Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.41093074_41093075del | CA645509367 | EP300 | c.70_71del (p.Ser24GlyfsTer14) | ClinVar dbSNP |
22 | g.41093074T>A | CA411679495 | EP300 | c.70T>A (p.Ser24Thr) | dbSNP |
22 | g.41093074T>C | CA411679493 | EP300 | c.70T>C (p.Ser24Pro) | dbSNP |
22 | g.41093074T>G | CA411679494 | EP300 | c.70T>G (p.Ser24Ala) | |
22 | g.41093074T= | CA2406071128 | EP300 | c.70T= (p.Ser24=) | |
22 | g.41093075C>A | CA411679496 | EP300 | c.71C>A (p.Ser24Ter) | dbSNP |
22 | g.41093075C= | CA2406071129 | EP300 | c.71C= (p.Ser24=) | |
22 | g.41093075C>G | CA411679497 | EP300 | c.71C>G (p.Ser24Trp) | dbSNP |
22 | g.41093075C>T | CA10252153 | EP300 | c.71C>T (p.Ser24Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41093076G>A | CA514632131 | EP300 | c.72G>A (p.Ser24=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41093076G>C | CA514632129 | EP300 | c.72G>C (p.Ser24=) | dbSNP gnomAD v4 |
22 | g.41093076G= | CA2406071130 | EP300 | c.72G= (p.Ser24=) | |
22 | g.41093076G>T | CA514632130 | EP300 | c.72G>T (p.Ser24=) | dbSNP |
22 | g.41093077G>A | CA16040200 | EP300 | c.73G>A (p.Ala25Thr) | dbSNP |
22 | g.41093077G>C | CA10252154 | EP300 | c.73G>C (p.Ala25Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41093077G= | CA2406071131 | EP300 | c.73G= (p.Ala25=) | |
22 | g.41093077G>T | CA411679498 | EP300 | c.73G>T (p.Ala25Ser) | dbSNP |
22 | g.41093078C>A | CA411679499 | EP300 | c.74C>A (p.Ala25Glu) | |
22 | g.41093078C>G | CA411679500 | EP300 | c.74C>G (p.Ala25Gly) | dbSNP |
22 | g.41093078C>T | CA411679501 | EP300 | c.74C>T (p.Ala25Val) | dbSNP gnomAD v4 |
22 | g.41093079G>A | CA514632135 | EP300 | c.75G>A (p.Ala25=) | ClinVar dbSNP gnomAD v4 |
22 | g.41093079G>C | CA514632136 | EP300 | c.75G>C (p.Ala25=) | dbSNP |
22 | g.41093079G= | CA2406071132 | EP300 | c.75G= (p.Ala25=) | |
22 | g.41093079G>T | CA514632137 | EP300 | c.75G>T (p.Ala25=) | dbSNP |
22 | g.41093080T>A | CA411679502 | EP300 | c.76T>A (p.Ser26Thr) | dbSNP |
22 | g.41093080T>C | CA411679503 | EP300 | c.76T>C (p.Ser26Pro) | dbSNP |
22 | g.41093080T>G | CA411679504 | EP300 | c.76T>G (p.Ser26Ala) | dbSNP |
22 | g.41093081C>A | CA411679505 | EP300 | c.77C>A (p.Ser26Tyr) | dbSNP |
22 | g.41093081C>G | CA411679507 | EP300 | c.77C>G (p.Ser26Cys) | dbSNP |
22 | g.41093081C>T | CA411679506 | EP300 | c.77C>T (p.Ser26Phe) | dbSNP |
22 | g.41093082C>A | CA514632140 | EP300 | c.78C>A (p.Ser26=) | dbSNP gnomAD v4 |
22 | g.41093082C= | CA2406071133 | EP300 | c.78C= (p.Ser26=) | |
22 | g.41093082C>G | CA10252155 | EP300 | c.78C>G (p.Ser26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41093082C>T | CA514632139 | EP300 | c.78C>T (p.Ser26=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41093083G>A | CA10252156 | EP300 | c.79G>A (p.Ala27Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41093083G>C | CA324525164 | EP300 | c.79G>C (p.Ala27Pro) | dbSNP |
22 | g.41093083G= | CA2406071134 | EP300 | c.79G= (p.Ala27=) | |
22 | g.41093083G>T | CA411679508 | EP300 | c.79G>T (p.Ala27Ser) | |
22 | g.41093084C>A | CA411679509 | EP300 | c.80C>A (p.Ala27Asp) | dbSNP |
22 | g.41093084C= | CA2406071135 | EP300 | c.80C= (p.Ala27=) | |
22 | g.41093084C>G | CA411679510 | EP300 | c.80C>G (p.Ala27Gly) | dbSNP |
22 | g.41093084C>T | CA10252157 | EP300 | c.80C>T (p.Ala27Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41093085del | CA2737940488 | EP300 | c.81del (p.Ser28AlafsTer20) | dbSNP |
22 | g.41093085C>A | CA514632142 | EP300 | c.81C>A (p.Ala27=) | dbSNP gnomAD v4 |
22 | g.41093085C>G | CA514632143 | EP300 | c.81C>G (p.Ala27=) | |
22 | g.41093085C>T | CA514632141 | EP300 | c.81C>T (p.Ala27=) | gnomAD v4 |
22 | g.41093086A= | CA2406071136 | EP300 | c.82A= (p.Ser28=) | |
22 | g.41093086A>C | CA411679511 | EP300 | c.82A>C (p.Ser28Arg) | dbSNP |
22 | g.41093086A>G | CA10252158 | EP300 | c.82A>G (p.Ser28Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41093086A>T | CA411679512 | EP300 | c.82A>T (p.Ser28Cys) | dbSNP |