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.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 |
| X | g.154863103A= | CA2466815585 | F8 | c.6554T= (p.Leu2185=) c.287T= (p.Leu96=) c.149T= (p.Leu50=) c.6449T= (p.Leu2150=) | |
| X | g.154863103A>C | CA414906990 | F8 | c.6554T>G (p.Leu2185Trp) c.287T>G (p.Leu96Trp) c.149T>G (p.Leu50Trp) c.6449T>G (p.Leu2150Trp) | |
| X | g.154863103A>G | CA255028 | F8 | c.6554T>C (p.Leu2185Ser) c.287T>C (p.Leu96Ser) c.149T>C (p.Leu50Ser) c.6449T>C (p.Leu2150Ser) | ClinVar dbSNP |
| X | g.154863103A>T | CA414907001 | F8 | c.6554T>A (p.Leu2185Ter) c.287T>A (p.Leu96Ter) c.149T>A (p.Leu50Ter) c.6449T>A (p.Leu2150Ter) | |
| X | g.154863104A>C | CA414907005 | F8 | c.6553T>G (p.Leu2185Val) c.286T>G (p.Leu96Val) c.148T>G (p.Leu50Val) c.6448T>G (p.Leu2150Val) | |
| X | g.154863104A>G | CA519357816 | F8 | c.6553T>C (p.Leu2185=) c.286T>C (p.Leu96=) c.148T>C (p.Leu50=) c.6448T>C (p.Leu2150=) | |
| X | g.154863104A>T | CA414907015 | F8 | c.6553T>A (p.Leu2185Met) c.286T>A (p.Leu96Met) c.148T>A (p.Leu50Met) c.6448T>A (p.Leu2150Met) | |
| X | g.154863105C>A | CA414907022 | F8 | c.6552G>T (p.Glu2184Asp) c.285G>T (p.Glu95Asp) c.147G>T (p.Glu49Asp) c.6447G>T (p.Glu2149Asp) | |
| X | g.154863105C>G | CA414907018 | F8 | c.6552G>C (p.Glu2184Asp) c.285G>C (p.Glu95Asp) c.147G>C (p.Glu49Asp) c.6447G>C (p.Glu2149Asp) | |
| X | g.154863105C>T | CA519357819 | F8 | c.6552G>A (p.Glu2184=) c.285G>A (p.Glu95=) c.147G>A (p.Glu49=) c.6447G>A (p.Glu2149=) | |
| X | g.154863106T>A | CA414907023 | F8 | c.6551A>T (p.Glu2184Val) c.284A>T (p.Glu95Val) c.146A>T (p.Glu49Val) c.6446A>T (p.Glu2149Val) | |
| X | g.154863106T>C | CA414907024 | F8 | c.6551A>G (p.Glu2184Gly) c.284A>G (p.Glu95Gly) c.146A>G (p.Glu49Gly) c.6446A>G (p.Glu2149Gly) | ClinVar dbSNP |
| X | g.154863106T>G | CA414907026 | F8 | c.6551A>C (p.Glu2184Ala) c.284A>C (p.Glu95Ala) c.146A>C (p.Glu49Ala) c.6446A>C (p.Glu2149Ala) | dbSNP |
| X | g.154863106T= | CA2466815589 | F8 | c.6551A= (p.Glu2184=) c.284A= (p.Glu95=) c.146A= (p.Glu49=) c.6446A= (p.Glu2149=) | |
| X | g.154863107C>A | CA414907031 | F8 | c.6550G>T (p.Glu2184Ter) c.283G>T (p.Glu95Ter) c.145G>T (p.Glu49Ter) c.6445G>T (p.Glu2149Ter) | |
| X | g.154863107C>G | CA414907033 | F8 | c.6550G>C (p.Glu2184Gln) c.283G>C (p.Glu95Gln) c.145G>C (p.Glu49Gln) c.6445G>C (p.Glu2149Gln) | ClinVar dbSNP |
| X | g.154863107C>T | CA414907036 | F8 | c.6550G>A (p.Glu2184Lys) c.283G>A (p.Glu95Lys) c.145G>A (p.Glu49Lys) c.6445G>A (p.Glu2149Lys) | |
| X | g.154863108del | CA2695237165 | F8 | c.6550del (p.Glu2184SerfsTer2) c.283del (p.Glu95SerfsTer2) c.145del (p.Glu49SerfsTer2) c.6445del (p.Glu2149SerfsTer2) |