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.154903986T>A | CA414905984 | F8 | c.5918A>T (p.His1973Leu) c.5813A>T (p.His1938Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.154903986T>C | CA414905988 | F8 | c.5918A>G (p.His1973Arg) c.5813A>G (p.His1938Arg) | dbSNP |
| X | g.154903986T>G | CA414905985 | F8 | c.5918A>C (p.His1973Pro) c.5813A>C (p.His1938Pro) | |
| X | g.154903986T= | CA2466828160 | F8 | c.5918A= (p.His1973=) c.5813A= (p.His1938=) | |
| X | g.154903987G>A | CA414905989 | F8 | c.5917C>T (p.His1973Tyr) c.5812C>T (p.His1938Tyr) | |
| X | g.154903987G>C | CA414905990 | F8 | c.5917C>G (p.His1973Asp) c.5812C>G (p.His1938Asp) | |
| X | g.154903987G>T | CA414905991 | F8 | c.5917C>A (p.His1973Asn) c.5812C>A (p.His1938Asn) | |
| X | g.154903988G>A | CA519356233 | F8 | c.5916C>T (p.Ile1972=) c.5811C>T (p.Ile1937=) | COSMIC COSMIC |
| X | g.154903988G>C | CA414905993 | F8 | c.5916C>G (p.Ile1972Met) c.5811C>G (p.Ile1937Met) | dbSNP |
| X | g.154903988G>T | CA519356236 | F8 | c.5916C>A (p.Ile1972=) c.5811C>A (p.Ile1937=) | |
| X | g.154903988_154903990delinsGAT | CA2466828161 | F8 | c.5914_5916delinsATC (p.Ile1972=) c.5809_5811delinsATC (p.Ile1937=) | |
| X | g.154903989A= | CA2466828162 | F8 | c.5915T= (p.Ile1972=) c.5810T= (p.Ile1937=) | |
| X | g.154903989A>C | CA414905995 | F8 | c.5915T>G (p.Ile1972Ser) c.5810T>G (p.Ile1937Ser) | |
| X | g.154903989A>G | CA414905996 | F8 | c.5915T>C (p.Ile1972Thr) c.5810T>C (p.Ile1937Thr) | dbSNP |
| X | g.154903989A>T | CA414905998 | F8 | c.5915T>A (p.Ile1972Asn) c.5810T>A (p.Ile1937Asn) | |
| X | g.154903989_154903990del | CA873340712 | F8 | c.5914_5915del (p.Ile1972ProfsTer19) c.5809_5810del (p.Ile1937ProfsTer19) | ClinVar dbSNP |
| X | g.154903990del | CA2695237957 | F8 | c.5914del (p.Ile1972SerfsTer?) c.5809del (p.Ile1937SerfsTer?) | |
| X | g.154903990T>A | CA414906012 | F8 | c.5914A>T (p.Ile1972Phe) c.5809A>T (p.Ile1937Phe) | |
| X | g.154903990T>C | CA414906015 | F8 | c.5914A>G (p.Ile1972Val) c.5809A>G (p.Ile1937Val) | |
| X | g.154903990T>G | CA414906017 | F8 | c.5914A>C (p.Ile1972Leu) c.5809A>C (p.Ile1937Leu) | |
| X | g.154903991G>A | CA519356239 | F8 | c.5913C>T (p.Asn1971=) c.5808C>T (p.Asn1936=) | |
| X | g.154903991G>C | CA414906027 | F8 | c.5913C>G (p.Asn1971Lys) c.5808C>G (p.Asn1936Lys) | |
| X | g.154903991G>T | CA414906024 | F8 | c.5913C>A (p.Asn1971Lys) c.5808C>A (p.Asn1936Lys) | |
| X | g.154903992T>A | CA414906029 | F8 | c.5912A>T (p.Asn1971Ile) c.5807A>T (p.Asn1936Ile) | |
| X | g.154903992T>C | CA414906031 | F8 | c.5912A>G (p.Asn1971Ser) c.5807A>G (p.Asn1936Ser) | |
| X | g.154903992T>G | CA414906034 | F8 | c.5912A>C (p.Asn1971Thr) c.5807A>C (p.Asn1936Thr) | |
| X | g.154903993T>A | CA414906037 | F8 | c.5911A>T (p.Asn1971Tyr) c.5806A>T (p.Asn1936Tyr) | |
| X | g.154903993T>C | CA414906038 | F8 | c.5911A>G (p.Asn1971Asp) c.5806A>G (p.Asn1936Asp) | |
| X | g.154903993T>G | CA414906039 | F8 | c.5911A>C (p.Asn1971His) c.5806A>C (p.Asn1936His) | dbSNP |
| X | g.154903993T= | CA2466828163 | F8 | c.5911A= (p.Asn1971=) c.5806A= (p.Asn1936=) | |
| X | g.154903994T>A | CA414906040 | F8 | c.5910A>T (p.Glu1970Asp) c.5805A>T (p.Glu1935Asp) | |
| X | g.154903994T>C | CA519356243 | F8 | c.5910A>G (p.Glu1970=) c.5805A>G (p.Glu1935=) | |
| X | g.154903994T>G | CA414906041 | F8 | c.5910A>C (p.Glu1970Asp) c.5805A>C (p.Glu1935Asp) | |
| X | g.154903995T>A | CA414906043 | F8 | c.5909A>T (p.Glu1970Val) c.5804A>T (p.Glu1935Val) | |
| X | g.154903995T>C | CA414906044 | F8 | c.5909A>G (p.Glu1970Gly) c.5804A>G (p.Glu1935Gly) | |
| X | g.154903995T>G | CA414906047 | F8 | c.5909A>C (p.Glu1970Ala) c.5804A>C (p.Glu1935Ala) | |
| X | g.154903996C>A | CA414906049 | F8 | c.5908G>T (p.Glu1970Ter) c.5803G>T (p.Glu1935Ter) | |
| X | g.154903996C>G | CA414906050 | F8 | c.5908G>C (p.Glu1970Gln) c.5803G>C (p.Glu1935Gln) | |
| X | g.154903996C>T | CA414906048 | F8 | c.5908G>A (p.Glu1970Lys) c.5803G>A (p.Glu1935Lys) | |
| X | g.154903997A>C | CA414906054 | F8 | c.5907T>G (p.Asn1969Lys) c.5802T>G (p.Asn1934Lys) | |
| X | g.154903997A>G | CA519356246 | F8 | c.5907T>C (p.Asn1969=) c.5802T>C (p.Asn1934=) | |
| X | g.154903997A>T | CA414906051 | F8 | c.5907T>A (p.Asn1969Lys) c.5802T>A (p.Asn1934Lys) | |
| X | g.154903998T>A | CA414906056 | F8 | c.5906A>T (p.Asn1969Ile) c.5801A>T (p.Asn1934Ile) | |
| X | g.154903998T>C | CA414906058 | F8 | c.5906A>G (p.Asn1969Ser) c.5801A>G (p.Asn1934Ser) | gnomAD v4 |
| X | g.154903998T>G | CA414906062 | F8 | c.5906A>C (p.Asn1969Thr) c.5801A>C (p.Asn1934Thr) | |
| X | g.154903999T>A | CA414906063 | F8 | c.5905A>T (p.Asn1969Tyr) c.5800A>T (p.Asn1934Tyr) | |
| X | g.154903999T>C | CA414906064 | F8 | c.5905A>G (p.Asn1969Asp) c.5800A>G (p.Asn1934Asp) | |
| X | g.154903999T>G | CA414906065 | F8 | c.5905A>C (p.Asn1969His) c.5800A>C (p.Asn1934His) | |
| X | g.154904000G>A | CA519356250 | F8 | c.5904C>T (p.Ser1968=) c.5799C>T (p.Ser1933=) | |
| X | g.154904000G>C | CA414906067 | F8 | c.5904C>G (p.Ser1968Arg) c.5799C>G (p.Ser1933Arg) |