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.53985047A>C | CA413252292 | PHF8 | c.2007T>G (p.Ala669=) c.2310T>G (p.Ala770=) c.*765T>G (n.*765T>G) c.*1752T>G (n.*1752T>G) n.1674T>G c.2259T>G (p.Ala753=) c.2418T>G (p.Ala806=) c.2021T>G c.1600T>G c.737T>G (p.Leu246Arg) c.2115T>G (p.Ala705=) | |
| X | g.53985047A>G | CA413252290 | PHF8 | c.2007T>C (p.Ala669=) c.2310T>C (p.Ala770=) c.*765T>C (n.*765T>C) c.*1752T>C (n.*1752T>C) n.1674T>C c.2259T>C (p.Ala753=) c.2418T>C (p.Ala806=) c.2021T>C c.1600T>C c.737T>C (p.Leu246Pro) c.2115T>C (p.Ala705=) | |
| X | g.53985047A>T | CA413252287 | PHF8 | c.2007T>A (p.Ala669=) c.2310T>A (p.Ala770=) c.*765T>A (n.*765T>A) c.*1752T>A (n.*1752T>A) n.1674T>A c.2259T>A (p.Ala753=) c.2418T>A (p.Ala806=) c.2021T>A c.1600T>A c.737T>A (p.Leu246His) c.2115T>A (p.Ala705=) | |
| X | g.53985048G>A | CA413252294 | PHF8 | c.2006C>T (p.Ala669Val) c.2309C>T (p.Ala770Val) c.*764C>T (n.*764C>T) c.*1751C>T (n.*1751C>T) n.1673C>T c.2258C>T (p.Ala753Val) c.2417C>T (p.Ala806Val) c.2020C>T c.1599C>T c.736C>T (p.Leu246Phe) c.2114C>T (p.Ala705Val) | dbSNP gnomAD v4 |
| X | g.53985048G>C | CA413252295 | PHF8 | c.2006C>G (p.Ala669Gly) c.2309C>G (p.Ala770Gly) c.*764C>G (n.*764C>G) c.*1751C>G (n.*1751C>G) n.1673C>G c.2258C>G (p.Ala753Gly) c.2417C>G (p.Ala806Gly) c.2020C>G c.1599C>G c.736C>G (p.Leu246Val) c.2114C>G (p.Ala705Gly) | |
| X | g.53985048G>T | CA413252298 | PHF8 | c.2006C>A (p.Ala669Asp) c.2309C>A (p.Ala770Asp) c.*764C>A (n.*764C>A) c.*1751C>A (n.*1751C>A) n.1673C>A c.2258C>A (p.Ala753Asp) c.2417C>A (p.Ala806Asp) c.2020C>A c.1599C>A c.736C>A (p.Leu246Ile) c.2114C>A (p.Ala705Asp) | |
| X | g.53985049C>A | CA413252300 | PHF8 | c.2005G>T (p.Ala669Ser) c.2308G>T (p.Ala770Ser) c.*763G>T (n.*763G>T) c.*1750G>T (n.*1750G>T) n.1672G>T c.2257G>T (p.Ala753Ser) c.2416G>T (p.Ala806Ser) c.2019G>T c.1598G>T c.735G>T (p.Leu245=) c.2113G>T (p.Ala705Ser) | COSMIC COSMIC COSMIC COSMIC |
| X | g.53985049C>G | CA413252302 | PHF8 | c.2005G>C (p.Ala669Pro) c.2308G>C (p.Ala770Pro) c.*763G>C (n.*763G>C) c.*1750G>C (n.*1750G>C) n.1672G>C c.2257G>C (p.Ala753Pro) c.2416G>C (p.Ala806Pro) c.2019G>C c.1598G>C c.735G>C (p.Leu245=) c.2113G>C (p.Ala705Pro) | ClinVar |
| X | g.53985049C>T | CA413252304 | PHF8 | c.2005G>A (p.Ala669Thr) c.2308G>A (p.Ala770Thr) c.*763G>A (n.*763G>A) c.*1750G>A (n.*1750G>A) n.1672G>A c.2257G>A (p.Ala753Thr) c.2416G>A (p.Ala806Thr) c.2019G>A c.1598G>A c.735G>A (p.Leu245=) c.2113G>A (p.Ala705Thr) | |
| X | g.53985050A>C | CA413252306 | PHF8 | c.2004T>G (p.Pro668=) c.2307T>G (p.Pro769=) c.*762T>G (n.*762T>G) c.*1749T>G (n.*1749T>G) n.1671T>G c.2256T>G (p.Pro752=) c.2415T>G (p.Pro805=) c.2018T>G c.1597T>G c.734T>G (p.Leu245Arg) c.2112T>G (p.Pro704=) | |
| X | g.53985050A>G | CA413252310 | PHF8 | c.2004T>C (p.Pro668=) c.2307T>C (p.Pro769=) c.*762T>C (n.*762T>C) c.*1749T>C (n.*1749T>C) n.1671T>C c.2256T>C (p.Pro752=) c.2415T>C (p.Pro805=) c.2018T>C c.1597T>C c.734T>C (p.Leu245Pro) c.2112T>C (p.Pro704=) | |
| X | g.53985050A>T | CA413252308 | PHF8 | c.2004T>A (p.Pro668=) c.2307T>A (p.Pro769=) c.*762T>A (n.*762T>A) c.*1749T>A (n.*1749T>A) n.1671T>A c.2256T>A (p.Pro752=) c.2415T>A (p.Pro805=) c.2018T>A c.1597T>A c.734T>A (p.Leu245Gln) c.2112T>A (p.Pro704=) | |
| X | g.53985051G>A | CA413252313 | PHF8 | c.2003C>T (p.Pro668Leu) c.2306C>T (p.Pro769Leu) c.*761C>T (n.*761C>T) c.*1748C>T (n.*1748C>T) n.1670C>T c.2255C>T (p.Pro752Leu) c.2414C>T (p.Pro805Leu) c.2017C>T c.1596C>T c.733C>T (p.Leu245=) c.2111C>T (p.Pro704Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.53985051G>C | CA413252316 | PHF8 | c.2003C>G (p.Pro668Arg) c.2306C>G (p.Pro769Arg) c.*761C>G (n.*761C>G) c.*1748C>G (n.*1748C>G) n.1670C>G c.2255C>G (p.Pro752Arg) c.2414C>G (p.Pro805Arg) c.2017C>G c.1596C>G c.733C>G (p.Leu245Val) c.2111C>G (p.Pro704Arg) | gnomAD v4 |
| X | g.53985051G= | CA2430030683 | PHF8 | c.2003C= (p.Pro668=) c.2306C= (p.Pro769=) c.*761C= (n.*761C=) c.*1748C= (n.*1748C=) n.1670C= c.2255C= (p.Pro752=) c.2414C= (p.Pro805=) c.2017C= c.1596C= c.733C= (p.Leu245=) c.2111C= (p.Pro704=) | |
| X | g.53985051G>T | CA413252318 | PHF8 | c.2003C>A (p.Pro668His) c.2306C>A (p.Pro769His) c.*761C>A (n.*761C>A) c.*1748C>A (n.*1748C>A) n.1670C>A c.2255C>A (p.Pro752His) c.2414C>A (p.Pro805His) c.2017C>A c.1596C>A c.733C>A (p.Leu245Met) c.2111C>A (p.Pro704His) | COSMIC COSMIC COSMIC |
| X | g.53985052G>A | CA413252321 | PHF8 | c.2002C>T (p.Pro668Ser) c.2305C>T (p.Pro769Ser) c.*760C>T (n.*760C>T) c.*1747C>T (n.*1747C>T) n.1669C>T c.2254C>T (p.Pro752Ser) c.2413C>T (p.Pro805Ser) c.2016C>T c.1595C>T c.732C>T (p.Val244=) c.2110C>T (p.Pro704Ser) | ClinVar gnomAD v4 |
| X | g.53985052G>C | CA413252323 | PHF8 | c.2002C>G (p.Pro668Ala) c.2305C>G (p.Pro769Ala) c.*760C>G (n.*760C>G) c.*1747C>G (n.*1747C>G) n.1669C>G c.2254C>G (p.Pro752Ala) c.2413C>G (p.Pro805Ala) c.2016C>G c.1595C>G c.732C>G (p.Val244=) c.2110C>G (p.Pro704Ala) | |
| X | g.53985052G>T | CA413252325 | PHF8 | c.2002C>A (p.Pro668Thr) c.2305C>A (p.Pro769Thr) c.*760C>A (n.*760C>A) c.*1747C>A (n.*1747C>A) n.1669C>A c.2254C>A (p.Pro752Thr) c.2413C>A (p.Pro805Thr) c.2016C>A c.1595C>A c.732C>A (p.Val244=) c.2110C>A (p.Pro704Thr) | |
| X | g.53985053A>C | CA413252328 | PHF8 | c.2001T>G (p.Ser667Arg) c.2304T>G (p.Ser768Arg) c.*759T>G (n.*759T>G) c.*1746T>G (n.*1746T>G) n.1668T>G c.2253T>G (p.Ser751Arg) c.2412T>G (p.Ser804Arg) c.2015T>G c.1594T>G c.731T>G (p.Val244Gly) c.2109T>G (p.Ser703Arg) | |
| X | g.53985053A>G | CA413252331 | PHF8 | c.2001T>C (p.Ser667=) c.2304T>C (p.Ser768=) c.*759T>C (n.*759T>C) c.*1746T>C (n.*1746T>C) n.1668T>C c.2253T>C (p.Ser751=) c.2412T>C (p.Ser804=) c.2015T>C c.1594T>C c.731T>C (p.Val244Ala) c.2109T>C (p.Ser703=) | |
| X | g.53985053A>T | CA413252333 | PHF8 | c.2001T>A (p.Ser667Arg) c.2304T>A (p.Ser768Arg) c.*759T>A (n.*759T>A) c.*1746T>A (n.*1746T>A) n.1668T>A c.2253T>A (p.Ser751Arg) c.2412T>A (p.Ser804Arg) c.2015T>A c.1594T>A c.731T>A (p.Val244Asp) c.2109T>A (p.Ser703Arg) | |
| X | g.53985054C>A | CA413252336 | PHF8 | c.2000G>T (p.Ser667Ile) c.2303G>T (p.Ser768Ile) c.*758G>T (n.*758G>T) c.*1745G>T (n.*1745G>T) n.1667G>T c.2252G>T (p.Ser751Ile) c.2411G>T (p.Ser804Ile) c.2014G>T c.1593G>T c.730G>T (p.Val244Phe) c.2108G>T (p.Ser703Ile) | |
| X | g.53985054C>G | CA413252338 | PHF8 | c.2000G>C (p.Ser667Thr) c.2303G>C (p.Ser768Thr) c.*758G>C (n.*758G>C) c.*1745G>C (n.*1745G>C) n.1667G>C c.2252G>C (p.Ser751Thr) c.2411G>C (p.Ser804Thr) c.2014G>C c.1593G>C c.730G>C (p.Val244Leu) c.2108G>C (p.Ser703Thr) | |
| X | g.53985054C>T | CA413252339 | PHF8 | c.2000G>A (p.Ser667Asn) c.2303G>A (p.Ser768Asn) c.*758G>A (n.*758G>A) c.*1745G>A (n.*1745G>A) n.1667G>A c.2252G>A (p.Ser751Asn) c.2411G>A (p.Ser804Asn) c.2014G>A c.1593G>A c.730G>A (p.Val244Ile) c.2108G>A (p.Ser703Asn) | |
| X | g.53985055T>A | CA413252343 | PHF8 | c.1999A>T (p.Ser667Cys) c.2302A>T (p.Ser768Cys) c.*757A>T (n.*757A>T) c.*1744A>T (n.*1744A>T) n.1666A>T c.2251A>T (p.Ser751Cys) c.2410A>T (p.Ser804Cys) c.2013A>T c.1592A>T c.729A>T (p.Thr243=) c.2107A>T (p.Ser703Cys) | |
| X | g.53985055T>C | CA413252347 | PHF8 | c.1999A>G (p.Ser667Gly) c.2302A>G (p.Ser768Gly) c.*757A>G (n.*757A>G) c.*1744A>G (n.*1744A>G) n.1666A>G c.2251A>G (p.Ser751Gly) c.2410A>G (p.Ser804Gly) c.2013A>G c.1592A>G c.729A>G (p.Thr243=) c.2107A>G (p.Ser703Gly) | |
| X | g.53985055T>G | CA413252345 | PHF8 | c.1999A>C (p.Ser667Arg) c.2302A>C (p.Ser768Arg) c.*757A>C (n.*757A>C) c.*1744A>C (n.*1744A>C) n.1666A>C c.2251A>C (p.Ser751Arg) c.2410A>C (p.Ser804Arg) c.2013A>C c.1592A>C c.729A>C (p.Thr243=) c.2107A>C (p.Ser703Arg) | |
| X | g.53985056G>A | CA413252349 | PHF8 | c.1998C>T (p.Asn666=) c.2301C>T (p.Asn767=) c.*756C>T (n.*756C>T) c.*1743C>T (n.*1743C>T) n.1665C>T c.2250C>T (p.Asn750=) c.2409C>T (p.Asn803=) c.2012C>T c.1591C>T c.728C>T (p.Thr243Ile) c.2106C>T (p.Asn702=) | |
| X | g.53985056G>C | CA413252351 | PHF8 | c.1998C>G (p.Asn666Lys) c.2301C>G (p.Asn767Lys) c.*756C>G (n.*756C>G) c.*1743C>G (n.*1743C>G) n.1665C>G c.2250C>G (p.Asn750Lys) c.2409C>G (p.Asn803Lys) c.2012C>G c.1591C>G c.728C>G (p.Thr243Arg) c.2106C>G (p.Asn702Lys) | |
| X | g.53985056G>T | CA413252353 | PHF8 | c.1998C>A (p.Asn666Lys) c.2301C>A (p.Asn767Lys) c.*756C>A (n.*756C>A) c.*1743C>A (n.*1743C>A) n.1665C>A c.2250C>A (p.Asn750Lys) c.2409C>A (p.Asn803Lys) c.2012C>A c.1591C>A c.728C>A (p.Thr243Lys) c.2106C>A (p.Asn702Lys) | |
| X | g.53985057T>A | CA413252357 | PHF8 | c.1997A>T (p.Asn666Ile) c.2300A>T (p.Asn767Ile) c.*755A>T (n.*755A>T) c.*1742A>T (n.*1742A>T) n.1664A>T c.2249A>T (p.Asn750Ile) c.2408A>T (p.Asn803Ile) c.2011A>T c.1590A>T c.727A>T (p.Thr243Ser) c.2105A>T (p.Asn702Ile) | |
| X | g.53985057T>C | CA413252358 | PHF8 | c.1997A>G (p.Asn666Ser) c.2300A>G (p.Asn767Ser) c.*755A>G (n.*755A>G) c.*1742A>G (n.*1742A>G) n.1664A>G c.2249A>G (p.Asn750Ser) c.2408A>G (p.Asn803Ser) c.2011A>G c.1590A>G c.727A>G (p.Thr243Ala) c.2105A>G (p.Asn702Ser) | |
| X | g.53985057T>G | CA413252360 | PHF8 | c.1997A>C (p.Asn666Thr) c.2300A>C (p.Asn767Thr) c.*755A>C (n.*755A>C) c.*1742A>C (n.*1742A>C) n.1664A>C c.2249A>C (p.Asn750Thr) c.2408A>C (p.Asn803Thr) c.2011A>C c.1590A>C c.727A>C (p.Thr243Pro) c.2105A>C (p.Asn702Thr) | |
| X | g.53985058del | CA2579619385 | PHF8 | c.1997del (p.Asn666ThrfsTer?) c.2300del (p.Asn767ThrfsTer?) c.*755del (n.*755del) c.*1742del (n.*1742del) n.1664del c.2249del (p.Asn750ThrfsTer?) c.2408del (p.Asn803ThrfsTer?) c.2011del c.1590del c.727del (p.Thr243GlnfsTer?) c.2105del (p.Asn702ThrfsTer?) | |
| X | g.53985058T>A | CA413252363 | PHF8 | c.1996A>T (p.Asn666Tyr) c.2299A>T (p.Asn767Tyr) c.*754A>T (n.*754A>T) c.*1741A>T (n.*1741A>T) n.1663A>T c.2248A>T (p.Asn750Tyr) c.2407A>T (p.Asn803Tyr) c.2010A>T c.1589A>T c.726A>T (p.Leu242=) c.2104A>T (p.Asn702Tyr) | |
| X | g.53985058T>C | CA10423311 | PHF8 | c.1996A>G (p.Asn666Asp) c.2299A>G (p.Asn767Asp) c.*754A>G (n.*754A>G) c.*1741A>G (n.*1741A>G) n.1663A>G c.2248A>G (p.Asn750Asp) c.2407A>G (p.Asn803Asp) c.2010A>G c.1589A>G c.726A>G (p.Leu242=) c.2104A>G (p.Asn702Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53985058T>G | CA413252366 | PHF8 | c.1996A>C (p.Asn666His) c.2299A>C (p.Asn767His) c.*754A>C (n.*754A>C) c.*1741A>C (n.*1741A>C) n.1663A>C c.2248A>C (p.Asn750His) c.2407A>C (p.Asn803His) c.2010A>C c.1589A>C c.726A>C (p.Leu242=) c.2104A>C (p.Asn702His) | |
| X | g.53985058T= | CA2430030684 | PHF8 | c.1996A= (p.Asn666=) c.2299A= (p.Asn767=) c.*754A= (n.*754A=) c.*1741A= (n.*1741A=) n.1663A= c.2248A= (p.Asn750=) c.2407A= (p.Asn803=) c.2010A= c.1589A= c.726A= (p.Leu242=) c.2104A= (p.Asn702=) | |
| X | g.53985059A>C | CA413252369 | PHF8 | c.1995T>G (p.Ser665=) c.2298T>G (p.Ser766=) c.*753T>G (n.*753T>G) c.*1740T>G (n.*1740T>G) n.1662T>G c.2247T>G (p.Ser749=) c.2406T>G (p.Ser802=) c.2009T>G c.1588T>G c.725T>G (p.Leu242Arg) c.2103T>G (p.Ser701=) | |
| X | g.53985059A>G | CA413252371 | PHF8 | c.1995T>C (p.Ser665=) c.2298T>C (p.Ser766=) c.*753T>C (n.*753T>C) c.*1740T>C (n.*1740T>C) n.1662T>C c.2247T>C (p.Ser749=) c.2406T>C (p.Ser802=) c.2009T>C c.1588T>C c.725T>C (p.Leu242Pro) c.2103T>C (p.Ser701=) | |
| X | g.53985059A>T | CA413252373 | PHF8 | c.1995T>A (p.Ser665=) c.2298T>A (p.Ser766=) c.*753T>A (n.*753T>A) c.*1740T>A (n.*1740T>A) n.1662T>A c.2247T>A (p.Ser749=) c.2406T>A (p.Ser802=) c.2009T>A c.1588T>A c.725T>A (p.Leu242Gln) c.2103T>A (p.Ser701=) | |
| X | g.53985059dup | CA2693828138 | PHF8 | c.1995dup (p.Asn666Ter) c.2298dup (p.Asn767Ter) c.*753dup (n.*753dup) c.*1740dup (n.*1740dup) n.1662dup c.2247dup (p.Asn750Ter) c.2406dup (p.Asn803Ter) c.2009dup c.1588dup c.725dup (p.Thr243AsnfsTer?) c.2103dup (p.Asn702Ter) | gnomAD v4 |
| X | g.53985060G>A | CA413252381 | PHF8 | c.1994C>T (p.Ser665Phe) c.2297C>T (p.Ser766Phe) c.*752C>T (n.*752C>T) c.*1739C>T (n.*1739C>T) n.1661C>T c.2246C>T (p.Ser749Phe) c.2405C>T (p.Ser802Phe) c.2008C>T c.1587C>T c.724C>T (p.Leu242=) c.2102C>T (p.Ser701Phe) | gnomAD v4 |
| X | g.53985060G>C | CA413252379 | PHF8 | c.1994C>G (p.Ser665Cys) c.2297C>G (p.Ser766Cys) c.*752C>G (n.*752C>G) c.*1739C>G (n.*1739C>G) n.1661C>G c.2246C>G (p.Ser749Cys) c.2405C>G (p.Ser802Cys) c.2008C>G c.1587C>G c.724C>G (p.Leu242Val) c.2102C>G (p.Ser701Cys) | |
| X | g.53985060G>T | CA413252377 | PHF8 | c.1994C>A (p.Ser665Tyr) c.2297C>A (p.Ser766Tyr) c.*752C>A (n.*752C>A) c.*1739C>A (n.*1739C>A) n.1661C>A c.2246C>A (p.Ser749Tyr) c.2405C>A (p.Ser802Tyr) c.2008C>A c.1587C>A c.724C>A (p.Leu242Ile) c.2102C>A (p.Ser701Tyr) | |
| X | g.53985061A>C | CA413252384 | PHF8 | c.1993T>G (p.Ser665Ala) c.2296T>G (p.Ser766Ala) c.*751T>G (n.*751T>G) c.*1738T>G (n.*1738T>G) n.1660T>G c.2245T>G (p.Ser749Ala) c.2404T>G (p.Ser802Ala) c.2007T>G c.1586T>G c.723T>G (p.Cys241Trp) c.2101T>G (p.Ser701Ala) | |
| X | g.53985061A>G | CA413252386 | PHF8 | c.1993T>C (p.Ser665Pro) c.2296T>C (p.Ser766Pro) c.*751T>C (n.*751T>C) c.*1738T>C (n.*1738T>C) n.1660T>C c.2245T>C (p.Ser749Pro) c.2404T>C (p.Ser802Pro) c.2007T>C c.1586T>C c.723T>C (p.Cys241=) c.2101T>C (p.Ser701Pro) | |
| X | g.53985061A>T | CA413252389 | PHF8 | c.1993T>A (p.Ser665Thr) c.2296T>A (p.Ser766Thr) c.*751T>A (n.*751T>A) c.*1738T>A (n.*1738T>A) n.1660T>A c.2245T>A (p.Ser749Thr) c.2404T>A (p.Ser802Thr) c.2007T>A c.1586T>A c.723T>A (p.Cys241Ter) c.2101T>A (p.Ser701Thr) | |
| X | g.53985062C>A | CA413252392 | PHF8 | c.1992G>T (p.Val664=) c.2295G>T (p.Val765=) c.*750G>T (n.*750G>T) c.*1737G>T (n.*1737G>T) n.1659G>T c.2244G>T (p.Val748=) c.2403G>T (p.Val801=) c.2006G>T c.1585G>T c.722G>T (p.Cys241Phe) c.2100G>T (p.Val700=) |