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 |
|---|---|---|---|---|---|
| 22 | g.41178842T>A | CA514795074 | EP300 | c.7131T>A (p.Ala2377=) c.7053T>A (p.Ala2351=) | |
| 22 | g.41178842T>C | CA514795075 | EP300 | c.7131T>C (p.Ala2377=) c.7053T>C (p.Ala2351=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.41178842T>G | CA514795076 | EP300 | c.7131T>G (p.Ala2377=) c.7053T>G (p.Ala2351=) | |
| 22 | g.41178842T= | CA2406118817 | EP300 | c.7131T= (p.Ala2377=) c.7053T= (p.Ala2351=) | |
| 22 | g.41178842dup | CA2697552784 | EP300 | c.7131dup (p.Ser2378Ter) c.7053dup (p.Ser2352Ter) | ClinVar |
| 22 | g.41178843del | CA2737944240 | EP300 | c.7132del (p.Ser2378AlafsTer25) c.7054del (p.Ser2352AlafsTer25) | dbSNP |
| 22 | g.41178843A= | CA2406118818 | EP300 | c.7132A= (p.Ser2378=) c.7054A= (p.Ser2352=) | |
| 22 | g.41178843A>C | CA411684516 | EP300 | c.7132A>C (p.Ser2378Arg) c.7054A>C (p.Ser2352Arg) | |
| 22 | g.41178843A>G | CA324520364 | EP300 | c.7132A>G (p.Ser2378Gly) c.7054A>G (p.Ser2352Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178843A>T | CA411684517 | EP300 | c.7132A>T (p.Ser2378Cys) c.7054A>T (p.Ser2352Cys) | dbSNP |
| 22 | g.41178844G>A | CA411684520 | EP300 | c.7133G>A (p.Ser2378Asn) c.7055G>A (p.Ser2352Asn) | dbSNP |
| 22 | g.41178844G>C | CA411684521 | EP300 | c.7133G>C (p.Ser2378Thr) c.7055G>C (p.Ser2352Thr) | dbSNP |
| 22 | g.41178844G>T | CA411684522 | EP300 | c.7133G>T (p.Ser2378Ile) c.7055G>T (p.Ser2352Ile) | |
| 22 | g.41178845C>A | CA411684524 | EP300 | c.7134C>A (p.Ser2378Arg) c.7056C>A (p.Ser2352Arg) | |
| 22 | g.41178845C>G | CA411684526 | EP300 | c.7134C>G (p.Ser2378Arg) c.7056C>G (p.Ser2352Arg) | |
| 22 | g.41178845C>T | CA514795080 | EP300 | c.7134C>T (p.Ser2378=) c.7056C>T (p.Ser2352=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178846A= | CA2406118819 | EP300 | c.7135A= (p.Asn2379=) c.7057A= (p.Asn2353=) | |
| 22 | g.41178846A>C | CA10254038 | EP300 | c.7135A>C (p.Asn2379His) c.7057A>C (p.Asn2353His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178846A>G | CA411684531 | EP300 | c.7135A>G (p.Asn2379Asp) c.7057A>G (p.Asn2353Asp) | ClinVar |
| 22 | g.41178846A>T | CA411684530 | EP300 | c.7135A>T (p.Asn2379Tyr) c.7057A>T (p.Asn2353Tyr) | |
| 22 | g.41178847A= | CA2406118820 | EP300 | c.7136A= (p.Asn2379=) c.7058A= (p.Asn2353=) | |
| 22 | g.41178847A>C | CA411684533 | EP300 | c.7136A>C (p.Asn2379Thr) c.7058A>C (p.Asn2353Thr) | dbSNP |
| 22 | g.41178847A>G | CA10654162 | EP300 | c.7136A>G (p.Asn2379Ser) c.7058A>G (p.Asn2353Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178847A>T | CA411684536 | EP300 | c.7136A>T (p.Asn2379Ile) c.7058A>T (p.Asn2353Ile) | dbSNP |
| 22 | g.41178848T>A | CA411684538 | EP300 | c.7137T>A (p.Asn2379Lys) c.7059T>A (p.Asn2353Lys) | |
| 22 | g.41178848T>C | CA514795083 | EP300 | c.7137T>C (p.Asn2379=) c.7059T>C (p.Asn2353=) | |
| 22 | g.41178848T>G | CA411684540 | EP300 | c.7137T>G (p.Asn2379Lys) c.7059T>G (p.Asn2353Lys) | dbSNP |
| 22 | g.41178848T= | CA2406118821 | EP300 | c.7137T= (p.Asn2379=) c.7059T= (p.Asn2353=) | |
| 22 | g.41178849C>A | CA411684542 | EP300 | c.7138C>A (p.Pro2380Thr) c.7060C>A (p.Pro2354Thr) | |
| 22 | g.41178849C>G | CA411684544 | EP300 | c.7138C>G (p.Pro2380Ala) c.7060C>G (p.Pro2354Ala) | dbSNP gnomAD v4 COSMIC |
| 22 | g.41178849C>T | CA411684545 | EP300 | c.7138C>T (p.Pro2380Ser) c.7060C>T (p.Pro2354Ser) | ClinVar gnomAD v4 |
| 22 | g.41178850C>A | CA411684547 | EP300 | c.7139C>A (p.Pro2380Gln) c.7061C>A (p.Pro2354Gln) | |
| 22 | g.41178850C= | CA2406118822 | EP300 | c.7139C= (p.Pro2380=) c.7061C= (p.Pro2354=) | |
| 22 | g.41178850C>G | CA411684548 | EP300 | c.7139C>G (p.Pro2380Arg) c.7061C>G (p.Pro2354Arg) | dbSNP |
| 22 | g.41178850C>T | CA158520 | EP300 | c.7139C>T (p.Pro2380Leu) c.7061C>T (p.Pro2354Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178851A= | CA2406118823 | EP300 | c.7140A= (p.Pro2380=) c.7062A= (p.Pro2354=) | |
| 22 | g.41178851A>C | CA514795089 | EP300 | c.7140A>C (p.Pro2380=) c.7062A>C (p.Pro2354=) | |
| 22 | g.41178851A>G | CA10254039 | EP300 | c.7140A>G (p.Pro2380=) c.7062A>G (p.Pro2354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178851A>T | CA514795090 | EP300 | c.7140A>T (p.Pro2380=) c.7062A>T (p.Pro2354=) | dbSNP |
| 22 | g.41178852G>A | CA411684553 | EP300 | c.7141G>A (p.Gly2381Ser) c.7063G>A (p.Gly2355Ser) | dbSNP gnomAD v4 |
| 22 | g.41178852G>C | CA411684554 | EP300 | c.7141G>C (p.Gly2381Arg) c.7063G>C (p.Gly2355Arg) | dbSNP |
| 22 | g.41178852G>T | CA411684551 | EP300 | c.7141G>T (p.Gly2381Cys) c.7063G>T (p.Gly2355Cys) | dbSNP |
| 22 | g.41178853G>A | CA411684560 | EP300 | c.7142G>A (p.Gly2381Asp) c.7064G>A (p.Gly2355Asp) | ClinVar dbSNP gnomAD v2 |
| 22 | g.41178853G>C | CA411684557 | EP300 | c.7142G>C (p.Gly2381Ala) c.7064G>C (p.Gly2355Ala) | dbSNP |
| 22 | g.41178853G= | CA2406118824 | EP300 | c.7142G= (p.Gly2381=) c.7064G= (p.Gly2355=) | |
| 22 | g.41178853G>T | CA411684559 | EP300 | c.7142G>T (p.Gly2381Val) c.7064G>T (p.Gly2355Val) | dbSNP |
| 22 | g.41178854C>A | CA514795095 | EP300 | c.7143C>A (p.Gly2381=) c.7065C>A (p.Gly2355=) | dbSNP |
| 22 | g.41178854C= | CA2406118825 | EP300 | c.7143C= (p.Gly2381=) c.7065C= (p.Gly2355=) | |
| 22 | g.41178854C>G | CA514795097 | EP300 | c.7143C>G (p.Gly2381=) c.7065C>G (p.Gly2355=) | dbSNP |
| 22 | g.41178854C>T | CA514795099 | EP300 | c.7143C>T (p.Gly2381=) c.7065C>T (p.Gly2355=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178855A= | CA2406118826 | EP300 | c.7144A= (p.Met2382=) c.7066A= (p.Met2356=) | |
| 22 | g.41178855A>C | CA411684562 | EP300 | c.7144A>C (p.Met2382Leu) c.7066A>C (p.Met2356Leu) | gnomAD v4 |
| 22 | g.41178855A>G | CA411684564 | EP300 | c.7144A>G (p.Met2382Val) c.7066A>G (p.Met2356Val) | |
| 22 | g.41178855A>T | CA411684565 | EP300 | c.7144A>T (p.Met2382Leu) c.7066A>T (p.Met2356Leu) | dbSNP gnomAD v4 |
| 22 | g.41178856T>A | CA411684570 | EP300 | c.7145T>A (p.Met2382Lys) c.7067T>A (p.Met2356Lys) | |
| 22 | g.41178856T>C | CA10254040 | EP300 | c.7145T>C (p.Met2382Thr) c.7067T>C (p.Met2356Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178856T>G | CA411684568 | EP300 | c.7145T>G (p.Met2382Arg) c.7067T>G (p.Met2356Arg) | gnomAD v4 |
| 22 | g.41178856T= | CA2406118827 | EP300 | c.7145T= (p.Met2382=) c.7067T= (p.Met2356=) | |
| 22 | g.41178857G>A | CA411684572 | EP300 | c.7146G>A (p.Met2382Ile) c.7068G>A (p.Met2356Ile) | gnomAD v4 |
| 22 | g.41178857G>C | CA411684574 | EP300 | c.7146G>C (p.Met2382Ile) c.7068G>C (p.Met2356Ile) | dbSNP |
| 22 | g.41178857G>T | CA411684576 | EP300 | c.7146G>T (p.Met2382Ile) c.7068G>T (p.Met2356Ile) | dbSNP |
| 22 | g.41178858del | CA2737944302 | EP300 | c.7147del (p.Ala2383GlnfsTer20) c.7069del (p.Ala2357GlnfsTer20) | dbSNP |
| 22 | g.41178858G>A | CA411684579 | EP300 | c.7147G>A (p.Ala2383Thr) c.7069G>A (p.Ala2357Thr) | dbSNP |
| 22 | g.41178858G>C | CA411684580 | EP300 | c.7147G>C (p.Ala2383Pro) c.7069G>C (p.Ala2357Pro) | dbSNP |
| 22 | g.41178858G= | CA2406118828 | EP300 | c.7147G= (p.Ala2383=) c.7069G= (p.Ala2357=) | |
| 22 | g.41178858G>T | CA411684582 | EP300 | c.7147G>T (p.Ala2383Ser) c.7069G>T (p.Ala2357Ser) | dbSNP |
| 22 | g.41178859C>A | CA411684584 | EP300 | c.7148C>A (p.Ala2383Glu) c.7070C>A (p.Ala2357Glu) | dbSNP |
| 22 | g.41178859C>G | CA411684587 | EP300 | c.7148C>G (p.Ala2383Gly) c.7070C>G (p.Ala2357Gly) | dbSNP |
| 22 | g.41178859C>T | CA411684586 | EP300 | c.7148C>T (p.Ala2383Val) c.7070C>T (p.Ala2357Val) | dbSNP gnomAD v4 |
| 22 | g.41178860A>C | CA514795105 | EP300 | c.7149A>C (p.Ala2383=) c.7071A>C (p.Ala2357=) | |
| 22 | g.41178860A>G | CA514795109 | EP300 | c.7149A>G (p.Ala2383=) c.7071A>G (p.Ala2357=) | ClinVar |
| 22 | g.41178860A>T | CA514795108 | EP300 | c.7149A>T (p.Ala2383=) c.7071A>T (p.Ala2357=) | dbSNP |
| 22 | g.41178860_41178868dup | CA2656912657 | EP300 | c.7149_7157dup (p.Leu2385_His2386insGlnAsnLeu) c.7071_7079dup (p.Leu2359_His2360insGlnAsnLeu) | gnomAD v4 |
| 22 | g.41178861A= | CA2406118829 | EP300 | c.7150A= (p.Asn2384=) c.7072A= (p.Asn2358=) | |
| 22 | g.41178861A>C | CA411684590 | EP300 | c.7150A>C (p.Asn2384His) c.7072A>C (p.Asn2358His) | dbSNP |
| 22 | g.41178861A>G | CA10254041 | EP300 | c.7150A>G (p.Asn2384Asp) c.7072A>G (p.Asn2358Asp) | dbSNP ExAC gnomAD v4 |
| 22 | g.41178861A>T | CA411684592 | EP300 | c.7150A>T (p.Asn2384Tyr) c.7072A>T (p.Asn2358Tyr) | |
| 22 | g.41178862A>C | CA411684595 | EP300 | c.7151A>C (p.Asn2384Thr) c.7073A>C (p.Asn2358Thr) | dbSNP |
| 22 | g.41178862A>G | CA411684597 | EP300 | c.7151A>G (p.Asn2384Ser) c.7073A>G (p.Asn2358Ser) | dbSNP gnomAD v4 |
| 22 | g.41178862A>T | CA411684598 | EP300 | c.7151A>T (p.Asn2384Ile) c.7073A>T (p.Asn2358Ile) | dbSNP |
| 22 | g.41178862_41178865delinsACCT | CA2406118830 | EP300 | c.7151_7154delinsACCT (p.Asn2384=) c.7073_7076delinsACCT (p.Asn2358=) | |
| 22 | g.41178863C>A | CA411684600 | EP300 | c.7152C>A (p.Asn2384Lys) c.7074C>A (p.Asn2358Lys) | dbSNP gnomAD v2 |
| 22 | g.41178863C= | CA2406118832 | EP300 | c.7152C= (p.Asn2384=) c.7074C= (p.Asn2358=) | |
| 22 | g.41178863C>G | CA411684602 | EP300 | c.7152C>G (p.Asn2384Lys) c.7074C>G (p.Asn2358Lys) | dbSNP |
| 22 | g.41178863C>T | CA514795115 | EP300 | c.7152C>T (p.Asn2384=) c.7074C>T (p.Asn2358=) | dbSNP gnomAD v4 |
| 22 | g.41178865_41178867del | CA2406118831 | EP300 | c.7154_7156del (p.Leu2385del) c.7076_7078del (p.Leu2359del) | dbSNP |
| 22 | g.41178864C>A | CA411684603 | EP300 | c.7153C>A (p.Leu2385Ile) c.7075C>A (p.Leu2359Ile) | |
| 22 | g.41178864C= | CA2406118833 | EP300 | c.7153C= (p.Leu2385=) c.7075C= (p.Leu2359=) | |
| 22 | g.41178864C>G | CA411684605 | EP300 | c.7153C>G (p.Leu2385Val) c.7075C>G (p.Leu2359Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178864C>T | CA10254042 | EP300 | c.7153C>T (p.Leu2385Phe) c.7075C>T (p.Leu2359Phe) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.41178865_41178866del | CA2656912658 | EP300 | c.7154_7155del (p.Leu2385ProfsTer14) c.7076_7077del (p.Leu2359ProfsTer14) | gnomAD v4 |
| 22 | g.41178865T>A | CA411684610 | EP300 | c.7154T>A (p.Leu2385His) c.7076T>A (p.Leu2359His) | |
| 22 | g.41178865T>C | CA10254043 | EP300 | c.7154T>C (p.Leu2385Pro) c.7076T>C (p.Leu2359Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178865T>G | CA411684607 | EP300 | c.7154T>G (p.Leu2385Arg) c.7076T>G (p.Leu2359Arg) | |
| 22 | g.41178865T= | CA2406118834 | EP300 | c.7154T= (p.Leu2385=) c.7076T= (p.Leu2359=) | |
| 22 | g.41178866C>A | CA514795120 | EP300 | c.7155C>A (p.Leu2385=) c.7077C>A (p.Leu2359=) | dbSNP |
| 22 | g.41178866C= | CA2406118835 | EP300 | c.7155C= (p.Leu2385=) c.7077C= (p.Leu2359=) | |
| 22 | g.41178866C>G | CA10254044 | EP300 | c.7155C>G (p.Leu2385=) c.7077C>G (p.Leu2359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178866C>T | CA514795122 | EP300 | c.7155C>T (p.Leu2385=) c.7077C>T (p.Leu2359=) | dbSNP |
| 22 | g.41178867del | CA2737944345 | EP300 | c.7156del (p.His2386MetfsTer17) c.7078del (p.His2360MetfsTer17) | dbSNP |
| 22 | g.41178867C>A | CA411684612 | EP300 | c.7156C>A (p.His2386Asn) c.7078C>A (p.His2360Asn) | |
| 22 | g.41178867C>G | CA411684614 | EP300 | c.7156C>G (p.His2386Asp) c.7078C>G (p.His2360Asp) | dbSNP |
| 22 | g.41178867C>T | CA411684615 | EP300 | c.7156C>T (p.His2386Tyr) c.7078C>T (p.His2360Tyr) | dbSNP |
| 22 | g.41178868A= | CA2406118836 | EP300 | c.7157A= (p.His2386=) c.7079A= (p.His2360=) | |
| 22 | g.41178868A>C | CA411684618 | EP300 | c.7157A>C (p.His2386Pro) c.7079A>C (p.His2360Pro) | dbSNP |
| 22 | g.41178868A>G | CA10254045 | EP300 | c.7157A>G (p.His2386Arg) c.7079A>G (p.His2360Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178868A>T | CA411684620 | EP300 | c.7157A>T (p.His2386Leu) c.7079A>T (p.His2360Leu) | dbSNP |
| 22 | g.41178869T>A | CA411684622 | EP300 | c.7158T>A (p.His2386Gln) c.7080T>A (p.His2360Gln) | |
| 22 | g.41178869T>C | CA10254046 | EP300 | c.7158T>C (p.His2386=) c.7080T>C (p.His2360=) | dbSNP ExAC gnomAD v2 |
| 22 | g.41178869T>G | CA411684625 | EP300 | c.7158T>G (p.His2386Gln) c.7080T>G (p.His2360Gln) | |
| 22 | g.41178869T= | CA2406118837 | EP300 | c.7158T= (p.His2386=) c.7080T= (p.His2360=) | |
| 22 | g.41178870G>A | CA10254047 | EP300 | c.7159G>A (p.Gly2387Ser) c.7081G>A (p.Gly2361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178870G>C | CA411684628 | EP300 | c.7159G>C (p.Gly2387Arg) c.7081G>C (p.Gly2361Arg) | dbSNP |
| 22 | g.41178870G= | CA2406118838 | EP300 | c.7159G= (p.Gly2387=) c.7081G= (p.Gly2361=) | |
| 22 | g.41178870G>T | CA411684629 | EP300 | c.7159G>T (p.Gly2387Cys) c.7081G>T (p.Gly2361Cys) | |
| 22 | g.41178871G>A | CA411684635 | EP300 | c.7160G>A (p.Gly2387Asp) c.7082G>A (p.Gly2361Asp) | dbSNP |
| 22 | g.41178871G>C | CA411684632 | EP300 | c.7160G>C (p.Gly2387Ala) c.7082G>C (p.Gly2361Ala) | dbSNP |
| 22 | g.41178871G= | CA2406118839 | EP300 | c.7160G= (p.Gly2387=) c.7082G= (p.Gly2361=) | |
| 22 | g.41178871G>T | CA411684634 | EP300 | c.7160G>T (p.Gly2387Val) c.7082G>T (p.Gly2361Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178872T>A | CA514795129 | EP300 | c.7161T>A (p.Gly2387=) c.7083T>A (p.Gly2361=) | dbSNP |
| 22 | g.41178872T>C | CA10254048 | EP300 | c.7161T>C (p.Gly2387=) c.7083T>C (p.Gly2361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178872T>G | CA514795131 | EP300 | c.7161T>G (p.Gly2387=) c.7083T>G (p.Gly2361=) | dbSNP |
| 22 | g.41178872T= | CA2406118840 | EP300 | c.7161T= (p.Gly2387=) c.7083T= (p.Gly2361=) | |
| 22 | g.41178873G>A | CA411684639 | EP300 | c.7162G>A (p.Ala2388Thr) c.7084G>A (p.Ala2362Thr) | dbSNP gnomAD v4 |
| 22 | g.41178873G>C | CA411684641 | EP300 | c.7162G>C (p.Ala2388Pro) c.7084G>C (p.Ala2362Pro) | dbSNP |
| 22 | g.41178873G>T | CA411684643 | EP300 | c.7162G>T (p.Ala2388Ser) c.7084G>T (p.Ala2362Ser) | |
| 22 | g.41178874C>A | CA411684645 | EP300 | c.7163C>A (p.Ala2388Glu) c.7085C>A (p.Ala2362Glu) | |
| 22 | g.41178874C= | CA2406118841 | EP300 | c.7163C= (p.Ala2388=) c.7085C= (p.Ala2362=) | |
| 22 | g.41178874C>G | CA411684647 | EP300 | c.7163C>G (p.Ala2388Gly) c.7085C>G (p.Ala2362Gly) | dbSNP gnomAD v4 |
| 22 | g.41178874C>T | CA411684649 | EP300 | c.7163C>T (p.Ala2388Val) c.7085C>T (p.Ala2362Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178875A>C | CA514795139 | EP300 | c.7164A>C (p.Ala2388=) c.7086A>C (p.Ala2362=) | |
| 22 | g.41178875A>G | CA514795134 | EP300 | c.7164A>G (p.Ala2388=) c.7086A>G (p.Ala2362=) | dbSNP gnomAD v4 |
| 22 | g.41178875A>T | CA514795136 | EP300 | c.7164A>T (p.Ala2388=) c.7086A>T (p.Ala2362=) | dbSNP |
| 22 | g.41178876A= | CA2406118842 | EP300 | c.7165A= (p.Ser2389=) c.7087A= (p.Ser2363=) | |
| 22 | g.41178876A>C | CA411684651 | EP300 | c.7165A>C (p.Ser2389Arg) c.7087A>C (p.Ser2363Arg) | dbSNP |
| 22 | g.41178876A>G | CA411684653 | EP300 | c.7165A>G (p.Ser2389Gly) c.7087A>G (p.Ser2363Gly) | dbSNP |
| 22 | g.41178876A>T | CA411684655 | EP300 | c.7165A>T (p.Ser2389Cys) c.7087A>T (p.Ser2363Cys) | dbSNP gnomAD v4 |
| 22 | g.41178877G>A | CA411684656 | EP300 | c.7166G>A (p.Ser2389Asn) c.7088G>A (p.Ser2363Asn) | dbSNP |
| 22 | g.41178877G>C | CA411684658 | EP300 | c.7166G>C (p.Ser2389Thr) c.7088G>C (p.Ser2363Thr) | dbSNP gnomAD v4 |
| 22 | g.41178877G>T | CA411684659 | EP300 | c.7166G>T (p.Ser2389Ile) c.7088G>T (p.Ser2363Ile) | |
| 22 | g.41178878C>A | CA411684661 | EP300 | c.7167C>A (p.Ser2389Arg) c.7089C>A (p.Ser2363Arg) | |
| 22 | g.41178878C= | CA2406118843 | EP300 | c.7167C= (p.Ser2389=) c.7089C= (p.Ser2363=) | |
| 22 | g.41178878C>G | CA411684663 | EP300 | c.7167C>G (p.Ser2389Arg) c.7089C>G (p.Ser2363Arg) | dbSNP |
| 22 | g.41178878C>T | CA10254049 | EP300 | c.7167C>T (p.Ser2389=) c.7089C>T (p.Ser2363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178879G>A | CA10254050 | EP300 | c.7168G>A (p.Ala2390Thr) c.7090G>A (p.Ala2364Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178879G>C | CA411684665 | EP300 | c.7168G>C (p.Ala2390Pro) c.7090G>C (p.Ala2364Pro) | |
| 22 | g.41178879G= | CA2406118844 | EP300 | c.7168G= (p.Ala2390=) c.7090G= (p.Ala2364=) | |
| 22 | g.41178879G>T | CA411684666 | EP300 | c.7168G>T (p.Ala2390Ser) c.7090G>T (p.Ala2364Ser) | |
| 22 | g.41178880C>A | CA411684667 | EP300 | c.7169C>A (p.Ala2390Asp) c.7091C>A (p.Ala2364Asp) | |
| 22 | g.41178880C>G | CA411684668 | EP300 | c.7169C>G (p.Ala2390Gly) c.7091C>G (p.Ala2364Gly) | dbSNP |
| 22 | g.41178880C>T | CA411684669 | EP300 | c.7169C>T (p.Ala2390Val) c.7091C>T (p.Ala2364Val) | dbSNP gnomAD v4 |
| 22 | g.41178881C>A | CA514795149 | EP300 | c.7170C>A (p.Ala2390=) c.7092C>A (p.Ala2364=) | |
| 22 | g.41178881C>G | CA514795150 | EP300 | c.7170C>G (p.Ala2390=) c.7092C>G (p.Ala2364=) | dbSNP |
| 22 | g.41178881C>T | CA514795151 | EP300 | c.7170C>T (p.Ala2390=) c.7092C>T (p.Ala2364=) | gnomAD v4 |
| 22 | g.41178882A>C | CA411684670 | EP300 | c.7171A>C (p.Thr2391Pro) c.7093A>C (p.Thr2365Pro) | dbSNP |
| 22 | g.41178882A>G | CA411684671 | EP300 | c.7171A>G (p.Thr2391Ala) c.7093A>G (p.Thr2365Ala) | dbSNP gnomAD v4 |
| 22 | g.41178882A>T | CA411684672 | EP300 | c.7171A>T (p.Thr2391Ser) c.7093A>T (p.Thr2365Ser) | dbSNP |
| 22 | g.41178883C>A | CA411684673 | EP300 | c.7172C>A (p.Thr2391Lys) c.7094C>A (p.Thr2365Lys) | dbSNP |
| 22 | g.41178883C= | CA2406118845 | EP300 | c.7172C= (p.Thr2391=) c.7094C= (p.Thr2365=) | |
| 22 | g.41178883C>G | CA411684674 | EP300 | c.7172C>G (p.Thr2391Arg) c.7094C>G (p.Thr2365Arg) | dbSNP gnomAD v4 |
| 22 | g.41178883C>T | CA10254051 | EP300 | c.7172C>T (p.Thr2391Met) c.7094C>T (p.Thr2365Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178884G>A | CA10254052 | EP300 | c.7173G>A (p.Thr2391=) c.7095G>A (p.Thr2365=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178884G>C | CA514795157 | EP300 | c.7173G>C (p.Thr2391=) c.7095G>C (p.Thr2365=) | dbSNP |
| 22 | g.41178884G= | CA2406118846 | EP300 | c.7173G= (p.Thr2391=) c.7095G= (p.Thr2365=) | |
| 22 | g.41178884G>T | CA514795156 | EP300 | c.7173G>T (p.Thr2391=) c.7095G>T (p.Thr2365=) | dbSNP |
| 22 | g.41178885G>A | CA324520428 | EP300 | c.7174G>A (p.Asp2392Asn) c.7096G>A (p.Asp2366Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178885G>C | CA411684675 | EP300 | c.7174G>C (p.Asp2392His) c.7096G>C (p.Asp2366His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178885G= | CA2406118847 | EP300 | c.7174G= (p.Asp2392=) c.7096G= (p.Asp2366=) | |
| 22 | g.41178885G>T | CA411684676 | EP300 | c.7174G>T (p.Asp2392Tyr) c.7096G>T (p.Asp2366Tyr) | |
| 22 | g.41178886A>C | CA411684677 | EP300 | c.7175A>C (p.Asp2392Ala) c.7097A>C (p.Asp2366Ala) | |
| 22 | g.41178886A>G | CA411684679 | EP300 | c.7175A>G (p.Asp2392Gly) c.7097A>G (p.Asp2366Gly) | gnomAD v4 |
| 22 | g.41178886A>T | CA411684678 | EP300 | c.7175A>T (p.Asp2392Val) c.7097A>T (p.Asp2366Val) | |
| 22 | g.41178887C>A | CA411684680 | EP300 | c.7176C>A (p.Asp2392Glu) c.7098C>A (p.Asp2366Glu) | |
| 22 | g.41178887C>G | CA411684681 | EP300 | c.7176C>G (p.Asp2392Glu) c.7098C>G (p.Asp2366Glu) | dbSNP |
| 22 | g.41178887C>T | CA514795167 | EP300 | c.7176C>T (p.Asp2392=) c.7098C>T (p.Asp2366=) | dbSNP gnomAD v4 |
| 22 | g.41178888C>A | CA411684682 | EP300 | c.7177C>A (p.Leu2393Met) c.7099C>A (p.Leu2367Met) | dbSNP |
| 22 | g.41178888C= | CA2406118848 | EP300 | c.7177C= (p.Leu2393=) c.7099C= (p.Leu2367=) | |
| 22 | g.41178888C>G | CA10254053 | EP300 | c.7177C>G (p.Leu2393Val) c.7099C>G (p.Leu2367Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178888C>T | CA10254054 | EP300 | c.7177C>T (p.Leu2393=) c.7099C>T (p.Leu2367=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178889T>A | CA411684683 | EP300 | c.7178T>A (p.Leu2393Gln) c.7100T>A (p.Leu2367Gln) | |
| 22 | g.41178889T>C | CA411684684 | EP300 | c.7178T>C (p.Leu2393Pro) c.7100T>C (p.Leu2367Pro) | gnomAD v4 |
| 22 | g.41178889T>G | CA411684685 | EP300 | c.7178T>G (p.Leu2393Arg) c.7100T>G (p.Leu2367Arg) | |
| 22 | g.41178890G>A | CA514795169 | EP300 | c.7179G>A (p.Leu2393=) c.7101G>A (p.Leu2367=) | dbSNP |
| 22 | g.41178890G>C | CA324520439 | EP300 | c.7179G>C (p.Leu2393=) c.7101G>C (p.Leu2367=) | dbSNP |
| 22 | g.41178890G= | CA2406118849 | EP300 | c.7179G= (p.Leu2393=) c.7101G= (p.Leu2367=) | |
| 22 | g.41178890G>T | CA514795171 | EP300 | c.7179G>T (p.Leu2393=) c.7101G>T (p.Leu2367=) | |
| 22 | g.41178891G>A | CA411684686 | EP300 | c.7180G>A (p.Gly2394Arg) c.7102G>A (p.Gly2368Arg) | dbSNP gnomAD v4 |
| 22 | g.41178891G>C | CA411684687 | EP300 | c.7180G>C (p.Gly2394Arg) c.7102G>C (p.Gly2368Arg) | dbSNP |
| 22 | g.41178891G>T | CA411684688 | EP300 | c.7180G>T (p.Gly2394Ter) c.7102G>T (p.Gly2368Ter) | dbSNP gnomAD v4 |
| 22 | g.41178892G>A | CA411684690 | EP300 | c.7181G>A (p.Gly2394Glu) c.7103G>A (p.Gly2368Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178892G>C | CA411684691 | EP300 | c.7181G>C (p.Gly2394Ala) c.7103G>C (p.Gly2368Ala) | dbSNP |
| 22 | g.41178892G= | CA2406118850 | EP300 | c.7181G= (p.Gly2394=) c.7103G= (p.Gly2368=) | |
| 22 | g.41178892G>T | CA411684689 | EP300 | c.7181G>T (p.Gly2394Val) c.7103G>T (p.Gly2368Val) | |
| 22 | g.41178893A= | CA2406118851 | EP300 | c.7182A= (p.Gly2394=) c.7104A= (p.Gly2368=) | |
| 22 | g.41178893A>C | CA514795176 | EP300 | c.7182A>C (p.Gly2394=) c.7104A>C (p.Gly2368=) | dbSNP |
| 22 | g.41178893A>G | CA10254055 | EP300 | c.7182A>G (p.Gly2394=) c.7104A>G (p.Gly2368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178893A>T | CA514795177 | EP300 | c.7182A>T (p.Gly2394=) c.7104A>T (p.Gly2368=) | dbSNP |
| 22 | g.41178894C>A | CA411684692 | EP300 | c.7183C>A (p.Leu2395Ile) c.7105C>A (p.Leu2369Ile) | |
| 22 | g.41178894C= | CA2406118852 | EP300 | c.7183C= (p.Leu2395=) c.7105C= (p.Leu2369=) | |
| 22 | g.41178894C>G | CA411684693 | EP300 | c.7183C>G (p.Leu2395Val) c.7105C>G (p.Leu2369Val) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178894C>T | CA10254056 | EP300 | c.7183C>T (p.Leu2395Phe) c.7105C>T (p.Leu2369Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178895T>A | CA411684694 | EP300 | c.7184T>A (p.Leu2395His) c.7106T>A (p.Leu2369His) | dbSNP |
| 22 | g.41178895T>C | CA10254057 | EP300 | c.7184T>C (p.Leu2395Pro) c.7106T>C (p.Leu2369Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178895T>G | CA411684695 | EP300 | c.7184T>G (p.Leu2395Arg) c.7106T>G (p.Leu2369Arg) | |
| 22 | g.41178895T= | CA2406118853 | EP300 | c.7184T= (p.Leu2395=) c.7106T= (p.Leu2369=) | |
| 22 | g.41178896C>A | CA514795183 | EP300 | c.7185C>A (p.Leu2395=) c.7107C>A (p.Leu2369=) | gnomAD v4 |
| 22 | g.41178896C= | CA2406118854 | EP300 | c.7185C= (p.Leu2395=) c.7107C= (p.Leu2369=) | |
| 22 | g.41178896C>G | CA10254058 | EP300 | c.7185C>G (p.Leu2395=) c.7107C>G (p.Leu2369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178896C>T | CA10254059 | EP300 | c.7185C>T (p.Leu2395=) c.7107C>T (p.Leu2369=) | dbSNP ExAC gnomAD v2 |
| 22 | g.41178897A= | CA2406118855 | EP300 | c.7186A= (p.Ser2396=) c.7108A= (p.Ser2370=) | |
| 22 | g.41178897A>C | CA411684696 | EP300 | c.7186A>C (p.Ser2396Arg) c.7108A>C (p.Ser2370Arg) | ClinVar |
| 22 | g.41178897A>G | CA10254060 | EP300 | c.7186A>G (p.Ser2396Gly) c.7108A>G (p.Ser2370Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178897A>T | CA411684697 | EP300 | c.7186A>T (p.Ser2396Cys) c.7108A>T (p.Ser2370Cys) | dbSNP |
| 22 | g.41178898G>A | CA411684699 | EP300 | c.7187G>A (p.Ser2396Asn) c.7109G>A (p.Ser2370Asn) | |
| 22 | g.41178898G>C | CA411684700 | EP300 | c.7187G>C (p.Ser2396Thr) c.7109G>C (p.Ser2370Thr) | gnomAD v4 |
| 22 | g.41178898G>T | CA411684698 | EP300 | c.7187G>T (p.Ser2396Ile) c.7109G>T (p.Ser2370Ile) | |
| 22 | g.41178899C>A | CA411684701 | EP300 | c.7188C>A (p.Ser2396Arg) c.7110C>A (p.Ser2370Arg) | gnomAD v4 |
| 22 | g.41178899C>G | CA411684702 | EP300 | c.7188C>G (p.Ser2396Arg) c.7110C>G (p.Ser2370Arg) | dbSNP |
| 22 | g.41178899C>T | CA514795190 | EP300 | c.7188C>T (p.Ser2396=) c.7110C>T (p.Ser2370=) | dbSNP |
| 22 | g.41178900A>C | CA411684703 | EP300 | c.7189A>C (p.Thr2397Pro) c.7111A>C (p.Thr2371Pro) | ClinVar dbSNP |
| 22 | g.41178900A>G | CA411684704 | EP300 | c.7189A>G (p.Thr2397Ala) c.7111A>G (p.Thr2371Ala) | gnomAD v4 |
| 22 | g.41178900A>T | CA411684705 | EP300 | c.7189A>T (p.Thr2397Ser) c.7111A>T (p.Thr2371Ser) | dbSNP |
| 22 | g.41178901C>A | CA411684708 | EP300 | c.7190C>A (p.Thr2397Asn) c.7112C>A (p.Thr2371Asn) | |
| 22 | g.41178901C>G | CA411684707 | EP300 | c.7190C>G (p.Thr2397Ser) c.7112C>G (p.Thr2371Ser) | dbSNP |
| 22 | g.41178901C>T | CA411684706 | EP300 | c.7190C>T (p.Thr2397Ile) c.7112C>T (p.Thr2371Ile) | |
| 22 | g.41178902C>A | CA514795195 | EP300 | c.7191C>A (p.Thr2397=) c.7113C>A (p.Thr2371=) | dbSNP |
| 22 | g.41178902C= | CA2406118856 | EP300 | c.7191C= (p.Thr2397=) c.7113C= (p.Thr2371=) | |
| 22 | g.41178902C>G | CA514795197 | EP300 | c.7191C>G (p.Thr2397=) c.7113C>G (p.Thr2371=) | dbSNP |
| 22 | g.41178902C>T | CA10254061 | EP300 | c.7191C>T (p.Thr2397=) c.7113C>T (p.Thr2371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178903G>A | CA10254062 | EP300 | c.7192G>A (p.Asp2398Asn) c.7114G>A (p.Asp2372Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.41178903G>C | CA411684709 | EP300 | c.7192G>C (p.Asp2398His) c.7114G>C (p.Asp2372His) | dbSNP |
| 22 | g.41178903G= | CA2406118857 | EP300 | c.7192G= (p.Asp2398=) c.7114G= (p.Asp2372=) | |
| 22 | g.41178903G>T | CA411684710 | EP300 | c.7192G>T (p.Asp2398Tyr) c.7114G>T (p.Asp2372Tyr) | dbSNP |
| 22 | g.41178904A= | CA2406118858 | EP300 | c.7193A= (p.Asp2398=) c.7115A= (p.Asp2372=) | |
| 22 | g.41178904A>C | CA411684711 | EP300 | c.7193A>C (p.Asp2398Ala) c.7115A>C (p.Asp2372Ala) | |
| 22 | g.41178904A>G | CA10254063 | EP300 | c.7193A>G (p.Asp2398Gly) c.7115A>G (p.Asp2372Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178904A>T | CA324520470 | EP300 | c.7193A>T (p.Asp2398Val) c.7115A>T (p.Asp2372Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178905T>A | CA411684712 | EP300 | c.7194T>A (p.Asp2398Glu) c.7116T>A (p.Asp2372Glu) | dbSNP |
| 22 | g.41178905T>C | CA514795205 | EP300 | c.7194T>C (p.Asp2398=) c.7116T>C (p.Asp2372=) | gnomAD v4 |
| 22 | g.41178905T>G | CA411684713 | EP300 | c.7194T>G (p.Asp2398Glu) c.7116T>G (p.Asp2372Glu) | dbSNP |
| 22 | g.41178906A= | CA2406118859 | EP300 | c.7195A= (p.Asn2399=) c.7117A= (p.Asn2373=) | |
| 22 | g.41178906A>C | CA411684714 | EP300 | c.7195A>C (p.Asn2399His) c.7117A>C (p.Asn2373His) | |
| 22 | g.41178906A>G | CA411684715 | EP300 | c.7195A>G (p.Asn2399Asp) c.7117A>G (p.Asn2373Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178906A>T | CA411684716 | EP300 | c.7195A>T (p.Asn2399Tyr) c.7117A>T (p.Asn2373Tyr) | |
| 22 | g.41178907A= | CA2406118860 | EP300 | c.7196A= (p.Asn2399=) c.7118A= (p.Asn2373=) | |
| 22 | g.41178907A>C | CA10254064 | EP300 | c.7196A>C (p.Asn2399Thr) c.7118A>C (p.Asn2373Thr) | dbSNP ExAC gnomAD v2 |
| 22 | g.41178907A>G | CA411684717 | EP300 | c.7196A>G (p.Asn2399Ser) c.7118A>G (p.Asn2373Ser) | dbSNP |
| 22 | g.41178907A>T | CA411684718 | EP300 | c.7196A>T (p.Asn2399Ile) c.7118A>T (p.Asn2373Ile) | dbSNP |
| 22 | g.41178908C>A | CA411684719 | EP300 | c.7197C>A (p.Asn2399Lys) c.7119C>A (p.Asn2373Lys) | |
| 22 | g.41178908C= | CA2406118861 | EP300 | c.7197C= (p.Asn2399=) c.7119C= (p.Asn2373=) | |
| 22 | g.41178908C>G | CA411684720 | EP300 | c.7197C>G (p.Asn2399Lys) c.7119C>G (p.Asn2373Lys) | dbSNP gnomAD v4 |
| 22 | g.41178908C>T | CA514795207 | EP300 | c.7197C>T (p.Asn2399=) c.7119C>T (p.Asn2373=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178909T>A | CA411684721 | EP300 | c.7198T>A (p.Ser2400Thr) c.7120T>A (p.Ser2374Thr) | dbSNP |
| 22 | g.41178909T>C | CA411684723 | EP300 | c.7198T>C (p.Ser2400Pro) c.7120T>C (p.Ser2374Pro) | dbSNP gnomAD v4 |
| 22 | g.41178909T>G | CA411684722 | EP300 | c.7198T>G (p.Ser2400Ala) c.7120T>G (p.Ser2374Ala) | |
| 22 | g.41178910C>A | CA411684724 | EP300 | c.7199C>A (p.Ser2400Ter) c.7121C>A (p.Ser2374Ter) | |
| 22 | g.41178910C>G | CA411684725 | EP300 | c.7199C>G (p.Ser2400Ter) c.7121C>G (p.Ser2374Ter) | dbSNP |
| 22 | g.41178910C>T | CA411684726 | EP300 | c.7199C>T (p.Ser2400Leu) c.7121C>T (p.Ser2374Leu) | |
| 22 | g.41178911A= | CA2406118862 | EP300 | c.7200A= (p.Ser2400=) c.7122A= (p.Ser2374=) | |
| 22 | g.41178911A>C | CA514795217 | EP300 | c.7200A>C (p.Ser2400=) c.7122A>C (p.Ser2374=) | |
| 22 | g.41178911A>G | CA10254065 | EP300 | c.7200A>G (p.Ser2400=) c.7122A>G (p.Ser2374=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178911A>T | CA514795216 | EP300 | c.7200A>T (p.Ser2400=) c.7122A>T (p.Ser2374=) | |
| 22 | g.41178912G>A | CA411684729 | EP300 | c.7201G>A (p.Asp2401Asn) c.7123G>A (p.Asp2375Asn) | dbSNP |
| 22 | g.41178912G>C | CA411684727 | EP300 | c.7201G>C (p.Asp2401His) c.7123G>C (p.Asp2375His) | dbSNP |
| 22 | g.41178912G>T | CA411684728 | EP300 | c.7201G>T (p.Asp2401Tyr) c.7123G>T (p.Asp2375Tyr) | |
| 22 | g.41178913A= | CA2406118863 | EP300 | c.7202A= (p.Asp2401=) c.7124A= (p.Asp2375=) | |
| 22 | g.41178913A>C | CA411684730 | EP300 | c.7202A>C (p.Asp2401Ala) c.7124A>C (p.Asp2375Ala) | |
| 22 | g.41178913A>G | CA10254066 | EP300 | c.7202A>G (p.Asp2401Gly) c.7124A>G (p.Asp2375Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178913A>T | CA411684731 | EP300 | c.7202A>T (p.Asp2401Val) c.7124A>T (p.Asp2375Val) | dbSNP |
| 22 | g.41178914C>A | CA411684732 | EP300 | c.7203C>A (p.Asp2401Glu) c.7125C>A (p.Asp2375Glu) | |
| 22 | g.41178914C= | CA2406118864 | EP300 | c.7203C= (p.Asp2401=) c.7125C= (p.Asp2375=) | |
| 22 | g.41178914C>G | CA411684733 | EP300 | c.7203C>G (p.Asp2401Glu) c.7125C>G (p.Asp2375Glu) | dbSNP |
| 22 | g.41178914C>T | CA514795223 | EP300 | c.7203C>T (p.Asp2401=) c.7125C>T (p.Asp2375=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178915T>A | CA411684734 | EP300 | c.7204T>A (p.Leu2402Met) c.7126T>A (p.Leu2376Met) | dbSNP |
| 22 | g.41178915T>C | CA514795226 | EP300 | c.7204T>C (p.Leu2402=) c.7126T>C (p.Leu2376=) | |
| 22 | g.41178915T>G | CA411684735 | EP300 | c.7204T>G (p.Leu2402Val) c.7126T>G (p.Leu2376Val) | |
| 22 | g.41178916T>A | CA411684736 | EP300 | c.7205T>A (p.Leu2402Ter) c.7127T>A (p.Leu2376Ter) | |
| 22 | g.41178916T>C | CA411684737 | EP300 | c.7205T>C (p.Leu2402Ser) c.7127T>C (p.Leu2376Ser) | dbSNP |
| 22 | g.41178916T>G | CA411684738 | EP300 | c.7205T>G (p.Leu2402Trp) c.7127T>G (p.Leu2376Trp) | |
| 22 | g.41178917G>A | CA10254067 | EP300 | c.7206G>A (p.Leu2402=) c.7128G>A (p.Leu2376=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178917G>C | CA411684739 | EP300 | c.7206G>C (p.Leu2402Phe) c.7128G>C (p.Leu2376Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178917G= | CA2406118865 | EP300 | c.7206G= (p.Leu2402=) c.7128G= (p.Leu2376=) | |
| 22 | g.41178917G>T | CA411684740 | EP300 | c.7206G>T (p.Leu2402Phe) c.7128G>T (p.Leu2376Phe) | dbSNP |
| 22 | g.41178918A>C | CA411684741 | EP300 | c.7207A>C (p.Asn2403His) c.7129A>C (p.Asn2377His) | |
| 22 | g.41178918A>G | CA411684743 | EP300 | c.7207A>G (p.Asn2403Asp) c.7129A>G (p.Asn2377Asp) | gnomAD v4 |
| 22 | g.41178918A>T | CA411684742 | EP300 | c.7207A>T (p.Asn2403Tyr) c.7129A>T (p.Asn2377Tyr) | dbSNP |
| 22 | g.41178918_41178930dup | CA2656912729 | EP300 | c.7207_7219dup (p.Ser2407Ter) c.7129_7141dup (p.Ser2381Ter) | gnomAD v4 |
| 22 | g.41178919A= | CA2406118866 | EP300 | c.7208A= (p.Asn2403=) c.7130A= (p.Asn2377=) | |
| 22 | g.41178919A>C | CA411684744 | EP300 | c.7208A>C (p.Asn2403Thr) c.7130A>C (p.Asn2377Thr) | gnomAD v4 |
| 22 | g.41178919A>G | CA411684745 | EP300 | c.7208A>G (p.Asn2403Ser) c.7130A>G (p.Asn2377Ser) | dbSNP |
| 22 | g.41178919A>T | CA411684746 | EP300 | c.7208A>T (p.Asn2403Ile) c.7130A>T (p.Asn2377Ile) | dbSNP |
| 22 | g.41178920T>A | CA411684747 | EP300 | c.7209T>A (p.Asn2403Lys) c.7131T>A (p.Asn2377Lys) | dbSNP |
| 22 | g.41178920T>C | CA10254068 | EP300 | c.7209T>C (p.Asn2403=) c.7131T>C (p.Asn2377=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178920T>G | CA411684748 | EP300 | c.7209T>G (p.Asn2403Lys) c.7131T>G (p.Asn2377Lys) | gnomAD v4 |
| 22 | g.41178920T= | CA2406118867 | EP300 | c.7209T= (p.Asn2403=) c.7131T= (p.Asn2377=) | |
| 22 | g.41178921T>A | CA411684749 | EP300 | c.7210T>A (p.Ser2404Thr) c.7132T>A (p.Ser2378Thr) | dbSNP |
| 22 | g.41178921T>C | CA411684750 | EP300 | c.7210T>C (p.Ser2404Pro) c.7132T>C (p.Ser2378Pro) | |
| 22 | g.41178921T>G | CA411684751 | EP300 | c.7210T>G (p.Ser2404Ala) c.7132T>G (p.Ser2378Ala) | dbSNP |
| 22 | g.41178921T= | CA2406118868 | EP300 | c.7210T= (p.Ser2404=) c.7132T= (p.Ser2378=) | |
| 22 | g.41178922C>A | CA411684752 | EP300 | c.7211C>A (p.Ser2404Ter) c.7133C>A (p.Ser2378Ter) | dbSNP |
| 22 | g.41178922C= | CA2406118869 | EP300 | c.7211C= (p.Ser2404=) c.7133C= (p.Ser2378=) | |
| 22 | g.41178922C>G | CA411684753 | EP300 | c.7211C>G (p.Ser2404Ter) c.7133C>G (p.Ser2378Ter) | |
| 22 | g.41178922C>T | CA411684754 | EP300 | c.7211C>T (p.Ser2404Leu) c.7133C>T (p.Ser2378Leu) | dbSNP |
| 22 | g.41178923A= | CA2406118870 | EP300 | c.7212A= (p.Ser2404=) c.7134A= (p.Ser2378=) | |
| 22 | g.41178923A>C | CA514795242 | EP300 | c.7212A>C (p.Ser2404=) c.7134A>C (p.Ser2378=) | |
| 22 | g.41178923A>G | CA514795235 | EP300 | c.7212A>G (p.Ser2404=) c.7134A>G (p.Ser2378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178923A>T | CA514795239 | EP300 | c.7212A>T (p.Ser2404=) c.7134A>T (p.Ser2378=) | |
| 22 | g.41178923_41178937dup | CA2656912735 | EP300 | c.7212_7226dup (p.Gln2408_Ser2409insArgAsnLeuSerGln) c.7134_7148dup (p.Gln2382_Ser2383insArgAsnLeuSerGln) | gnomAD v4 |
| 22 | g.41178924A= | CA2406118871 | EP300 | c.7213A= (p.Asn2405=) c.7135A= (p.Asn2379=) | |
| 22 | g.41178924A>C | CA411684756 | EP300 | c.7213A>C (p.Asn2405His) c.7135A>C (p.Asn2379His) | |
| 22 | g.41178924A>G | CA324520501 | EP300 | c.7213A>G (p.Asn2405Asp) c.7135A>G (p.Asn2379Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178924A>T | CA411684755 | EP300 | c.7213A>T (p.Asn2405Tyr) c.7135A>T (p.Asn2379Tyr) | dbSNP |
| 22 | g.41178925A>C | CA411684757 | EP300 | c.7214A>C (p.Asn2405Thr) c.7136A>C (p.Asn2379Thr) | dbSNP |
| 22 | g.41178925A>G | CA411684758 | EP300 | c.7214A>G (p.Asn2405Ser) c.7136A>G (p.Asn2379Ser) | dbSNP gnomAD v4 |
| 22 | g.41178925A>T | CA411684759 | EP300 | c.7214A>T (p.Asn2405Ile) c.7136A>T (p.Asn2379Ile) | dbSNP |
| 22 | g.41178926C>A | CA411684760 | EP300 | c.7215C>A (p.Asn2405Lys) c.7137C>A (p.Asn2379Lys) | |
| 22 | g.41178926C= | CA2406118872 | EP300 | c.7215C= (p.Asn2405=) c.7137C= (p.Asn2379=) | |
| 22 | g.41178926C>G | CA411684761 | EP300 | c.7215C>G (p.Asn2405Lys) c.7137C>G (p.Asn2379Lys) | gnomAD v4 |
| 22 | g.41178926C>T | CA10254069 | EP300 | c.7215C>T (p.Asn2405=) c.7137C>T (p.Asn2379=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.41178927C>A | CA411684762 | EP300 | c.7216C>A (p.Leu2406Ile) c.7138C>A (p.Leu2380Ile) | |
| 22 | g.41178927C= | CA2406118873 | EP300 | c.7216C= (p.Leu2406=) c.7138C= (p.Leu2380=) | |
| 22 | g.41178927C>G | CA411684763 | EP300 | c.7216C>G (p.Leu2406Val) c.7138C>G (p.Leu2380Val) | gnomAD v4 |
| 22 | g.41178927C>T | CA411684764 | EP300 | c.7216C>T (p.Leu2406Phe) c.7138C>T (p.Leu2380Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178928T>A | CA411684765 | EP300 | c.7217T>A (p.Leu2406His) c.7139T>A (p.Leu2380His) | dbSNP |
| 22 | g.41178928T>C | CA10254070 | EP300 | c.7217T>C (p.Leu2406Pro) c.7139T>C (p.Leu2380Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.41178928T>G | CA411684766 | EP300 | c.7217T>G (p.Leu2406Arg) c.7139T>G (p.Leu2380Arg) | |
| 22 | g.41178928T= | CA2406118874 | EP300 | c.7217T= (p.Leu2406=) c.7139T= (p.Leu2380=) | |
| 22 | g.41178929C>A | CA514795252 | EP300 | c.7218C>A (p.Leu2406=) c.7140C>A (p.Leu2380=) | dbSNP |
| 22 | g.41178929C= | CA2406118875 | EP300 | c.7218C= (p.Leu2406=) c.7140C= (p.Leu2380=) | |
| 22 | g.41178929C>G | CA514795253 | EP300 | c.7218C>G (p.Leu2406=) c.7140C>G (p.Leu2380=) | dbSNP |
| 22 | g.41178929C>T | CA514795257 | EP300 | c.7218C>T (p.Leu2406=) c.7140C>T (p.Leu2380=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178930T>A | CA411684767 | EP300 | c.7219T>A (p.Ser2407Thr) c.7141T>A (p.Ser2381Thr) | dbSNP |
| 22 | g.41178930T>C | CA411684769 | EP300 | c.7219T>C (p.Ser2407Pro) c.7141T>C (p.Ser2381Pro) | COSMIC |
| 22 | g.41178930T>G | CA411684768 | EP300 | c.7219T>G (p.Ser2407Ala) c.7141T>G (p.Ser2381Ala) | |
| 22 | g.41178930_41178932delinsTCA | CA2406118876 | EP300 | c.7219_7221delinsTCA (p.Ser2407=) c.7141_7143delinsTCA (p.Ser2381=) | |
| 22 | g.41178931C>A | CA411684770 | EP300 | c.7220C>A (p.Ser2407Ter) c.7142C>A (p.Ser2381Ter) | |
| 22 | g.41178931C= | CA2406118877 | EP300 | c.7220C= (p.Ser2407=) c.7142C= (p.Ser2381=) | |
| 22 | g.41178931C>G | CA411684771 | EP300 | c.7220C>G (p.Ser2407Ter) c.7142C>G (p.Ser2381Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178931C>T | CA411684772 | EP300 | c.7220C>T (p.Ser2407Leu) c.7142C>T (p.Ser2381Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178933_41178934del | CA16044144 | EP300 | c.7222_7223del (p.Gln2408GlufsTer?) c.7144_7145del (p.Gln2382GlufsTer?) | ClinVar dbSNP |
| 22 | g.41178932A= | CA2406118878 | EP300 | c.7221A= (p.Ser2407=) c.7143A= (p.Ser2381=) | |
| 22 | g.41178932A>C | CA514795263 | EP300 | c.7221A>C (p.Ser2407=) c.7143A>C (p.Ser2381=) | gnomAD v4 |
| 22 | g.41178932A>G | CA514795264 | EP300 | c.7221A>G (p.Ser2407=) c.7143A>G (p.Ser2381=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178932A>T | CA324520504 | EP300 | c.7221A>T (p.Ser2407=) c.7143A>T (p.Ser2381=) | dbSNP gnomAD v4 |
| 22 | g.41178933C>A | CA411684773 | EP300 | c.7222C>A (p.Gln2408Lys) c.7144C>A (p.Gln2382Lys) | |
| 22 | g.41178933C= | CA2406118879 | EP300 | c.7222C= (p.Gln2408=) c.7144C= (p.Gln2382=) | |
| 22 | g.41178933C>G | CA411684774 | EP300 | c.7222C>G (p.Gln2408Glu) c.7144C>G (p.Gln2382Glu) | dbSNP |
| 22 | g.41178933C>T | CA411684775 | EP300 | c.7222C>T (p.Gln2408Ter) c.7144C>T (p.Gln2382Ter) | |
| 22 | g.41178934A>C | CA411684776 | EP300 | c.7223A>C (p.Gln2408Pro) c.7145A>C (p.Gln2382Pro) | |
| 22 | g.41178934A>G | CA411684777 | EP300 | c.7223A>G (p.Gln2408Arg) c.7145A>G (p.Gln2382Arg) | ClinVar dbSNP |
| 22 | g.41178934A>T | CA411684778 | EP300 | c.7223A>T (p.Gln2408Leu) c.7145A>T (p.Gln2382Leu) | |
| 22 | g.41178935G>A | CA514795268 | EP300 | c.7224G>A (p.Gln2408=) c.7146G>A (p.Gln2382=) | dbSNP gnomAD v4 |
| 22 | g.41178935G>C | CA411684779 | EP300 | c.7224G>C (p.Gln2408His) c.7146G>C (p.Gln2382His) | dbSNP gnomAD v4 |
| 22 | g.41178935G>T | CA411684780 | EP300 | c.7224G>T (p.Gln2408His) c.7146G>T (p.Gln2382His) | |
| 22 | g.41178936A= | CA2406118880 | EP300 | c.7225A= (p.Ser2409=) c.7147A= (p.Ser2383=) | |
| 22 | g.41178936A>C | CA411684781 | EP300 | c.7225A>C (p.Ser2409Arg) c.7147A>C (p.Ser2383Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178936A>G | CA10254071 | EP300 | c.7225A>G (p.Ser2409Gly) c.7147A>G (p.Ser2383Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178936A>T | CA411684782 | EP300 | c.7225A>T (p.Ser2409Cys) c.7147A>T (p.Ser2383Cys) | |
| 22 | g.41178937G>A | CA411684785 | EP300 | c.7226G>A (p.Ser2409Asn) c.7148G>A (p.Ser2383Asn) | |
| 22 | g.41178937G>C | CA411684784 | EP300 | c.7226G>C (p.Ser2409Thr) c.7148G>C (p.Ser2383Thr) | gnomAD v4 |
| 22 | g.41178937G>T | CA411684783 | EP300 | c.7226G>T (p.Ser2409Ile) c.7148G>T (p.Ser2383Ile) | |
| 22 | g.41178937_41178948delinsGTACACTAGACA | CA2406118881 | EP300 | c.7226_7237delinsGTACACTAGACA (p.Ser2409=) c.7148_7159delinsGTACACTAGACA (p.Ser2383=) | |
| 22 | g.41178938T>A | CA411684786 | EP300 | c.7227T>A (p.Ser2409Arg) c.7149T>A (p.Ser2383Arg) | dbSNP |
| 22 | g.41178938T>C | CA514795275 | EP300 | c.7227T>C (p.Ser2409=) c.7149T>C (p.Ser2383=) | |
| 22 | g.41178938T>G | CA411684787 | EP300 | c.7227T>G (p.Ser2409Arg) c.7149T>G (p.Ser2383Arg) | dbSNP |
| 22 | g.41178947_41178957del | CA2406118882 | EP300 | c.7236_*1del (n.[c.7236_*1del;Asp2412GlufsTer?]) c.7158_7168del (n.[c.7158_7168del;Asp2386GlufsTer?]) c.7158_*1del (n.[c.7158_*1del;Asp2386GlufsTer?]) | dbSNP |
| 22 | g.41178939A>C | CA411684788 | EP300 | c.7228A>C (p.Thr2410Pro) c.7150A>C (p.Thr2384Pro) | |
| 22 | g.41178939A>G | CA411684789 | EP300 | c.7228A>G (p.Thr2410Ala) c.7150A>G (p.Thr2384Ala) | dbSNP |
| 22 | g.41178939A>T | CA411684790 | EP300 | c.7228A>T (p.Thr2410Ser) c.7150A>T (p.Thr2384Ser) | |
| 22 | g.41178940C>A | CA411684791 | EP300 | c.7229C>A (p.Thr2410Lys) c.7151C>A (p.Thr2384Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178940C= | CA2406118883 | EP300 | c.7229C= (p.Thr2410=) c.7151C= (p.Thr2384=) | |
| 22 | g.41178940C>G | CA411684792 | EP300 | c.7229C>G (p.Thr2410Arg) c.7151C>G (p.Thr2384Arg) | dbSNP |
| 22 | g.41178940C>T | CA411684793 | EP300 | c.7229C>T (p.Thr2410Ile) c.7151C>T (p.Thr2384Ile) | dbSNP |
| 22 | g.41178940_41178951del | CA2577729364 | EP300 | c.7229_7240del (p.Thr2410_His2414delinsAsn) c.7151_7162del (p.Thr2384_His2388delinsAsn) | |
| 22 | g.41178941A= | CA2406118884 | EP300 | c.7230A= (p.Thr2410=) c.7152A= (p.Thr2384=) | |
| 22 | g.41178941A>C | CA514794694 | EP300 | c.7230A>C (p.Thr2410=) c.7152A>C (p.Thr2384=) | dbSNP gnomAD v4 |
| 22 | g.41178941A>G | CA514794695 | EP300 | c.7230A>G (p.Thr2410=) c.7152A>G (p.Thr2384=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178941A>T | CA514794696 | EP300 | c.7230A>T (p.Thr2410=) c.7152A>T (p.Thr2384=) | |
| 22 | g.41178942C>A | CA411684794 | EP300 | c.7231C>A (p.Leu2411Ile) c.7153C>A (p.Leu2385Ile) | dbSNP |
| 22 | g.41178942C= | CA2406118885 | EP300 | c.7231C= (p.Leu2411=) c.7153C= (p.Leu2385=) | |
| 22 | g.41178942C>G | CA324520508 | EP300 | c.7231C>G (p.Leu2411Val) c.7153C>G (p.Leu2385Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178942C>T | CA514794697 | EP300 | c.7231C>T (p.Leu2411=) c.7153C>T (p.Leu2385=) | dbSNP gnomAD v4 |