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 |
|---|---|---|---|---|---|
| 7 | g.74051741T>C | CA1717343485 | ELN | c.800-9T>C (n.800-9T>C) c.692-9T>C (n.692-9T>C) c.815-9T>C (n.815-9T>C) c.449-9T>C (n.449-9T>C) c.770-9T>C (n.770-9T>C) c.758-9T>C (n.758-9T>C) c.785-9T>C (n.785-9T>C) c.383-9T>C (n.383-9T>C) c.734-9T>C (n.734-9T>C) n.266-9T>C c.668-9T>C (n.668-9T>C) c.764-9T>C (n.764-9T>C) c.779-9T>C (n.779-9T>C) c.773-9T>C (n.773-9T>C) c.749-9T>C (n.749-9T>C) c.728-9T>C (n.728-9T>C) | dbSNP |
| 7 | g.74051741T= | CA1717343484 | ELN | c.800-9T= (n.800-9T=) c.692-9T= (n.692-9T=) c.815-9T= (n.815-9T=) c.449-9T= (n.449-9T=) c.770-9T= (n.770-9T=) c.758-9T= (n.758-9T=) c.785-9T= (n.785-9T=) c.383-9T= (n.383-9T=) c.734-9T= (n.734-9T=) n.266-9T= c.668-9T= (n.668-9T=) c.764-9T= (n.764-9T=) c.779-9T= (n.779-9T=) c.773-9T= (n.773-9T=) c.749-9T= (n.749-9T=) c.728-9T= (n.728-9T=) | |
| 7 | g.74051744C>T | CA2683268446 | ELN | c.800-6C>T (n.800-6C>T) c.692-6C>T (n.692-6C>T) c.815-6C>T (n.815-6C>T) c.449-6C>T (n.449-6C>T) c.770-6C>T (n.770-6C>T) c.758-6C>T (n.758-6C>T) c.785-6C>T (n.785-6C>T) c.383-6C>T (n.383-6C>T) c.734-6C>T (n.734-6C>T) n.266-6C>T c.668-6C>T (n.668-6C>T) c.764-6C>T (n.764-6C>T) c.779-6C>T (n.779-6C>T) c.773-6C>T (n.773-6C>T) c.749-6C>T (n.749-6C>T) c.728-6C>T (n.728-6C>T) | gnomAD v4 |
| 7 | g.74051745A>T | CA2683268447 | ELN | c.800-5A>T (n.800-5A>T) c.692-5A>T (n.692-5A>T) c.815-5A>T (n.815-5A>T) c.449-5A>T (n.449-5A>T) c.770-5A>T (n.770-5A>T) c.758-5A>T (n.758-5A>T) c.785-5A>T (n.785-5A>T) c.383-5A>T (n.383-5A>T) c.734-5A>T (n.734-5A>T) n.266-5A>T c.668-5A>T (n.668-5A>T) c.764-5A>T (n.764-5A>T) c.779-5A>T (n.779-5A>T) c.773-5A>T (n.773-5A>T) c.749-5A>T (n.749-5A>T) c.728-5A>T (n.728-5A>T) | gnomAD v4 |
| 7 | g.74051747C= | CA1717343486 | ELN | c.800-3C= (n.800-3C=) c.692-3C= (n.692-3C=) c.815-3C= (n.815-3C=) c.449-3C= (n.449-3C=) c.770-3C= (n.770-3C=) c.758-3C= (n.758-3C=) c.785-3C= (n.785-3C=) c.383-3C= (n.383-3C=) c.734-3C= (n.734-3C=) n.266-3C= c.668-3C= (n.668-3C=) c.764-3C= (n.764-3C=) c.779-3C= (n.779-3C=) c.773-3C= (n.773-3C=) c.749-3C= (n.749-3C=) c.728-3C= (n.728-3C=) | |
| 7 | g.74051747C>G | CA281109 | ELN | c.800-3C>G (n.800-3C>G) c.692-3C>G (n.692-3C>G) c.815-3C>G (n.815-3C>G) c.449-3C>G (n.449-3C>G) c.770-3C>G (n.770-3C>G) c.758-3C>G (n.758-3C>G) c.785-3C>G (n.785-3C>G) c.383-3C>G (n.383-3C>G) c.734-3C>G (n.734-3C>G) n.266-3C>G c.668-3C>G (n.668-3C>G) c.764-3C>G (n.764-3C>G) c.779-3C>G (n.779-3C>G) c.773-3C>G (n.773-3C>G) c.749-3C>G (n.749-3C>G) c.728-3C>G (n.728-3C>G) | ClinVar dbSNP |
| 7 | g.74051747C>T | CA575345591 | ELN | c.800-3C>T (n.800-3C>T) c.692-3C>T (n.692-3C>T) c.815-3C>T (n.815-3C>T) c.449-3C>T (n.449-3C>T) c.770-3C>T (n.770-3C>T) c.758-3C>T (n.758-3C>T) c.785-3C>T (n.785-3C>T) c.383-3C>T (n.383-3C>T) c.734-3C>T (n.734-3C>T) n.266-3C>T c.668-3C>T (n.668-3C>T) c.764-3C>T (n.764-3C>T) c.779-3C>T (n.779-3C>T) c.773-3C>T (n.773-3C>T) c.749-3C>T (n.749-3C>T) c.728-3C>T (n.728-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.74051748A= | CA1717343487 | ELN | c.800-2A= (n.800-2A=) c.692-2A= (n.692-2A=) c.815-2A= (n.815-2A=) c.449-2A= (n.449-2A=) c.770-2A= (n.770-2A=) c.758-2A= (n.758-2A=) c.785-2A= (n.785-2A=) c.383-2A= (n.383-2A=) c.734-2A= (n.734-2A=) n.266-2A= c.668-2A= (n.668-2A=) c.764-2A= (n.764-2A=) c.779-2A= (n.779-2A=) c.773-2A= (n.773-2A=) c.749-2A= (n.749-2A=) c.728-2A= (n.728-2A=) | |
| 7 | g.74051748A>C | CA367870912 | ELN | c.800-2A>C (n.800-2A>C) c.692-2A>C (n.692-2A>C) c.815-2A>C (n.815-2A>C) c.449-2A>C (n.449-2A>C) c.770-2A>C (n.770-2A>C) c.758-2A>C (n.758-2A>C) c.785-2A>C (n.785-2A>C) c.383-2A>C (n.383-2A>C) c.734-2A>C (n.734-2A>C) n.266-2A>C c.668-2A>C (n.668-2A>C) c.764-2A>C (n.764-2A>C) c.779-2A>C (n.779-2A>C) c.773-2A>C (n.773-2A>C) c.749-2A>C (n.749-2A>C) c.728-2A>C (n.728-2A>C) | |
| 7 | g.74051748A>G | CA281471 | ELN | c.800-2A>G (n.800-2A>G) c.692-2A>G (n.692-2A>G) c.815-2A>G (n.815-2A>G) c.449-2A>G (n.449-2A>G) c.770-2A>G (n.770-2A>G) c.758-2A>G (n.758-2A>G) c.785-2A>G (n.785-2A>G) c.383-2A>G (n.383-2A>G) c.734-2A>G (n.734-2A>G) n.266-2A>G c.668-2A>G (n.668-2A>G) c.764-2A>G (n.764-2A>G) c.779-2A>G (n.779-2A>G) c.773-2A>G (n.773-2A>G) c.749-2A>G (n.749-2A>G) c.728-2A>G (n.728-2A>G) | ClinVar dbSNP |
| 7 | g.74051748A>T | CA367870914 | ELN | c.800-2A>T (n.800-2A>T) c.692-2A>T (n.692-2A>T) c.815-2A>T (n.815-2A>T) c.449-2A>T (n.449-2A>T) c.770-2A>T (n.770-2A>T) c.758-2A>T (n.758-2A>T) c.785-2A>T (n.785-2A>T) c.383-2A>T (n.383-2A>T) c.734-2A>T (n.734-2A>T) n.266-2A>T c.668-2A>T (n.668-2A>T) c.764-2A>T (n.764-2A>T) c.779-2A>T (n.779-2A>T) c.773-2A>T (n.773-2A>T) c.749-2A>T (n.749-2A>T) c.728-2A>T (n.728-2A>T) | |
| 7 | g.74051749G>A | CA367870916 | ELN | c.800-1G>A (n.800-1G>A) c.692-1G>A (n.692-1G>A) c.815-1G>A (n.815-1G>A) c.449-1G>A (n.449-1G>A) c.770-1G>A (n.770-1G>A) c.758-1G>A (n.758-1G>A) c.785-1G>A (n.785-1G>A) c.383-1G>A (n.383-1G>A) c.734-1G>A (n.734-1G>A) n.266-1G>A c.668-1G>A (n.668-1G>A) c.764-1G>A (n.764-1G>A) c.779-1G>A (n.779-1G>A) c.773-1G>A (n.773-1G>A) c.749-1G>A (n.749-1G>A) c.728-1G>A (n.728-1G>A) | ClinVar dbSNP |
| 7 | g.74051749G>C | CA367870917 | ELN | c.800-1G>C (n.800-1G>C) c.692-1G>C (n.692-1G>C) c.815-1G>C (n.815-1G>C) c.449-1G>C (n.449-1G>C) c.770-1G>C (n.770-1G>C) c.758-1G>C (n.758-1G>C) c.785-1G>C (n.785-1G>C) c.383-1G>C (n.383-1G>C) c.734-1G>C (n.734-1G>C) n.266-1G>C c.668-1G>C (n.668-1G>C) c.764-1G>C (n.764-1G>C) c.779-1G>C (n.779-1G>C) c.773-1G>C (n.773-1G>C) c.749-1G>C (n.749-1G>C) c.728-1G>C (n.728-1G>C) | |
| 7 | g.74051749G>T | CA367870919 | ELN | c.800-1G>T (n.800-1G>T) c.692-1G>T (n.692-1G>T) c.815-1G>T (n.815-1G>T) c.449-1G>T (n.449-1G>T) c.770-1G>T (n.770-1G>T) c.758-1G>T (n.758-1G>T) c.785-1G>T (n.785-1G>T) c.383-1G>T (n.383-1G>T) c.734-1G>T (n.734-1G>T) n.266-1G>T c.668-1G>T (n.668-1G>T) c.764-1G>T (n.764-1G>T) c.779-1G>T (n.779-1G>T) c.773-1G>T (n.773-1G>T) c.749-1G>T (n.749-1G>T) c.728-1G>T (n.728-1G>T) | |
| 7 | g.74051750G>A | CA4292710 | ELN | c.800G>A (p.Gly267Asp) c.692G>A (p.Gly231Asp) c.815G>A (p.Gly272Asp) c.449G>A (p.Gly150Asp) c.770G>A (p.Gly257Asp) c.758G>A (p.Gly253Asp) c.785G>A (p.Gly262Asp) c.383G>A (p.Gly128Asp) c.734G>A (p.Gly245Asp) n.266G>A c.668G>A (p.Gly223Asp) c.764G>A (p.Gly255Asp) c.779G>A (p.Gly260Asp) c.773G>A (p.Gly258Asp) c.749G>A (p.Gly250Asp) c.728G>A (p.Gly243Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.74051750G>C | CA367870923 | ELN | c.800G>C (p.Gly267Ala) c.692G>C (p.Gly231Ala) c.815G>C (p.Gly272Ala) c.449G>C (p.Gly150Ala) c.770G>C (p.Gly257Ala) c.758G>C (p.Gly253Ala) c.785G>C (p.Gly262Ala) c.383G>C (p.Gly128Ala) c.734G>C (p.Gly245Ala) n.266G>C c.668G>C (p.Gly223Ala) c.764G>C (p.Gly255Ala) c.779G>C (p.Gly260Ala) c.773G>C (p.Gly258Ala) c.749G>C (p.Gly250Ala) c.728G>C (p.Gly243Ala) | |
| 7 | g.74051750G= | CA1717343488 | ELN | c.800G= (p.Gly267=) c.692G= (p.Gly231=) c.815G= (p.Gly272=) c.449G= (p.Gly150=) c.770G= (p.Gly257=) c.758G= (p.Gly253=) c.785G= (p.Gly262=) c.383G= (p.Gly128=) c.734G= (p.Gly245=) n.266G= c.668G= (p.Gly223=) c.764G= (p.Gly255=) c.779G= (p.Gly260=) c.773G= (p.Gly258=) c.749G= (p.Gly250=) c.728G= (p.Gly243=) | |
| 7 | g.74051750G>T | CA367870921 | ELN | c.800G>T (p.Gly267Val) c.692G>T (p.Gly231Val) c.815G>T (p.Gly272Val) c.449G>T (p.Gly150Val) c.770G>T (p.Gly257Val) c.758G>T (p.Gly253Val) c.785G>T (p.Gly262Val) c.383G>T (p.Gly128Val) c.734G>T (p.Gly245Val) n.266G>T c.668G>T (p.Gly223Val) c.764G>T (p.Gly255Val) c.779G>T (p.Gly260Val) c.773G>T (p.Gly258Val) c.749G>T (p.Gly250Val) c.728G>T (p.Gly243Val) | |
| 7 | g.74051751T>A | CA455884768 | ELN | c.801T>A (p.Gly267=) c.693T>A (p.Gly231=) c.816T>A (p.Gly272=) c.450T>A (p.Gly150=) c.771T>A (p.Gly257=) c.759T>A (p.Gly253=) c.786T>A (p.Gly262=) c.384T>A (p.Gly128=) c.735T>A (p.Gly245=) n.267T>A c.669T>A (p.Gly223=) c.765T>A (p.Gly255=) c.780T>A (p.Gly260=) c.774T>A (p.Gly258=) c.750T>A (p.Gly250=) c.729T>A (p.Gly243=) | COSMIC COSMIC |
| 7 | g.74051751T>C | CA455884769 | ELN | c.801T>C (p.Gly267=) c.693T>C (p.Gly231=) c.816T>C (p.Gly272=) c.450T>C (p.Gly150=) c.771T>C (p.Gly257=) c.759T>C (p.Gly253=) c.786T>C (p.Gly262=) c.384T>C (p.Gly128=) c.735T>C (p.Gly245=) n.267T>C c.669T>C (p.Gly223=) c.765T>C (p.Gly255=) c.780T>C (p.Gly260=) c.774T>C (p.Gly258=) c.750T>C (p.Gly250=) c.729T>C (p.Gly243=) | |
| 7 | g.74051751T>G | CA455884770 | ELN | c.801T>G (p.Gly267=) c.693T>G (p.Gly231=) c.816T>G (p.Gly272=) c.450T>G (p.Gly150=) c.771T>G (p.Gly257=) c.759T>G (p.Gly253=) c.786T>G (p.Gly262=) c.384T>G (p.Gly128=) c.735T>G (p.Gly245=) n.267T>G c.669T>G (p.Gly223=) c.765T>G (p.Gly255=) c.780T>G (p.Gly260=) c.774T>G (p.Gly258=) c.750T>G (p.Gly250=) c.729T>G (p.Gly243=) | |
| 7 | g.74051752G>A | CA4292711 | ELN | c.802G>A (p.Ala268Thr) c.694G>A (p.Ala232Thr) c.817G>A (p.Ala273Thr) c.451G>A (p.Ala151Thr) c.772G>A (p.Ala258Thr) c.760G>A (p.Ala254Thr) c.787G>A (p.Ala263Thr) c.385G>A (p.Ala129Thr) c.736G>A (p.Ala246Thr) n.268G>A c.670G>A (p.Ala224Thr) c.766G>A (p.Ala256Thr) c.781G>A (p.Ala261Thr) c.775G>A (p.Ala259Thr) c.751G>A (p.Ala251Thr) c.730G>A (p.Ala244Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74051752G>C | CA367870927 | ELN | c.802G>C (p.Ala268Pro) c.694G>C (p.Ala232Pro) c.817G>C (p.Ala273Pro) c.451G>C (p.Ala151Pro) c.772G>C (p.Ala258Pro) c.760G>C (p.Ala254Pro) c.787G>C (p.Ala263Pro) c.385G>C (p.Ala129Pro) c.736G>C (p.Ala246Pro) n.268G>C c.670G>C (p.Ala224Pro) c.766G>C (p.Ala256Pro) c.781G>C (p.Ala261Pro) c.775G>C (p.Ala259Pro) c.751G>C (p.Ala251Pro) c.730G>C (p.Ala244Pro) | |
| 7 | g.74051752G= | CA1717343489 | ELN | c.802G= (p.Ala268=) c.694G= (p.Ala232=) c.817G= (p.Ala273=) c.451G= (p.Ala151=) c.772G= (p.Ala258=) c.760G= (p.Ala254=) c.787G= (p.Ala263=) c.385G= (p.Ala129=) c.736G= (p.Ala246=) n.268G= c.670G= (p.Ala224=) c.766G= (p.Ala256=) c.781G= (p.Ala261=) c.775G= (p.Ala259=) c.751G= (p.Ala251=) c.730G= (p.Ala244=) | |
| 7 | g.74051752G>T | CA367870925 | ELN | c.802G>T (p.Ala268Ser) c.694G>T (p.Ala232Ser) c.817G>T (p.Ala273Ser) c.451G>T (p.Ala151Ser) c.772G>T (p.Ala258Ser) c.760G>T (p.Ala254Ser) c.787G>T (p.Ala263Ser) c.385G>T (p.Ala129Ser) c.736G>T (p.Ala246Ser) n.268G>T c.670G>T (p.Ala224Ser) c.766G>T (p.Ala256Ser) c.781G>T (p.Ala261Ser) c.775G>T (p.Ala259Ser) c.751G>T (p.Ala251Ser) c.730G>T (p.Ala244Ser) | gnomAD v4 |
| 7 | g.74051753C>A | CA367870928 | ELN | c.803C>A (p.Ala268Asp) c.695C>A (p.Ala232Asp) c.818C>A (p.Ala273Asp) c.452C>A (p.Ala151Asp) c.773C>A (p.Ala258Asp) c.761C>A (p.Ala254Asp) c.788C>A (p.Ala263Asp) c.386C>A (p.Ala129Asp) c.737C>A (p.Ala246Asp) n.269C>A c.671C>A (p.Ala224Asp) c.767C>A (p.Ala256Asp) c.782C>A (p.Ala261Asp) c.776C>A (p.Ala259Asp) c.752C>A (p.Ala251Asp) c.731C>A (p.Ala244Asp) | |
| 7 | g.74051753C>G | CA367870930 | ELN | c.803C>G (p.Ala268Gly) c.695C>G (p.Ala232Gly) c.818C>G (p.Ala273Gly) c.452C>G (p.Ala151Gly) c.773C>G (p.Ala258Gly) c.761C>G (p.Ala254Gly) c.788C>G (p.Ala263Gly) c.386C>G (p.Ala129Gly) c.737C>G (p.Ala246Gly) n.269C>G c.671C>G (p.Ala224Gly) c.767C>G (p.Ala256Gly) c.782C>G (p.Ala261Gly) c.776C>G (p.Ala259Gly) c.752C>G (p.Ala251Gly) c.731C>G (p.Ala244Gly) | |
| 7 | g.74051753C>T | CA367870931 | ELN | c.803C>T (p.Ala268Val) c.695C>T (p.Ala232Val) c.818C>T (p.Ala273Val) c.452C>T (p.Ala151Val) c.773C>T (p.Ala258Val) c.761C>T (p.Ala254Val) c.788C>T (p.Ala263Val) c.386C>T (p.Ala129Val) c.737C>T (p.Ala246Val) n.269C>T c.671C>T (p.Ala224Val) c.767C>T (p.Ala256Val) c.782C>T (p.Ala261Val) c.776C>T (p.Ala259Val) c.752C>T (p.Ala251Val) c.731C>T (p.Ala244Val) | |
| 7 | g.74051754T>A | CA455884773 | ELN | c.804T>A (p.Ala268=) c.696T>A (p.Ala232=) c.819T>A (p.Ala273=) c.453T>A (p.Ala151=) c.774T>A (p.Ala258=) c.762T>A (p.Ala254=) c.789T>A (p.Ala263=) c.387T>A (p.Ala129=) c.738T>A (p.Ala246=) n.270T>A c.672T>A (p.Ala224=) c.768T>A (p.Ala256=) c.783T>A (p.Ala261=) c.777T>A (p.Ala259=) c.753T>A (p.Ala251=) c.732T>A (p.Ala244=) | |
| 7 | g.74051754T>C | CA4292712 | ELN | c.804T>C (p.Ala268=) c.696T>C (p.Ala232=) c.819T>C (p.Ala273=) c.453T>C (p.Ala151=) c.774T>C (p.Ala258=) c.762T>C (p.Ala254=) c.789T>C (p.Ala263=) c.387T>C (p.Ala129=) c.738T>C (p.Ala246=) n.270T>C c.672T>C (p.Ala224=) c.768T>C (p.Ala256=) c.783T>C (p.Ala261=) c.777T>C (p.Ala259=) c.753T>C (p.Ala251=) c.732T>C (p.Ala244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74051754T>G | CA455884774 | ELN | c.804T>G (p.Ala268=) c.696T>G (p.Ala232=) c.819T>G (p.Ala273=) c.453T>G (p.Ala151=) c.774T>G (p.Ala258=) c.762T>G (p.Ala254=) c.789T>G (p.Ala263=) c.387T>G (p.Ala129=) c.738T>G (p.Ala246=) n.270T>G c.672T>G (p.Ala224=) c.768T>G (p.Ala256=) c.783T>G (p.Ala261=) c.777T>G (p.Ala259=) c.753T>G (p.Ala251=) c.732T>G (p.Ala244=) | |
| 7 | g.74051754T= | CA1717343490 | ELN | c.804T= (p.Ala268=) c.696T= (p.Ala232=) c.819T= (p.Ala273=) c.453T= (p.Ala151=) c.774T= (p.Ala258=) c.762T= (p.Ala254=) c.789T= (p.Ala263=) c.387T= (p.Ala129=) c.738T= (p.Ala246=) n.270T= c.672T= (p.Ala224=) c.768T= (p.Ala256=) c.783T= (p.Ala261=) c.777T= (p.Ala259=) c.753T= (p.Ala251=) c.732T= (p.Ala244=) | |
| 7 | g.74051754_74051763delinsTGGAGCAGCC | CA1717343491 | ELN | c.804_813delinsTGGAGCAGCC (p.Ala268=) c.696_705delinsTGGAGCAGCC (p.Ala232=) c.819_828delinsTGGAGCAGCC (p.Ala273=) c.453_462delinsTGGAGCAGCC (p.Ala151=) c.774_783delinsTGGAGCAGCC (p.Ala258=) c.762_771delinsTGGAGCAGCC (p.Ala254=) c.789_798delinsTGGAGCAGCC (p.Ala263=) c.387_396delinsTGGAGCAGCC (p.Ala129=) c.738_747delinsTGGAGCAGCC (p.Ala246=) n.270_279delinsTGGAGCAGCC c.672_681delinsTGGAGCAGCC (p.Ala224=) c.768_777delinsTGGAGCAGCC (p.Ala256=) c.783_792delinsTGGAGCAGCC (p.Ala261=) c.777_786delinsTGGAGCAGCC (p.Ala259=) c.753_762delinsTGGAGCAGCC (p.Ala251=) c.732_741delinsTGGAGCAGCC (p.Ala244=) | |
| 7 | g.74051755G>A | CA4292713 | ELN | c.805G>A (p.Gly269Arg) c.697G>A (p.Gly233Arg) c.820G>A (p.Gly274Arg) c.454G>A (p.Gly152Arg) c.775G>A (p.Gly259Arg) c.763G>A (p.Gly255Arg) c.790G>A (p.Gly264Arg) c.388G>A (p.Gly130Arg) c.739G>A (p.Gly247Arg) n.271G>A c.673G>A (p.Gly225Arg) c.769G>A (p.Gly257Arg) c.784G>A (p.Gly262Arg) c.778G>A (p.Gly260Arg) c.754G>A (p.Gly252Arg) c.733G>A (p.Gly245Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74051755G>C | CA367870935 | ELN | c.805G>C (p.Gly269Arg) c.697G>C (p.Gly233Arg) c.820G>C (p.Gly274Arg) c.454G>C (p.Gly152Arg) c.775G>C (p.Gly259Arg) c.763G>C (p.Gly255Arg) c.790G>C (p.Gly264Arg) c.388G>C (p.Gly130Arg) c.739G>C (p.Gly247Arg) n.271G>C c.673G>C (p.Gly225Arg) c.769G>C (p.Gly257Arg) c.784G>C (p.Gly262Arg) c.778G>C (p.Gly260Arg) c.754G>C (p.Gly252Arg) c.733G>C (p.Gly245Arg) | |
| 7 | g.74051755G= | CA1717343493 | ELN | c.805G= (p.Gly269=) c.697G= (p.Gly233=) c.820G= (p.Gly274=) c.454G= (p.Gly152=) c.775G= (p.Gly259=) c.763G= (p.Gly255=) c.790G= (p.Gly264=) c.388G= (p.Gly130=) c.739G= (p.Gly247=) n.271G= c.673G= (p.Gly225=) c.769G= (p.Gly257=) c.784G= (p.Gly262=) c.778G= (p.Gly260=) c.754G= (p.Gly252=) c.733G= (p.Gly245=) | |
| 7 | g.74051755G>T | CA367870936 | ELN | c.805G>T (p.Gly269Ter) c.697G>T (p.Gly233Ter) c.820G>T (p.Gly274Ter) c.454G>T (p.Gly152Ter) c.775G>T (p.Gly259Ter) c.763G>T (p.Gly255Ter) c.790G>T (p.Gly264Ter) c.388G>T (p.Gly130Ter) c.739G>T (p.Gly247Ter) n.271G>T c.673G>T (p.Gly225Ter) c.769G>T (p.Gly257Ter) c.784G>T (p.Gly262Ter) c.778G>T (p.Gly260Ter) c.754G>T (p.Gly252Ter) c.733G>T (p.Gly245Ter) | |
| 7 | g.74051759_74051767del | CA1717343492 | ELN | c.809_817del (p.Ala270_Gly272del) c.701_709del (p.Ala234_Gly236del) c.824_832del (p.Ala275_Gly277del) c.458_466del (p.Ala153_Gly155del) c.779_787del (p.Ala260_Gly262del) c.767_775del (p.Ala256_Gly258del) c.794_802del (p.Ala265_Gly267del) c.392_400del (p.Ala131_Gly133del) c.743_751del (p.Ala248_Gly250del) n.275_283del c.677_685del (p.Ala226_Gly228del) c.773_781del (p.Ala258_Gly260del) c.788_796del (p.Ala263_Gly265del) c.782_790del (p.Ala261_Gly263del) c.758_766del (p.Ala253_Gly255del) c.737_745del (p.Ala246_Gly248del) | ClinVar dbSNP |
| 7 | g.74051756G>A | CA367870937 | ELN | c.806G>A (p.Gly269Glu) c.698G>A (p.Gly233Glu) c.821G>A (p.Gly274Glu) c.455G>A (p.Gly152Glu) c.776G>A (p.Gly259Glu) c.764G>A (p.Gly255Glu) c.791G>A (p.Gly264Glu) c.389G>A (p.Gly130Glu) c.740G>A (p.Gly247Glu) n.272G>A c.674G>A (p.Gly225Glu) c.770G>A (p.Gly257Glu) c.785G>A (p.Gly262Glu) c.779G>A (p.Gly260Glu) c.755G>A (p.Gly252Glu) c.734G>A (p.Gly245Glu) | |
| 7 | g.74051756G>C | CA367870938 | ELN | c.806G>C (p.Gly269Ala) c.698G>C (p.Gly233Ala) c.821G>C (p.Gly274Ala) c.455G>C (p.Gly152Ala) c.776G>C (p.Gly259Ala) c.764G>C (p.Gly255Ala) c.791G>C (p.Gly264Ala) c.389G>C (p.Gly130Ala) c.740G>C (p.Gly247Ala) n.272G>C c.674G>C (p.Gly225Ala) c.770G>C (p.Gly257Ala) c.785G>C (p.Gly262Ala) c.779G>C (p.Gly260Ala) c.755G>C (p.Gly252Ala) c.734G>C (p.Gly245Ala) | |
| 7 | g.74051756G>T | CA367870939 | ELN | c.806G>T (p.Gly269Val) c.698G>T (p.Gly233Val) c.821G>T (p.Gly274Val) c.455G>T (p.Gly152Val) c.776G>T (p.Gly259Val) c.764G>T (p.Gly255Val) c.791G>T (p.Gly264Val) c.389G>T (p.Gly130Val) c.740G>T (p.Gly247Val) n.272G>T c.674G>T (p.Gly225Val) c.770G>T (p.Gly257Val) c.785G>T (p.Gly262Val) c.779G>T (p.Gly260Val) c.755G>T (p.Gly252Val) c.734G>T (p.Gly245Val) | |
| 7 | g.74051757A>C | CA455884777 | ELN | c.807A>C (p.Gly269=) c.699A>C (p.Gly233=) c.822A>C (p.Gly274=) c.456A>C (p.Gly152=) c.777A>C (p.Gly259=) c.765A>C (p.Gly255=) c.792A>C (p.Gly264=) c.390A>C (p.Gly130=) c.741A>C (p.Gly247=) n.273A>C c.675A>C (p.Gly225=) c.771A>C (p.Gly257=) c.786A>C (p.Gly262=) c.780A>C (p.Gly260=) c.756A>C (p.Gly252=) c.735A>C (p.Gly245=) | |
| 7 | g.74051757A>G | CA455884775 | ELN | c.807A>G (p.Gly269=) c.699A>G (p.Gly233=) c.822A>G (p.Gly274=) c.456A>G (p.Gly152=) c.777A>G (p.Gly259=) c.765A>G (p.Gly255=) c.792A>G (p.Gly264=) c.390A>G (p.Gly130=) c.741A>G (p.Gly247=) n.273A>G c.675A>G (p.Gly225=) c.771A>G (p.Gly257=) c.786A>G (p.Gly262=) c.780A>G (p.Gly260=) c.756A>G (p.Gly252=) c.735A>G (p.Gly245=) | |
| 7 | g.74051757A>T | CA455884776 | ELN | c.807A>T (p.Gly269=) c.699A>T (p.Gly233=) c.822A>T (p.Gly274=) c.456A>T (p.Gly152=) c.777A>T (p.Gly259=) c.765A>T (p.Gly255=) c.792A>T (p.Gly264=) c.390A>T (p.Gly130=) c.741A>T (p.Gly247=) n.273A>T c.675A>T (p.Gly225=) c.771A>T (p.Gly257=) c.786A>T (p.Gly262=) c.780A>T (p.Gly260=) c.756A>T (p.Gly252=) c.735A>T (p.Gly245=) | |
| 7 | g.74051758G>A | CA367870941 | ELN | c.808G>A (p.Ala270Thr) c.700G>A (p.Ala234Thr) c.823G>A (p.Ala275Thr) c.457G>A (p.Ala153Thr) c.778G>A (p.Ala260Thr) c.766G>A (p.Ala256Thr) c.793G>A (p.Ala265Thr) c.391G>A (p.Ala131Thr) c.742G>A (p.Ala248Thr) n.274G>A c.676G>A (p.Ala226Thr) c.772G>A (p.Ala258Thr) c.787G>A (p.Ala263Thr) c.781G>A (p.Ala261Thr) c.757G>A (p.Ala253Thr) c.736G>A (p.Ala246Thr) | |
| 7 | g.74051758G>C | CA367870942 | ELN | c.808G>C (p.Ala270Pro) c.700G>C (p.Ala234Pro) c.823G>C (p.Ala275Pro) c.457G>C (p.Ala153Pro) c.778G>C (p.Ala260Pro) c.766G>C (p.Ala256Pro) c.793G>C (p.Ala265Pro) c.391G>C (p.Ala131Pro) c.742G>C (p.Ala248Pro) n.274G>C c.676G>C (p.Ala226Pro) c.772G>C (p.Ala258Pro) c.787G>C (p.Ala263Pro) c.781G>C (p.Ala261Pro) c.757G>C (p.Ala253Pro) c.736G>C (p.Ala246Pro) | |
| 7 | g.74051758G= | CA1717343494 | ELN | c.808G= (p.Ala270=) c.700G= (p.Ala234=) c.823G= (p.Ala275=) c.457G= (p.Ala153=) c.778G= (p.Ala260=) c.766G= (p.Ala256=) c.793G= (p.Ala265=) c.391G= (p.Ala131=) c.742G= (p.Ala248=) n.274G= c.676G= (p.Ala226=) c.772G= (p.Ala258=) c.787G= (p.Ala263=) c.781G= (p.Ala261=) c.757G= (p.Ala253=) c.736G= (p.Ala246=) | |
| 7 | g.74051758G>T | CA367870944 | ELN | c.808G>T (p.Ala270Ser) c.700G>T (p.Ala234Ser) c.823G>T (p.Ala275Ser) c.457G>T (p.Ala153Ser) c.778G>T (p.Ala260Ser) c.766G>T (p.Ala256Ser) c.793G>T (p.Ala265Ser) c.391G>T (p.Ala131Ser) c.742G>T (p.Ala248Ser) n.274G>T c.676G>T (p.Ala226Ser) c.772G>T (p.Ala258Ser) c.787G>T (p.Ala263Ser) c.781G>T (p.Ala261Ser) c.757G>T (p.Ala253Ser) c.736G>T (p.Ala246Ser) | dbSNP gnomAD v4 |
| 7 | g.74051759C>A | CA367870945 | ELN | c.809C>A (p.Ala270Glu) c.701C>A (p.Ala234Glu) c.824C>A (p.Ala275Glu) c.458C>A (p.Ala153Glu) c.779C>A (p.Ala260Glu) c.767C>A (p.Ala256Glu) c.794C>A (p.Ala265Glu) c.392C>A (p.Ala131Glu) c.743C>A (p.Ala248Glu) n.275C>A c.677C>A (p.Ala226Glu) c.773C>A (p.Ala258Glu) c.788C>A (p.Ala263Glu) c.782C>A (p.Ala261Glu) c.758C>A (p.Ala253Glu) c.737C>A (p.Ala246Glu) | |
| 7 | g.74051759C>G | CA367870948 | ELN | c.809C>G (p.Ala270Gly) c.701C>G (p.Ala234Gly) c.824C>G (p.Ala275Gly) c.458C>G (p.Ala153Gly) c.779C>G (p.Ala260Gly) c.767C>G (p.Ala256Gly) c.794C>G (p.Ala265Gly) c.392C>G (p.Ala131Gly) c.743C>G (p.Ala248Gly) n.275C>G c.677C>G (p.Ala226Gly) c.773C>G (p.Ala258Gly) c.788C>G (p.Ala263Gly) c.782C>G (p.Ala261Gly) c.758C>G (p.Ala253Gly) c.737C>G (p.Ala246Gly) |