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 |
|---|---|---|---|---|---|
| 5 | g.177095545_177095559dup | CA564898818 | FGFR4 | c.1643_1657dup (p.Cys552_Ala553insValIleValGluCys) c.1523_1537dup (p.Cys512_Ala513insValIleValGluCys) c.1439_1453dup (p.Cys484_Ala485insValIleValGluCys) n.629_643dup c.537_551dup c.1736_1750dup (p.Cys583_Ala584insValIleValGluCys) c.1325_1339dup (p.Cys446_Ala447insValIleValGluCys) n.1638_1652dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177095551T>A | CA16602608 | FGFR4 | c.1649T>A (p.Val550Glu) c.1529T>A (p.Val510Glu) c.1445T>A (p.Val482Glu) n.635T>A c.543T>A c.1742T>A (p.Val581Glu) c.1331T>A (p.Val444Glu) n.1644T>A | ClinVar dbSNP |
| 5 | g.177095551T>C | CA362297022 | FGFR4 | c.1649T>C (p.Val550Ala) c.1529T>C (p.Val510Ala) c.1445T>C (p.Val482Ala) n.635T>C c.543T>C c.1742T>C (p.Val581Ala) c.1331T>C (p.Val444Ala) n.1644T>C | |
| 5 | g.177095551T>G | CA362297020 | FGFR4 | c.1649T>G (p.Val550Gly) c.1529T>G (p.Val510Gly) c.1445T>G (p.Val482Gly) n.635T>G c.543T>G c.1742T>G (p.Val581Gly) c.1331T>G (p.Val444Gly) n.1644T>G | gnomAD v4 |
| 5 | g.177095551T= | CA1603404300 | FGFR4 | c.1649T= (p.Val550=) c.1529T= (p.Val510=) c.1445T= (p.Val482=) n.635T= c.543T= c.1742T= (p.Val581=) c.1331T= (p.Val444=) n.1644T= | |
| 5 | g.177095552G>A | CA447725529 | FGFR4 | c.1650G>A (p.Val550=) c.1530G>A (p.Val510=) c.1446G>A (p.Val482=) n.636G>A c.544G>A c.1743G>A (p.Val581=) c.1332G>A (p.Val444=) n.1645G>A | |
| 5 | g.177095552G>C | CA447725530 | FGFR4 | c.1650G>C (p.Val550=) c.1530G>C (p.Val510=) c.1446G>C (p.Val482=) n.636G>C c.544G>C c.1743G>C (p.Val581=) c.1332G>C (p.Val444=) n.1645G>C | |
| 5 | g.177095552G>T | CA447725531 | FGFR4 | c.1650G>T (p.Val550=) c.1530G>T (p.Val510=) c.1446G>T (p.Val482=) n.636G>T c.544G>T c.1743G>T (p.Val581=) c.1332G>T (p.Val444=) n.1645G>T | |
| 5 | g.177095553_177095559dup | CA2676683373 | FGFR4 | c.1651_1657dup (p.Ala553GlyfsTer31) c.1531_1537dup (p.Ala513GlyfsTer31) c.1447_1453dup (p.Ala485GlyfsTer31) n.637_643dup c.545_551dup c.1744_1750dup (p.Ala584GlyfsTer31) c.1333_1339dup (p.Ala447GlyfsTer31) n.1646_1652dup | gnomAD v4 |
| 5 | g.177095553G>A | CA362297023 | FGFR4 | c.1651G>A (p.Glu551Lys) c.1531G>A (p.Glu511Lys) c.1447G>A (p.Glu483Lys) n.637G>A c.545G>A c.1744G>A (p.Glu582Lys) c.1333G>A (p.Glu445Lys) n.1646G>A | |
| 5 | g.177095553G>C | CA362297026 | FGFR4 | c.1651G>C (p.Glu551Gln) c.1531G>C (p.Glu511Gln) c.1447G>C (p.Glu483Gln) n.637G>C c.545G>C c.1744G>C (p.Glu582Gln) c.1333G>C (p.Glu445Gln) n.1646G>C | |
| 5 | g.177095553G= | CA1603404301 | FGFR4 | c.1651G= (p.Glu551=) c.1531G= (p.Glu511=) c.1447G= (p.Glu483=) n.637G= c.545G= c.1744G= (p.Glu582=) c.1333G= (p.Glu445=) n.1646G= | |
| 5 | g.177095553G>T | CA362297027 | FGFR4 | c.1651G>T (p.Glu551Ter) c.1531G>T (p.Glu511Ter) c.1447G>T (p.Glu483Ter) n.637G>T c.545G>T c.1744G>T (p.Glu582Ter) c.1333G>T (p.Glu445Ter) n.1646G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177095554A>C | CA362297028 | FGFR4 | c.1652A>C (p.Glu551Ala) c.1532A>C (p.Glu511Ala) c.1448A>C (p.Glu483Ala) n.638A>C c.546A>C c.1745A>C (p.Glu582Ala) c.1334A>C (p.Glu445Ala) n.1647A>C | |
| 5 | g.177095554A>G | CA362297030 | FGFR4 | c.1652A>G (p.Glu551Gly) c.1532A>G (p.Glu511Gly) c.1448A>G (p.Glu483Gly) n.638A>G c.546A>G c.1745A>G (p.Glu582Gly) c.1334A>G (p.Glu445Gly) n.1647A>G | gnomAD v4 |
| 5 | g.177095554A>T | CA362297032 | FGFR4 | c.1652A>T (p.Glu551Val) c.1532A>T (p.Glu511Val) c.1448A>T (p.Glu483Val) n.638A>T c.546A>T c.1745A>T (p.Glu582Val) c.1334A>T (p.Glu445Val) n.1647A>T | gnomAD v4 |
| 5 | g.177095555G>A | CA447725533 | FGFR4 | c.1653G>A (p.Glu551=) c.1533G>A (p.Glu511=) c.1449G>A (p.Glu483=) n.639G>A c.547G>A c.1746G>A (p.Glu582=) c.1335G>A (p.Glu445=) n.1648G>A | gnomAD v4 |
| 5 | g.177095555G>C | CA362297034 | FGFR4 | c.1653G>C (p.Glu551Asp) c.1533G>C (p.Glu511Asp) c.1449G>C (p.Glu483Asp) n.639G>C c.547G>C c.1746G>C (p.Glu582Asp) c.1335G>C (p.Glu445Asp) n.1648G>C | |
| 5 | g.177095555G>T | CA362297035 | FGFR4 | c.1653G>T (p.Glu551Asp) c.1533G>T (p.Glu511Asp) c.1449G>T (p.Glu483Asp) n.639G>T c.547G>T c.1746G>T (p.Glu582Asp) c.1335G>T (p.Glu445Asp) n.1648G>T | |
| 5 | g.177095556T>A | CA362297037 | FGFR4 | c.1654T>A (p.Cys552Ser) c.1534T>A (p.Cys512Ser) c.1450T>A (p.Cys484Ser) n.640T>A c.548T>A c.1747T>A (p.Cys583Ser) c.1336T>A (p.Cys446Ser) n.1649T>A | |
| 5 | g.177095556T>C | CA3576507 | FGFR4 | c.1654T>C (p.Cys552Arg) c.1534T>C (p.Cys512Arg) c.1450T>C (p.Cys484Arg) n.640T>C c.548T>C c.1747T>C (p.Cys583Arg) c.1336T>C (p.Cys446Arg) n.1649T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177095556T>G | CA362297040 | FGFR4 | c.1654T>G (p.Cys552Gly) c.1534T>G (p.Cys512Gly) c.1450T>G (p.Cys484Gly) n.640T>G c.548T>G c.1747T>G (p.Cys583Gly) c.1336T>G (p.Cys446Gly) n.1649T>G | gnomAD v4 |
| 5 | g.177095556T= | CA1603404302 | FGFR4 | c.1654T= (p.Cys552=) c.1534T= (p.Cys512=) c.1450T= (p.Cys484=) n.640T= c.548T= c.1747T= (p.Cys583=) c.1336T= (p.Cys446=) n.1649T= | |
| 5 | g.177095557G>A | CA3576509 | FGFR4 | c.1655G>A (p.Cys552Tyr) c.1535G>A (p.Cys512Tyr) c.1451G>A (p.Cys484Tyr) n.641G>A c.549G>A c.1748G>A (p.Cys583Tyr) c.1337G>A (p.Cys446Tyr) n.1650G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177095557G>C | CA362297043 | FGFR4 | c.1655G>C (p.Cys552Ser) c.1535G>C (p.Cys512Ser) c.1451G>C (p.Cys484Ser) n.641G>C c.549G>C c.1748G>C (p.Cys583Ser) c.1337G>C (p.Cys446Ser) n.1650G>C | |
| 5 | g.177095557G= | CA1603404303 | FGFR4 | c.1655G= (p.Cys552=) c.1535G= (p.Cys512=) c.1451G= (p.Cys484=) n.641G= c.549G= c.1748G= (p.Cys583=) c.1337G= (p.Cys446=) n.1650G= | |
| 5 | g.177095557G>T | CA362297042 | FGFR4 | c.1655G>T (p.Cys552Phe) c.1535G>T (p.Cys512Phe) c.1451G>T (p.Cys484Phe) n.641G>T c.549G>T c.1748G>T (p.Cys583Phe) c.1337G>T (p.Cys446Phe) n.1650G>T | |
| 5 | g.177095557_177095560delinsGCGC | CA1603404304 | FGFR4 | c.1655_1658delinsGCGC (p.Cys552=) c.1535_1538delinsGCGC (p.Cys512=) c.1451_1454delinsGCGC (p.Cys484=) n.641_644delinsGCGC c.549_552delinsGCGC c.1748_1751delinsGCGC (p.Cys583=) c.1337_1340delinsGCGC (p.Cys446=) n.1650_1653delinsGCGC | |
| 5 | g.177095558C>A | CA362297047 | FGFR4 | c.1656C>A (p.Cys552Ter) c.1536C>A (p.Cys512Ter) c.1452C>A (p.Cys484Ter) n.642C>A c.550C>A c.1749C>A (p.Cys583Ter) c.1338C>A (p.Cys446Ter) n.1651C>A | dbSNP gnomAD v4 |
| 5 | g.177095558C= | CA1603404305 | FGFR4 | c.1656C= (p.Cys552=) c.1536C= (p.Cys512=) c.1452C= (p.Cys484=) n.642C= c.550C= c.1749C= (p.Cys583=) c.1338C= (p.Cys446=) n.1651C= | |
| 5 | g.177095558C>G | CA362297049 | FGFR4 | c.1656C>G (p.Cys552Trp) c.1536C>G (p.Cys512Trp) c.1452C>G (p.Cys484Trp) n.642C>G c.550C>G c.1749C>G (p.Cys583Trp) c.1338C>G (p.Cys446Trp) n.1651C>G | |
| 5 | g.177095558C>T | CA3576510 | FGFR4 | c.1656C>T (p.Cys552=) c.1536C>T (p.Cys512=) c.1452C>T (p.Cys484=) n.642C>T c.550C>T c.1749C>T (p.Cys583=) c.1338C>T (p.Cys446=) n.1651C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.177095562_177095564del | CA3576508 | FGFR4 | c.1660_1662del (p.Ala554del) c.1540_1542del (p.Ala514del) c.1456_1458del (p.Ala486del) n.646_648del c.554_556del c.1753_1755del (p.Ala585del) c.1342_1344del (p.Ala448del) n.1655_1657del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177095559G>A | CA3576511 | FGFR4 | c.1657G>A (p.Ala553Thr) c.1537G>A (p.Ala513Thr) c.1453G>A (p.Ala485Thr) n.643G>A c.551G>A c.1750G>A (p.Ala584Thr) c.1339G>A (p.Ala447Thr) n.1652G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177095559G>C | CA362297053 | FGFR4 | c.1657G>C (p.Ala553Pro) c.1537G>C (p.Ala513Pro) c.1453G>C (p.Ala485Pro) n.643G>C c.551G>C c.1750G>C (p.Ala584Pro) c.1339G>C (p.Ala447Pro) n.1652G>C | |
| 5 | g.177095559G= | CA1603404306 | FGFR4 | c.1657G= (p.Ala553=) c.1537G= (p.Ala513=) c.1453G= (p.Ala485=) n.643G= c.551G= c.1750G= (p.Ala584=) c.1339G= (p.Ala447=) n.1652G= | |
| 5 | g.177095559G>T | CA362297055 | FGFR4 | c.1657G>T (p.Ala553Ser) c.1537G>T (p.Ala513Ser) c.1453G>T (p.Ala485Ser) n.643G>T c.551G>T c.1750G>T (p.Ala584Ser) c.1339G>T (p.Ala447Ser) n.1652G>T | dbSNP gnomAD v4 |
| 5 | g.177095560C>A | CA362297056 | FGFR4 | c.1658C>A (p.Ala553Asp) c.1538C>A (p.Ala513Asp) c.1454C>A (p.Ala485Asp) n.644C>A c.552C>A c.1751C>A (p.Ala584Asp) c.1340C>A (p.Ala447Asp) n.1653C>A | |
| 5 | g.177095560C= | CA1603404307 | FGFR4 | c.1658C= (p.Ala553=) c.1538C= (p.Ala513=) c.1454C= (p.Ala485=) n.644C= c.552C= c.1751C= (p.Ala584=) c.1340C= (p.Ala447=) n.1653C= | |
| 5 | g.177095560C>G | CA362297058 | FGFR4 | c.1658C>G (p.Ala553Gly) c.1538C>G (p.Ala513Gly) c.1454C>G (p.Ala485Gly) n.644C>G c.552C>G c.1751C>G (p.Ala584Gly) c.1340C>G (p.Ala447Gly) n.1653C>G | |
| 5 | g.177095560C>T | CA132833067 | FGFR4 | c.1658C>T (p.Ala553Val) c.1538C>T (p.Ala513Val) c.1454C>T (p.Ala485Val) n.644C>T c.552C>T c.1751C>T (p.Ala584Val) c.1340C>T (p.Ala447Val) n.1653C>T | dbSNP gnomAD v4 |
| 5 | g.177095561dup | CA2676683379 | FGFR4 | c.1659dup (p.Ala554ArgfsTer28) c.1539dup (p.Ala514ArgfsTer28) c.1455dup (p.Ala486ArgfsTer28) n.645dup c.553dup c.1752dup (p.Ala585ArgfsTer28) c.1341dup (p.Ala448ArgfsTer28) n.1654dup | gnomAD v4 |
| 5 | g.177095561C>A | CA447725534 | FGFR4 | c.1659C>A (p.Ala553=) c.1539C>A (p.Ala513=) c.1455C>A (p.Ala485=) n.645C>A c.553C>A c.1752C>A (p.Ala584=) c.1341C>A (p.Ala447=) n.1654C>A | gnomAD v4 |
| 5 | g.177095561C= | CA1603404308 | FGFR4 | c.1659C= (p.Ala553=) c.1539C= (p.Ala513=) c.1455C= (p.Ala485=) n.645C= c.553C= c.1752C= (p.Ala584=) c.1341C= (p.Ala447=) n.1654C= | |
| 5 | g.177095561C>G | CA447725535 | FGFR4 | c.1659C>G (p.Ala553=) c.1539C>G (p.Ala513=) c.1455C>G (p.Ala485=) n.645C>G c.553C>G c.1752C>G (p.Ala584=) c.1341C>G (p.Ala447=) n.1654C>G | |
| 5 | g.177095561C>T | CA3576512 | FGFR4 | c.1659C>T (p.Ala553=) c.1539C>T (p.Ala513=) c.1455C>T (p.Ala485=) n.645C>T c.553C>T c.1752C>T (p.Ala584=) c.1341C>T (p.Ala447=) n.1654C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177095562G>A | CA3576513 | FGFR4 | c.1660G>A (p.Ala554Thr) c.1540G>A (p.Ala514Thr) c.1456G>A (p.Ala486Thr) n.646G>A c.554G>A c.1753G>A (p.Ala585Thr) c.1342G>A (p.Ala448Thr) n.1655G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177095562G>C | CA362297064 | FGFR4 | c.1660G>C (p.Ala554Pro) c.1540G>C (p.Ala514Pro) c.1456G>C (p.Ala486Pro) n.646G>C c.554G>C c.1753G>C (p.Ala585Pro) c.1342G>C (p.Ala448Pro) n.1655G>C | |
| 5 | g.177095562G= | CA1603404309 | FGFR4 | c.1660G= (p.Ala554=) c.1540G= (p.Ala514=) c.1456G= (p.Ala486=) n.646G= c.554G= c.1753G= (p.Ala585=) c.1342G= (p.Ala448=) n.1655G= | |
| 5 | g.177095562G>T | CA362297062 | FGFR4 | c.1660G>T (p.Ala554Ser) c.1540G>T (p.Ala514Ser) c.1456G>T (p.Ala486Ser) n.646G>T c.554G>T c.1753G>T (p.Ala585Ser) c.1342G>T (p.Ala448Ser) n.1655G>T |