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 |
|---|---|---|---|---|---|
| 3 | g.138945277_138946050delinsGCGGCTGCAGCAGCTGCGGCTGCAGCCGCGGGCCCCGGTAGCCCTGGCGCGGCCGCTGTGGTCAAGGGGCTGGCGGGCCCGGCCGCCTCGTACGGGCCGTACACACGCGTGCAGAGCATGGCGCTGCCCCCCGGCGTAGTGAACTCGTACAATGGCCTGGGAGGCCCGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCACCCGCATCCGCACGCACACCATCTGCACGCGGCCGCCGCACCGCCGCCTGCCCCACCGCACCACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCCGGCGCCCGCGCCCACCAGTGCGCCGGGCCTGCAGTTCGCTTGTGCCCGGCAGCCCGAGCTCGCCATGATGCATTGCTCTTACTGGGACCACGACAGCAAGACCGGCGCGCTGCATTCGCGCCTCGATCTCTGAGAGCCCACCGCATGCCGGTGCAGACGGATGCGAGGATGCAGGGACGCGCGACGCCGGCCCCGGTCGCAGCCGACGACGCCGCCGCCAGCCTGACCTCACACCCTCTGGGCCCGCCTCTGGAGCCAGCGCCCAGGGTCCCTCTGTGCTTTTTCGCTTTCCTAAGCTCCTGTCGCTCCTCTTTGTCCCCTCAGTTTATGTCCTCCTGTGCTCACCTCCCTGACCTCTGTGACCTTGCACTCCCCTGGCCTGAAGCTGCCTCTCTGCGCGCTTTCTACTGGGCTCGTCTCTTTCCGGAGCCCCAGCGTCTCCTGCCCA | CA2580068839 | FOXL2 | c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC (n.[c.673_*315delinsTGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC;Ala225TrpfsTer41]) | ClinVar |
| 3 | g.138945775_138945810del | CA1054107766 | FOXL2 | c.921_956del (p.Ala308_Pro319del) | gnomAD v3 gnomAD v4 |
| 3 | g.138945785_138945820del | CA1054107772 | FOXL2 | c.912_947del (p.Pro305_Ala316del) | gnomAD v3 gnomAD v4 |
| 3 | g.138945790_138945825del | CA436094076 | FOXL2 | c.902_937del (p.Ala301_His312del) | gnomAD v4 |
| 3 | g.138945796_138945815dup | CA2586973010 | FOXL2 | c.915_934dup (p.His312ArgfsTer?) | |
| 3 | g.138945798_138945812dup | CA2667925290 | FOXL2 | c.917_931dup (p.Pro310_His311insProProAlaProPro) | gnomAD v4 |
| 3 | g.138945799_138945810dup | CA2667925305 | FOXL2 | c.915_926dup (p.Pro309_Pro310insProProAlaPro) | gnomAD v4 |
| 3 | g.138945799_138945818dup | CA10654859 | FOXL2 | c.907_926dup (p.His312ArgfsTer?) | ClinVar dbSNP |
| 3 | g.138945801C>A | CA354701958 | FOXL2 | c.922G>T (p.Ala308Ser) | gnomAD v4 |
| 3 | g.138945801C= | CA1405402169 | FOXL2 | c.922G= (p.Ala308=) | |
| 3 | g.138945801C>G | CA354701956 | FOXL2 | c.922G>C (p.Ala308Pro) | |
| 3 | g.138945801C>T | CA354701950 | FOXL2 | c.922G>A (p.Ala308Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.138945802A>C | CA436094105 | FOXL2 | c.921T>G (p.Pro307=) | |
| 3 | g.138945802A>G | CA436094106 | FOXL2 | c.921T>C (p.Pro307=) | gnomAD v4 |
| 3 | g.138945802A>T | CA436094107 | FOXL2 | c.921T>A (p.Pro307=) | gnomAD v4 |
| 3 | g.138945803G>A | CA354701972 | FOXL2 | c.920C>T (p.Pro307Leu) | |
| 3 | g.138945803G>C | CA354701974 | FOXL2 | c.920C>G (p.Pro307Arg) | |
| 3 | g.138945803G= | CA1405402170 | FOXL2 | c.920C= (p.Pro307=) | |
| 3 | g.138945803G>T | CA354701978 | FOXL2 | c.920C>A (p.Pro307His) | gnomAD v4 |
| 3 | g.138945808_138945810dup | CA2577918189 | FOXL2 | c.918_920dup (p.Pro307_Ala308insPro) | |
| 3 | g.138945804G>A | CA354702004 | FOXL2 | c.919C>T (p.Pro307Ser) | |
| 3 | g.138945804G>C | CA354702026 | FOXL2 | c.919C>G (p.Pro307Ala) | dbSNP |
| 3 | g.138945804G= | CA1405402171 | FOXL2 | c.919C= (p.Pro307=) | |
| 3 | g.138945804G>T | CA354702033 | FOXL2 | c.919C>A (p.Pro307Thr) | |
| 3 | g.138945811_138945818dup | CA213131 | FOXL2 | c.912_919dup (p.Pro307HisfsTer?) | ClinVar dbSNP |
| 3 | g.138945805C>A | CA436094111 | FOXL2 | c.918G>T (p.Pro306=) | gnomAD v4 |
| 3 | g.138945805C= | CA1405402172 | FOXL2 | c.918G= (p.Pro306=) | |
| 3 | g.138945805C>G | CA436094112 | FOXL2 | c.918G>C (p.Pro306=) | dbSNP |
| 3 | g.138945805C>T | CA436094113 | FOXL2 | c.918G>A (p.Pro306=) | dbSNP gnomAD v4 |
| 3 | g.138945806G>A | CA354702042 | FOXL2 | c.917C>T (p.Pro306Leu) | gnomAD v4 |
| 3 | g.138945806G>C | CA354702045 | FOXL2 | c.917C>G (p.Pro306Arg) | |
| 3 | g.138945806G>T | CA354702048 | FOXL2 | c.917C>A (p.Pro306Gln) | |
| 3 | g.138945807G>A | CA354702061 | FOXL2 | c.916C>T (p.Pro306Ser) | gnomAD v4 |
| 3 | g.138945807G>C | CA354702069 | FOXL2 | c.916C>G (p.Pro306Ala) | |
| 3 | g.138945807G>T | CA354702057 | FOXL2 | c.916C>A (p.Pro306Thr) | gnomAD v4 |
| 3 | g.138945808C>A | CA436094117 | FOXL2 | c.915G>T (p.Pro305=) | gnomAD v4 |
| 3 | g.138945808C>G | CA436094118 | FOXL2 | c.915G>C (p.Pro305=) | |
| 3 | g.138945808C>T | CA436094119 | FOXL2 | c.915G>A (p.Pro305=) | gnomAD v4 |
| 3 | g.138945809G>A | CA354702074 | FOXL2 | c.914C>T (p.Pro305Leu) | gnomAD v4 |
| 3 | g.138945809G>C | CA354702078 | FOXL2 | c.914C>G (p.Pro305Arg) | |
| 3 | g.138945809G>T | CA354702086 | FOXL2 | c.914C>A (p.Pro305Gln) | |
| 3 | g.138945810G>A | CA354702090 | FOXL2 | c.913C>T (p.Pro305Ser) | gnomAD v4 |
| 3 | g.138945810G>C | CA354702093 | FOXL2 | c.913C>G (p.Pro305Ala) | |
| 3 | g.138945810G>T | CA354702096 | FOXL2 | c.913C>A (p.Pro305Thr) | gnomAD v4 |
| 3 | g.138945811T>A | CA436094122 | FOXL2 | c.912A>T (p.Ala304=) | |
| 3 | g.138945811T>C | CA436094124 | FOXL2 | c.912A>G (p.Ala304=) | |
| 3 | g.138945811T>G | CA436094123 | FOXL2 | c.912A>C (p.Ala304=) | gnomAD v4 |
| 3 | g.138945811T= | CA1405402173 | FOXL2 | c.912A= (p.Ala304=) | |
| 3 | g.138945812G>A | CA354702100 | FOXL2 | c.911C>T (p.Ala304Val) | |
| 3 | g.138945812G>C | CA354702104 | FOXL2 | c.911C>G (p.Ala304Gly) |