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 |
|---|---|---|---|---|---|
| X | g.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
| X | g.154837605G>A | CA414896554 | F8 | c.7048C>T (p.Leu2350Phe) c.781C>T (p.Leu261Phe) c.643C>T (p.Leu215Phe) c.6943C>T (p.Leu2315Phe) | |
| X | g.154837605G>C | CA414896557 | F8 | c.7048C>G (p.Leu2350Val) c.781C>G (p.Leu261Val) c.643C>G (p.Leu215Val) c.6943C>G (p.Leu2315Val) | |
| X | g.154837605G>T | CA414896560 | F8 | c.7048C>A (p.Leu2350Ile) c.781C>A (p.Leu261Ile) c.643C>A (p.Leu215Ile) c.6943C>A (p.Leu2315Ile) | |
| X | g.154837606G>A | CA519355163 | F8 | c.7047C>T (p.Asp2349=) c.780C>T (p.Asp260=) c.642C>T (p.Asp214=) c.6942C>T (p.Asp2314=) | gnomAD v4 |
| X | g.154837606G>C | CA414896568 | F8 | c.7047C>G (p.Asp2349Glu) c.780C>G (p.Asp260Glu) c.642C>G (p.Asp214Glu) c.6942C>G (p.Asp2314Glu) | |
| X | g.154837606G>T | CA414896570 | F8 | c.7047C>A (p.Asp2349Glu) c.780C>A (p.Asp260Glu) c.642C>A (p.Asp214Glu) c.6942C>A (p.Asp2314Glu) | |
| X | g.154837607T>A | CA414896579 | F8 | c.7046A>T (p.Asp2349Val) c.779A>T (p.Asp260Val) c.641A>T (p.Asp214Val) c.6941A>T (p.Asp2314Val) | |
| X | g.154837607T>C | CA414896573 | F8 | c.7046A>G (p.Asp2349Gly) c.779A>G (p.Asp260Gly) c.641A>G (p.Asp214Gly) c.6941A>G (p.Asp2314Gly) | |
| X | g.154837607T>G | CA414896577 | F8 | c.7046A>C (p.Asp2349Ala) c.779A>C (p.Asp260Ala) c.641A>C (p.Asp214Ala) c.6941A>C (p.Asp2314Ala) | gnomAD v4 |
| X | g.154837608C>A | CA414896585 | F8 | c.7045G>T (p.Asp2349Tyr) c.778G>T (p.Asp260Tyr) c.640G>T (p.Asp214Tyr) c.6940G>T (p.Asp2314Tyr) | |
| X | g.154837608C>G | CA414896588 | F8 | c.7045G>C (p.Asp2349His) c.778G>C (p.Asp260His) c.640G>C (p.Asp214His) c.6940G>C (p.Asp2314His) | |
| X | g.154837608C>T | CA414896592 | F8 | c.7045G>A (p.Asp2349Asn) c.778G>A (p.Asp260Asn) c.640G>A (p.Asp214Asn) c.6940G>A (p.Asp2314Asn) | |
| X | g.154837609C>A | CA414896593 | F8 | c.7044G>T (p.Gln2348His) c.777G>T (p.Gln259His) c.639G>T (p.Gln213His) c.6939G>T (p.Gln2313His) | |
| X | g.154837609C>G | CA414896594 | F8 | c.7044G>C (p.Gln2348His) c.777G>C (p.Gln259His) c.639G>C (p.Gln213His) c.6939G>C (p.Gln2313His) | |
| X | g.154837609C>T | CA519355168 | F8 | c.7044G>A (p.Gln2348=) c.777G>A (p.Gln259=) c.639G>A (p.Gln213=) c.6939G>A (p.Gln2313=) | |
| X | g.154837610T>A | CA414896596 | F8 | c.7043A>T (p.Gln2348Leu) c.776A>T (p.Gln259Leu) c.638A>T (p.Gln213Leu) c.6938A>T (p.Gln2313Leu) | |
| X | g.154837610T>C | CA414896599 | F8 | c.7043A>G (p.Gln2348Arg) c.776A>G (p.Gln259Arg) c.638A>G (p.Gln213Arg) c.6938A>G (p.Gln2313Arg) | |
| X | g.154837610T>G | CA414896602 | F8 | c.7043A>C (p.Gln2348Pro) c.776A>C (p.Gln259Pro) c.638A>C (p.Gln213Pro) c.6938A>C (p.Gln2313Pro) | |
| X | g.154837611G>A | CA414896606 | F8 | c.7042C>T (p.Gln2348Ter) c.775C>T (p.Gln259Ter) c.637C>T (p.Gln213Ter) c.6937C>T (p.Gln2313Ter) | |
| X | g.154837611G>C | CA414896610 | F8 | c.7042C>G (p.Gln2348Glu) c.775C>G (p.Gln259Glu) c.637C>G (p.Gln213Glu) c.6937C>G (p.Gln2313Glu) | |
| X | g.154837611G>T | CA414896613 | F8 | c.7042C>A (p.Gln2348Lys) c.775C>A (p.Gln259Lys) c.637C>A (p.Gln213Lys) c.6937C>A (p.Gln2313Lys) | |
| X | g.154837612T>A | CA519355169 | F8 | c.7041A>T (p.Ala2347=) c.774A>T (p.Ala258=) c.636A>T (p.Ala212=) c.6936A>T (p.Ala2312=) | |
| X | g.154837612T>C | CA519355171 | F8 | c.7041A>G (p.Ala2347=) c.774A>G (p.Ala258=) c.636A>G (p.Ala212=) c.6936A>G (p.Ala2312=) | |
| X | g.154837612T>G | CA519355170 | F8 | c.7041A>C (p.Ala2347=) c.774A>C (p.Ala258=) c.636A>C (p.Ala212=) c.6936A>C (p.Ala2312=) | |
| X | g.154837613G>A | CA414896616 | F8 | c.7040C>T (p.Ala2347Val) c.773C>T (p.Ala258Val) c.635C>T (p.Ala212Val) c.6935C>T (p.Ala2312Val) | |
| X | g.154837613G>C | CA414896617 | F8 | c.7040C>G (p.Ala2347Gly) c.773C>G (p.Ala258Gly) c.635C>G (p.Ala212Gly) c.6935C>G (p.Ala2312Gly) | |
| X | g.154837613G>T | CA414896614 | F8 | c.7040C>A (p.Ala2347Glu) c.773C>A (p.Ala258Glu) c.635C>A (p.Ala212Glu) c.6935C>A (p.Ala2312Glu) | |
| X | g.154837614C>A | CA414896621 | F8 | c.7039G>T (p.Ala2347Ser) c.772G>T (p.Ala258Ser) c.634G>T (p.Ala212Ser) c.6934G>T (p.Ala2312Ser) | |
| X | g.154837614C>G | CA414896620 | F8 | c.7039G>C (p.Ala2347Pro) c.772G>C (p.Ala258Pro) c.634G>C (p.Ala212Pro) c.6934G>C (p.Ala2312Pro) | |
| X | g.154837614C>T | CA414896622 | F8 | c.7039G>A (p.Ala2347Thr) c.772G>A (p.Ala258Thr) c.634G>A (p.Ala212Thr) c.6934G>A (p.Ala2312Thr) | |
| X | g.154837615C>A | CA414896624 | F8 | c.7038G>T (p.Glu2346Asp) c.771G>T (p.Glu257Asp) c.633G>T (p.Glu211Asp) c.6933G>T (p.Glu2311Asp) | |
| X | g.154837615C>G | CA414896627 | F8 | c.7038G>C (p.Glu2346Asp) c.771G>C (p.Glu257Asp) c.633G>C (p.Glu211Asp) c.6933G>C (p.Glu2311Asp) | gnomAD v4 |
| X | g.154837615C>T | CA519355173 | F8 | c.7038G>A (p.Glu2346=) c.771G>A (p.Glu257=) c.633G>A (p.Glu211=) c.6933G>A (p.Glu2311=) | |
| X | g.154837616T>A | CA414896630 | F8 | c.7037A>T (p.Glu2346Val) c.770A>T (p.Glu257Val) c.632A>T (p.Glu211Val) c.6932A>T (p.Glu2311Val) | |
| X | g.154837616T>C | CA414896633 | F8 | c.7037A>G (p.Glu2346Gly) c.770A>G (p.Glu257Gly) c.632A>G (p.Glu211Gly) c.6932A>G (p.Glu2311Gly) | |
| X | g.154837616T>G | CA414896636 | F8 | c.7037A>C (p.Glu2346Ala) c.770A>C (p.Glu257Ala) c.632A>C (p.Glu211Ala) c.6932A>C (p.Glu2311Ala) | |
| X | g.154837617C>A | CA414896639 | F8 | c.7036G>T (p.Glu2346Ter) c.769G>T (p.Glu257Ter) c.631G>T (p.Glu211Ter) c.6931G>T (p.Glu2311Ter) | |
| X | g.154837617C= | CA2466807418 | F8 | c.7036G= (p.Glu2346=) c.769G= (p.Glu257=) c.631G= (p.Glu211=) c.6931G= (p.Glu2311=) | |
| X | g.154837617C>G | CA414896642 | F8 | c.7036G>C (p.Glu2346Gln) c.769G>C (p.Glu257Gln) c.631G>C (p.Glu211Gln) c.6931G>C (p.Glu2311Gln) | dbSNP |
| X | g.154837617C>T | CA10567721 | F8 | c.7036G>A (p.Glu2346Lys) c.769G>A (p.Glu257Lys) c.631G>A (p.Glu211Lys) c.6931G>A (p.Glu2311Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837618G>A | CA519355177 | F8 | c.7035C>T (p.Cys2345=) c.768C>T (p.Cys256=) c.630C>T (p.Cys210=) c.6930C>T (p.Cys2310=) | dbSNP gnomAD v4 |
| X | g.154837618G>C | CA414896651 | F8 | c.7035C>G (p.Cys2345Trp) c.768C>G (p.Cys256Trp) c.630C>G (p.Cys210Trp) c.6930C>G (p.Cys2310Trp) | |
| X | g.154837618G= | CA2466807419 | F8 | c.7035C= (p.Cys2345=) c.768C= (p.Cys256=) c.630C= (p.Cys210=) c.6930C= (p.Cys2310=) | |
| X | g.154837618G>T | CA414896654 | F8 | c.7035C>A (p.Cys2345Ter) c.768C>A (p.Cys256Ter) c.630C>A (p.Cys210Ter) c.6930C>A (p.Cys2310Ter) | |
| X | g.154837619C>A | CA414896663 | F8 | c.7034G>T (p.Cys2345Phe) c.767G>T (p.Cys256Phe) c.629G>T (p.Cys210Phe) c.6929G>T (p.Cys2310Phe) | |
| X | g.154837619C>G | CA414896659 | F8 | c.7034G>C (p.Cys2345Ser) c.767G>C (p.Cys256Ser) c.629G>C (p.Cys210Ser) c.6929G>C (p.Cys2310Ser) | |
| X | g.154837619C>T | CA414896656 | F8 | c.7034G>A (p.Cys2345Tyr) c.767G>A (p.Cys256Tyr) c.629G>A (p.Cys210Tyr) c.6929G>A (p.Cys2310Tyr) | |
| X | g.154837620A= | CA2466807420 | F8 | c.7033T= (p.Cys2345=) c.766T= (p.Cys256=) c.628T= (p.Cys210=) c.6928T= (p.Cys2310=) | |
| X | g.154837620A>C | CA414896668 | F8 | c.7033T>G (p.Cys2345Gly) c.766T>G (p.Cys256Gly) c.628T>G (p.Cys210Gly) c.6928T>G (p.Cys2310Gly) |