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 |
|---|---|---|---|---|---|
| 11 | g.112016780G>A | CA382590438 | DIXDC1 | c.1846G>A (p.Val616Ile) n.842G>A c.1213G>A (p.Val405Ile) n.1199G>A c.1843G>A (p.Val615Ile) c.964G>A (p.Val322Ile) c.958G>A (p.Val320Ile) c.1738G>A (p.Val580Ile) c.1735G>A (p.Val579Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112016780G>C | CA382590440 | DIXDC1 | c.1846G>C (p.Val616Leu) n.842G>C c.1213G>C (p.Val405Leu) n.1199G>C c.1843G>C (p.Val615Leu) c.964G>C (p.Val322Leu) c.958G>C (p.Val320Leu) c.1738G>C (p.Val580Leu) c.1735G>C (p.Val579Leu) | |
| 11 | g.112016780G= | CA2000524069 | DIXDC1 | c.1846G= (p.Val616=) n.842G= c.1213G= (p.Val405=) n.1199G= c.1843G= (p.Val615=) c.964G= (p.Val322=) c.958G= (p.Val320=) c.1738G= (p.Val580=) c.1735G= (p.Val579=) | |
| 11 | g.112016780G>T | CA382590442 | DIXDC1 | c.1846G>T (p.Val616Phe) n.842G>T c.1213G>T (p.Val405Phe) n.1199G>T c.1843G>T (p.Val615Phe) c.964G>T (p.Val322Phe) c.958G>T (p.Val320Phe) c.1738G>T (p.Val580Phe) c.1735G>T (p.Val579Phe) | |
| 11 | g.112016781T>A | CA382590444 | DIXDC1 | c.1847T>A (p.Val616Asp) n.843T>A c.1214T>A (p.Val405Asp) n.1200T>A c.1844T>A (p.Val615Asp) c.965T>A (p.Val322Asp) c.959T>A (p.Val320Asp) c.1739T>A (p.Val580Asp) c.1736T>A (p.Val579Asp) | |
| 11 | g.112016781T>C | CA382590445 | DIXDC1 | c.1847T>C (p.Val616Ala) n.843T>C c.1214T>C (p.Val405Ala) n.1200T>C c.1844T>C (p.Val615Ala) c.965T>C (p.Val322Ala) c.959T>C (p.Val320Ala) c.1739T>C (p.Val580Ala) c.1736T>C (p.Val579Ala) | gnomAD v4 |
| 11 | g.112016781T>G | CA382590446 | DIXDC1 | c.1847T>G (p.Val616Gly) n.843T>G c.1214T>G (p.Val405Gly) n.1200T>G c.1844T>G (p.Val615Gly) c.965T>G (p.Val322Gly) c.959T>G (p.Val320Gly) c.1739T>G (p.Val580Gly) c.1736T>G (p.Val579Gly) | |
| 11 | g.112016782C>A | CA476785629 | DIXDC1 | c.1848C>A (p.Val616=) n.844C>A c.1215C>A (p.Val405=) n.1201C>A c.1845C>A (p.Val615=) c.966C>A (p.Val322=) c.960C>A (p.Val320=) c.1740C>A (p.Val580=) c.1737C>A (p.Val579=) | gnomAD v4 |
| 11 | g.112016782C>G | CA476785627 | DIXDC1 | c.1848C>G (p.Val616=) n.844C>G c.1215C>G (p.Val405=) n.1201C>G c.1845C>G (p.Val615=) c.966C>G (p.Val322=) c.960C>G (p.Val320=) c.1740C>G (p.Val580=) c.1737C>G (p.Val579=) | |
| 11 | g.112016782C>T | CA476785626 | DIXDC1 | c.1848C>T (p.Val616=) n.844C>T c.1215C>T (p.Val405=) n.1201C>T c.1845C>T (p.Val615=) c.966C>T (p.Val322=) c.960C>T (p.Val320=) c.1740C>T (p.Val580=) c.1737C>T (p.Val579=) | |
| 11 | g.112016783A>C | CA382590447 | DIXDC1 | c.1849A>C (p.Asn617His) n.845A>C c.1216A>C (p.Asn406His) n.1202A>C c.1846A>C (p.Asn616His) c.967A>C (p.Asn323His) c.961A>C (p.Asn321His) c.1741A>C (p.Asn581His) c.1738A>C (p.Asn580His) | |
| 11 | g.112016783A>G | CA382590449 | DIXDC1 | c.1849A>G (p.Asn617Asp) n.845A>G c.1216A>G (p.Asn406Asp) n.1202A>G c.1846A>G (p.Asn616Asp) c.967A>G (p.Asn323Asp) c.961A>G (p.Asn321Asp) c.1741A>G (p.Asn581Asp) c.1738A>G (p.Asn580Asp) | gnomAD v4 |
| 11 | g.112016783A>T | CA382590450 | DIXDC1 | c.1849A>T (p.Asn617Tyr) n.845A>T c.1216A>T (p.Asn406Tyr) n.1202A>T c.1846A>T (p.Asn616Tyr) c.967A>T (p.Asn323Tyr) c.961A>T (p.Asn321Tyr) c.1741A>T (p.Asn581Tyr) c.1738A>T (p.Asn580Tyr) | |
| 11 | g.112016784A>C | CA382590451 | DIXDC1 | c.1850A>C (p.Asn617Thr) n.846A>C c.1217A>C (p.Asn406Thr) n.1203A>C c.1847A>C (p.Asn616Thr) c.968A>C (p.Asn323Thr) c.962A>C (p.Asn321Thr) c.1742A>C (p.Asn581Thr) c.1739A>C (p.Asn580Thr) | |
| 11 | g.112016784A>G | CA382590453 | DIXDC1 | c.1850A>G (p.Asn617Ser) n.846A>G c.1217A>G (p.Asn406Ser) n.1203A>G c.1847A>G (p.Asn616Ser) c.968A>G (p.Asn323Ser) c.962A>G (p.Asn321Ser) c.1742A>G (p.Asn581Ser) c.1739A>G (p.Asn580Ser) | gnomAD v4 |
| 11 | g.112016784A>T | CA382590455 | DIXDC1 | c.1850A>T (p.Asn617Ile) n.846A>T c.1217A>T (p.Asn406Ile) n.1203A>T c.1847A>T (p.Asn616Ile) c.968A>T (p.Asn323Ile) c.962A>T (p.Asn321Ile) c.1742A>T (p.Asn581Ile) c.1739A>T (p.Asn580Ile) | |
| 11 | g.112016785T>A | CA382590457 | DIXDC1 | c.1851T>A (p.Asn617Lys) n.847T>A c.1218T>A (p.Asn406Lys) n.1204T>A c.1848T>A (p.Asn616Lys) c.969T>A (p.Asn323Lys) c.963T>A (p.Asn321Lys) c.1743T>A (p.Asn581Lys) c.1740T>A (p.Asn580Lys) | |
| 11 | g.112016785T>C | CA476785637 | DIXDC1 | c.1851T>C (p.Asn617=) n.847T>C c.1218T>C (p.Asn406=) n.1204T>C c.1848T>C (p.Asn616=) c.969T>C (p.Asn323=) c.963T>C (p.Asn321=) c.1743T>C (p.Asn581=) c.1740T>C (p.Asn580=) | gnomAD v4 |
| 11 | g.112016785T>G | CA382590459 | DIXDC1 | c.1851T>G (p.Asn617Lys) n.847T>G c.1218T>G (p.Asn406Lys) n.1204T>G c.1848T>G (p.Asn616Lys) c.969T>G (p.Asn323Lys) c.963T>G (p.Asn321Lys) c.1743T>G (p.Asn581Lys) c.1740T>G (p.Asn580Lys) | |
| 11 | g.112016786A= | CA2000524070 | DIXDC1 | c.1852A= (p.Ile618=) n.848A= c.1219A= (p.Ile407=) n.1205A= c.1849A= (p.Ile617=) c.970A= (p.Ile324=) c.964A= (p.Ile322=) c.1744A= (p.Ile582=) c.1741A= (p.Ile581=) | |
| 11 | g.112016786A>C | CA382590462 | DIXDC1 | c.1852A>C (p.Ile618Leu) n.848A>C c.1219A>C (p.Ile407Leu) n.1205A>C c.1849A>C (p.Ile617Leu) c.970A>C (p.Ile324Leu) c.964A>C (p.Ile322Leu) c.1744A>C (p.Ile582Leu) c.1741A>C (p.Ile581Leu) | |
| 11 | g.112016786A>G | CA382590464 | DIXDC1 | c.1852A>G (p.Ile618Val) n.848A>G c.1219A>G (p.Ile407Val) n.1205A>G c.1849A>G (p.Ile617Val) c.970A>G (p.Ile324Val) c.964A>G (p.Ile322Val) c.1744A>G (p.Ile582Val) c.1741A>G (p.Ile581Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112016786A>T | CA382590466 | DIXDC1 | c.1852A>T (p.Ile618Leu) n.848A>T c.1219A>T (p.Ile407Leu) n.1205A>T c.1849A>T (p.Ile617Leu) c.970A>T (p.Ile324Leu) c.964A>T (p.Ile322Leu) c.1744A>T (p.Ile582Leu) c.1741A>T (p.Ile581Leu) | |
| 11 | g.112016787T>A | CA382590468 | DIXDC1 | c.1853T>A (p.Ile618Lys) n.849T>A c.1220T>A (p.Ile407Lys) n.1206T>A c.1850T>A (p.Ile617Lys) c.971T>A (p.Ile324Lys) c.965T>A (p.Ile322Lys) c.1745T>A (p.Ile582Lys) c.1742T>A (p.Ile581Lys) | |
| 11 | g.112016787T>C | CA382590470 | DIXDC1 | c.1853T>C (p.Ile618Thr) n.849T>C c.1220T>C (p.Ile407Thr) n.1206T>C c.1850T>C (p.Ile617Thr) c.971T>C (p.Ile324Thr) c.965T>C (p.Ile322Thr) c.1745T>C (p.Ile582Thr) c.1742T>C (p.Ile581Thr) | |
| 11 | g.112016787T>G | CA382590472 | DIXDC1 | c.1853T>G (p.Ile618Arg) n.849T>G c.1220T>G (p.Ile407Arg) n.1206T>G c.1850T>G (p.Ile617Arg) c.971T>G (p.Ile324Arg) c.965T>G (p.Ile322Arg) c.1745T>G (p.Ile582Arg) c.1742T>G (p.Ile581Arg) | |
| 11 | g.112016787T= | CA2000524071 | DIXDC1 | c.1853T= (p.Ile618=) n.849T= c.1220T= (p.Ile407=) n.1206T= c.1850T= (p.Ile617=) c.971T= (p.Ile324=) c.965T= (p.Ile322=) c.1745T= (p.Ile582=) c.1742T= (p.Ile581=) | |
| 11 | g.112016788A>C | CA476785645 | DIXDC1 | c.1854A>C (p.Ile618=) n.850A>C c.1221A>C (p.Ile407=) n.1207A>C c.1851A>C (p.Ile617=) c.972A>C (p.Ile324=) c.966A>C (p.Ile322=) c.1746A>C (p.Ile582=) c.1743A>C (p.Ile581=) | |
| 11 | g.112016788A>G | CA382590474 | DIXDC1 | c.1854A>G (p.Ile618Met) n.850A>G c.1221A>G (p.Ile407Met) n.1207A>G c.1851A>G (p.Ile617Met) c.972A>G (p.Ile324Met) c.966A>G (p.Ile322Met) c.1746A>G (p.Ile582Met) c.1743A>G (p.Ile581Met) | |
| 11 | g.112016788A>T | CA476785648 | DIXDC1 | c.1854A>T (p.Ile618=) n.850A>T c.1221A>T (p.Ile407=) n.1207A>T c.1851A>T (p.Ile617=) c.972A>T (p.Ile324=) c.966A>T (p.Ile322=) c.1746A>T (p.Ile582=) c.1743A>T (p.Ile581=) | |
| 11 | g.112016788dup | CA671773604 | DIXDC1 | c.1854dup (p.Pro619ThrfsTer13) n.850dup c.1221dup (p.Pro408ThrfsTer13) n.1207dup c.1851dup (p.Pro618ThrfsTer13) c.972dup (p.Pro325ThrfsTer13) c.966dup (p.Pro323ThrfsTer13) c.1746dup (p.Pro583ThrfsTer13) c.1743dup (p.Pro582ThrfsTer13) | dbSNP gnomAD v4 |
| 11 | g.112016789C>A | CA382590477 | DIXDC1 | c.1855C>A (p.Pro619Thr) n.851C>A c.1222C>A (p.Pro408Thr) n.1208C>A c.1852C>A (p.Pro618Thr) c.973C>A (p.Pro325Thr) c.967C>A (p.Pro323Thr) c.1747C>A (p.Pro583Thr) c.1744C>A (p.Pro582Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112016789C= | CA2000524072 | DIXDC1 | c.1855C= (p.Pro619=) n.851C= c.1222C= (p.Pro408=) n.1208C= c.1852C= (p.Pro618=) c.973C= (p.Pro325=) c.967C= (p.Pro323=) c.1747C= (p.Pro583=) c.1744C= (p.Pro582=) | |
| 11 | g.112016789C>G | CA6276431 | DIXDC1 | c.1855C>G (p.Pro619Ala) n.851C>G c.1222C>G (p.Pro408Ala) n.1208C>G c.1852C>G (p.Pro618Ala) c.973C>G (p.Pro325Ala) c.967C>G (p.Pro323Ala) c.1747C>G (p.Pro583Ala) c.1744C>G (p.Pro582Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112016789C>T | CA382590481 | DIXDC1 | c.1855C>T (p.Pro619Ser) n.851C>T c.1222C>T (p.Pro408Ser) n.1208C>T c.1852C>T (p.Pro618Ser) c.973C>T (p.Pro325Ser) c.967C>T (p.Pro323Ser) c.1747C>T (p.Pro583Ser) c.1744C>T (p.Pro582Ser) | |
| 11 | g.112016790C>A | CA382590483 | DIXDC1 | c.1856C>A (p.Pro619Gln) n.852C>A c.1223C>A (p.Pro408Gln) n.1209C>A c.1853C>A (p.Pro618Gln) c.974C>A (p.Pro325Gln) c.968C>A (p.Pro323Gln) c.1748C>A (p.Pro583Gln) c.1745C>A (p.Pro582Gln) | dbSNP |
| 11 | g.112016790C= | CA2000524073 | DIXDC1 | c.1856C= (p.Pro619=) n.852C= c.1223C= (p.Pro408=) n.1209C= c.1853C= (p.Pro618=) c.974C= (p.Pro325=) c.968C= (p.Pro323=) c.1748C= (p.Pro583=) c.1745C= (p.Pro582=) | |
| 11 | g.112016790C>G | CA382590485 | DIXDC1 | c.1856C>G (p.Pro619Arg) n.852C>G c.1223C>G (p.Pro408Arg) n.1209C>G c.1853C>G (p.Pro618Arg) c.974C>G (p.Pro325Arg) c.968C>G (p.Pro323Arg) c.1748C>G (p.Pro583Arg) c.1745C>G (p.Pro582Arg) | |
| 11 | g.112016790C>T | CA382590487 | DIXDC1 | c.1856C>T (p.Pro619Leu) n.852C>T c.1223C>T (p.Pro408Leu) n.1209C>T c.1853C>T (p.Pro618Leu) c.974C>T (p.Pro325Leu) c.968C>T (p.Pro323Leu) c.1748C>T (p.Pro583Leu) c.1745C>T (p.Pro582Leu) | gnomAD v4 |
| 11 | g.112016791A>C | CA476785652 | DIXDC1 | c.1857A>C (p.Pro619=) n.853A>C c.1224A>C (p.Pro408=) n.1210A>C c.1854A>C (p.Pro618=) c.975A>C (p.Pro325=) c.969A>C (p.Pro323=) c.1749A>C (p.Pro583=) c.1746A>C (p.Pro582=) | |
| 11 | g.112016791A>G | CA476785653 | DIXDC1 | c.1857A>G (p.Pro619=) n.853A>G c.1224A>G (p.Pro408=) n.1210A>G c.1854A>G (p.Pro618=) c.975A>G (p.Pro325=) c.969A>G (p.Pro323=) c.1749A>G (p.Pro583=) c.1746A>G (p.Pro582=) | |
| 11 | g.112016791A>T | CA476785654 | DIXDC1 | c.1857A>T (p.Pro619=) n.853A>T c.1224A>T (p.Pro408=) n.1210A>T c.1854A>T (p.Pro618=) c.975A>T (p.Pro325=) c.969A>T (p.Pro323=) c.1749A>T (p.Pro583=) c.1746A>T (p.Pro582=) | |
| 11 | g.112016792A>C | CA382590490 | DIXDC1 | c.1858A>C (p.Lys620Gln) n.854A>C c.1225A>C (p.Lys409Gln) n.1211A>C c.1855A>C (p.Lys619Gln) c.976A>C (p.Lys326Gln) c.970A>C (p.Lys324Gln) c.1750A>C (p.Lys584Gln) c.1747A>C (p.Lys583Gln) | |
| 11 | g.112016792A>G | CA382590494 | DIXDC1 | c.1858A>G (p.Lys620Glu) n.854A>G c.1225A>G (p.Lys409Glu) n.1211A>G c.1855A>G (p.Lys619Glu) c.976A>G (p.Lys326Glu) c.970A>G (p.Lys324Glu) c.1750A>G (p.Lys584Glu) c.1747A>G (p.Lys583Glu) | |
| 11 | g.112016792A>T | CA382590492 | DIXDC1 | c.1858A>T (p.Lys620Ter) n.854A>T c.1225A>T (p.Lys409Ter) n.1211A>T c.1855A>T (p.Lys619Ter) c.976A>T (p.Lys326Ter) c.970A>T (p.Lys324Ter) c.1750A>T (p.Lys584Ter) c.1747A>T (p.Lys583Ter) | |
| 11 | g.112016793A>C | CA382590497 | DIXDC1 | c.1859A>C (p.Lys620Thr) n.855A>C c.1226A>C (p.Lys409Thr) n.1212A>C c.1856A>C (p.Lys619Thr) c.977A>C (p.Lys326Thr) c.971A>C (p.Lys324Thr) c.1751A>C (p.Lys584Thr) c.1748A>C (p.Lys583Thr) | |
| 11 | g.112016793A>G | CA382590499 | DIXDC1 | c.1859A>G (p.Lys620Arg) n.855A>G c.1226A>G (p.Lys409Arg) n.1212A>G c.1856A>G (p.Lys619Arg) c.977A>G (p.Lys326Arg) c.971A>G (p.Lys324Arg) c.1751A>G (p.Lys584Arg) c.1748A>G (p.Lys583Arg) | |
| 11 | g.112016793A>T | CA382590501 | DIXDC1 | c.1859A>T (p.Lys620Met) n.855A>T c.1226A>T (p.Lys409Met) n.1212A>T c.1856A>T (p.Lys619Met) c.977A>T (p.Lys326Met) c.971A>T (p.Lys324Met) c.1751A>T (p.Lys584Met) c.1748A>T (p.Lys583Met) | |
| 11 | g.112016794G>A | CA476785656 | DIXDC1 | c.1860G>A (p.Lys620=) n.856G>A c.1227G>A (p.Lys409=) n.1213G>A c.1857G>A (p.Lys619=) c.978G>A (p.Lys326=) c.972G>A (p.Lys324=) c.1752G>A (p.Lys584=) c.1749G>A (p.Lys583=) | |
| 11 | g.112016794G>C | CA382590504 | DIXDC1 | c.1860G>C (p.Lys620Asn) n.856G>C c.1227G>C (p.Lys409Asn) n.1213G>C c.1857G>C (p.Lys619Asn) c.978G>C (p.Lys326Asn) c.972G>C (p.Lys324Asn) c.1752G>C (p.Lys584Asn) c.1749G>C (p.Lys583Asn) |