Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.41160645_41162782del | CA645616451 | EP300 | c.*1514_*1648+3del c.3594_3728+3del c.3516_3650+3del | COSMIC |
22 | g.41160700G>A | CA411696538 | EP300 | c.*1569G>A (n.*1569G>A) c.3649G>A (p.Asp1217Asn) c.3571G>A (p.Asp1191Asn) | ClinVar dbSNP |
22 | g.41160700G>C | CA411696541 | EP300 | c.*1569G>C (n.*1569G>C) c.3649G>C (p.Asp1217His) c.3571G>C (p.Asp1191His) | dbSNP |
22 | g.41160700G= | CA2406108634 | EP300 | c.*1569G= (n.*1569G=) c.3649G= (p.Asp1217=) c.3571G= (p.Asp1191=) | |
22 | g.41160700G>T | CA411696543 | EP300 | c.*1569G>T (n.*1569G>T) c.3649G>T (p.Asp1217Tyr) c.3571G>T (p.Asp1191Tyr) | dbSNP |
22 | g.41160701A>C | CA411696546 | EP300 | c.*1570A>C (n.*1570A>C) c.3650A>C (p.Asp1217Ala) c.3572A>C (p.Asp1191Ala) | |
22 | g.41160701A>G | CA411696548 | EP300 | c.*1570A>G (n.*1570A>G) c.3650A>G (p.Asp1217Gly) c.3572A>G (p.Asp1191Gly) | dbSNP |
22 | g.41160701A>T | CA411696551 | EP300 | c.*1570A>T (n.*1570A>T) c.3650A>T (p.Asp1217Val) c.3572A>T (p.Asp1191Val) | dbSNP |
22 | g.41160701dup | CA2695230901 | EP300 | c.*1570dup (n.*1570dup) c.3650dup (p.Asp1217GlufsTer2) c.3572dup (p.Asp1191GlufsTer2) | |
22 | g.41160702T>A | CA411696555 | EP300 | c.*1571T>A (n.*1571T>A) c.3651T>A (p.Asp1217Glu) c.3573T>A (p.Asp1191Glu) | dbSNP gnomAD v4 |
22 | g.41160702T>C | CA514646410 | EP300 | c.*1571T>C (n.*1571T>C) c.3651T>C (p.Asp1217=) c.3573T>C (p.Asp1191=) | dbSNP |
22 | g.41160702T>G | CA411696556 | EP300 | c.*1571T>G (n.*1571T>G) c.3651T>G (p.Asp1217Glu) c.3573T>G (p.Asp1191Glu) | dbSNP |
22 | g.41160703G>A | CA411696558 | EP300 | c.*1572G>A (n.*1572G>A) c.3652G>A (p.Asp1218Asn) c.3574G>A (p.Asp1192Asn) | dbSNP |
22 | g.41160703G>C | CA411696560 | EP300 | c.*1572G>C (n.*1572G>C) c.3652G>C (p.Asp1218His) c.3574G>C (p.Asp1192His) | dbSNP |
22 | g.41160703G>T | CA411696562 | EP300 | c.*1572G>T (n.*1572G>T) c.3652G>T (p.Asp1218Tyr) c.3574G>T (p.Asp1192Tyr) | |
22 | g.41160704A= | CA2406108635 | EP300 | c.*1573A= (n.*1573A=) c.3653A= (p.Asp1218=) c.3575A= (p.Asp1192=) | |
22 | g.41160704A>C | CA411696567 | EP300 | c.*1573A>C (n.*1573A>C) c.3653A>C (p.Asp1218Ala) c.3575A>C (p.Asp1192Ala) | dbSNP |
22 | g.41160704A>G | CA411696570 | EP300 | c.*1573A>G (n.*1573A>G) c.3653A>G (p.Asp1218Gly) c.3575A>G (p.Asp1192Gly) | dbSNP |
22 | g.41160704A>T | CA411696564 | EP300 | c.*1573A>T (n.*1573A>T) c.3653A>T (p.Asp1218Val) c.3575A>T (p.Asp1192Val) | dbSNP |
22 | g.41160705C>A | CA411696573 | EP300 | c.*1574C>A (n.*1574C>A) c.3654C>A (p.Asp1218Glu) c.3576C>A (p.Asp1192Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160705C= | CA2406108636 | EP300 | c.*1574C= (n.*1574C=) c.3654C= (p.Asp1218=) c.3576C= (p.Asp1192=) | |
22 | g.41160705C>G | CA411696575 | EP300 | c.*1574C>G (n.*1574C>G) c.3654C>G (p.Asp1218Glu) c.3576C>G (p.Asp1192Glu) | dbSNP |
22 | g.41160705C>T | CA514646414 | EP300 | c.*1574C>T (n.*1574C>T) c.3654C>T (p.Asp1218=) c.3576C>T (p.Asp1192=) | dbSNP gnomAD v4 |
22 | g.41160706C>A | CA411696578 | EP300 | c.*1575C>A (n.*1575C>A) c.3655C>A (p.Pro1219Thr) c.3577C>A (p.Pro1193Thr) | dbSNP |
22 | g.41160706C= | CA2406108637 | EP300 | c.*1575C= (n.*1575C=) c.3655C= (p.Pro1219=) c.3577C= (p.Pro1193=) | |
22 | g.41160706C>G | CA411696581 | EP300 | c.*1575C>G (n.*1575C>G) c.3655C>G (p.Pro1219Ala) c.3577C>G (p.Pro1193Ala) | dbSNP |
22 | g.41160706C>T | CA411696583 | EP300 | c.*1575C>T (n.*1575C>T) c.3655C>T (p.Pro1219Ser) c.3577C>T (p.Pro1193Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160707C>A | CA411696585 | EP300 | c.*1576C>A (n.*1576C>A) c.3656C>A (p.Pro1219His) c.3578C>A (p.Pro1193His) | dbSNP |
22 | g.41160707C>G | CA411696588 | EP300 | c.*1576C>G (n.*1576C>G) c.3656C>G (p.Pro1219Arg) c.3578C>G (p.Pro1193Arg) | dbSNP |
22 | g.41160707C>T | CA411696590 | EP300 | c.*1576C>T (n.*1576C>T) c.3656C>T (p.Pro1219Leu) c.3578C>T (p.Pro1193Leu) | dbSNP |
22 | g.41160708T>A | CA514646421 | EP300 | c.*1577T>A (n.*1577T>A) c.3657T>A (p.Pro1219=) c.3579T>A (p.Pro1193=) | dbSNP |
22 | g.41160708T>C | CA514646416 | EP300 | c.*1577T>C (n.*1577T>C) c.3657T>C (p.Pro1219=) c.3579T>C (p.Pro1193=) | dbSNP |
22 | g.41160708T>G | CA514646418 | EP300 | c.*1577T>G (n.*1577T>G) c.3657T>G (p.Pro1219=) c.3579T>G (p.Pro1193=) | |
22 | g.41160709T>A | CA411696592 | EP300 | c.*1578T>A (n.*1578T>A) c.3658T>A (p.Ser1220Thr) c.3580T>A (p.Ser1194Thr) | |
22 | g.41160709T>C | CA10253175 | EP300 | c.*1578T>C (n.*1578T>C) c.3658T>C (p.Ser1220Pro) c.3580T>C (p.Ser1194Pro) | dbSNP ExAC gnomAD v2 |
22 | g.41160709T>G | CA411696598 | EP300 | c.*1578T>G (n.*1578T>G) c.3658T>G (p.Ser1220Ala) c.3580T>G (p.Ser1194Ala) | |
22 | g.41160709T= | CA2406108638 | EP300 | c.*1578T= (n.*1578T=) c.3658T= (p.Ser1220=) c.3580T= (p.Ser1194=) | |
22 | g.41160710C>A | CA411696600 | EP300 | c.*1579C>A (n.*1579C>A) c.3659C>A (p.Ser1220Tyr) c.3581C>A (p.Ser1194Tyr) | dbSNP |
22 | g.41160710C= | CA2406108639 | EP300 | c.*1579C= (n.*1579C=) c.3659C= (p.Ser1220=) c.3581C= (p.Ser1194=) | |
22 | g.41160710C>G | CA411696603 | EP300 | c.*1579C>G (n.*1579C>G) c.3659C>G (p.Ser1220Cys) c.3581C>G (p.Ser1194Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.41160710C>T | CA411696606 | EP300 | c.*1579C>T (n.*1579C>T) c.3659C>T (p.Ser1220Phe) c.3581C>T (p.Ser1194Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160712del | CA658793930 | EP300 | c.*1581del (n.*1581del) c.3661del (p.Gln1221SerfsTer6) c.3583del (p.Gln1195SerfsTer6) | |
22 | g.41160711C>A | CA514646422 | EP300 | c.*1580C>A (n.*1580C>A) c.3660C>A (p.Ser1220=) c.3582C>A (p.Ser1194=) | dbSNP |
22 | g.41160711C= | CA2406108640 | EP300 | c.*1580C= (n.*1580C=) c.3660C= (p.Ser1220=) c.3582C= (p.Ser1194=) | |
22 | g.41160711C>G | CA514646423 | EP300 | c.*1580C>G (n.*1580C>G) c.3660C>G (p.Ser1220=) c.3582C>G (p.Ser1194=) | dbSNP |
22 | g.41160711C>T | CA514646424 | EP300 | c.*1580C>T (n.*1580C>T) c.3660C>T (p.Ser1220=) c.3582C>T (p.Ser1194=) | dbSNP |
22 | g.41160712C>A | CA411696614 | EP300 | c.*1581C>A (n.*1581C>A) c.3661C>A (p.Gln1221Lys) c.3583C>A (p.Gln1195Lys) | |
22 | g.41160712C>G | CA411696612 | EP300 | c.*1581C>G (n.*1581C>G) c.3661C>G (p.Gln1221Glu) c.3583C>G (p.Gln1195Glu) | |
22 | g.41160712C>T | CA411696609 | EP300 | c.*1581C>T (n.*1581C>T) c.3661C>T (p.Gln1221Ter) c.3583C>T (p.Gln1195Ter) | dbSNP |
22 | g.41160713A>C | CA411696618 | EP300 | c.*1582A>C (n.*1582A>C) c.3662A>C (p.Gln1221Pro) c.3584A>C (p.Gln1195Pro) |