Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127396532_127396778del | CA915940372 | MEGF10 | c.413_659del (p.Cys139ValfsTer?) c.578_824del (p.Cys194ValfsTer?) | ClinVar |
5 | g.127396644C>A | CA446491020 | MEGF10 | c.525C>A (p.Gly175=) c.690C>A (p.Gly230=) | dbSNP |
5 | g.127396644C= | CA1580839414 | MEGF10 | c.525C= (p.Gly175=) c.690C= (p.Gly230=) | |
5 | g.127396644C>G | CA446491021 | MEGF10 | c.525C>G (p.Gly175=) c.690C>G (p.Gly230=) | |
5 | g.127396644C>T | CA446491022 | MEGF10 | c.525C>T (p.Gly175=) c.690C>T (p.Gly230=) | |
5 | g.127396645T>A | CA360718433 | MEGF10 | c.526T>A (p.Trp176Arg) c.691T>A (p.Trp231Arg) | |
5 | g.127396645T>C | CA360718435 | MEGF10 | c.526T>C (p.Trp176Arg) c.691T>C (p.Trp231Arg) | |
5 | g.127396645T>G | CA360718438 | MEGF10 | c.526T>G (p.Trp176Gly) c.691T>G (p.Trp231Gly) | |
5 | g.127396646G>A | CA360718441 | MEGF10 | c.527G>A (p.Trp176Ter) c.692G>A (p.Trp231Ter) | |
5 | g.127396646G>C | CA360718443 | MEGF10 | c.527G>C (p.Trp176Ser) c.692G>C (p.Trp231Ser) | |
5 | g.127396646G>T | CA360718445 | MEGF10 | c.527G>T (p.Trp176Leu) c.692G>T (p.Trp231Leu) | |
5 | g.127396647G>A | CA360718451 | MEGF10 | c.528G>A (p.Trp176Ter) c.693G>A (p.Trp231Ter) | COSMIC |
5 | g.127396647G>C | CA360718448 | MEGF10 | c.528G>C (p.Trp176Cys) c.693G>C (p.Trp231Cys) | |
5 | g.127396647G>T | CA360718449 | MEGF10 | c.528G>T (p.Trp176Cys) c.693G>T (p.Trp231Cys) | |
5 | g.127396648C>A | CA360718454 | MEGF10 | c.529C>A (p.Arg177Ser) c.694C>A (p.Arg232Ser) | |
5 | g.127396648C= | CA1580839415 | MEGF10 | c.529C= (p.Arg177=) c.694C= (p.Arg232=) | |
5 | g.127396648C>G | CA360718456 | MEGF10 | c.529C>G (p.Arg177Gly) c.694C>G (p.Arg232Gly) | |
5 | g.127396648C>T | CA3391315 | MEGF10 | c.529C>T (p.Arg177Cys) c.694C>T (p.Arg232Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127396649G>A | CA3391316 | MEGF10 | c.530G>A (p.Arg177His) c.695G>A (p.Arg232His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127396649G>C | CA360718461 | MEGF10 | c.530G>C (p.Arg177Pro) c.695G>C (p.Arg232Pro) | |
5 | g.127396649G= | CA1580839416 | MEGF10 | c.530G= (p.Arg177=) c.695G= (p.Arg232=) | |
5 | g.127396649G>T | CA360718463 | MEGF10 | c.530G>T (p.Arg177Leu) c.695G>T (p.Arg232Leu) | gnomAD v4 |
5 | g.127396650C>A | CA446491026 | MEGF10 | c.531C>A (p.Arg177=) c.696C>A (p.Arg232=) | |
5 | g.127396650C>G | CA446491027 | MEGF10 | c.531C>G (p.Arg177=) c.696C>G (p.Arg232=) | |
5 | g.127396650C>T | CA446491028 | MEGF10 | c.531C>T (p.Arg177=) c.696C>T (p.Arg232=) | |
5 | g.127396651T>A | CA360718465 | MEGF10 | c.532T>A (p.Cys178Ser) c.697T>A (p.Cys233Ser) | |
5 | g.127396651T>C | CA3391317 | MEGF10 | c.532T>C (p.Cys178Arg) c.697T>C (p.Cys233Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127396651T>G | CA360718467 | MEGF10 | c.532T>G (p.Cys178Gly) c.697T>G (p.Cys233Gly) | |
5 | g.127396651T= | CA1580839417 | MEGF10 | c.532T= (p.Cys178=) c.697T= (p.Cys233=) | |
5 | g.127396652G>A | CA360718470 | MEGF10 | c.533G>A (p.Cys178Tyr) c.698G>A (p.Cys233Tyr) | |
5 | g.127396652G>C | CA360718472 | MEGF10 | c.533G>C (p.Cys178Ser) c.698G>C (p.Cys233Ser) | |
5 | g.127396652G>T | CA360718474 | MEGF10 | c.533G>T (p.Cys178Phe) c.698G>T (p.Cys233Phe) | ClinVar dbSNP |
5 | g.127396653C>A | CA360718477 | MEGF10 | c.534C>A (p.Cys178Ter) c.699C>A (p.Cys233Ter) | gnomAD v4 |
5 | g.127396653C= | CA1580839418 | MEGF10 | c.534C= (p.Cys178=) c.699C= (p.Cys233=) | |
5 | g.127396653C>G | CA360718481 | MEGF10 | c.534C>G (p.Cys178Trp) c.699C>G (p.Cys233Trp) | |
5 | g.127396653C>T | CA3391318 | MEGF10 | c.534C>T (p.Cys178=) c.699C>T (p.Cys233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127396654G>A | CA3391319 | MEGF10 | c.535G>A (p.Glu179Lys) c.700G>A (p.Glu234Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127396654G>C | CA360718488 | MEGF10 | c.535G>C (p.Glu179Gln) c.700G>C (p.Glu234Gln) | |
5 | g.127396654G= | CA1580839419 | MEGF10 | c.535G= (p.Glu179=) c.700G= (p.Glu234=) | |
5 | g.127396654G>T | CA360718486 | MEGF10 | c.535G>T (p.Glu179Ter) c.700G>T (p.Glu234Ter) | |
5 | g.127396655A>C | CA360718489 | MEGF10 | c.536A>C (p.Glu179Ala) c.701A>C (p.Glu234Ala) | |
5 | g.127396655A>G | CA360718494 | MEGF10 | c.536A>G (p.Glu179Gly) c.701A>G (p.Glu234Gly) | |
5 | g.127396655A>T | CA360718491 | MEGF10 | c.536A>T (p.Glu179Val) c.701A>T (p.Glu234Val) | |
5 | g.127396656G>A | CA446491048 | MEGF10 | c.537G>A (p.Glu179=) c.702G>A (p.Glu234=) | |
5 | g.127396656G>C | CA360718496 | MEGF10 | c.537G>C (p.Glu179Asp) c.702G>C (p.Glu234Asp) | gnomAD v4 |
5 | g.127396656G= | CA1580839420 | MEGF10 | c.537G= (p.Glu179=) c.702G= (p.Glu234=) | |
5 | g.127396656G>T | CA360718499 | MEGF10 | c.537G>T (p.Glu179Asp) c.702G>T (p.Glu234Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127396657G>A | CA3391320 | MEGF10 | c.538G>A (p.Asp180Asn) c.703G>A (p.Asp235Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127396657G>C | CA360718500 | MEGF10 | c.538G>C (p.Asp180His) c.703G>C (p.Asp235His) | |
5 | g.127396657G= | CA1580839421 | MEGF10 | c.538G= (p.Asp180=) c.703G= (p.Asp235=) |