WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154945136_154948644dup | CA2580612538 | F8 | c.1904-736_2113+2563dup c.*1779+5249_*1779+8757dup (n.*1779+5249_*1779+8757dup) c.1799-736_2008+2563dup | ClinVar |
| X | g.154947722_154947723del | CA915940899 | F8 | c.2089_2090del (p.Val697LeufsTer?) c.*1779+6170_*1779+6171del (n.*1779+6170_*1779+6171del) c.1984_1985del (p.Val662LeufsTer?) | |
| X | g.154947723A>C | CA519356334 | F8 | c.2088T>G (p.Thr696=) c.*1779+6169T>G (n.*1779+6169T>G) c.1983T>G (p.Thr661=) | |
| X | g.154947723A>G | CA519356330 | F8 | c.2088T>C (p.Thr696=) c.*1779+6169T>C (n.*1779+6169T>C) c.1983T>C (p.Thr661=) | |
| X | g.154947723A>T | CA519356332 | F8 | c.2088T>A (p.Thr696=) c.*1779+6169T>A (n.*1779+6169T>A) c.1983T>A (p.Thr661=) | |
| X | g.154947725_154947746del | CA2695237201 | F8 | c.2067_2088del (p.Phe690SerfsTer25) c.*1779+6148_*1779+6169del (n.*1779+6148_*1779+6169del) c.1962_1983del (p.Phe655SerfsTer25) | |
| X | g.154947724G>A | CA414909018 | F8 | c.2087C>T (p.Thr696Ile) c.*1779+6168C>T (n.*1779+6168C>T) c.1982C>T (p.Thr661Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947724G>C | CA414909016 | F8 | c.2087C>G (p.Thr696Ser) c.*1779+6168C>G (n.*1779+6168C>G) c.1982C>G (p.Thr661Ser) | |
| X | g.154947724G= | CA2466842522 | F8 | c.2087C= (p.Thr696=) c.*1779+6168C= (n.*1779+6168C=) c.1982C= (p.Thr661=) | |
| X | g.154947724G>T | CA414909017 | F8 | c.2087C>A (p.Thr696Asn) c.*1779+6168C>A (n.*1779+6168C>A) c.1982C>A (p.Thr661Asn) | |
| X | g.154947725T>A | CA414909020 | F8 | c.2086A>T (p.Thr696Ser) c.*1779+6167A>T (n.*1779+6167A>T) c.1981A>T (p.Thr661Ser) | |
| X | g.154947725T>C | CA414909023 | F8 | c.2086A>G (p.Thr696Ala) c.*1779+6167A>G (n.*1779+6167A>G) c.1981A>G (p.Thr661Ala) | |
| X | g.154947725T>G | CA414909025 | F8 | c.2086A>C (p.Thr696Pro) c.*1779+6167A>C (n.*1779+6167A>C) c.1981A>C (p.Thr661Pro) | |
| X | g.154947726T>A | CA414909029 | F8 | c.2085A>T (p.Glu695Asp) c.*1779+6166A>T (n.*1779+6166A>T) c.1980A>T (p.Glu660Asp) | |
| X | g.154947726T>C | CA519356342 | F8 | c.2085A>G (p.Glu695=) c.*1779+6166A>G (n.*1779+6166A>G) c.1980A>G (p.Glu660=) | |
| X | g.154947726T>G | CA414909032 | F8 | c.2085A>C (p.Glu695Asp) c.*1779+6166A>C (n.*1779+6166A>C) c.1980A>C (p.Glu660Asp) | |
| X | g.154947727T>A | CA414909035 | F8 | c.2084A>T (p.Glu695Val) c.*1779+6165A>T (n.*1779+6165A>T) c.1979A>T (p.Glu660Val) | |
| X | g.154947727T>C | CA414909038 | F8 | c.2084A>G (p.Glu695Gly) c.*1779+6165A>G (n.*1779+6165A>G) c.1979A>G (p.Glu660Gly) | |
| X | g.154947727T>G | CA414909040 | F8 | c.2084A>C (p.Glu695Ala) c.*1779+6165A>C (n.*1779+6165A>C) c.1979A>C (p.Glu660Ala) | |
| X | g.154947727_154947728delinsA | CA2695237202 | F8 | c.2083_2084delinsT (p.Glu695Ter) c.*1779+6164_*1779+6165delinsT (n.*1779+6164_*1779+6165delinsT) c.1978_1979delinsT (p.Glu660Ter) | |
| X | g.154947728C>A | CA414909050 | F8 | c.2083G>T (p.Glu695Ter) c.*1779+6164G>T (n.*1779+6164G>T) c.1978G>T (p.Glu660Ter) | |
| X | g.154947728C>G | CA414909053 | F8 | c.2083G>C (p.Glu695Gln) c.*1779+6164G>C (n.*1779+6164G>C) c.1978G>C (p.Glu660Gln) | |
| X | g.154947728C>T | CA414909057 | F8 | c.2083G>A (p.Glu695Lys) c.*1779+6164G>A (n.*1779+6164G>A) c.1978G>A (p.Glu660Lys) | |
| X | g.154947729T>A | CA519356353 | F8 | c.2082A>T (p.Gly694=) c.*1779+6163A>T (n.*1779+6163A>T) c.1977A>T (p.Gly659=) | |
| X | g.154947729T>C | CA519356350 | F8 | c.2082A>G (p.Gly694=) c.*1779+6163A>G (n.*1779+6163A>G) c.1977A>G (p.Gly659=) | |
| X | g.154947729T>G | CA519356352 | F8 | c.2082A>C (p.Gly694=) c.*1779+6163A>C (n.*1779+6163A>C) c.1977A>C (p.Gly659=) | |
| X | g.154947730C>A | CA414909060 | F8 | c.2081G>T (p.Gly694Val) c.*1779+6162G>T (n.*1779+6162G>T) c.1976G>T (p.Gly659Val) | |
| X | g.154947730C>G | CA414909065 | F8 | c.2081G>C (p.Gly694Ala) c.*1779+6162G>C (n.*1779+6162G>C) c.1976G>C (p.Gly659Ala) | |
| X | g.154947730C>T | CA414909062 | F8 | c.2081G>A (p.Gly694Glu) c.*1779+6162G>A (n.*1779+6162G>A) c.1976G>A (p.Gly659Glu) | COSMIC COSMIC |
| X | g.154947731C>A | CA414909068 | F8 | c.2080G>T (p.Gly694Ter) c.*1779+6161G>T (n.*1779+6161G>T) c.1975G>T (p.Gly659Ter) | |
| X | g.154947731C>G | CA414909070 | F8 | c.2080G>C (p.Gly694Arg) c.*1779+6161G>C (n.*1779+6161G>C) c.1975G>C (p.Gly659Arg) | |
| X | g.154947731C>T | CA414909073 | F8 | c.2080G>A (p.Gly694Arg) c.*1779+6161G>A (n.*1779+6161G>A) c.1975G>A (p.Gly659Arg) | |
| X | g.154947732del | CA2579744645 | F8 | c.2079del (p.Gly694GlufsTer28) c.*1779+6160del (n.*1779+6160del) c.1974del (p.Gly659GlufsTer28) | |
| X | g.154947732T>A | CA519356361 | F8 | c.2079A>T (p.Ser693=) c.*1779+6160A>T (n.*1779+6160A>T) c.1974A>T (p.Ser658=) | |
| X | g.154947732T>C | CA519356362 | F8 | c.2079A>G (p.Ser693=) c.*1779+6160A>G (n.*1779+6160A>G) c.1974A>G (p.Ser658=) | |
| X | g.154947732T>G | CA519356364 | F8 | c.2079A>C (p.Ser693=) c.*1779+6160A>C (n.*1779+6160A>C) c.1974A>C (p.Ser658=) | gnomAD v4 |
| X | g.154947733G>A | CA414909075 | F8 | c.2078C>T (p.Ser693Leu) c.*1779+6159C>T (n.*1779+6159C>T) c.1973C>T (p.Ser658Leu) | |
| X | g.154947733G>C | CA414909078 | F8 | c.2078C>G (p.Ser693Ter) c.*1779+6159C>G (n.*1779+6159C>G) c.1973C>G (p.Ser658Ter) | |
| X | g.154947733G>T | CA414909079 | F8 | c.2078C>A (p.Ser693Ter) c.*1779+6159C>A (n.*1779+6159C>A) c.1973C>A (p.Ser658Ter) | |
| X | g.154947734A>C | CA414909082 | F8 | c.2077T>G (p.Ser693Ala) c.*1779+6158T>G (n.*1779+6158T>G) c.1972T>G (p.Ser658Ala) | |
| X | g.154947734A>G | CA414909084 | F8 | c.2077T>C (p.Ser693Pro) c.*1779+6158T>C (n.*1779+6158T>C) c.1972T>C (p.Ser658Pro) | |
| X | g.154947734A>T | CA414909085 | F8 | c.2077T>A (p.Ser693Thr) c.*1779+6158T>A (n.*1779+6158T>A) c.1972T>A (p.Ser658Thr) | |
| X | g.154947735G>A | CA519356371 | F8 | c.2076C>T (p.Phe692=) c.*1779+6157C>T (n.*1779+6157C>T) c.1971C>T (p.Phe657=) | gnomAD v4 |
| X | g.154947735G>C | CA414909086 | F8 | c.2076C>G (p.Phe692Leu) c.*1779+6157C>G (n.*1779+6157C>G) c.1971C>G (p.Phe657Leu) | |
| X | g.154947735G>T | CA414909087 | F8 | c.2076C>A (p.Phe692Leu) c.*1779+6157C>A (n.*1779+6157C>A) c.1971C>A (p.Phe657Leu) | |
| X | g.154947736A= | CA2466842523 | F8 | c.2075T= (p.Phe692=) c.*1779+6156T= (n.*1779+6156T=) c.1970T= (p.Phe657=) | |
| X | g.154947736A>C | CA414909089 | F8 | c.2075T>G (p.Phe692Cys) c.*1779+6156T>G (n.*1779+6156T>G) c.1970T>G (p.Phe657Cys) | |
| X | g.154947736A>G | CA414909091 | F8 | c.2075T>C (p.Phe692Ser) c.*1779+6156T>C (n.*1779+6156T>C) c.1970T>C (p.Phe657Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947736A>T | CA414909088 | F8 | c.2075T>A (p.Phe692Tyr) c.*1779+6156T>A (n.*1779+6156T>A) c.1970T>A (p.Phe657Tyr) | |
| X | g.154947737A>C | CA414909094 | F8 | c.2074T>G (p.Phe692Val) c.*1779+6155T>G (n.*1779+6155T>G) c.1969T>G (p.Phe657Val) |