354A>G (p.Ile1452Val) c.4261A>G (p.Ile1421Val) c.2815A>G (p.Ile939Val) | |
| 8 | g.41933977T>G | CA371066470 | KAT6A | c.4243A>C (p.Ile1415Leu) c.4249A>C (p.Ile1417Leu) c.2924A>C c.4375A>C (p.Ile1459Leu) c.4354A>C (p.Ile1452Leu) c.4261A>C (p.Ile1421Leu) c.2815A>C (p.Ile939Leu) | |
| 8 | g.41933977T= | CA1779196150 | KAT6A | c.4243A= (p.Ile1415=) c.4249A= (p.Ile1417=) c.2924A= c.4375A= (p.Ile1459=) c.4354A= (p.Ile1452=) c.4261A= (p.Ile1421=) c.2815A= (p.Ile939=) | |
| 8 | g.41933978C>A | CA371066471 | KAT6A | c.4242G>T (p.Glu1414Asp) c.4248G>T (p.Glu1416Asp) c.2923G>T c.4374G>T (p.Glu1458Asp) c.4353G>T (p.Glu1451Asp) c.4260G>T (p.Glu1420Asp) c.2814G>T (p.Glu938Asp) | |
| 8 | g.41933978C= | CA1779196151 | KAT6A | c.4242G= (p.Glu1414=) c.4248G= (p.Glu1416=) c.2923G= c.4374G= (p.Glu1458=) c.4353G= (p.Glu1451=) c.4260G= (p.Glu1420=) c.2814G= (p.Glu938=) | |
| 8 | g.41933978C>G | CA4729516 | KAT6A | c.4242G>C (p.Glu1414Asp) c.4248G>C (p.Glu1416Asp) c.2923G>C c.4374G>C (p.Glu1458Asp) c.4353G>C (p.Glu1451Asp) c.4260G>C (p.Glu1420Asp) c.2814G>C (p.Glu938Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933978C>T | CA460783725 | KAT6A | c.4242G>A (p.Glu1414=) c.4248G>A (p.Glu1416=) c.2923G>A c.4374G>A (p.Glu1458=) c.4353G>A (p.Glu1451=) c.4260G>A (p.Glu1420=) c.2814G>A (p.Glu938=) | |
| 8 | g.41933979T>A | CA371066472 | KAT6A | c.4241A>T (p.Glu1414Val) c.4247A>T (p.Glu1416Val) c.2922A>T c.4373A>T (p.Glu1458Val) c.4352A>T (p.Glu1451Val) c.4259A>T (p.Glu1420Val) c.2813A>T (p.Glu938Val) | |
| 8 | g.41933979T>C | CA371066473 | KAT6A | c.4241A>G (p.Glu1414Gly) c.4247A>G (p.Glu1416Gly) c.2922A>G c.4373A>G (p.Glu1458Gly) c.4352A>G (p.Glu1451Gly) c.4259A>G (p.Glu1420Gly) c.2813A>G (p.Glu938Gly) | |
| 8 | g.41933979T>G | CA371066474 | KAT6A | c.4241A>C (p.Glu1414Ala) c.4247A>C (p.Glu1416Ala) c.2922A>C c.4373A>C (p.Glu1458Ala) c.4352A>C (p.Glu1451Ala) c.4259A>C (p.Glu1420Ala) c.2813A>C (p.Glu938Ala) | dbSNP |
| 8 | g.41933979T= | CA1779196152 | KAT6A | c.4241A= (p.Glu1414=) c.4247A= (p.Glu1416=) c.2922A= c.4373A= (p.Glu1458=) c.4352A= (p.Glu1451=) c.4259A= (p.Glu1420=) c.2813A= (p.Glu938=) | |
| 8 | g.41933980C>A | CA371066476 | KAT6A | c.4240G>T (p.Glu1414Ter) c.4246G>T (p.Glu1416Ter) c.2921G>T c.4372G>T (p.Glu1458Ter) c.4351G>T (p.Glu1451Ter) c.4258G>T (p.Glu1420Ter) c.2812G>T (p.Glu938Ter) | |
| 8 | g.41933980C= | CA1779196153 | KAT6A | c.4240G= (p.Glu1414=) c.4246G= (p.Glu1416=) c.2921G= c.4372G= (p.Glu1458=) c.4351G= (p.Glu1451=) c.4258G= (p.Glu1420=) c.2812G= (p.Glu938=) | |
| 8 | g.41933980C>G | CA371066477 | KAT6A | c.4240G>C (p.Glu1414Gln) c.4246G>C (p.Glu1416Gln) c.2921G>C c.4372G>C (p.Glu1458Gln) c.4351G>C (p.Glu1451Gln) c.4258G>C (p.Glu1420Gln) c.2812G>C (p.Glu938Gln) | dbSNP |
| 8 | g.41933980C>T | CA371066475 | KAT6A | c.4240G>A (p.Glu1414Lys) c.4246G>A (p.Glu1416Lys) c.2921G>A c.4372G>A (p.Glu1458Lys) c.4351G>A (p.Glu1451Lys) c.4258G>A (p.Glu1420Lys) c.2812G>A (p.Glu938Lys) | |
| 8 | g.41933981T>A | CA371066478 | KAT6A | c.4239A>T (p.Glu1413Asp) c.4245A>T (p.Glu1415Asp) c.2920A>T c.4371A>T (p.Glu1457Asp) c.4350A>T (p.Glu1450Asp) c.4257A>T (p.Glu1419Asp) c.2811A>T (p.Glu937Asp) | |
| 8 | g.41933981T>C | CA4729517 | KAT6A | c.4239A>G (p.Glu1413=) c.4245A>G (p.Glu1415=) c.2920A>G c.4371A>G (p.Glu1457=) c.4350A>G (p.Glu1450=) c.4257A>G (p.Glu1419=) c.2811A>G (p.Glu937=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933981T>G | CA371066479 | KAT6A | c.4239A>C (p.Glu1413Asp) c.4245A>C (p.Glu1415Asp) c.2920A>C c.4371A>C (p.Glu1457Asp) c.4350A>C (p.Glu1450Asp) c.4257A>C (p.Glu1419Asp) c.2811A>C (p.Glu937Asp) | gnomAD v3 gnomAD v4 |
| 8 | g.41933981T= | CA1779196154 | KAT6A | c.4239A= (p.Glu1413=) c.4245A= (p.Glu1415=) c.2920A= c.4371A= (p.Glu1457=) c.4350A= (p.Glu1450=) c.4257A= (p.Glu1419=) c.2811A= (p.Glu937=) | |
| 8 | g.41933982T>A | CA371066480 | KAT6A | c.4238A>T (p.Glu1413Val) c.4244A>T (p.Glu1415Val) c.2919A>T c.4370A>T (p.Glu1457Val) c.4349A>T (p.Glu1450Val) c.4256A>T (p.Glu1419Val) c.2810A>T (p.Glu937Val) | |
| 8 | g.41933982T>C | CA371066481 | KAT6A | c.4238A>G (p.Glu1413Gly) c.4244A>G (p.Glu1415Gly) c.2919A>G c.4370A>G (p.Glu1457Gly) c.4349A>G (p.Glu1450Gly) c.4256A>G (p.Glu1419Gly) c.2810A>G (p.Glu937Gly) | |
| 8 | g.41933982T>G | CA371066482 | KAT6A | c.4238A>C (p.Glu1413Ala) c.4244A>C (p.Glu1415Ala) c.2919A>C c.4370A>C (p.Glu1457Ala) c.4349A>C (p.Glu1450Ala) c.4256A>C (p.Glu1419Ala) c.2810A>C (p.Glu937Ala) | |
| 8 | g.41933987_41933989del | CA913141695 | KAT6A | c.4236_4238del (p.Glu1413del) c.4242_4244del (p.Glu1415del) c.2917_2919del c.4368_4370del (p.Glu1457del) c.4347_4349del (p.Glu1450del) c.4254_4256del (p.Glu1419del) c.2808_2810del (p.Glu937del) | ClinVar |
| 8 | g.41933983C>A | CA371066485 | KAT6A | c.4237G>T (p.Glu1413Ter) c.4243G>T (p.Glu1415Ter) c.2918G>T c.4369G>T (p.Glu1457Ter) c.4348G>T (p.Glu1450Ter) c.4255G>T (p.Glu1419Ter) c.2809G>T (p.Glu937Ter) | |
| 8 | g.41933983C>G | CA371066483 | KAT6A | c.4237G>C (p.Glu1413Gln) c.4243G>C (p.Glu1415Gln) c.2918G>C c.4369G>C (p.Glu1457Gln) c.4348G>C (p.Glu1450Gln) c.4255G>C (p.Glu1419Gln) c.2809G>C (p.Glu937Gln) | |
| 8 | g.41933983C>T | CA371066484 | KAT6A | c.4237G>A (p.Glu1413Lys) c.4243G>A (p.Glu1415Lys) c.2918G>A c.4369G>A (p.Glu1457Lys) c.4348G>A (p.Glu1450Lys) c.4255G>A (p.Glu1419Lys) c.2809G>A (p.Glu937Lys) | |
| 8 | g.41933984C>A | CA371066486 | KAT6A | c.4236G>T (p.Glu1412Asp) c.4242G>T (p.Glu1414Asp) c.2917G>T c.4368G>T (p.Glu1456Asp) c.4347G>T (p.Glu1449Asp) c.4254G>T (p.Glu1418Asp) c.2808G>T (p.Glu936Asp) | |
| 8 | g.41933984C= | CA1779196155 | KAT6A | c.4236G= (p.Glu1412=) c.4242G= (p.Glu1414=) c.2917G= c.4368G= (p.Glu1456=) c.4347G= (p.Glu1449=) c.4254G= (p.Glu1418=) c.2808G= (p.Glu936=) | |
| 8 | g.41933984C>G | CA371066487 | KAT6A | c.4236G>C (p.Glu1412Asp) c.4242G>C (p.Glu1414Asp) c.2917G>C c.4368G>C (p.Glu1456Asp) c.4347G>C (p.Glu1449Asp) c.4254G>C (p.Glu1418Asp) c.2808G>C (p.Glu936Asp) | |
| 8 | g.41933984C>T | CA460783733 | KAT6A | c.4236G>A (p.Glu1412=) c.4242G>A (p.Glu1414=) c.2917G>A c.4368G>A (p.Glu1456=) c.4347G>A (p.Glu1449=) c.4254G>A (p.Glu1418=) c.2808G>A (p.Glu936=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933985T>A | CA371066488 | KAT6A | c.4235A>T (p.Glu1412Val) c.4241A>T (p.Glu1414Val) c.2916A>T c.4367A>T (p.Glu1456Val) c.4346A>T (p.Glu1449Val) c.4253A>T (p.Glu1418Val) c.2807A>T (p.Glu936Val) | gnomAD v4 |
| 8 | g.41933985T>C | CA371066489 | KAT6A | c.4235A>G (p.Glu1412Gly) c.4241A>G (p.Glu1414Gly) c.2916A>G c.4367A>G (p.Glu1456Gly) c.4346A>G (p.Glu1449Gly) c.4253A>G (p.Glu1418Gly) c.2807A>G (p.Glu936Gly) | ClinVar dbSNP |
| 8 | g.41933985T>G | CA371066490 | KAT6A | c.4235A>C (p.Glu1412Ala) c.4241A>C (p.Glu1414Ala) c.2916A>C c.4367A>C (p.Glu1456Ala) c.4346A>C (p.Glu1449Ala) c.4253A>C (p.Glu1418Ala) c.2807A>C (p.Glu936Ala) | |
| 8 | g.41933985T= | CA1779196156 | KAT6A | c.4235A= (p.Glu1412=) c.4241A= (p.Glu1414=) c.2916A= c.4367A= (p.Glu1456=) c.4346A= (p.Glu1449=) c.4253A= (p.Glu1418=) c.2807A= (p.Glu936=) | |
| 8 | g.41933986C>A | CA371066491 | KAT6A | c.4234G>T (p.Glu1412Ter) c.4240G>T (p.Glu1414Ter) c.2915G>T c.4366G>T (p.Glu1456Ter) c.4345G>T (p.Glu1449Ter) c.4252G>T (p.Glu1418Ter) c.2806G>T (p.Glu936Ter) | |
| 8 | g.41933986C>G | CA371066493 | KAT6A | c.4234G>C (p.Glu1412Gln) c.4240G>C (p.Glu1414Gln) c.2915G>C c.4366G>C (p.Glu1456Gln) c.4345G>C (p.Glu1449Gln) c.4252G>C (p.Glu1418Gln) c.2806G>C (p.Glu936Gln) | |
| 8 | g.41933986C>T | CA371066492 | KAT6A | c.4234G>A (p.Glu1412Lys) c.4240G>A (p.Glu1414Lys) c.2915G>A c.4366G>A (p.Glu1456Lys) c.4345G>A (p.Glu1449Lys) c.4252G>A (p.Glu1418Lys) c.2806G>A (p.Glu936Lys) | |
| 8 | g.41933987C>A | CA371066494 | KAT6A | c.4233G>T (p.Glu1411Asp) c.4239G>T (p.Glu1413Asp) c.2914G>T c.4365G>T (p.Glu1455Asp) c.4344G>T (p.Glu1448Asp) c.4251G>T (p.Glu1417Asp) c.2805G>T (p.Glu935Asp) |