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.112016765_112016778delinsCTTACGCCCTTCAT | CA2000524064 | DIXDC1 | c.1831_1844delinsCTTACGCCCTTCAT (p.Leu611=) n.827_840delinsCTTACGCCCTTCAT c.1198_1211delinsCTTACGCCCTTCAT (p.Leu400=) n.1184_1197delinsCTTACGCCCTTCAT c.1828_1841delinsCTTACGCCCTTCAT (p.Leu610=) c.949_962delinsCTTACGCCCTTCAT (p.Leu317=) c.943_956delinsCTTACGCCCTTCAT (p.Leu315=) c.1723_1736delinsCTTACGCCCTTCAT (p.Leu575=) c.1720_1733delinsCTTACGCCCTTCAT (p.Leu574=) | |
| 11 | g.112016766_112016778del | CA6276428 | DIXDC1 | c.1832_1844del (p.Leu611ArgfsTer11) n.828_840del c.1199_1211del (p.Leu400ArgfsTer11) n.1185_1197del c.1829_1841del (p.Leu610ArgfsTer11) c.950_962del (p.Leu317ArgfsTer11) c.944_956del (p.Leu315ArgfsTer11) c.1724_1736del (p.Leu575ArgfsTer11) c.1721_1733del (p.Leu574ArgfsTer11) | dbSNP ExAC gnomAD v2 |
| 11 | g.112016776C>A | CA382590415 | DIXDC1 | c.1842C>A (p.Phe614Leu) n.838C>A c.1209C>A (p.Phe403Leu) n.1195C>A c.1839C>A (p.Phe613Leu) c.960C>A (p.Phe320Leu) c.954C>A (p.Phe318Leu) c.1734C>A (p.Phe578Leu) c.1731C>A (p.Phe577Leu) | |
| 11 | g.112016776C>G | CA382590417 | DIXDC1 | c.1842C>G (p.Phe614Leu) n.838C>G c.1209C>G (p.Phe403Leu) n.1195C>G c.1839C>G (p.Phe613Leu) c.960C>G (p.Phe320Leu) c.954C>G (p.Phe318Leu) c.1734C>G (p.Phe578Leu) c.1731C>G (p.Phe577Leu) | |
| 11 | g.112016776C>T | CA476785621 | DIXDC1 | c.1842C>T (p.Phe614=) n.838C>T c.1209C>T (p.Phe403=) n.1195C>T c.1839C>T (p.Phe613=) c.960C>T (p.Phe320=) c.954C>T (p.Phe318=) c.1734C>T (p.Phe578=) c.1731C>T (p.Phe577=) | |
| 11 | g.112016777A= | CA2000524068 | DIXDC1 | c.1843A= (p.Met615=) n.839A= c.1210A= (p.Met404=) n.1196A= c.1840A= (p.Met614=) c.961A= (p.Met321=) c.955A= (p.Met319=) c.1735A= (p.Met579=) c.1732A= (p.Met578=) | |
| 11 | g.112016777A>C | CA382590420 | DIXDC1 | c.1843A>C (p.Met615Leu) n.839A>C c.1210A>C (p.Met404Leu) n.1196A>C c.1840A>C (p.Met614Leu) c.961A>C (p.Met321Leu) c.955A>C (p.Met319Leu) c.1735A>C (p.Met579Leu) c.1732A>C (p.Met578Leu) | |
| 11 | g.112016777A>G | CA6276430 | DIXDC1 | c.1843A>G (p.Met615Val) n.839A>G c.1210A>G (p.Met404Val) n.1196A>G c.1840A>G (p.Met614Val) c.961A>G (p.Met321Val) c.955A>G (p.Met319Val) c.1735A>G (p.Met579Val) c.1732A>G (p.Met578Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112016777A>T | CA382590424 | DIXDC1 | c.1843A>T (p.Met615Leu) n.839A>T c.1210A>T (p.Met404Leu) n.1196A>T c.1840A>T (p.Met614Leu) c.961A>T (p.Met321Leu) c.955A>T (p.Met319Leu) c.1735A>T (p.Met579Leu) c.1732A>T (p.Met578Leu) | |
| 11 | g.112016778T>A | CA382590429 | DIXDC1 | c.1844T>A (p.Met615Lys) n.840T>A c.1211T>A (p.Met404Lys) n.1197T>A c.1841T>A (p.Met614Lys) c.962T>A (p.Met321Lys) c.956T>A (p.Met319Lys) c.1736T>A (p.Met579Lys) c.1733T>A (p.Met578Lys) | gnomAD v4 |
| 11 | g.112016778T>C | CA382590427 | DIXDC1 | c.1844T>C (p.Met615Thr) n.840T>C c.1211T>C (p.Met404Thr) n.1197T>C c.1841T>C (p.Met614Thr) c.962T>C (p.Met321Thr) c.956T>C (p.Met319Thr) c.1736T>C (p.Met579Thr) c.1733T>C (p.Met578Thr) | gnomAD v4 |
| 11 | g.112016778T>G | CA382590426 | DIXDC1 | c.1844T>G (p.Met615Arg) n.840T>G c.1211T>G (p.Met404Arg) n.1197T>G c.1841T>G (p.Met614Arg) c.962T>G (p.Met321Arg) c.956T>G (p.Met319Arg) c.1736T>G (p.Met579Arg) c.1733T>G (p.Met578Arg) | |
| 11 | g.112016779G>A | CA382590431 | DIXDC1 | c.1845G>A (p.Met615Ile) n.841G>A c.1212G>A (p.Met404Ile) n.1198G>A c.1842G>A (p.Met614Ile) c.963G>A (p.Met321Ile) c.957G>A (p.Met319Ile) c.1737G>A (p.Met579Ile) c.1734G>A (p.Met578Ile) | |
| 11 | g.112016779G>C | CA382590436 | DIXDC1 | c.1845G>C (p.Met615Ile) n.841G>C c.1212G>C (p.Met404Ile) n.1198G>C c.1842G>C (p.Met614Ile) c.963G>C (p.Met321Ile) c.957G>C (p.Met319Ile) c.1737G>C (p.Met579Ile) c.1734G>C (p.Met578Ile) | |
| 11 | g.112016779G>T | CA382590434 | DIXDC1 | c.1845G>T (p.Met615Ile) n.841G>T c.1212G>T (p.Met404Ile) n.1198G>T c.1842G>T (p.Met614Ile) c.963G>T (p.Met321Ile) c.957G>T (p.Met319Ile) c.1737G>T (p.Met579Ile) c.1734G>T (p.Met578Ile) | gnomAD v4 |
| 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) |