Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.41178814_41178835dup | CA2656912656 | EP300 | c.7103_7124dup (p.Leu2376ProfsTer10) c.7025_7046dup (p.Leu2350ProfsTer10) | gnomAD v4 |
22 | g.41178833T>A | CA514795059 | EP300 | c.7122T>A (p.Ser2374=) c.7044T>A (p.Ser2348=) | |
22 | g.41178833T>C | CA514795060 | EP300 | c.7122T>C (p.Ser2374=) c.7044T>C (p.Ser2348=) | gnomAD v4 |
22 | g.41178833T>G | CA514795061 | EP300 | c.7122T>G (p.Ser2374=) c.7044T>G (p.Ser2348=) | |
22 | g.41178834C>A | CA411684487 | EP300 | c.7123C>A (p.Gln2375Lys) c.7045C>A (p.Gln2349Lys) | |
22 | g.41178834C>G | CA411684485 | EP300 | c.7123C>G (p.Gln2375Glu) c.7045C>G (p.Gln2349Glu) | dbSNP |
22 | g.41178834C>T | CA411684483 | EP300 | c.7123C>T (p.Gln2375Ter) c.7045C>T (p.Gln2349Ter) | dbSNP |
22 | g.41178835A>C | CA411684489 | EP300 | c.7124A>C (p.Gln2375Pro) c.7046A>C (p.Gln2349Pro) | gnomAD v4 |
22 | g.41178835A>G | CA411684491 | EP300 | c.7124A>G (p.Gln2375Arg) c.7046A>G (p.Gln2349Arg) | dbSNP |
22 | g.41178835A>T | CA411684492 | EP300 | c.7124A>T (p.Gln2375Leu) c.7046A>T (p.Gln2349Leu) | dbSNP |
22 | g.41178836G>A | CA514795065 | EP300 | c.7125G>A (p.Gln2375=) c.7047G>A (p.Gln2349=) | gnomAD v4 |
22 | g.41178836G>C | CA324520359 | EP300 | c.7125G>C (p.Gln2375His) c.7047G>C (p.Gln2349His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.41178836G= | CA2406118813 | EP300 | c.7125G= (p.Gln2375=) c.7047G= (p.Gln2349=) | |
22 | g.41178836G>T | CA411684494 | EP300 | c.7125G>T (p.Gln2375His) c.7047G>T (p.Gln2349His) | |
22 | g.41178837C>A | CA411684497 | EP300 | c.7126C>A (p.Leu2376Ile) c.7048C>A (p.Leu2350Ile) | COSMIC |
22 | g.41178837C= | CA2406118814 | EP300 | c.7126C= (p.Leu2376=) c.7048C= (p.Leu2350=) | |
22 | g.41178837C>G | CA411684498 | EP300 | c.7126C>G (p.Leu2376Val) c.7048C>G (p.Leu2350Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.41178837C>T | CA411684502 | EP300 | c.7126C>T (p.Leu2376Phe) c.7048C>T (p.Leu2350Phe) | dbSNP |
22 | g.41178838T>A | CA411684503 | EP300 | c.7127T>A (p.Leu2376His) c.7049T>A (p.Leu2350His) | dbSNP |
22 | g.41178838T>C | CA10254037 | EP300 | c.7127T>C (p.Leu2376Pro) c.7049T>C (p.Leu2350Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41178838T>G | CA411684506 | EP300 | c.7127T>G (p.Leu2376Arg) c.7049T>G (p.Leu2350Arg) | |
22 | g.41178838T= | CA2406118815 | EP300 | c.7127T= (p.Leu2376=) c.7049T= (p.Leu2350=) | |
22 | g.41178839T>A | CA514795071 | EP300 | c.7128T>A (p.Leu2376=) c.7050T>A (p.Leu2350=) | gnomAD v4 |
22 | g.41178839T>C | CA514795069 | EP300 | c.7128T>C (p.Leu2376=) c.7050T>C (p.Leu2350=) | gnomAD v4 |
22 | g.41178839T>G | CA514795070 | EP300 | c.7128T>G (p.Leu2376=) c.7050T>G (p.Leu2350=) | |
22 | g.41178840G>A | CA411684511 | EP300 | c.7129G>A (p.Ala2377Thr) c.7051G>A (p.Ala2351Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41178840G>C | CA411684510 | EP300 | c.7129G>C (p.Ala2377Pro) c.7051G>C (p.Ala2351Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.41178840G= | CA2406118816 | EP300 | c.7129G= (p.Ala2377=) c.7051G= (p.Ala2351=) | |
22 | g.41178840G>T | CA411684508 | EP300 | c.7129G>T (p.Ala2377Ser) c.7051G>T (p.Ala2351Ser) | |
22 | g.41178841C>A | CA411684513 | EP300 | c.7130C>A (p.Ala2377Asp) c.7052C>A (p.Ala2351Asp) | |
22 | g.41178841C>G | CA411684514 | EP300 | c.7130C>G (p.Ala2377Gly) c.7052C>G (p.Ala2351Gly) | dbSNP |
22 | g.41178841C>T | CA411684515 | EP300 | c.7130C>T (p.Ala2377Val) c.7052C>T (p.Ala2351Val) | dbSNP gnomAD v4 |
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 |