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.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=) | |
| 5 | g.127396754G>A | CA360719386 | MEGF10 | c.635G>A (p.Cys212Tyr) c.800G>A (p.Cys267Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127396754G>C | CA360719390 | MEGF10 | c.635G>C (p.Cys212Ser) c.800G>C (p.Cys267Ser) | |
| 5 | g.127396754G= | CA1580839485 | MEGF10 | c.635G= (p.Cys212=) c.800G= (p.Cys267=) | |
| 5 | g.127396754G>T | CA360719388 | MEGF10 | c.635G>T (p.Cys212Phe) c.800G>T (p.Cys267Phe) | |
| 5 | g.127396755C>A | CA360719392 | MEGF10 | c.636C>A (p.Cys212Ter) c.801C>A (p.Cys267Ter) | |
| 5 | g.127396755C>G | CA360719396 | MEGF10 | c.636C>G (p.Cys212Trp) c.801C>G (p.Cys267Trp) | |
| 5 | g.127396755C>T | CA446491097 | MEGF10 | c.636C>T (p.Cys212=) c.801C>T (p.Cys267=) | |
| 5 | g.127396756C>A | CA360719402 | MEGF10 | c.637C>A (p.Pro213Thr) c.802C>A (p.Pro268Thr) | |
| 5 | g.127396756C>G | CA360719405 | MEGF10 | c.637C>G (p.Pro213Ala) c.802C>G (p.Pro268Ala) | |
| 5 | g.127396756C>T | CA360719404 | MEGF10 | c.637C>T (p.Pro213Ser) c.802C>T (p.Pro268Ser) | COSMIC |
| 5 | g.127396757C>A | CA360719407 | MEGF10 | c.638C>A (p.Pro213Gln) c.803C>A (p.Pro268Gln) | |
| 5 | g.127396757C= | CA1580839486 | MEGF10 | c.638C= (p.Pro213=) c.803C= (p.Pro268=) | |
| 5 | g.127396757C>G | CA360719413 | MEGF10 | c.638C>G (p.Pro213Arg) c.803C>G (p.Pro268Arg) | |
| 5 | g.127396757C>T | CA360719412 | MEGF10 | c.638C>T (p.Pro213Leu) c.803C>T (p.Pro268Leu) | dbSNP gnomAD v4 |
| 5 | g.127396758A>C | CA446491098 | MEGF10 | c.639A>C (p.Pro213=) c.804A>C (p.Pro268=) | |
| 5 | g.127396758A>G | CA446491099 | MEGF10 | c.639A>G (p.Pro213=) c.804A>G (p.Pro268=) | |
| 5 | g.127396758A>T | CA446491100 | MEGF10 | c.639A>T (p.Pro213=) c.804A>T (p.Pro268=) | |
| 5 | g.127396759C>A | CA360719414 | MEGF10 | c.640C>A (p.Pro214Thr) c.805C>A (p.Pro269Thr) | |
| 5 | g.127396759C= | CA1580839489 | MEGF10 | c.640C= (p.Pro214=) c.805C= (p.Pro269=) | |
| 5 | g.127396759C>G | CA360719415 | MEGF10 | c.640C>G (p.Pro214Ala) c.805C>G (p.Pro269Ala) | |
| 5 | g.127396759C>T | CA3391350 | MEGF10 | c.640C>T (p.Pro214Ser) c.805C>T (p.Pro269Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396760C>A | CA360719423 | MEGF10 | c.641C>A (p.Pro214Gln) c.806C>A (p.Pro269Gln) | |
| 5 | g.127396760C= | CA1580839492 | MEGF10 | c.641C= (p.Pro214=) c.806C= (p.Pro269=) | |
| 5 | g.127396760C>G | CA360719428 | MEGF10 | c.641C>G (p.Pro214Arg) c.806C>G (p.Pro269Arg) | |
| 5 | g.127396760C>T | CA3391351 | MEGF10 | c.641C>T (p.Pro214Leu) c.806C>T (p.Pro269Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396761A>C | CA446491101 | MEGF10 | c.642A>C (p.Pro214=) c.807A>C (p.Pro269=) | |
| 5 | g.127396761A>G | CA446491102 | MEGF10 | c.642A>G (p.Pro214=) c.807A>G (p.Pro269=) | |
| 5 | g.127396761A>T | CA446491103 | MEGF10 | c.642A>T (p.Pro214=) c.807A>T (p.Pro269=) | |
| 5 | g.127396762G>A | CA360719434 | MEGF10 | c.643G>A (p.Gly215Arg) c.808G>A (p.Gly270Arg) | |
| 5 | g.127396762G>C | CA360719438 | MEGF10 | c.643G>C (p.Gly215Arg) c.808G>C (p.Gly270Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127396762G= | CA1580839494 | MEGF10 | c.643G= (p.Gly215=) c.808G= (p.Gly270=) | |
| 5 | g.127396762G>T | CA360719444 | MEGF10 | c.643G>T (p.Gly215Ter) c.808G>T (p.Gly270Ter) | |
| 5 | g.127396763G>A | CA360719448 | MEGF10 | c.644G>A (p.Gly215Glu) c.809G>A (p.Gly270Glu) | |
| 5 | g.127396763G>C | CA360719449 | MEGF10 | c.644G>C (p.Gly215Ala) c.809G>C (p.Gly270Ala) | gnomAD v4 |
| 5 | g.127396763G>T | CA360719450 | MEGF10 | c.644G>T (p.Gly215Val) c.809G>T (p.Gly270Val) | |
| 5 | g.127396764A>C | CA446491104 | MEGF10 | c.645A>C (p.Gly215=) c.810A>C (p.Gly270=) | |
| 5 | g.127396764A>G | CA446491105 | MEGF10 | c.645A>G (p.Gly215=) c.810A>G (p.Gly270=) | |
| 5 | g.127396764A>T | CA446491106 | MEGF10 | c.645A>T (p.Gly215=) c.810A>T (p.Gly270=) | gnomAD v4 |
| 5 | g.127396765T>A | CA360719459 | MEGF10 | c.646T>A (p.Tyr216Asn) c.811T>A (p.Tyr271Asn) | |
| 5 | g.127396765T>C | CA360719454 | MEGF10 | c.646T>C (p.Tyr216His) c.811T>C (p.Tyr271His) | |
| 5 | g.127396765T>G | CA360719452 | MEGF10 | c.646T>G (p.Tyr216Asp) c.811T>G (p.Tyr271Asp) | |
| 5 | g.127396766A= | CA1580839496 | MEGF10 | c.647A= (p.Tyr216=) c.812A= (p.Tyr271=) | |
| 5 | g.127396766A>C | CA360719478 | MEGF10 | c.647A>C (p.Tyr216Ser) c.812A>C (p.Tyr271Ser) | |
| 5 | g.127396766A>G | CA360719480 | MEGF10 | c.647A>G (p.Tyr216Cys) c.812A>G (p.Tyr271Cys) | dbSNP |
| 5 | g.127396766A>T | CA360719481 | MEGF10 | c.647A>T (p.Tyr216Phe) c.812A>T (p.Tyr271Phe) | |
| 5 | g.127396767C>A | CA360719484 | MEGF10 | c.648C>A (p.Tyr216Ter) c.813C>A (p.Tyr271Ter) | |
| 5 | g.127396767C= | CA1580839498 | MEGF10 | c.648C= (p.Tyr216=) c.813C= (p.Tyr271=) | |
| 5 | g.127396767C>G | CA360719486 | MEGF10 | c.648C>G (p.Tyr216Ter) c.813C>G (p.Tyr271Ter) | |
| 5 | g.127396767C>T | CA3391352 | MEGF10 | c.648C>T (p.Tyr216=) c.813C>T (p.Tyr271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396768A>C | CA360719492 | MEGF10 | c.649A>C (p.Thr217Pro) c.814A>C (p.Thr272Pro) | |
| 5 | g.127396768A>G | CA360719496 | MEGF10 | c.649A>G (p.Thr217Ala) c.814A>G (p.Thr272Ala) | |
| 5 | g.127396768A>T | CA360719497 | MEGF10 | c.649A>T (p.Thr217Ser) c.814A>T (p.Thr272Ser) | |
| 5 | g.127396769C>A | CA360719500 | MEGF10 | c.650C>A (p.Thr217Asn) c.815C>A (p.Thr272Asn) | |
| 5 | g.127396769C>G | CA360719501 | MEGF10 | c.650C>G (p.Thr217Ser) c.815C>G (p.Thr272Ser) | gnomAD v4 |
| 5 | g.127396769C>T | CA360719503 | MEGF10 | c.650C>T (p.Thr217Ile) c.815C>T (p.Thr272Ile) | gnomAD v4 COSMIC |
| 5 | g.127396770C>A | CA446491107 | MEGF10 | c.651C>A (p.Thr217=) c.816C>A (p.Thr272=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127396770C= | CA1580839503 | MEGF10 | c.651C= (p.Thr217=) c.816C= (p.Thr272=) | |
| 5 | g.127396770C>G | CA446491108 | MEGF10 | c.651C>G (p.Thr217=) c.816C>G (p.Thr272=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127396770C>T | CA3391353 | MEGF10 | c.651C>T (p.Thr217=) c.816C>T (p.Thr272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127396771G>A | CA3391354 | MEGF10 | c.652G>A (p.Gly218Arg) c.817G>A (p.Gly273Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396771G>C | CA360719518 | MEGF10 | c.652G>C (p.Gly218Arg) c.817G>C (p.Gly273Arg) | |
| 5 | g.127396771G= | CA1580839509 | MEGF10 | c.652G= (p.Gly218=) c.817G= (p.Gly273=) | |
| 5 | g.127396771G>T | CA360719511 | MEGF10 | c.652G>T (p.Gly218Ter) c.817G>T (p.Gly273Ter) | |
| 5 | g.127396772G>A | CA360719524 | MEGF10 | c.653G>A (p.Gly218Glu) c.818G>A (p.Gly273Glu) | |
| 5 | g.127396772G>C | CA360719538 | MEGF10 | c.653G>C (p.Gly218Ala) c.818G>C (p.Gly273Ala) | gnomAD v4 |
| 5 | g.127396772G>T | CA360719544 | MEGF10 | c.653G>T (p.Gly218Val) c.818G>T (p.Gly273Val) | |
| 5 | g.127396772_127396776del | CA645563471 | MEGF10 | c.653_657del (p.Gly218ValfsTer3) c.818_822del (p.Gly273ValfsTer3) | COSMIC |
| 5 | g.127396773A= | CA1580839511 | MEGF10 | c.654A= (p.Gly218=) c.819A= (p.Gly273=) | |
| 5 | g.127396773A>C | CA446491109 | MEGF10 | c.654A>C (p.Gly218=) c.819A>C (p.Gly273=) | |
| 5 | g.127396773A>G | CA3391355 | MEGF10 | c.654A>G (p.Gly218=) c.819A>G (p.Gly273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396773A>T | CA446491110 | MEGF10 | c.654A>T (p.Gly218=) c.819A>T (p.Gly273=) | |
| 5 | g.127396774G>A | CA360719555 | MEGF10 | c.655G>A (p.Ala219Thr) c.820G>A (p.Ala274Thr) | |
| 5 | g.127396774G>C | CA360719570 | MEGF10 | c.655G>C (p.Ala219Pro) c.820G>C (p.Ala274Pro) | |
| 5 | g.127396774G>T | CA360719574 | MEGF10 | c.655G>T (p.Ala219Ser) c.820G>T (p.Ala274Ser) | COSMIC |
| 5 | g.127396775C>A | CA360719580 | MEGF10 | c.656C>A (p.Ala219Asp) c.821C>A (p.Ala274Asp) | gnomAD v4 |
| 5 | g.127396775C= | CA1580839515 | MEGF10 | c.656C= (p.Ala219=) c.821C= (p.Ala274=) | |
| 5 | g.127396775C>G | CA360719583 | MEGF10 | c.656C>G (p.Ala219Gly) c.821C>G (p.Ala274Gly) | |
| 5 | g.127396775C>T | CA126930379 | MEGF10 | c.656C>T (p.Ala219Val) c.821C>T (p.Ala274Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396776C>A | CA446491113 | MEGF10 | c.657C>A (p.Ala219=) c.822C>A (p.Ala274=) | |
| 5 | g.127396776C>G | CA446491111 | MEGF10 | c.657C>G (p.Ala219=) c.822C>G (p.Ala274=) | |
| 5 | g.127396776C>T | CA446491112 | MEGF10 | c.657C>T (p.Ala219=) c.822C>T (p.Ala274=) | |
| 5 | g.127396777T>A | CA360719602 | MEGF10 | c.658T>A (p.Phe220Ile) c.823T>A (p.Phe275Ile) | |
| 5 | g.127396777T>C | CA360719607 | MEGF10 | c.658T>C (p.Phe220Leu) c.823T>C (p.Phe275Leu) | |
| 5 | g.127396777T>G | CA360719611 | MEGF10 | c.658T>G (p.Phe220Val) c.823T>G (p.Phe275Val) | |
| 5 | g.127396778T>A | CA360719619 | MEGF10 | c.659T>A (p.Phe220Tyr) c.824T>A (p.Phe275Tyr) | |
| 5 | g.127396778T>C | CA360719627 | MEGF10 | c.659T>C (p.Phe220Ser) c.824T>C (p.Phe275Ser) | |
| 5 | g.127396778T>G | CA360719623 | MEGF10 | c.659T>G (p.Phe220Cys) c.824T>G (p.Phe275Cys) | |
| 5 | g.127396779G>A | CA360719630 | MEGF10 | c.659+1G>A (n.659+1G>A) c.824+1G>A (n.824+1G>A) | |
| 5 | g.127396779G>C | CA360719642 | MEGF10 | c.659+1G>C (n.659+1G>C) c.824+1G>C (n.824+1G>C) | |
| 5 | g.127396779G>T | CA360719647 | MEGF10 | c.659+1G>T (n.659+1G>T) c.824+1G>T (n.824+1G>T) | |
| 5 | g.127396780T>A | CA360719651 | MEGF10 | c.659+2T>A (n.659+2T>A) c.824+2T>A (n.824+2T>A) | |
| 5 | g.127396780T>C | CA360719654 | MEGF10 | c.659+2T>C (n.659+2T>C) c.824+2T>C (n.824+2T>C) | |
| 5 | g.127396780T>G | CA360719656 | MEGF10 | c.659+2T>G (n.659+2T>G) c.824+2T>G (n.824+2T>G) | |
| 5 | g.127396785C>A | CA3391356 | MEGF10 | c.659+7C>A (n.659+7C>A) c.824+7C>A (n.824+7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396785C= | CA1580839517 | MEGF10 | c.659+7C= (n.659+7C=) c.824+7C= (n.824+7C=) | |
| 5 | g.127396787C>T | CA2709952344 | MEGF10 | c.659+9C>T (n.659+9C>T) c.824+9C>T (n.824+9C>T) | dbSNP |
| 5 | g.127396788A= | CA1580839521 | MEGF10 | c.659+10A= (n.659+10A=) c.824+10A= (n.824+10A=) | |
| 5 | g.127396788A>G | CA126930395 | MEGF10 | c.659+10A>G (n.659+10A>G) c.824+10A>G (n.824+10A>G) | dbSNP gnomAD v4 |
| 5 | g.127396788A>T | CA126930401 | MEGF10 | c.659+10A>T (n.659+10A>T) c.824+10A>T (n.824+10A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396789T>A | CA2578393846 | MEGF10 | c.659+11T>A (n.659+11T>A) c.824+11T>A (n.824+11T>A) | |
| 5 | g.127396789T>C | CA2675087241 | MEGF10 | c.659+11T>C (n.659+11T>C) c.824+11T>C (n.824+11T>C) | gnomAD v4 |
| 5 | g.127396793G>A | CA3391357 | MEGF10 | c.659+15G>A (n.659+15G>A) c.824+15G>A (n.824+15G>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.127396793G= | CA1580839525 | MEGF10 | c.659+15G= (n.659+15G=) c.824+15G= (n.824+15G=) | |
| 5 | g.127396793G>T | CA2740680502 | MEGF10 | c.659+15G>T (n.659+15G>T) c.824+15G>T (n.824+15G>T) | |
| 5 | g.127396794C>T | CA2580072531 | MEGF10 | c.659+16C>T (n.659+16C>T) c.824+16C>T (n.824+16C>T) | ClinVar |
| 5 | g.127396796del | CA2675087242 | MEGF10 | c.659+18del (n.659+18del) c.824+18del (n.824+18del) | gnomAD v4 |
| 5 | g.127396795C>A | CA2675087243 | MEGF10 | c.659+17C>A (n.659+17C>A) c.824+17C>A (n.824+17C>A) | gnomAD v4 |
| 5 | g.127396795C= | CA1580839528 | MEGF10 | c.659+17C= (n.659+17C=) c.824+17C= (n.824+17C=) | |
| 5 | g.127396795C>G | CA3391358 | MEGF10 | c.659+17C>G (n.659+17C>G) c.824+17C>G (n.824+17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396795C>T | CA2675087244 | MEGF10 | c.659+17C>T (n.659+17C>T) c.824+17C>T (n.824+17C>T) | gnomAD v4 |
| 5 | g.127396796C= | CA1580839530 | MEGF10 | c.659+18C= (n.659+18C=) c.824+18C= (n.824+18C=) | |
| 5 | g.127396796C>G | CA2578393847 | MEGF10 | c.659+18C>G (n.659+18C>G) c.824+18C>G (n.824+18C>G) | gnomAD v4 |
| 5 | g.127396796C>T | CA3391359 | MEGF10 | c.659+18C>T (n.659+18C>T) c.824+18C>T (n.824+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396797A>C | CA2675087245 | MEGF10 | c.659+19A>C (n.659+19A>C) c.824+19A>C (n.824+19A>C) | gnomAD v4 |
| 5 | g.127396797A>G | CA2675087246 | MEGF10 | c.659+19A>G (n.659+19A>G) c.824+19A>G (n.824+19A>G) | gnomAD v4 |
| 5 | g.127396800A>C | CA2578393849 | MEGF10 | c.659+22A>C (n.659+22A>C) c.824+22A>C (n.824+22A>C) | |
| 5 | g.127396800A>G | CA2675087247 | MEGF10 | c.659+22A>G (n.659+22A>G) c.824+22A>G (n.824+22A>G) | gnomAD v4 |
| 5 | g.127396808_127396812del | CA2578393848 | MEGF10 | c.659+30_659+34del (n.659+30_659+34del) c.824+30_824+34del (n.824+30_824+34del) | |
| 5 | g.127396801G>A | CA3391361 | MEGF10 | c.659+23G>A (n.659+23G>A) c.824+23G>A (n.824+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396801G= | CA1580839533 | MEGF10 | c.659+23G= (n.659+23G=) c.824+23G= (n.824+23G=) | |
| 5 | g.127396801G>T | CA3391360 | MEGF10 | c.659+23G>T (n.659+23G>T) c.824+23G>T (n.824+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396802C>A | CA3391362 | MEGF10 | c.659+24C>A (n.659+24C>A) c.824+24C>A (n.824+24C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.127396802C= | CA1580839536 | MEGF10 | c.659+24C= (n.659+24C=) c.824+24C= (n.824+24C=) | |
| 5 | g.127396802C>G | CA3391363 | MEGF10 | c.659+24C>G (n.659+24C>G) c.824+24C>G (n.824+24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396802C>T | CA2675087248 | MEGF10 | c.659+24C>T (n.659+24C>T) c.824+24C>T (n.824+24C>T) | gnomAD v4 |
| 5 | g.127396804G>C | CA2675087249 | MEGF10 | c.659+26G>C (n.659+26G>C) c.824+26G>C (n.824+26G>C) | gnomAD v4 |
| 5 | g.127396805A>G | CA2709952375 | MEGF10 | c.659+27A>G (n.659+27A>G) c.824+27A>G (n.824+27A>G) | dbSNP |
| 5 | g.127396807C>A | CA2675087250 | MEGF10 | c.659+29C>A (n.659+29C>A) c.824+29C>A (n.824+29C>A) | gnomAD v4 |
| 5 | g.127396807C>T | CA2675087251 | MEGF10 | c.659+29C>T (n.659+29C>T) c.824+29C>T (n.824+29C>T) | gnomAD v4 |
| 5 | g.127396808A>T | CA650267332 | MEGF10 | c.659+30A>T (n.659+30A>T) c.824+30A>T (n.824+30A>T) | COSMIC |
| 5 | g.127396811G>A | CA3391364 | MEGF10 | c.659+33G>A (n.659+33G>A) c.824+33G>A (n.824+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396811G= | CA1580839539 | MEGF10 | c.659+33G= (n.659+33G=) c.824+33G= (n.824+33G=) | |
| 5 | g.127396812C>A | CA2675087252 | MEGF10 | c.659+34C>A (n.659+34C>A) c.824+34C>A (n.824+34C>A) | gnomAD v4 |
| 5 | g.127396814C>A | CA2675087253 | MEGF10 | c.659+36C>A (n.659+36C>A) c.824+36C>A (n.824+36C>A) | gnomAD v4 |
| 5 | g.127396814C>T | CA2675087254 | MEGF10 | c.659+36C>T (n.659+36C>T) c.824+36C>T (n.824+36C>T) | gnomAD v4 |
| 5 | g.127396815A= | CA1580839541 | MEGF10 | c.659+37A= (n.659+37A=) c.824+37A= (n.824+37A=) | |
| 5 | g.127396815A>C | CA1580839542 | MEGF10 | c.659+37A>C (n.659+37A>C) c.824+37A>C (n.824+37A>C) | dbSNP |
| 5 | g.127396816C>A | CA1580839544 | MEGF10 | c.659+38C>A (n.659+38C>A) c.824+38C>A (n.824+38C>A) | dbSNP gnomAD v4 |
| 5 | g.127396816C= | CA1580839543 | MEGF10 | c.659+38C= (n.659+38C=) c.824+38C= (n.824+38C=) | |
| 5 | g.127396816C>T | CA2675087255 | MEGF10 | c.659+38C>T (n.659+38C>T) c.824+38C>T (n.824+38C>T) | gnomAD v4 |
| 5 | g.127396817C= | CA1580839546 | MEGF10 | c.659+39C= (n.659+39C=) c.824+39C= (n.824+39C=) | |
| 5 | g.127396817C>T | CA126930456 | MEGF10 | c.659+39C>T (n.659+39C>T) c.824+39C>T (n.824+39C>T) | dbSNP |
| 5 | g.127396818C>A | CA2675087256 | MEGF10 | c.659+40C>A (n.659+40C>A) c.824+40C>A (n.824+40C>A) | gnomAD v4 |
| 5 | g.127396818C= | CA1580839549 | MEGF10 | c.659+40C= (n.659+40C=) c.824+40C= (n.824+40C=) | |
| 5 | g.127396818C>T | CA1580839550 | MEGF10 | c.659+40C>T (n.659+40C>T) c.824+40C>T (n.824+40C>T) | dbSNP |
| 5 | g.127396819A= | CA1580839552 | MEGF10 | c.659+41A= (n.659+41A=) c.824+41A= (n.824+41A=) | |
| 5 | g.127396819A>C | CA1580839553 | MEGF10 | c.659+41A>C (n.659+41A>C) c.824+41A>C (n.824+41A>C) | dbSNP |
| 5 | g.127396819A>G | CA2675087257 | MEGF10 | c.659+41A>G (n.659+41A>G) c.824+41A>G (n.824+41A>G) | gnomAD v4 |
| 5 | g.127396821C>A | CA2675087258 | MEGF10 | c.659+43C>A (n.659+43C>A) c.824+43C>A (n.824+43C>A) | gnomAD v4 |
| 5 | g.127396821C= | CA1580839554 | MEGF10 | c.659+43C= (n.659+43C=) c.824+43C= (n.824+43C=) | |
| 5 | g.127396821C>T | CA803558559 | MEGF10 | c.659+43C>T (n.659+43C>T) c.824+43C>T (n.824+43C>T) | dbSNP gnomAD v4 |
| 5 | g.127396822_127396823delinsCT | CA1580839556 | MEGF10 | c.659+44_659+45delinsCT (n.659+44_659+45delinsCT) c.824+44_824+45delinsCT (n.824+44_824+45delinsCT) | |
| 5 | g.127396823del | CA1081319252 | MEGF10 | c.659+45del (n.659+45del) c.824+45del (n.824+45del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127396823T>C | CA2675087259 | MEGF10 | c.659+45T>C (n.659+45T>C) c.824+45T>C (n.824+45T>C) | gnomAD v4 |
| 5 | g.127396824C= | CA1580839558 | MEGF10 | c.659+46C= (n.659+46C=) c.824+46C= (n.824+46C=) | |
| 5 | g.127396824C>T | CA3391365 | MEGF10 | c.659+46C>T (n.659+46C>T) c.824+46C>T (n.824+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396826C= | CA1580839560 | MEGF10 | c.659+48C= (n.659+48C=) c.824+48C= (n.824+48C=) | |
| 5 | g.127396826C>T | CA1580839561 | MEGF10 | c.659+48C>T (n.659+48C>T) c.824+48C>T (n.824+48C>T) | dbSNP gnomAD v4 |
| 5 | g.127396827C= | CA1580839563 | MEGF10 | c.659+49C= (n.659+49C=) c.824+49C= (n.824+49C=) | |
| 5 | g.127396827C>T | CA3391366 | MEGF10 | c.659+49C>T (n.659+49C>T) c.824+49C>T (n.824+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396830_127396833del | CA2768314174 | MEGF10 | c.659+52_659+55del (n.659+52_659+55del) c.824+52_824+55del (n.824+52_824+55del) | |
| 5 | g.127396828A= | CA1580839569 | MEGF10 | c.659+50A= (n.659+50A=) c.824+50A= (n.824+50A=) | |
| 5 | g.127396828A>G | CA3391367 | MEGF10 | c.659+50A>G (n.659+50A>G) c.824+50A>G (n.824+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127396828A>T | CA2768314175 | MEGF10 | c.659+50A>T (n.659+50A>T) c.824+50A>T (n.824+50A>T) | |
| 5 | g.127396829T>C | CA2675087260 | MEGF10 | c.659+51T>C (n.659+51T>C) c.824+51T>C (n.824+51T>C) | gnomAD v4 |
| 5 | g.127396831C>A | CA2675087261 | MEGF10 | c.659+53C>A (n.659+53C>A) c.824+53C>A (n.824+53C>A) | gnomAD v4 |
| 5 | g.127396832A= | CA1580839575 | MEGF10 | c.659+54A= (n.659+54A=) c.824+54A= (n.824+54A=) | |
| 5 | g.127396832A>C | CA1580839573 | MEGF10 | c.659+54A>C (n.659+54A>C) c.824+54A>C (n.824+54A>C) | dbSNP |
| 5 | g.127396833T>C | CA2675087262 | MEGF10 | c.659+55T>C (n.659+55T>C) c.824+55T>C (n.824+55T>C) | gnomAD v4 |
| 5 | g.127396842_127396844del | CA2578393850 | MEGF10 | c.659+64_659+66del (n.659+64_659+66del) c.824+64_824+66del (n.824+64_824+66del) | gnomAD v4 |
| 5 | g.127396839_127396844del | CA2578393851 | MEGF10 | c.659+61_659+66del (n.659+61_659+66del) c.824+61_824+66del (n.824+61_824+66del) | |
| 5 | g.127396834G>A | CA126930483 | MEGF10 | c.659+56G>A (n.659+56G>A) c.824+56G>A (n.824+56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396834G>C | CA2675087263 | MEGF10 | c.659+56G>C (n.659+56G>C) c.824+56G>C (n.824+56G>C) | gnomAD v4 |
| 5 | g.127396834G= | CA1580839578 | MEGF10 | c.659+56G= (n.659+56G=) c.824+56G= (n.824+56G=) | |
| 5 | g.127396835C>A | CA2675087264 | MEGF10 | c.659+57C>A (n.659+57C>A) c.824+57C>A (n.824+57C>A) | gnomAD v4 |
| 5 | g.127396835C= | CA1580839582 | MEGF10 | c.659+57C= (n.659+57C=) c.824+57C= (n.824+57C=) | |
| 5 | g.127396835C>T | CA126930484 | MEGF10 | c.659+57C>T (n.659+57C>T) c.824+57C>T (n.824+57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127396837G>A | CA2675087265 | MEGF10 | c.659+59G>A (n.659+59G>A) c.824+59G>A (n.824+59G>A) | gnomAD v4 |
| 5 | g.127396838C>A | CA2675087266 | MEGF10 | c.659+60C>A (n.659+60C>A) c.824+60C>A (n.824+60C>A) | gnomAD v4 |
| 5 | g.127396839T>C | CA2578393852 | MEGF10 | c.659+61T>C (n.659+61T>C) c.824+61T>C (n.824+61T>C) | |
| 5 | g.127396840G>A | CA2533868497 | MEGF10 | c.659+62G>A (n.659+62G>A) c.824+62G>A (n.824+62G>A) | gnomAD v4 |
| 5 | g.127396841C>T | CA2675087267 | MEGF10 | c.659+63C>T (n.659+63C>T) c.824+63C>T (n.824+63C>T) | gnomAD v4 |
| 5 | g.127396842T>C | CA1580839585 | MEGF10 | c.659+64T>C (n.659+64T>C) c.824+64T>C (n.824+64T>C) | dbSNP |
| 5 | g.127396842T= | CA1580839584 | MEGF10 | c.659+64T= (n.659+64T=) c.824+64T= (n.824+64T=) | |
| 5 | g.127396843G>A | CA2675087268 | MEGF10 | c.659+65G>A (n.659+65G>A) c.824+65G>A (n.824+65G>A) | gnomAD v4 |
| 5 | g.127396843G>T | CA2675087269 | MEGF10 | c.659+65G>T (n.659+65G>T) c.824+65G>T (n.824+65G>T) | gnomAD v4 |
| 5 | g.127396844C>A | CA2675087270 | MEGF10 | c.659+66C>A (n.659+66C>A) c.824+66C>A (n.824+66C>A) | gnomAD v4 |
| 5 | g.127396844_127396847delinsCCAT | CA1580839587 | MEGF10 | c.659+66_659+69delinsCCAT (n.659+66_659+69delinsCCAT) c.824+66_824+69delinsCCAT (n.824+66_824+69delinsCCAT) |