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.154863089A>C | CA414906833 | F8 | c.6568T>G (p.Leu2190Val) c.301T>G (p.Leu101Val) c.163T>G (p.Leu55Val) c.6463T>G (p.Leu2155Val) | |
| X | g.154863089A>G | CA519357784 | F8 | c.6568T>C (p.Leu2190=) c.301T>C (p.Leu101=) c.163T>C (p.Leu55=) c.6463T>C (p.Leu2155=) | |
| X | g.154863089A>T | CA414906837 | F8 | c.6568T>A (p.Leu2190Ile) c.301T>A (p.Leu101Ile) c.163T>A (p.Leu55Ile) c.6463T>A (p.Leu2155Ile) | |
| X | g.154863090A= | CA2466815570 | F8 | c.6567T= (p.Asp2189=) c.300T= (p.Asp100=) c.162T= (p.Asp54=) c.6462T= (p.Asp2154=) | |
| X | g.154863090A>C | CA414906855 | F8 | c.6567T>G (p.Asp2189Glu) c.300T>G (p.Asp100Glu) c.162T>G (p.Asp54Glu) c.6462T>G (p.Asp2154Glu) | |
| X | g.154863090A>G | CA519357790 | F8 | c.6567T>C (p.Asp2189=) c.300T>C (p.Asp100=) c.162T>C (p.Asp54=) c.6462T>C (p.Asp2154=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863090A>T | CA414906857 | F8 | c.6567T>A (p.Asp2189Glu) c.300T>A (p.Asp100Glu) c.162T>A (p.Asp54Glu) c.6462T>A (p.Asp2154Glu) | |
| X | g.154863091T>A | CA414906863 | F8 | c.6566A>T (p.Asp2189Val) c.299A>T (p.Asp100Val) c.161A>T (p.Asp54Val) c.6461A>T (p.Asp2154Val) | |
| X | g.154863091T>C | CA414906867 | F8 | c.6566A>G (p.Asp2189Gly) c.299A>G (p.Asp100Gly) c.161A>G (p.Asp54Gly) c.6461A>G (p.Asp2154Gly) | |
| X | g.154863091T>G | CA414906871 | F8 | c.6566A>C (p.Asp2189Ala) c.299A>C (p.Asp100Ala) c.161A>C (p.Asp54Ala) c.6461A>C (p.Asp2154Ala) | |
| X | g.154863091_154863092del | CA2695237164 | F8 | c.6565_6566del (p.Asp2189PhefsTer3) c.298_299del (p.Asp100PhefsTer3) c.160_161del (p.Asp54PhefsTer3) c.6460_6461del (p.Asp2154PhefsTer3) | |
| X | g.154863092C>A | CA414906880 | F8 | c.6565G>T (p.Asp2189Tyr) c.298G>T (p.Asp100Tyr) c.160G>T (p.Asp54Tyr) c.6460G>T (p.Asp2154Tyr) | |
| X | g.154863092C>G | CA414906881 | F8 | c.6565G>C (p.Asp2189His) c.298G>C (p.Asp100His) c.160G>C (p.Asp54His) c.6460G>C (p.Asp2154His) | |
| X | g.154863092C>T | CA414906883 | F8 | c.6565G>A (p.Asp2189Asn) c.298G>A (p.Asp100Asn) c.160G>A (p.Asp54Asn) c.6460G>A (p.Asp2154Asn) | |
| X | g.154863093A= | CA2466815572 | F8 | c.6564T= (p.Cys2188=) c.297T= (p.Cys99=) c.159T= (p.Cys53=) c.6459T= (p.Cys2153=) | |
| X | g.154863093A>C | CA414906887 | F8 | c.6564T>G (p.Cys2188Trp) c.297T>G (p.Cys99Trp) c.159T>G (p.Cys53Trp) c.6459T>G (p.Cys2153Trp) | |
| X | g.154863093A>G | CA519357794 | F8 | c.6564T>C (p.Cys2188=) c.297T>C (p.Cys99=) c.159T>C (p.Cys53=) c.6459T>C (p.Cys2153=) | dbSNP |
| X | g.154863093A>T | CA414906893 | F8 | c.6564T>A (p.Cys2188Ter) c.297T>A (p.Cys99Ter) c.159T>A (p.Cys53Ter) c.6459T>A (p.Cys2153Ter) | |
| X | g.154863094C>A | CA414906896 | F8 | c.6563G>T (p.Cys2188Phe) c.296G>T (p.Cys99Phe) c.158G>T (p.Cys53Phe) c.6458G>T (p.Cys2153Phe) | |
| X | g.154863094C= | CA2466815574 | F8 | c.6563G= (p.Cys2188=) c.296G= (p.Cys99=) c.158G= (p.Cys53=) c.6458G= (p.Cys2153=) | |
| X | g.154863094C>G | CA414906903 | F8 | c.6563G>C (p.Cys2188Ser) c.296G>C (p.Cys99Ser) c.158G>C (p.Cys53Ser) c.6458G>C (p.Cys2153Ser) | |
| X | g.154863094C>T | CA414906899 | F8 | c.6563G>A (p.Cys2188Tyr) c.296G>A (p.Cys99Tyr) c.158G>A (p.Cys53Tyr) c.6458G>A (p.Cys2153Tyr) | dbSNP COSMIC COSMIC |
| X | g.154863095A>C | CA414906919 | F8 | c.6562T>G (p.Cys2188Gly) c.295T>G (p.Cys99Gly) c.157T>G (p.Cys53Gly) c.6457T>G (p.Cys2153Gly) | |
| X | g.154863095A>G | CA414906923 | F8 | c.6562T>C (p.Cys2188Arg) c.295T>C (p.Cys99Arg) c.157T>C (p.Cys53Arg) c.6457T>C (p.Cys2153Arg) | |
| X | g.154863095A>T | CA414906925 | F8 | c.6562T>A (p.Cys2188Ser) c.295T>A (p.Cys99Ser) c.157T>A (p.Cys53Ser) c.6457T>A (p.Cys2153Ser) | |
| X | g.154863096G>A | CA519357798 | F8 | c.6561C>T (p.Gly2187=) c.294C>T (p.Gly98=) c.156C>T (p.Gly52=) c.6456C>T (p.Gly2152=) | |
| X | g.154863096G>C | CA519357800 | F8 | c.6561C>G (p.Gly2187=) c.294C>G (p.Gly98=) c.156C>G (p.Gly52=) c.6456C>G (p.Gly2152=) | |
| X | g.154863096G>T | CA519357802 | F8 | c.6561C>A (p.Gly2187=) c.294C>A (p.Gly98=) c.156C>A (p.Gly52=) c.6456C>A (p.Gly2152=) | |
| X | g.154863097C>A | CA414906931 | F8 | c.6560G>T (p.Gly2187Val) c.293G>T (p.Gly98Val) c.155G>T (p.Gly52Val) c.6455G>T (p.Gly2152Val) | gnomAD v4 |
| X | g.154863097C= | CA2466815576 | F8 | c.6560G= (p.Gly2187=) c.293G= (p.Gly98=) c.155G= (p.Gly52=) c.6455G= (p.Gly2152=) | |
| X | g.154863097C>G | CA414906934 | F8 | c.6560G>C (p.Gly2187Ala) c.293G>C (p.Gly98Ala) c.155G>C (p.Gly52Ala) c.6455G>C (p.Gly2152Ala) | |
| X | g.154863097C>T | CA414906936 | F8 | c.6560G>A (p.Gly2187Asp) c.293G>A (p.Gly98Asp) c.155G>A (p.Gly52Asp) c.6455G>A (p.Gly2152Asp) | dbSNP |
| X | g.154863098C>A | CA414906941 | F8 | c.6559G>T (p.Gly2187Cys) c.292G>T (p.Gly98Cys) c.154G>T (p.Gly52Cys) c.6454G>T (p.Gly2152Cys) | |
| X | g.154863098C= | CA2466815578 | F8 | c.6559G= (p.Gly2187=) c.292G= (p.Gly98=) c.154G= (p.Gly52=) c.6454G= (p.Gly2152=) | |
| X | g.154863098C>G | CA414906947 | F8 | c.6559G>C (p.Gly2187Arg) c.292G>C (p.Gly98Arg) c.154G>C (p.Gly52Arg) c.6454G>C (p.Gly2152Arg) | |
| X | g.154863098C>T | CA414906950 | F8 | c.6559G>A (p.Gly2187Ser) c.292G>A (p.Gly98Ser) c.154G>A (p.Gly52Ser) c.6454G>A (p.Gly2152Ser) | dbSNP |
| X | g.154863099C>A | CA414906954 | F8 | c.6558G>T (p.Met2186Ile) c.291G>T (p.Met97Ile) c.153G>T (p.Met51Ile) c.6453G>T (p.Met2151Ile) | |
| X | g.154863099C= | CA2466815579 | F8 | c.6558G= (p.Met2186=) c.291G= (p.Met97=) c.153G= (p.Met51=) c.6453G= (p.Met2151=) | |
| X | g.154863099C>G | CA414906955 | F8 | c.6558G>C (p.Met2186Ile) c.291G>C (p.Met97Ile) c.153G>C (p.Met51Ile) c.6453G>C (p.Met2151Ile) | |
| X | g.154863099C>T | CA414906953 | F8 | c.6558G>A (p.Met2186Ile) c.291G>A (p.Met97Ile) c.153G>A (p.Met51Ile) c.6453G>A (p.Met2151Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154863100A= | CA2466815581 | F8 | c.6557T= (p.Met2186=) c.290T= (p.Met97=) c.152T= (p.Met51=) c.6452T= (p.Met2151=) | |
| X | g.154863100A>C | CA414906967 | F8 | c.6557T>G (p.Met2186Arg) c.290T>G (p.Met97Arg) c.152T>G (p.Met51Arg) c.6452T>G (p.Met2151Arg) | |
| X | g.154863100A>G | CA414906960 | F8 | c.6557T>C (p.Met2186Thr) c.290T>C (p.Met97Thr) c.152T>C (p.Met51Thr) c.6452T>C (p.Met2151Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863100A>T | CA414906964 | F8 | c.6557T>A (p.Met2186Lys) c.290T>A (p.Met97Lys) c.152T>A (p.Met51Lys) c.6452T>A (p.Met2151Lys) | |
| X | g.154863101T>A | CA414906972 | F8 | c.6556A>T (p.Met2186Leu) c.289A>T (p.Met97Leu) c.151A>T (p.Met51Leu) c.6451A>T (p.Met2151Leu) | |
| X | g.154863101T>C | CA414906975 | F8 | c.6556A>G (p.Met2186Val) c.289A>G (p.Met97Val) c.151A>G (p.Met51Val) c.6451A>G (p.Met2151Val) | |
| X | g.154863101T>G | CA414906980 | F8 | c.6556A>C (p.Met2186Leu) c.289A>C (p.Met97Leu) c.151A>C (p.Met51Leu) c.6451A>C (p.Met2151Leu) | |
| X | g.154863102C>A | CA414906983 | F8 | c.6555G>T (p.Leu2185Phe) c.288G>T (p.Leu96Phe) c.150G>T (p.Leu50Phe) c.6450G>T (p.Leu2150Phe) | |
| X | g.154863102C>G | CA414906985 | F8 | c.6555G>C (p.Leu2185Phe) c.288G>C (p.Leu96Phe) c.150G>C (p.Leu50Phe) c.6450G>C (p.Leu2150Phe) | |
| X | g.154863102C>T | CA519357812 | F8 | c.6555G>A (p.Leu2185=) c.288G>A (p.Leu96=) c.150G>A (p.Leu50=) c.6450G>A (p.Leu2150=) | gnomAD v4 |