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 |
|---|---|---|---|---|---|
| 5 | g.127396532_127396778del | CA915940372 | MEGF10 | c.413_659del (p.Cys139ValfsTer?) c.578_824del (p.Cys194ValfsTer?) | ClinVar |
| 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=) | |
| 5 | g.127396657G>T | CA360718502 | MEGF10 | c.538G>T (p.Asp180Tyr) c.703G>T (p.Asp235Tyr) | |
| 5 | g.127396658A>C | CA360718505 | MEGF10 | c.539A>C (p.Asp180Ala) c.704A>C (p.Asp235Ala) | |
| 5 | g.127396658A>G | CA360718510 | MEGF10 | c.539A>G (p.Asp180Gly) c.704A>G (p.Asp235Gly) | gnomAD v4 |
| 5 | g.127396658A>T | CA360718512 | MEGF10 | c.539A>T (p.Asp180Val) c.704A>T (p.Asp235Val) | gnomAD v4 |
| 5 | g.127396659C>A | CA3391321 | MEGF10 | c.540C>A (p.Asp180Glu) c.705C>A (p.Asp235Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396659C= | CA1580839422 | MEGF10 | c.540C= (p.Asp180=) c.705C= (p.Asp235=) | |
| 5 | g.127396659C>G | CA360718514 | MEGF10 | c.540C>G (p.Asp180Glu) c.705C>G (p.Asp235Glu) | gnomAD v4 |
| 5 | g.127396659C>T | CA446491049 | MEGF10 | c.540C>T (p.Asp180=) c.705C>T (p.Asp235=) | |
| 5 | g.127396660C>A | CA360718517 | MEGF10 | c.541C>A (p.Arg181Ser) c.706C>A (p.Arg236Ser) | |
| 5 | g.127396660C= | CA1580839423 | MEGF10 | c.541C= (p.Arg181=) c.706C= (p.Arg236=) | |
| 5 | g.127396660C>G | CA360718519 | MEGF10 | c.541C>G (p.Arg181Gly) c.706C>G (p.Arg236Gly) | |
| 5 | g.127396660C>T | CA3391322 | MEGF10 | c.541C>T (p.Arg181Cys) c.706C>T (p.Arg236Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396661G>A | CA3391324 | MEGF10 | c.542G>A (p.Arg181His) c.707G>A (p.Arg236His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396661G>C | CA360718528 | MEGF10 | c.542G>C (p.Arg181Pro) c.707G>C (p.Arg236Pro) | |
| 5 | g.127396661G= | CA1580839424 | MEGF10 | c.542G= (p.Arg181=) c.707G= (p.Arg236=) | |
| 5 | g.127396661G>T | CA3391323 | MEGF10 | c.542G>T (p.Arg181Leu) c.707G>T (p.Arg236Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396662C>A | CA446491050 | MEGF10 | c.543C>A (p.Arg181=) c.708C>A (p.Arg236=) | |
| 5 | g.127396662C>G | CA446491051 | MEGF10 | c.543C>G (p.Arg181=) c.708C>G (p.Arg236=) | |
| 5 | g.127396662C>T | CA446491052 | MEGF10 | c.543C>T (p.Arg181=) c.708C>T (p.Arg236=) | |
| 5 | g.127396663T>A | CA360718536 | MEGF10 | c.544T>A (p.Cys182Ser) c.709T>A (p.Cys237Ser) | |
| 5 | g.127396663T>C | CA360718539 | MEGF10 | c.544T>C (p.Cys182Arg) c.709T>C (p.Cys237Arg) | |
| 5 | g.127396663T>G | CA360718541 | MEGF10 | c.544T>G (p.Cys182Gly) c.709T>G (p.Cys237Gly) | |
| 5 | g.127396664G>A | CA360718544 | MEGF10 | c.545G>A (p.Cys182Tyr) c.710G>A (p.Cys237Tyr) | |
| 5 | g.127396664G>C | CA360718547 | MEGF10 | c.545G>C (p.Cys182Ser) c.710G>C (p.Cys237Ser) | COSMIC |
| 5 | g.127396664G>T | CA360718548 | MEGF10 | c.545G>T (p.Cys182Phe) c.710G>T (p.Cys237Phe) | |
| 5 | g.127396665T>A | CA360718552 | MEGF10 | c.546T>A (p.Cys182Ter) c.711T>A (p.Cys237Ter) | |
| 5 | g.127396665T>C | CA446491053 | MEGF10 | c.546T>C (p.Cys182=) c.711T>C (p.Cys237=) | |
| 5 | g.127396665T>G | CA360718554 | MEGF10 | c.546T>G (p.Cys182Trp) c.711T>G (p.Cys237Trp) | |
| 5 | g.127396666G>A | CA360718558 | MEGF10 | c.547G>A (p.Glu183Lys) c.712G>A (p.Glu238Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396666G>C | CA360718561 | MEGF10 | c.547G>C (p.Glu183Gln) c.712G>C (p.Glu238Gln) | COSMIC |
| 5 | g.127396666G= | CA1580839425 | MEGF10 | c.547G= (p.Glu183=) c.712G= (p.Glu238=) | |
| 5 | g.127396666G>T | CA360718563 | MEGF10 | c.547G>T (p.Glu183Ter) c.712G>T (p.Glu238Ter) | gnomAD v4 |
| 5 | g.127396667A>C | CA360718566 | MEGF10 | c.548A>C (p.Glu183Ala) c.713A>C (p.Glu238Ala) | |
| 5 | g.127396667A>G | CA360718573 | MEGF10 | c.548A>G (p.Glu183Gly) c.713A>G (p.Glu238Gly) | |
| 5 | g.127396667A>T | CA360718569 | MEGF10 | c.548A>T (p.Glu183Val) c.713A>T (p.Glu238Val) | |
| 5 | g.127396668G>A | CA446491054 | MEGF10 | c.549G>A (p.Glu183=) c.714G>A (p.Glu238=) | |
| 5 | g.127396668G>C | CA360718575 | MEGF10 | c.549G>C (p.Glu183Asp) c.714G>C (p.Glu238Asp) | |
| 5 | g.127396668G>T | CA360718577 | MEGF10 | c.549G>T (p.Glu183Asp) c.714G>T (p.Glu238Asp) | gnomAD v4 |
| 5 | g.127396669C>A | CA360718581 | MEGF10 | c.550C>A (p.Gln184Lys) c.715C>A (p.Gln239Lys) | |
| 5 | g.127396669C= | CA1580839426 | MEGF10 | c.550C= (p.Gln184=) c.715C= (p.Gln239=) | |
| 5 | g.127396669C>G | CA360718584 | MEGF10 | c.550C>G (p.Gln184Glu) c.715C>G (p.Gln239Glu) | |
| 5 | g.127396669C>T | CA360718588 | MEGF10 | c.550C>T (p.Gln184Ter) c.715C>T (p.Gln239Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127396670A>C | CA360718592 | MEGF10 | c.551A>C (p.Gln184Pro) c.716A>C (p.Gln239Pro) | |
| 5 | g.127396670A>G | CA360718595 | MEGF10 | c.551A>G (p.Gln184Arg) c.716A>G (p.Gln239Arg) | |
| 5 | g.127396670A>T | CA360718599 | MEGF10 | c.551A>T (p.Gln184Leu) c.716A>T (p.Gln239Leu) | |
| 5 | g.127396671G>A | CA446491055 | MEGF10 | c.552G>A (p.Gln184=) c.717G>A (p.Gln239=) | |
| 5 | g.127396671G>C | CA360718601 | MEGF10 | c.552G>C (p.Gln184His) c.717G>C (p.Gln239His) | |
| 5 | g.127396671G>T | CA360718604 | MEGF10 | c.552G>T (p.Gln184His) c.717G>T (p.Gln239His) | |
| 5 | g.127396672G>A | CA360718612 | MEGF10 | c.553G>A (p.Gly185Ser) c.718G>A (p.Gly240Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127396672G>C | CA360718610 | MEGF10 | c.553G>C (p.Gly185Arg) c.718G>C (p.Gly240Arg) | |
| 5 | g.127396672G= | CA1580839427 | MEGF10 | c.553G= (p.Gly185=) c.718G= (p.Gly240=) | |
| 5 | g.127396672G>T | CA360718608 | MEGF10 | c.553G>T (p.Gly185Cys) c.718G>T (p.Gly240Cys) | |
| 5 | g.127396673G>A | CA360718616 | MEGF10 | c.554G>A (p.Gly185Asp) c.719G>A (p.Gly240Asp) | gnomAD v4 |
| 5 | g.127396673G>C | CA360718620 | MEGF10 | c.554G>C (p.Gly185Ala) c.719G>C (p.Gly240Ala) | COSMIC |
| 5 | g.127396673G>T | CA360718621 | MEGF10 | c.554G>T (p.Gly185Val) c.719G>T (p.Gly240Val) | |
| 5 | g.127396674C>A | CA446491057 | MEGF10 | c.555C>A (p.Gly185=) c.720C>A (p.Gly240=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396674C= | CA1580839428 | MEGF10 | c.555C= (p.Gly185=) c.720C= (p.Gly240=) | |
| 5 | g.127396674C>G | CA446491058 | MEGF10 | c.555C>G (p.Gly185=) c.720C>G (p.Gly240=) | |
| 5 | g.127396674C>T | CA446491056 | MEGF10 | c.555C>T (p.Gly185=) c.720C>T (p.Gly240=) | |
| 5 | g.127396675A= | CA1580839429 | MEGF10 | c.556A= (p.Thr186=) c.721A= (p.Thr241=) | |
| 5 | g.127396675A>C | CA360718623 | MEGF10 | c.556A>C (p.Thr186Pro) c.721A>C (p.Thr241Pro) | |
| 5 | g.127396675A>G | CA360718625 | MEGF10 | c.556A>G (p.Thr186Ala) c.721A>G (p.Thr241Ala) | dbSNP gnomAD v4 |
| 5 | g.127396675A>T | CA360718627 | MEGF10 | c.556A>T (p.Thr186Ser) c.721A>T (p.Thr241Ser) | gnomAD v4 |
| 5 | g.127396676C>A | CA360718629 | MEGF10 | c.557C>A (p.Thr186Asn) c.722C>A (p.Thr241Asn) | |
| 5 | g.127396676C= | CA1580839430 | MEGF10 | c.557C= (p.Thr186=) c.722C= (p.Thr241=) | |
| 5 | g.127396676C>G | CA3391325 | MEGF10 | c.557C>G (p.Thr186Ser) c.722C>G (p.Thr241Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396676C>T | CA360718633 | MEGF10 | c.557C>T (p.Thr186Ile) c.722C>T (p.Thr241Ile) | gnomAD v4 |
| 5 | g.127396677C>A | CA446491061 | MEGF10 | c.558C>A (p.Thr186=) c.723C>A (p.Thr241=) | |
| 5 | g.127396677C>G | CA446491059 | MEGF10 | c.558C>G (p.Thr186=) c.723C>G (p.Thr241=) | |
| 5 | g.127396677C>T | CA446491060 | MEGF10 | c.558C>T (p.Thr186=) c.723C>T (p.Thr241=) | |
| 5 | g.127396678T>A | CA360718637 | MEGF10 | c.559T>A (p.Tyr187Asn) c.724T>A (p.Tyr242Asn) | |
| 5 | g.127396678T>C | CA360718641 | MEGF10 | c.559T>C (p.Tyr187His) c.724T>C (p.Tyr242His) | |
| 5 | g.127396678T>G | CA360718643 | MEGF10 | c.559T>G (p.Tyr187Asp) c.724T>G (p.Tyr242Asp) | |
| 5 | g.127396679A= | CA1580839431 | MEGF10 | c.560A= (p.Tyr187=) c.725A= (p.Tyr242=) | |
| 5 | g.127396679A>C | CA360718648 | MEGF10 | c.560A>C (p.Tyr187Ser) c.725A>C (p.Tyr242Ser) | |
| 5 | g.127396679A>G | CA360718649 | MEGF10 | c.560A>G (p.Tyr187Cys) c.725A>G (p.Tyr242Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396679A>T | CA360718645 | MEGF10 | c.560A>T (p.Tyr187Phe) c.725A>T (p.Tyr242Phe) | |
| 5 | g.127396680T>A | CA360718650 | MEGF10 | c.561T>A (p.Tyr187Ter) c.726T>A (p.Tyr242Ter) | |
| 5 | g.127396680T>C | CA446491062 | MEGF10 | c.561T>C (p.Tyr187=) c.726T>C (p.Tyr242=) | |
| 5 | g.127396680T>G | CA360718651 | MEGF10 | c.561T>G (p.Tyr187Ter) c.726T>G (p.Tyr242Ter) | |
| 5 | g.127396681G>A | CA360718654 | MEGF10 | c.562G>A (p.Gly188Ser) c.727G>A (p.Gly243Ser) | |
| 5 | g.127396681G>C | CA360718656 | MEGF10 | c.562G>C (p.Gly188Arg) c.727G>C (p.Gly243Arg) | |
| 5 | g.127396681G>T | CA360718657 | MEGF10 | c.562G>T (p.Gly188Cys) c.727G>T (p.Gly243Cys) | |
| 5 | g.127396682G>A | CA360718662 | MEGF10 | c.563G>A (p.Gly188Asp) c.728G>A (p.Gly243Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396682G>C | CA360718659 | MEGF10 | c.563G>C (p.Gly188Ala) c.728G>C (p.Gly243Ala) | |
| 5 | g.127396682G= | CA1580839432 | MEGF10 | c.563G= (p.Gly188=) c.728G= (p.Gly243=) | |
| 5 | g.127396682G>T | CA360718658 | MEGF10 | c.563G>T (p.Gly188Val) c.728G>T (p.Gly243Val) | |
| 5 | g.127396683T>A | CA446491063 | MEGF10 | c.564T>A (p.Gly188=) c.729T>A (p.Gly243=) | |
| 5 | g.127396683T>C | CA446491064 | MEGF10 | c.564T>C (p.Gly188=) c.729T>C (p.Gly243=) | |
| 5 | g.127396683T>G | CA446491065 | MEGF10 | c.564T>G (p.Gly188=) c.729T>G (p.Gly243=) | |
| 5 | g.127396684A>C | CA360718665 | MEGF10 | c.565A>C (p.Asn189His) c.730A>C (p.Asn244His) | |
| 5 | g.127396684A>G | CA360718667 | MEGF10 | c.565A>G (p.Asn189Asp) c.730A>G (p.Asn244Asp) | |
| 5 | g.127396684A>T | CA360718670 | MEGF10 | c.565A>T (p.Asn189Tyr) c.730A>T (p.Asn244Tyr) | |
| 5 | g.127396685A>C | CA360718674 | MEGF10 | c.566A>C (p.Asn189Thr) c.731A>C (p.Asn244Thr) | |
| 5 | g.127396685A>G | CA360718677 | MEGF10 | c.566A>G (p.Asn189Ser) c.731A>G (p.Asn244Ser) | |
| 5 | g.127396685A>T | CA360718678 | MEGF10 | c.566A>T (p.Asn189Ile) c.731A>T (p.Asn244Ile) | |
| 5 | g.127396686C>A | CA360718679 | MEGF10 | c.567C>A (p.Asn189Lys) c.732C>A (p.Asn244Lys) | gnomAD v4 |
| 5 | g.127396686C= | CA1580839433 | MEGF10 | c.567C= (p.Asn189=) c.732C= (p.Asn244=) | |
| 5 | g.127396686C>G | CA360718680 | MEGF10 | c.567C>G (p.Asn189Lys) c.732C>G (p.Asn244Lys) | |
| 5 | g.127396686C>T | CA3391326 | MEGF10 | c.567C>T (p.Asn189=) c.732C>T (p.Asn244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396687G>A | CA3391327 | MEGF10 | c.568G>A (p.Asp190Asn) c.733G>A (p.Asp245Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396687G>C | CA360718683 | MEGF10 | c.568G>C (p.Asp190His) c.733G>C (p.Asp245His) | gnomAD v4 |
| 5 | g.127396687G= | CA1580839434 | MEGF10 | c.568G= (p.Asp190=) c.733G= (p.Asp245=) | |
| 5 | g.127396687G>T | CA3391328 | MEGF10 | c.568G>T (p.Asp190Tyr) c.733G>T (p.Asp245Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396688A>C | CA360718687 | MEGF10 | c.569A>C (p.Asp190Ala) c.734A>C (p.Asp245Ala) | |
| 5 | g.127396688A>G | CA360718689 | MEGF10 | c.569A>G (p.Asp190Gly) c.734A>G (p.Asp245Gly) | gnomAD v4 |
| 5 | g.127396688A>T | CA360718690 | MEGF10 | c.569A>T (p.Asp190Val) c.734A>T (p.Asp245Val) | |
| 5 | g.127396689C>A | CA360718691 | MEGF10 | c.570C>A (p.Asp190Glu) c.735C>A (p.Asp245Glu) | gnomAD v4 |
| 5 | g.127396689C= | CA1580839435 | MEGF10 | c.570C= (p.Asp190=) c.735C= (p.Asp245=) | |
| 5 | g.127396689C>G | CA360718692 | MEGF10 | c.570C>G (p.Asp190Glu) c.735C>G (p.Asp245Glu) | |
| 5 | g.127396689C>T | CA3391329 | MEGF10 | c.570C>T (p.Asp190=) c.735C>T (p.Asp245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396690T>A | CA360718705 | MEGF10 | c.571T>A (p.Cys191Ser) c.736T>A (p.Cys246Ser) | |
| 5 | g.127396690T>C | CA3391330 | MEGF10 | c.571T>C (p.Cys191Arg) c.736T>C (p.Cys246Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396690T>G | CA360718714 | MEGF10 | c.571T>G (p.Cys191Gly) c.736T>G (p.Cys246Gly) | |
| 5 | g.127396690T= | CA1580839436 | MEGF10 | c.571T= (p.Cys191=) c.736T= (p.Cys246=) | |
| 5 | g.127396691G>A | CA126930161 | MEGF10 | c.572G>A (p.Cys191Tyr) c.737G>A (p.Cys246Tyr) | ClinVar dbSNP |
| 5 | g.127396691G>C | CA360718718 | MEGF10 | c.572G>C (p.Cys191Ser) c.737G>C (p.Cys246Ser) | COSMIC |
| 5 | g.127396691G= | CA1580839437 | MEGF10 | c.572G= (p.Cys191=) c.737G= (p.Cys246=) | |
| 5 | g.127396691G>T | CA360718716 | MEGF10 | c.572G>T (p.Cys191Phe) c.737G>T (p.Cys246Phe) | |
| 5 | g.127396692T>A | CA360718720 | MEGF10 | c.573T>A (p.Cys191Ter) c.738T>A (p.Cys246Ter) | |
| 5 | g.127396692T>C | CA446491066 | MEGF10 | c.573T>C (p.Cys191=) c.738T>C (p.Cys246=) | |
| 5 | g.127396692T>G | CA360718722 | MEGF10 | c.573T>G (p.Cys191Trp) c.738T>G (p.Cys246Trp) | |
| 5 | g.127396693C>A | CA3391331 | MEGF10 | c.574C>A (p.His192Asn) c.739C>A (p.His247Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396693C= | CA1580839438 | MEGF10 | c.574C= (p.His192=) c.739C= (p.His247=) | |
| 5 | g.127396693C>G | CA360718725 | MEGF10 | c.574C>G (p.His192Asp) c.739C>G (p.His247Asp) | |
| 5 | g.127396693C>T | CA3391332 | MEGF10 | c.574C>T (p.His192Tyr) c.739C>T (p.His247Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396694A>C | CA360718726 | MEGF10 | c.575A>C (p.His192Pro) c.740A>C (p.His247Pro) | |
| 5 | g.127396694A>G | CA360718727 | MEGF10 | c.575A>G (p.His192Arg) c.740A>G (p.His247Arg) | |
| 5 | g.127396694A>T | CA360718728 | MEGF10 | c.575A>T (p.His192Leu) c.740A>T (p.His247Leu) | |
| 5 | g.127396695T>A | CA360718730 | MEGF10 | c.576T>A (p.His192Gln) c.741T>A (p.His247Gln) | |
| 5 | g.127396695T>C | CA446491067 | MEGF10 | c.576T>C (p.His192=) c.741T>C (p.His247=) | |
| 5 | g.127396695T>G | CA360718732 | MEGF10 | c.576T>G (p.His192Gln) c.741T>G (p.His247Gln) | |
| 5 | g.127396696C>A | CA360718734 | MEGF10 | c.577C>A (p.Gln193Lys) c.742C>A (p.Gln248Lys) | |
| 5 | g.127396696C>G | CA360718736 | MEGF10 | c.577C>G (p.Gln193Glu) c.742C>G (p.Gln248Glu) | |
| 5 | g.127396696C>T | CA360718738 | MEGF10 | c.577C>T (p.Gln193Ter) c.742C>T (p.Gln248Ter) | |
| 5 | g.127396697A= | CA1580839439 | MEGF10 | c.578A= (p.Gln193=) c.743A= (p.Gln248=) | |
| 5 | g.127396697A>C | CA360718744 | MEGF10 | c.578A>C (p.Gln193Pro) c.743A>C (p.Gln248Pro) | |
| 5 | g.127396697A>G | CA360718740 | MEGF10 | c.578A>G (p.Gln193Arg) c.743A>G (p.Gln248Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396697A>T | CA360718742 | MEGF10 | c.578A>T (p.Gln193Leu) c.743A>T (p.Gln248Leu) | |
| 5 | g.127396698G>A | CA446491068 | MEGF10 | c.579G>A (p.Gln193=) c.744G>A (p.Gln248=) | |
| 5 | g.127396698G>C | CA360718745 | MEGF10 | c.579G>C (p.Gln193His) c.744G>C (p.Gln248His) | |
| 5 | g.127396698G>T | CA360718746 | MEGF10 | c.579G>T (p.Gln193His) c.744G>T (p.Gln248His) | |
| 5 | g.127396699A>C | CA446491069 | MEGF10 | c.580A>C (p.Arg194=) c.745A>C (p.Arg249=) | |
| 5 | g.127396699A>G | CA360718748 | MEGF10 | c.580A>G (p.Arg194Gly) c.745A>G (p.Arg249Gly) | |
| 5 | g.127396699A>T | CA360718750 | MEGF10 | c.580A>T (p.Arg194Ter) c.745A>T (p.Arg249Ter) | |
| 5 | g.127396700G>A | CA126930198 | MEGF10 | c.581G>A (p.Arg194Lys) c.746G>A (p.Arg249Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127396700G>C | CA360718751 | MEGF10 | c.581G>C (p.Arg194Thr) c.746G>C (p.Arg249Thr) | |
| 5 | g.127396700G= | CA1580839440 | MEGF10 | c.581G= (p.Arg194=) c.746G= (p.Arg249=) | |
| 5 | g.127396700G>T | CA360718753 | MEGF10 | c.581G>T (p.Arg194Ile) c.746G>T (p.Arg249Ile) | |
| 5 | g.127396701A>C | CA360718757 | MEGF10 | c.582A>C (p.Arg194Ser) c.747A>C (p.Arg249Ser) | |
| 5 | g.127396701A>G | CA446491070 | MEGF10 | c.582A>G (p.Arg194=) c.747A>G (p.Arg249=) | |
| 5 | g.127396701A>T | CA360718765 | MEGF10 | c.582A>T (p.Arg194Ser) c.747A>T (p.Arg249Ser) | |
| 5 | g.127396702T>A | CA360718769 | MEGF10 | c.583T>A (p.Cys195Ser) c.748T>A (p.Cys250Ser) | |
| 5 | g.127396702T>C | CA3391333 | MEGF10 | c.583T>C (p.Cys195Arg) c.748T>C (p.Cys250Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396702T>G | CA360718781 | MEGF10 | c.583T>G (p.Cys195Gly) c.748T>G (p.Cys250Gly) | |
| 5 | g.127396702T= | CA1580839441 | MEGF10 | c.583T= (p.Cys195=) c.748T= (p.Cys250=) | |
| 5 | g.127396703G>A | CA360718784 | MEGF10 | c.584G>A (p.Cys195Tyr) c.749G>A (p.Cys250Tyr) | gnomAD v4 |
| 5 | g.127396703G>C | CA360718787 | MEGF10 | c.584G>C (p.Cys195Ser) c.749G>C (p.Cys250Ser) | |
| 5 | g.127396703G>T | CA360718783 | MEGF10 | c.584G>T (p.Cys195Phe) c.749G>T (p.Cys250Phe) | |
| 5 | g.127396704C>A | CA360718795 | MEGF10 | c.585C>A (p.Cys195Ter) c.750C>A (p.Cys250Ter) | |
| 5 | g.127396704C>G | CA360718791 | MEGF10 | c.585C>G (p.Cys195Trp) c.750C>G (p.Cys250Trp) | gnomAD v4 |
| 5 | g.127396704C>T | CA446491071 | MEGF10 | c.585C>T (p.Cys195=) c.750C>T (p.Cys250=) | gnomAD v4 |
| 5 | g.127396705C>A | CA360718798 | MEGF10 | c.586C>A (p.Gln196Lys) c.751C>A (p.Gln251Lys) | |
| 5 | g.127396705C>G | CA360718801 | MEGF10 | c.586C>G (p.Gln196Glu) c.751C>G (p.Gln251Glu) | |
| 5 | g.127396705C>T | CA360718805 | MEGF10 | c.586C>T (p.Gln196Ter) c.751C>T (p.Gln251Ter) | gnomAD v4 |
| 5 | g.127396706A>C | CA360718809 | MEGF10 | c.587A>C (p.Gln196Pro) c.752A>C (p.Gln251Pro) | |
| 5 | g.127396706A>G | CA360718813 | MEGF10 | c.587A>G (p.Gln196Arg) c.752A>G (p.Gln251Arg) | |
| 5 | g.127396706A>T | CA360718819 | MEGF10 | c.587A>T (p.Gln196Leu) c.752A>T (p.Gln251Leu) | |
| 5 | g.127396707G>A | CA3391334 | MEGF10 | c.588G>A (p.Gln196=) c.753G>A (p.Gln251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396707G>C | CA360718827 | MEGF10 | c.588G>C (p.Gln196His) c.753G>C (p.Gln251His) | |
| 5 | g.127396707G= | CA1580839442 | MEGF10 | c.588G= (p.Gln196=) c.753G= (p.Gln251=) | |
| 5 | g.127396707G>T | CA360718830 | MEGF10 | c.588G>T (p.Gln196His) c.753G>T (p.Gln251His) | |
| 5 | g.127396708T>A | CA360718834 | MEGF10 | c.589T>A (p.Cys197Ser) c.754T>A (p.Cys252Ser) | |
| 5 | g.127396708T>C | CA360718838 | MEGF10 | c.589T>C (p.Cys197Arg) c.754T>C (p.Cys252Arg) | |
| 5 | g.127396708T>G | CA360718840 | MEGF10 | c.589T>G (p.Cys197Gly) c.754T>G (p.Cys252Gly) | |
| 5 | g.127396709G>A | CA360718848 | MEGF10 | c.590G>A (p.Cys197Tyr) c.755G>A (p.Cys252Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396709G>C | CA360718844 | MEGF10 | c.590G>C (p.Cys197Ser) c.755G>C (p.Cys252Ser) | |
| 5 | g.127396709G= | CA1580839443 | MEGF10 | c.590G= (p.Cys197=) c.755G= (p.Cys252=) | |
| 5 | g.127396709G>T | CA360718842 | MEGF10 | c.590G>T (p.Cys197Phe) c.755G>T (p.Cys252Phe) | |
| 5 | g.127396710C>A | CA360718852 | MEGF10 | c.591C>A (p.Cys197Ter) c.756C>A (p.Cys252Ter) | |
| 5 | g.127396710C= | CA1580839444 | MEGF10 | c.591C= (p.Cys197=) c.756C= (p.Cys252=) | |
| 5 | g.127396710C>G | CA360718857 | MEGF10 | c.591C>G (p.Cys197Trp) c.756C>G (p.Cys252Trp) | |
| 5 | g.127396710C>T | CA446491072 | MEGF10 | c.591C>T (p.Cys197=) c.756C>T (p.Cys252=) | dbSNP |
| 5 | g.127396711C>A | CA360718861 | MEGF10 | c.592C>A (p.Gln198Lys) c.757C>A (p.Gln253Lys) | |
| 5 | g.127396711C>G | CA360718870 | MEGF10 | c.592C>G (p.Gln198Glu) c.757C>G (p.Gln253Glu) | |
| 5 | g.127396711C>T | CA360718873 | MEGF10 | c.592C>T (p.Gln198Ter) c.757C>T (p.Gln253Ter) | |
| 5 | g.127396712A>C | CA360718884 | MEGF10 | c.593A>C (p.Gln198Pro) c.758A>C (p.Gln253Pro) | |
| 5 | g.127396712A>G | CA360718894 | MEGF10 | c.593A>G (p.Gln198Arg) c.758A>G (p.Gln253Arg) | |
| 5 | g.127396712A>T | CA360718898 | MEGF10 | c.593A>T (p.Gln198Leu) c.758A>T (p.Gln253Leu) | |
| 5 | g.127396713G>A | CA446491073 | MEGF10 | c.594G>A (p.Gln198=) c.759G>A (p.Gln253=) | |
| 5 | g.127396713G>C | CA360718907 | MEGF10 | c.594G>C (p.Gln198His) c.759G>C (p.Gln253His) | |
| 5 | g.127396713G= | CA1580839445 | MEGF10 | c.594G= (p.Gln198=) c.759G= (p.Gln253=) | |
| 5 | g.127396713G>T | CA3391335 | MEGF10 | c.594G>T (p.Gln198His) c.759G>T (p.Gln253His) | dbSNP ExAC |
| 5 | g.127396714A>C | CA360718913 | MEGF10 | c.595A>C (p.Asn199His) c.760A>C (p.Asn254His) | |
| 5 | g.127396714A>G | CA360718915 | MEGF10 | c.595A>G (p.Asn199Asp) c.760A>G (p.Asn254Asp) | |
| 5 | g.127396714A>T | CA360718920 | MEGF10 | c.595A>T (p.Asn199Tyr) c.760A>T (p.Asn254Tyr) | |
| 5 | g.127396715A= | CA1580839446 | MEGF10 | c.596A= (p.Asn199=) c.761A= (p.Asn254=) | |
| 5 | g.127396715A>C | CA360718930 | MEGF10 | c.596A>C (p.Asn199Thr) c.761A>C (p.Asn254Thr) | |
| 5 | g.127396715A>G | CA3391336 | MEGF10 | c.596A>G (p.Asn199Ser) c.761A>G (p.Asn254Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396715A>T | CA360718923 | MEGF10 | c.596A>T (p.Asn199Ile) c.761A>T (p.Asn254Ile) | |
| 5 | g.127396716T>A | CA360718934 | MEGF10 | c.597T>A (p.Asn199Lys) c.762T>A (p.Asn254Lys) | |
| 5 | g.127396716T>C | CA446491074 | MEGF10 | c.597T>C (p.Asn199=) c.762T>C (p.Asn254=) | |
| 5 | g.127396716T>G | CA360718935 | MEGF10 | c.597T>G (p.Asn199Lys) c.762T>G (p.Asn254Lys) | |
| 5 | g.127396717G>A | CA3391337 | MEGF10 | c.598G>A (p.Gly200Arg) c.763G>A (p.Gly255Arg) | dbSNP ExAC gnomAD v2 |
| 5 | g.127396717G>C | CA360718957 | MEGF10 | c.598G>C (p.Gly200Arg) c.763G>C (p.Gly255Arg) | |
| 5 | g.127396717G= | CA1580839447 | MEGF10 | c.598G= (p.Gly200=) c.763G= (p.Gly255=) | |
| 5 | g.127396717G>T | CA360718966 | MEGF10 | c.598G>T (p.Gly200Ter) c.763G>T (p.Gly255Ter) | |
| 5 | g.127396718G>A | CA360718974 | MEGF10 | c.599G>A (p.Gly200Glu) c.764G>A (p.Gly255Glu) | |
| 5 | g.127396718G>C | CA360718984 | MEGF10 | c.599G>C (p.Gly200Ala) c.764G>C (p.Gly255Ala) | |
| 5 | g.127396718G= | CA1580839448 | MEGF10 | c.599G= (p.Gly200=) c.764G= (p.Gly255=) | |
| 5 | g.127396718G>T | CA360718990 | MEGF10 | c.599G>T (p.Gly200Val) c.764G>T (p.Gly255Val) | dbSNP gnomAD v4 |
| 5 | g.127396719A>C | CA446491075 | MEGF10 | c.600A>C (p.Gly200=) c.765A>C (p.Gly255=) | |
| 5 | g.127396719A>G | CA446491076 | MEGF10 | c.600A>G (p.Gly200=) c.765A>G (p.Gly255=) | |
| 5 | g.127396719A>T | CA446491077 | MEGF10 | c.600A>T (p.Gly200=) c.765A>T (p.Gly255=) | |
| 5 | g.127396720G>A | CA360718993 | MEGF10 | c.601G>A (p.Ala201Thr) c.766G>A (p.Ala256Thr) | dbSNP |
| 5 | g.127396720G>C | CA360718997 | MEGF10 | c.601G>C (p.Ala201Pro) c.766G>C (p.Ala256Pro) | |
| 5 | g.127396720G= | CA1580839449 | MEGF10 | c.601G= (p.Ala201=) c.766G= (p.Ala256=) | |
| 5 | g.127396720G>T | CA360718998 | MEGF10 | c.601G>T (p.Ala201Ser) c.766G>T (p.Ala256Ser) | |
| 5 | g.127396721C>A | CA360719009 | MEGF10 | c.602C>A (p.Ala201Asp) c.767C>A (p.Ala256Asp) | gnomAD v4 |
| 5 | g.127396721C= | CA1580839450 | MEGF10 | c.602C= (p.Ala201=) c.767C= (p.Ala256=) | |
| 5 | g.127396721C>G | CA360719002 | MEGF10 | c.602C>G (p.Ala201Gly) c.767C>G (p.Ala256Gly) | |
| 5 | g.127396721C>T | CA3391338 | MEGF10 | c.602C>T (p.Ala201Val) c.767C>T (p.Ala256Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396722C>A | CA446491078 | MEGF10 | c.603C>A (p.Ala201=) c.768C>A (p.Ala256=) | |
| 5 | g.127396722C>G | CA446491079 | MEGF10 | c.603C>G (p.Ala201=) c.768C>G (p.Ala256=) | gnomAD v4 |
| 5 | g.127396722C>T | CA446491080 | MEGF10 | c.603C>T (p.Ala201=) c.768C>T (p.Ala256=) | |
| 5 | g.127396723A= | CA1580839451 | MEGF10 | c.604A= (p.Thr202=) c.769A= (p.Thr257=) | |
| 5 | g.127396723A>C | CA360719013 | MEGF10 | c.604A>C (p.Thr202Pro) c.769A>C (p.Thr257Pro) | gnomAD v4 |
| 5 | g.127396723A>G | CA3391339 | MEGF10 | c.604A>G (p.Thr202Ala) c.769A>G (p.Thr257Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396723A>T | CA360719017 | MEGF10 | c.604A>T (p.Thr202Ser) c.769A>T (p.Thr257Ser) | |
| 5 | g.127396724C>A | CA360719023 | MEGF10 | c.605C>A (p.Thr202Asn) c.770C>A (p.Thr257Asn) | |
| 5 | g.127396724C= | CA1580839452 | MEGF10 | c.605C= (p.Thr202=) c.770C= (p.Thr257=) | |
| 5 | g.127396724C>G | CA360719031 | MEGF10 | c.605C>G (p.Thr202Ser) c.770C>G (p.Thr257Ser) | |
| 5 | g.127396724C>T | CA126930229 | MEGF10 | c.605C>T (p.Thr202Ile) c.770C>T (p.Thr257Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396725C>A | CA446491081 | MEGF10 | c.606C>A (p.Thr202=) c.771C>A (p.Thr257=) | |
| 5 | g.127396725C= | CA1580839453 | MEGF10 | c.606C= (p.Thr202=) c.771C= (p.Thr257=) | |
| 5 | g.127396725C>G | CA446491082 | MEGF10 | c.606C>G (p.Thr202=) c.771C>G (p.Thr257=) | |
| 5 | g.127396725C>T | CA3391340 | MEGF10 | c.606C>T (p.Thr202=) c.771C>T (p.Thr257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396726T>A | CA360719041 | MEGF10 | c.607T>A (p.Cys203Ser) c.772T>A (p.Cys258Ser) | |
| 5 | g.127396726T>C | CA360719044 | MEGF10 | c.607T>C (p.Cys203Arg) c.772T>C (p.Cys258Arg) | |
| 5 | g.127396726T>G | CA360719045 | MEGF10 | c.607T>G (p.Cys203Gly) c.772T>G (p.Cys258Gly) | gnomAD v4 |
| 5 | g.127396727G>A | CA360719051 | MEGF10 | c.608G>A (p.Cys203Tyr) c.773G>A (p.Cys258Tyr) | |
| 5 | g.127396727G>C | CA360719052 | MEGF10 | c.608G>C (p.Cys203Ser) c.773G>C (p.Cys258Ser) | dbSNP |
| 5 | g.127396727G= | CA1580839454 | MEGF10 | c.608G= (p.Cys203=) c.773G= (p.Cys258=) | |
| 5 | g.127396727G>T | CA360719053 | MEGF10 | c.608G>T (p.Cys203Phe) c.773G>T (p.Cys258Phe) | |
| 5 | g.127396728C>A | CA360719055 | MEGF10 | c.609C>A (p.Cys203Ter) c.774C>A (p.Cys258Ter) | gnomAD v4 |
| 5 | g.127396728C= | CA1580839455 | MEGF10 | c.609C= (p.Cys203=) c.774C= (p.Cys258=) | |
| 5 | g.127396728C>G | CA360719061 | MEGF10 | c.609C>G (p.Cys203Trp) c.774C>G (p.Cys258Trp) | |
| 5 | g.127396728C>T | CA3391341 | MEGF10 | c.609C>T (p.Cys203=) c.774C>T (p.Cys258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396729G>A | CA3391342 | MEGF10 | c.610G>A (p.Asp204Asn) c.775G>A (p.Asp259Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396729G>C | CA360719086 | MEGF10 | c.610G>C (p.Asp204His) c.775G>C (p.Asp259His) | |
| 5 | g.127396729G= | CA1580839456 | MEGF10 | c.610G= (p.Asp204=) c.775G= (p.Asp259=) | |
| 5 | g.127396729G>T | CA360719097 | MEGF10 | c.610G>T (p.Asp204Tyr) c.775G>T (p.Asp259Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127396730A>C | CA360719099 | MEGF10 | c.611A>C (p.Asp204Ala) c.776A>C (p.Asp259Ala) | |
| 5 | g.127396730A>G | CA360719100 | MEGF10 | c.611A>G (p.Asp204Gly) c.776A>G (p.Asp259Gly) | |
| 5 | g.127396730A>T | CA360719101 | MEGF10 | c.611A>T (p.Asp204Val) c.776A>T (p.Asp259Val) | |
| 5 | g.127396731C>A | CA360719110 | MEGF10 | c.612C>A (p.Asp204Glu) c.777C>A (p.Asp259Glu) | dbSNP gnomAD v4 |
| 5 | g.127396731C= | CA1580839457 | MEGF10 | c.612C= (p.Asp204=) c.777C= (p.Asp259=) | |
| 5 | g.127396731C>G | CA360719108 | MEGF10 | c.612C>G (p.Asp204Glu) c.777C>G (p.Asp259Glu) | |
| 5 | g.127396731C>T | CA446491083 | MEGF10 | c.612C>T (p.Asp204=) c.777C>T (p.Asp259=) | dbSNP gnomAD v4 COSMIC |
| 5 | g.127396732C>A | CA360719115 | MEGF10 | c.613C>A (p.His205Asn) c.778C>A (p.His260Asn) | |
| 5 | g.127396732C>G | CA360719125 | MEGF10 | c.613C>G (p.His205Asp) c.778C>G (p.His260Asp) | |
| 5 | g.127396732C>T | CA360719142 | MEGF10 | c.613C>T (p.His205Tyr) c.778C>T (p.His260Tyr) | |
| 5 | g.127396733A>C | CA360719146 | MEGF10 | c.614A>C (p.His205Pro) c.779A>C (p.His260Pro) | |
| 5 | g.127396733A>G | CA360719147 | MEGF10 | c.614A>G (p.His205Arg) c.779A>G (p.His260Arg) | |
| 5 | g.127396733A>T | CA360719148 | MEGF10 | c.614A>T (p.His205Leu) c.779A>T (p.His260Leu) | |
| 5 | g.127396734C>A | CA360719172 | MEGF10 | c.615C>A (p.His205Gln) c.780C>A (p.His260Gln) | |
| 5 | g.127396734C= | CA1580839458 | MEGF10 | c.615C= (p.His205=) c.780C= (p.His260=) | |
| 5 | g.127396734C>G | CA360719151 | MEGF10 | c.615C>G (p.His205Gln) c.780C>G (p.His260Gln) | dbSNP |
| 5 | g.127396734C>T | CA3391343 | MEGF10 | c.615C>T (p.His205=) c.780C>T (p.His260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396735G>A | CA3391344 | MEGF10 | c.616G>A (p.Val206Ile) c.781G>A (p.Val261Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396735G>C | CA360719181 | MEGF10 | c.616G>C (p.Val206Leu) c.781G>C (p.Val261Leu) | |
| 5 | g.127396735G= | CA1580839459 | MEGF10 | c.616G= (p.Val206=) c.781G= (p.Val261=) | |
| 5 | g.127396735G>T | CA360719185 | MEGF10 | c.616G>T (p.Val206Phe) c.781G>T (p.Val261Phe) | |
| 5 | g.127396736T>A | CA360719190 | MEGF10 | c.617T>A (p.Val206Asp) c.782T>A (p.Val261Asp) | |
| 5 | g.127396736T>C | CA360719191 | MEGF10 | c.617T>C (p.Val206Ala) c.782T>C (p.Val261Ala) | gnomAD v4 |
| 5 | g.127396736T>G | CA360719210 | MEGF10 | c.617T>G (p.Val206Gly) c.782T>G (p.Val261Gly) | |
| 5 | g.127396737C>A | CA446491084 | MEGF10 | c.618C>A (p.Val206=) c.783C>A (p.Val261=) | |
| 5 | g.127396737C>G | CA446491085 | MEGF10 | c.618C>G (p.Val206=) c.783C>G (p.Val261=) | |
| 5 | g.127396737C>T | CA446491086 | MEGF10 | c.618C>T (p.Val206=) c.783C>T (p.Val261=) | |
| 5 | g.127396738A>C | CA360719215 | MEGF10 | c.619A>C (p.Thr207Pro) c.784A>C (p.Thr262Pro) | |
| 5 | g.127396738A>G | CA360719217 | MEGF10 | c.619A>G (p.Thr207Ala) c.784A>G (p.Thr262Ala) | |
| 5 | g.127396738A>T | CA360719218 | MEGF10 | c.619A>T (p.Thr207Ser) c.784A>T (p.Thr262Ser) | |
| 5 | g.127396739C>A | CA360719222 | MEGF10 | c.620C>A (p.Thr207Lys) c.785C>A (p.Thr262Lys) | |
| 5 | g.127396739C= | CA1580839461 | MEGF10 | c.620C= (p.Thr207=) c.785C= (p.Thr262=) | |
| 5 | g.127396739C>G | CA360719231 | MEGF10 | c.620C>G (p.Thr207Arg) c.785C>G (p.Thr262Arg) | |
| 5 | g.127396739C>T | CA3391345 | MEGF10 | c.620C>T (p.Thr207Met) c.785C>T (p.Thr262Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396740G>A | CA3391346 | MEGF10 | c.621G>A (p.Thr207=) c.786G>A (p.Thr262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127396740G>C | CA446491088 | MEGF10 | c.621G>C (p.Thr207=) c.786G>C (p.Thr262=) | |
| 5 | g.127396740G= | CA1580839463 | MEGF10 | c.621G= (p.Thr207=) c.786G= (p.Thr262=) | |
| 5 | g.127396740G>T | CA446491087 | MEGF10 | c.621G>T (p.Thr207=) c.786G>T (p.Thr262=) | |
| 5 | g.127396741G>A | CA360719235 | MEGF10 | c.622G>A (p.Gly208Arg) c.787G>A (p.Gly263Arg) | ClinVar |
| 5 | g.127396741G>C | CA360719266 | MEGF10 | c.622G>C (p.Gly208Arg) c.787G>C (p.Gly263Arg) | |
| 5 | g.127396741G>T | CA360719243 | MEGF10 | c.622G>T (p.Gly208Trp) c.787G>T (p.Gly263Trp) | |
| 5 | g.127396742G>A | CA360719270 | MEGF10 | c.623G>A (p.Gly208Glu) c.788G>A (p.Gly263Glu) | |
| 5 | g.127396742G>C | CA360719285 | MEGF10 | c.623G>C (p.Gly208Ala) c.788G>C (p.Gly263Ala) | ClinVar gnomAD v4 |
| 5 | g.127396742G>T | CA360719288 | MEGF10 | c.623G>T (p.Gly208Val) c.788G>T (p.Gly263Val) | |
| 5 | g.127396743G>A | CA446491089 | MEGF10 | c.624G>A (p.Gly208=) c.789G>A (p.Gly263=) | |
| 5 | g.127396743G>C | CA446491090 | MEGF10 | c.624G>C (p.Gly208=) c.789G>C (p.Gly263=) | |
| 5 | g.127396743G>T | CA446491091 | MEGF10 | c.624G>T (p.Gly208=) c.789G>T (p.Gly263=) | |
| 5 | g.127396744G>A | CA360719292 | MEGF10 | c.625G>A (p.Glu209Lys) c.790G>A (p.Glu264Lys) | |
| 5 | g.127396744G>C | CA360719293 | MEGF10 | c.625G>C (p.Glu209Gln) c.790G>C (p.Glu264Gln) | |
| 5 | g.127396744G= | CA1580839467 | MEGF10 | c.625G= (p.Glu209=) c.790G= (p.Glu264=) | |
| 5 | g.127396744G>T | CA16618105 | MEGF10 | c.625G>T (p.Glu209Ter) c.790G>T (p.Glu264Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127396745A>C | CA360719299 | MEGF10 | c.626A>C (p.Glu209Ala) c.791A>C (p.Glu264Ala) | |
| 5 | g.127396745A>G | CA360719297 | MEGF10 | c.626A>G (p.Glu209Gly) c.791A>G (p.Glu264Gly) | dbSNP |
| 5 | g.127396745A>T | CA360719298 | MEGF10 | c.626A>T (p.Glu209Val) c.791A>T (p.Glu264Val) | |
| 5 | g.127396746A>C | CA360719302 | MEGF10 | c.627A>C (p.Glu209Asp) c.792A>C (p.Glu264Asp) | |
| 5 | g.127396746A>G | CA446491092 | MEGF10 | c.627A>G (p.Glu209=) c.792A>G (p.Glu264=) | |
| 5 | g.127396746A>T | CA360719305 | MEGF10 | c.627A>T (p.Glu209Asp) c.792A>T (p.Glu264Asp) | |
| 5 | g.127396747T>A | CA360719307 | MEGF10 | c.628T>A (p.Cys210Ser) c.793T>A (p.Cys265Ser) | |
| 5 | g.127396747T>C | CA360719313 | MEGF10 | c.628T>C (p.Cys210Arg) c.793T>C (p.Cys265Arg) | |
| 5 | g.127396747T>G | CA360719315 | MEGF10 | c.628T>G (p.Cys210Gly) c.793T>G (p.Cys265Gly) | |
| 5 | g.127396748G>A | CA360719316 | MEGF10 | c.629G>A (p.Cys210Tyr) c.794G>A (p.Cys265Tyr) | |
| 5 | g.127396748G>C | CA360719327 | MEGF10 | c.629G>C (p.Cys210Ser) c.794G>C (p.Cys265Ser) | |
| 5 | g.127396748G>T | CA360719320 | MEGF10 | c.629G>T (p.Cys210Phe) c.794G>T (p.Cys265Phe) | COSMIC |
| 5 | g.127396749C>A | CA360719336 | MEGF10 | c.630C>A (p.Cys210Ter) c.795C>A (p.Cys265Ter) | |
| 5 | g.127396749C>G | CA360719339 | MEGF10 | c.630C>G (p.Cys210Trp) c.795C>G (p.Cys265Trp) | |
| 5 | g.127396749C>T | CA446491093 | MEGF10 | c.630C>T (p.Cys210=) c.795C>T (p.Cys265=) | gnomAD v4 |
| 5 | g.127396750C>A | CA360719342 | MEGF10 | c.631C>A (p.Arg211Ser) c.796C>A (p.Arg266Ser) | |
| 5 | g.127396750C= | CA1580839474 | MEGF10 | c.631C= (p.Arg211=) c.796C= (p.Arg266=) | |
| 5 | g.127396750C>G | CA360719350 | MEGF10 | c.631C>G (p.Arg211Gly) c.796C>G (p.Arg266Gly) | |
| 5 | g.127396750C>T | CA3391347 | MEGF10 | c.631C>T (p.Arg211Cys) c.796C>T (p.Arg266Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396750_127396751insTT | CA2560608289 | MEGF10 | c.631_632insTT (p.Arg211LeufsTer?) c.796_797insTT (p.Arg266LeufsTer?) | |
| 5 | g.127396751G>A | CA3391348 | MEGF10 | c.632G>A (p.Arg211His) c.797G>A (p.Arg266His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396751G>C | CA3391349 | MEGF10 | c.632G>C (p.Arg211Pro) c.797G>C (p.Arg266Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396751G= | CA1580839479 | MEGF10 | c.632G= (p.Arg211=) c.797G= (p.Arg266=) | |
| 5 | g.127396751G>T | CA360719371 | MEGF10 | c.632G>T (p.Arg211Leu) c.797G>T (p.Arg266Leu) | COSMIC |
| 5 | g.127396752C>A | CA446491094 | MEGF10 | c.633C>A (p.Arg211=) c.798C>A (p.Arg266=) | |
| 5 | g.127396752C>G | CA446491095 | MEGF10 | c.633C>G (p.Arg211=) c.798C>G (p.Arg266=) | |
| 5 | g.127396752C>T | CA446491096 | MEGF10 | c.633C>T (p.Arg211=) c.798C>T (p.Arg266=) | |
| 5 | g.127396753T>A | CA360719377 | MEGF10 | c.634T>A (p.Cys212Ser) c.799T>A (p.Cys267Ser) | |
| 5 | g.127396753T>C | CA360719378 | MEGF10 | c.634T>C (p.Cys212Arg) c.799T>C (p.Cys267Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396753T>G | CA360719379 | MEGF10 | c.634T>G (p.Cys212Gly) c.799T>G (p.Cys267Gly) | |
| 5 | g.127396753T= | CA1580839482 | MEGF10 | c.634T= (p.Cys212=) c.799T= (p.Cys267=) |