| 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.112016769C>A | CA382590382 | DIXDC1 | c.1835C>A (p.Thr612Lys) n.831C>A c.1202C>A (p.Thr401Lys) n.1188C>A c.1832C>A (p.Thr611Lys) c.953C>A (p.Thr318Lys) c.947C>A (p.Thr316Lys) c.1727C>A (p.Thr576Lys) c.1724C>A (p.Thr575Lys) | gnomAD v4 |
| 11 | g.112016769C= | CA2000524066 | DIXDC1 | c.1835C= (p.Thr612=) n.831C= c.1202C= (p.Thr401=) n.1188C= c.1832C= (p.Thr611=) c.953C= (p.Thr318=) c.947C= (p.Thr316=) c.1727C= (p.Thr576=) c.1724C= (p.Thr575=) | |
| 11 | g.112016769C>G | CA382590383 | DIXDC1 | c.1835C>G (p.Thr612Arg) n.831C>G c.1202C>G (p.Thr401Arg) n.1188C>G c.1832C>G (p.Thr611Arg) c.953C>G (p.Thr318Arg) c.947C>G (p.Thr316Arg) c.1727C>G (p.Thr576Arg) c.1724C>G (p.Thr575Arg) | gnomAD v4 |
| 11 | g.112016769C>T | CA6276429 | DIXDC1 | c.1835C>T (p.Thr612Met) n.831C>T c.1202C>T (p.Thr401Met) n.1188C>T c.1832C>T (p.Thr611Met) c.953C>T (p.Thr318Met) c.947C>T (p.Thr316Met) c.1727C>T (p.Thr576Met) c.1724C>T (p.Thr575Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112016770G>A | CA476785613 | DIXDC1 | c.1836G>A (p.Thr612=) n.832G>A c.1203G>A (p.Thr401=) n.1189G>A c.1833G>A (p.Thr611=) c.954G>A (p.Thr318=) c.948G>A (p.Thr316=) c.1728G>A (p.Thr576=) c.1725G>A (p.Thr575=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.112016770G>C | CA476785614 | DIXDC1 | c.1836G>C (p.Thr612=) n.832G>C c.1203G>C (p.Thr401=) n.1189G>C c.1833G>C (p.Thr611=) c.954G>C (p.Thr318=) c.948G>C (p.Thr316=) c.1728G>C (p.Thr576=) c.1725G>C (p.Thr575=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112016770G= | CA2000524067 | DIXDC1 | c.1836G= (p.Thr612=) n.832G= c.1203G= (p.Thr401=) n.1189G= c.1833G= (p.Thr611=) c.954G= (p.Thr318=) c.948G= (p.Thr316=) c.1728G= (p.Thr576=) c.1725G= (p.Thr575=) | |
| 11 | g.112016770G>T | CA476785615 | DIXDC1 | c.1836G>T (p.Thr612=) n.832G>T c.1203G>T (p.Thr401=) n.1189G>T c.1833G>T (p.Thr611=) c.954G>T (p.Thr318=) c.948G>T (p.Thr316=) c.1728G>T (p.Thr576=) c.1725G>T (p.Thr575=) | |
| 11 | g.112016771C>A | CA382590386 | DIXDC1 | c.1837C>A (p.Pro613Thr) n.833C>A c.1204C>A (p.Pro402Thr) n.1190C>A c.1834C>A (p.Pro612Thr) c.955C>A (p.Pro319Thr) c.949C>A (p.Pro317Thr) c.1729C>A (p.Pro577Thr) c.1726C>A (p.Pro576Thr) | |
| 11 | g.112016771C>G | CA382590388 | DIXDC1 | c.1837C>G (p.Pro613Ala) n.833C>G c.1204C>G (p.Pro402Ala) n.1190C>G c.1834C>G (p.Pro612Ala) c.955C>G (p.Pro319Ala) c.949C>G (p.Pro317Ala) c.1729C>G (p.Pro577Ala) c.1726C>G (p.Pro576Ala) | |
| 11 | g.112016771C>T | CA382590390 | DIXDC1 | c.1837C>T (p.Pro613Ser) n.833C>T c.1204C>T (p.Pro402Ser) n.1190C>T c.1834C>T (p.Pro612Ser) c.955C>T (p.Pro319Ser) c.949C>T (p.Pro317Ser) c.1729C>T (p.Pro577Ser) c.1726C>T (p.Pro576Ser) | |
| 11 | g.112016772C>A | CA382590397 | DIXDC1 | c.1838C>A (p.Pro613His) n.834C>A c.1205C>A (p.Pro402His) n.1191C>A c.1835C>A (p.Pro612His) c.956C>A (p.Pro319His) c.950C>A (p.Pro317His) c.1730C>A (p.Pro577His) c.1727C>A (p.Pro576His) | |
| 11 | g.112016772C>G | CA382590393 | DIXDC1 | c.1838C>G (p.Pro613Arg) n.834C>G c.1205C>G (p.Pro402Arg) n.1191C>G c.1835C>G (p.Pro612Arg) c.956C>G (p.Pro319Arg) c.950C>G (p.Pro317Arg) c.1730C>G (p.Pro577Arg) c.1727C>G (p.Pro576Arg) | COSMIC |
| 11 | g.112016772C>T | CA382590395 | DIXDC1 | c.1838C>T (p.Pro613Leu) n.834C>T c.1205C>T (p.Pro402Leu) n.1191C>T c.1835C>T (p.Pro612Leu) c.956C>T (p.Pro319Leu) c.950C>T (p.Pro317Leu) c.1730C>T (p.Pro577Leu) c.1727C>T (p.Pro576Leu) | |
| 11 | g.112016773C>A | CA476785619 | DIXDC1 | c.1839C>A (p.Pro613=) n.835C>A c.1206C>A (p.Pro402=) n.1192C>A c.1836C>A (p.Pro612=) c.957C>A (p.Pro319=) c.951C>A (p.Pro317=) c.1731C>A (p.Pro577=) c.1728C>A (p.Pro576=) | gnomAD v4 |
| 11 | g.112016773C>G | CA476785616 | DIXDC1 | c.1839C>G (p.Pro613=) n.835C>G c.1206C>G (p.Pro402=) n.1192C>G c.1836C>G (p.Pro612=) c.957C>G (p.Pro319=) c.951C>G (p.Pro317=) c.1731C>G (p.Pro577=) c.1728C>G (p.Pro576=) | |
| 11 | g.112016773C>T | CA476785617 | DIXDC1 | c.1839C>T (p.Pro613=) n.835C>T c.1206C>T (p.Pro402=) n.1192C>T c.1836C>T (p.Pro612=) c.957C>T (p.Pro319=) c.951C>T (p.Pro317=) c.1731C>T (p.Pro577=) c.1728C>T (p.Pro576=) | |
| 11 | g.112016774T>A | CA382590399 | DIXDC1 | c.1840T>A (p.Phe614Ile) n.836T>A c.1207T>A (p.Phe403Ile) n.1193T>A c.1837T>A (p.Phe613Ile) c.958T>A (p.Phe320Ile) c.952T>A (p.Phe318Ile) c.1732T>A (p.Phe578Ile) c.1729T>A (p.Phe577Ile) | |
| 11 | g.112016774T>C | CA382590401 | DIXDC1 | c.1840T>C (p.Phe614Leu) n.836T>C c.1207T>C (p.Phe403Leu) n.1193T>C c.1837T>C (p.Phe613Leu) c.958T>C (p.Phe320Leu) c.952T>C (p.Phe318Leu) c.1732T>C (p.Phe578Leu) c.1729T>C (p.Phe577Leu) | |
| 11 | g.112016774T>G | CA382590403 | DIXDC1 | c.1840T>G (p.Phe614Val) n.836T>G c.1207T>G (p.Phe403Val) n.1193T>G c.1837T>G (p.Phe613Val) c.958T>G (p.Phe320Val) c.952T>G (p.Phe318Val) c.1732T>G (p.Phe578Val) c.1729T>G (p.Phe577Val) | |
| 11 | g.112016775T>A | CA382590406 | DIXDC1 | c.1841T>A (p.Phe614Tyr) n.837T>A c.1208T>A (p.Phe403Tyr) n.1194T>A c.1838T>A (p.Phe613Tyr) c.959T>A (p.Phe320Tyr) c.953T>A (p.Phe318Tyr) c.1733T>A (p.Phe578Tyr) c.1730T>A (p.Phe577Tyr) | gnomAD v4 |
| 11 | g.112016775T>C | CA382590408 | DIXDC1 | c.1841T>C (p.Phe614Ser) n.837T>C c.1208T>C (p.Phe403Ser) n.1194T>C c.1838T>C (p.Phe613Ser) c.959T>C (p.Phe320Ser) c.953T>C (p.Phe318Ser) c.1733T>C (p.Phe578Ser) c.1730T>C (p.Phe577Ser) | |
| 11 | g.112016775T>G | CA382590411 | DIXDC1 | c.1841T>G (p.Phe614Cys) n.837T>G c.1208T>G (p.Phe403Cys) n.1194T>G c.1838T>G (p.Phe613Cys) c.959T>G (p.Phe320Cys) c.953T>G (p.Phe318Cys) c.1733T>G (p.Phe578Cys) c.1730T>G (p.Phe577Cys) | |
| 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 |