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.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) | |
| X | g.154904000G>T | CA414906071 | F8 | c.5904C>A (p.Ser1968Arg) c.5799C>A (p.Ser1933Arg) | gnomAD v4 |
| X | g.154904001C>A | CA414906073 | F8 | c.5903G>T (p.Ser1968Ile) c.5798G>T (p.Ser1933Ile) | |
| X | g.154904001C= | CA2466828164 | F8 | c.5903G= (p.Ser1968=) c.5798G= (p.Ser1933=) | |
| X | g.154904001C>G | CA414906078 | F8 | c.5903G>C (p.Ser1968Thr) c.5798G>C (p.Ser1933Thr) | |
| X | g.154904001C>T | CA337318263 | F8 | c.5903G>A (p.Ser1968Asn) c.5798G>A (p.Ser1933Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154904002T>A | CA414906093 | F8 | c.5902A>T (p.Ser1968Cys) c.5797A>T (p.Ser1933Cys) | |
| X | g.154904002T>C | CA414906101 | F8 | c.5902A>G (p.Ser1968Gly) c.5797A>G (p.Ser1933Gly) | |
| X | g.154904002T>G | CA414906098 | F8 | c.5902A>C (p.Ser1968Arg) c.5797A>C (p.Ser1933Arg) | |
| X | g.154904003G>A | CA519356253 | F8 | c.5901C>T (p.Gly1967=) c.5796C>T (p.Gly1932=) | gnomAD v4 |
| X | g.154904003G>C | CA519356255 | F8 | c.5901C>G (p.Gly1967=) c.5796C>G (p.Gly1932=) | |
| X | g.154904003G>T | CA519356256 | F8 | c.5901C>A (p.Gly1967=) c.5796C>A (p.Gly1932=) | |
| X | g.154904004C>A | CA414906106 | F8 | c.5900G>T (p.Gly1967Val) c.5795G>T (p.Gly1932Val) | |
| X | g.154904004C= | CA2466828165 | F8 | c.5900G= (p.Gly1967=) c.5795G= (p.Gly1932=) | |
| X | g.154904004C>G | CA414906108 | F8 | c.5900G>C (p.Gly1967Ala) c.5795G>C (p.Gly1932Ala) | |
| X | g.154904004C>T | CA255188 | F8 | c.5900G>A (p.Gly1967Asp) c.5795G>A (p.Gly1932Asp) | ClinVar dbSNP |
| X | g.154904005C>A | CA414906111 | F8 | c.5899G>T (p.Gly1967Cys) c.5794G>T (p.Gly1932Cys) | |
| X | g.154904005C>G | CA414906113 | F8 | c.5899G>C (p.Gly1967Arg) c.5794G>C (p.Gly1932Arg) | |
| X | g.154904005C>T | CA414906115 | F8 | c.5899G>A (p.Gly1967Ser) c.5794G>A (p.Gly1932Ser) | |
| X | g.154904006C>A | CA414906123 | F8 | c.5898G>T (p.Met1966Ile) c.5793G>T (p.Met1931Ile) | |
| X | g.154904006C>G | CA414906126 | F8 | c.5898G>C (p.Met1966Ile) c.5793G>C (p.Met1931Ile) | |
| X | g.154904006C>T | CA414906131 | F8 | c.5898G>A (p.Met1966Ile) c.5793G>A (p.Met1931Ile) | |
| X | g.154904007A>C | CA414906135 | F8 | c.5897T>G (p.Met1966Arg) c.5792T>G (p.Met1931Arg) | |
| X | g.154904007A>G | CA414906137 | F8 | c.5897T>C (p.Met1966Thr) c.5792T>C (p.Met1931Thr) | gnomAD v4 |
| X | g.154904007A>T | CA414906132 | F8 | c.5897T>A (p.Met1966Lys) c.5792T>A (p.Met1931Lys) | |
| X | g.154904008T>A | CA414906143 | F8 | c.5896A>T (p.Met1966Leu) c.5791A>T (p.Met1931Leu) | gnomAD v4 |
| X | g.154904008T>C | CA414906149 | F8 | c.5896A>G (p.Met1966Val) c.5791A>G (p.Met1931Val) | dbSNP |
| X | g.154904008T>G | CA414906151 | F8 | c.5896A>C (p.Met1966Leu) c.5791A>C (p.Met1931Leu) | ClinVar dbSNP |
| X | g.154904008T= | CA2466828166 | F8 | c.5896A= (p.Met1966=) c.5791A= (p.Met1931=) | |
| X | g.154904009G>A | CA519356259 | F8 | c.5895C>T (p.Ser1965=) c.5790C>T (p.Ser1930=) | |
| X | g.154904009G>C | CA414906154 | F8 | c.5895C>G (p.Ser1965Arg) c.5790C>G (p.Ser1930Arg) |