| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.41883901_41883911delinsCTCAGCTGTGT | CA1360084018 | ULK4 | c.1619_1629delinsACACAGCTGAG (p.His540=) c.1616_1626delinsACACAGCTGAG (p.His539=) c.1262_1272delinsACACAGCTGAG (p.His421=) c.830_840delinsACACAGCTGAG (p.His277=) c.479_489delinsACACAGCTGAG (p.His160=) n.2536_2546delinsACACAGCTGAG c.713_723delinsACACAGCTGAG (p.His238=) n.2022_2032delinsACACAGCTGAG n.1685_1695delinsACACAGCTGAG | |
| 3 | g.41883902_41883911del | CA1360084020 | ULK4 | c.1619_1628del (p.His540ArgfsTer15) c.1619_1628del (p.His540ArgfsTer20) c.1616_1625del (p.His539ArgfsTer15) c.1262_1271del (p.His421ArgfsTer15) c.830_839del (p.His277ArgfsTer15) c.479_488del (p.His160ArgfsTer15) n.2536_2545del c.713_722del (p.His238ArgfsTer15) n.2022_2031del n.1685_1694del | dbSNP |
| 3 | g.41883906C>A | CA352240443 | ULK4 | c.1624G>T (p.Ala542Ser) c.1621G>T (p.Ala541Ser) c.1267G>T (p.Ala423Ser) c.835G>T (p.Ala279Ser) c.484G>T (p.Ala162Ser) n.2541G>T c.718G>T (p.Ala240Ser) n.2027G>T n.1690G>T | gnomAD v3 gnomAD v4 |
| 3 | g.41883906C= | CA1360084023 | ULK4 | c.1624G= (p.Ala542=) c.1621G= (p.Ala541=) c.1267G= (p.Ala423=) c.835G= (p.Ala279=) c.484G= (p.Ala162=) n.2541G= c.718G= (p.Ala240=) n.2027G= n.1690G= | |
| 3 | g.41883906C>G | CA352240445 | ULK4 | c.1624G>C (p.Ala542Pro) c.1621G>C (p.Ala541Pro) c.1267G>C (p.Ala423Pro) c.835G>C (p.Ala279Pro) c.484G>C (p.Ala162Pro) n.2541G>C c.718G>C (p.Ala240Pro) n.2027G>C n.1690G>C | dbSNP gnomAD v4 |
| 3 | g.41883906C>T | CA2332234 | ULK4 | c.1624G>A (p.Ala542Thr) c.1621G>A (p.Ala541Thr) c.1267G>A (p.Ala423Thr) c.835G>A (p.Ala279Thr) c.484G>A (p.Ala162Thr) n.2541G>A c.718G>A (p.Ala240Thr) n.2027G>A n.1690G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.41883907T>A | CA2332235 | ULK4 | c.1623A>T (p.Thr541=) c.1620A>T (p.Thr540=) c.1266A>T (p.Thr422=) c.834A>T (p.Thr278=) c.483A>T (p.Thr161=) n.2540A>T c.717A>T (p.Thr239=) n.2026A>T n.1689A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.41883907T>C | CA433190815 | ULK4 | c.1623A>G (p.Thr541=) c.1620A>G (p.Thr540=) c.1266A>G (p.Thr422=) c.834A>G (p.Thr278=) c.483A>G (p.Thr161=) n.2540A>G c.717A>G (p.Thr239=) n.2026A>G n.1689A>G | |
| 3 | g.41883907T>G | CA433190816 | ULK4 | c.1623A>C (p.Thr541=) c.1620A>C (p.Thr540=) c.1266A>C (p.Thr422=) c.834A>C (p.Thr278=) c.483A>C (p.Thr161=) n.2540A>C c.717A>C (p.Thr239=) n.2026A>C n.1689A>C | |
| 3 | g.41883907T= | CA1360084024 | ULK4 | c.1623A= (p.Thr541=) c.1620A= (p.Thr540=) c.1266A= (p.Thr422=) c.834A= (p.Thr278=) c.483A= (p.Thr161=) n.2540A= c.717A= (p.Thr239=) n.2026A= n.1689A= | |
| 3 | g.41883908G>A | CA2332236 | ULK4 | c.1622C>T (p.Thr541Ile) c.1619C>T (p.Thr540Ile) c.1265C>T (p.Thr422Ile) c.833C>T (p.Thr278Ile) c.482C>T (p.Thr161Ile) n.2539C>T c.716C>T (p.Thr239Ile) n.2025C>T n.1688C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.41883908G>C | CA352240449 | ULK4 | c.1622C>G (p.Thr541Arg) c.1619C>G (p.Thr540Arg) c.1265C>G (p.Thr422Arg) c.833C>G (p.Thr278Arg) c.482C>G (p.Thr161Arg) n.2539C>G c.716C>G (p.Thr239Arg) n.2025C>G n.1688C>G | dbSNP gnomAD v2 |
| 3 | g.41883908G= | CA1360084025 | ULK4 | c.1622C= (p.Thr541=) c.1619C= (p.Thr540=) c.1265C= (p.Thr422=) c.833C= (p.Thr278=) c.482C= (p.Thr161=) n.2539C= c.716C= (p.Thr239=) n.2025C= n.1688C= | |
| 3 | g.41883908G>T | CA352240451 | ULK4 | c.1622C>A (p.Thr541Lys) c.1619C>A (p.Thr540Lys) c.1265C>A (p.Thr422Lys) c.833C>A (p.Thr278Lys) c.482C>A (p.Thr161Lys) n.2539C>A c.716C>A (p.Thr239Lys) n.2025C>A n.1688C>A | dbSNP |
| 3 | g.41883909T>A | CA352240453 | ULK4 | c.1621A>T (p.Thr541Ser) c.1618A>T (p.Thr540Ser) c.1264A>T (p.Thr422Ser) c.832A>T (p.Thr278Ser) c.481A>T (p.Thr161Ser) n.2538A>T c.715A>T (p.Thr239Ser) n.2024A>T n.1687A>T | |
| 3 | g.41883909T>C | CA352240455 | ULK4 | c.1621A>G (p.Thr541Ala) c.1618A>G (p.Thr540Ala) c.1264A>G (p.Thr422Ala) c.832A>G (p.Thr278Ala) c.481A>G (p.Thr161Ala) n.2538A>G c.715A>G (p.Thr239Ala) n.2024A>G n.1687A>G | |
| 3 | g.41883909T>G | CA352240456 | ULK4 | c.1621A>C (p.Thr541Pro) c.1618A>C (p.Thr540Pro) c.1264A>C (p.Thr422Pro) c.832A>C (p.Thr278Pro) c.481A>C (p.Thr161Pro) n.2538A>C c.715A>C (p.Thr239Pro) n.2024A>C n.1687A>C | |
| 3 | g.41883910G>A | CA2332237 | ULK4 | c.1620C>T (p.His540=) c.1617C>T (p.His539=) c.1263C>T (p.His421=) c.831C>T (p.His277=) c.480C>T (p.His160=) n.2537C>T c.714C>T (p.His238=) n.2023C>T n.1686C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.41883910G>C | CA352240457 | ULK4 | c.1620C>G (p.His540Gln) c.1617C>G (p.His539Gln) c.1263C>G (p.His421Gln) c.831C>G (p.His277Gln) c.480C>G (p.His160Gln) n.2537C>G c.714C>G (p.His238Gln) n.2023C>G n.1686C>G | |
| 3 | g.41883910G= | CA1360084026 | ULK4 | c.1620C= (p.His540=) c.1617C= (p.His539=) c.1263C= (p.His421=) c.831C= (p.His277=) c.480C= (p.His160=) n.2537C= c.714C= (p.His238=) n.2023C= n.1686C= | |
| 3 | g.41883910G>T | CA352240458 | ULK4 | c.1620C>A (p.His540Gln) c.1617C>A (p.His539Gln) c.1263C>A (p.His421Gln) c.831C>A (p.His277Gln) c.480C>A (p.His160Gln) n.2537C>A c.714C>A (p.His238Gln) n.2023C>A n.1686C>A | gnomAD v4 |
| 3 | g.41883911T>A | CA352240464 | ULK4 | c.1619A>T (p.His540Leu) c.1616A>T (p.His539Leu) c.1262A>T (p.His421Leu) c.830A>T (p.His277Leu) c.479A>T (p.His160Leu) n.2536A>T c.713A>T (p.His238Leu) n.2022A>T n.1685A>T | |
| 3 | g.41883911T>C | CA352240466 | ULK4 | c.1619A>G (p.His540Arg) c.1616A>G (p.His539Arg) c.1262A>G (p.His421Arg) c.830A>G (p.His277Arg) c.479A>G (p.His160Arg) n.2536A>G c.713A>G (p.His238Arg) n.2022A>G n.1685A>G | dbSNP |
| 3 | g.41883911T>G | CA352240463 | ULK4 | c.1619A>C (p.His540Pro) c.1616A>C (p.His539Pro) c.1262A>C (p.His421Pro) c.830A>C (p.His277Pro) c.479A>C (p.His160Pro) n.2536A>C c.713A>C (p.His238Pro) n.2022A>C n.1685A>C | |
| 3 | g.41883911T= | CA1360084027 | ULK4 | c.1619A= (p.His540=) c.1616A= (p.His539=) c.1262A= (p.His421=) c.830A= (p.His277=) c.479A= (p.His160=) n.2536A= c.713A= (p.His238=) n.2022A= n.1685A= | |
| 3 | g.41883912G>A | CA352240468 | ULK4 | c.1618C>T (p.His540Tyr) c.1615C>T (p.His539Tyr) c.1261C>T (p.His421Tyr) c.829C>T (p.His277Tyr) c.478C>T (p.His160Tyr) n.2535C>T c.712C>T (p.His238Tyr) n.2021C>T n.1684C>T | |
| 3 | g.41883912G>C | CA352240470 | ULK4 | c.1618C>G (p.His540Asp) c.1615C>G (p.His539Asp) c.1261C>G (p.His421Asp) c.829C>G (p.His277Asp) c.478C>G (p.His160Asp) n.2535C>G c.712C>G (p.His238Asp) n.2021C>G n.1684C>G | |
| 3 | g.41883912G>T | CA352240471 | ULK4 | c.1618C>A (p.His540Asn) c.1615C>A (p.His539Asn) c.1261C>A (p.His421Asn) c.829C>A (p.His277Asn) c.478C>A (p.His160Asn) n.2535C>A c.712C>A (p.His238Asn) n.2021C>A n.1684C>A | gnomAD v4 |
| 3 | g.41883913C>A | CA433190817 | ULK4 | c.1617G>T (p.Ser539=) c.1614G>T (p.Ser538=) c.1260G>T (p.Ser420=) c.828G>T (p.Ser276=) c.477G>T (p.Ser159=) n.2534G>T c.711G>T (p.Ser237=) n.2020G>T n.1683G>T | gnomAD v4 |
| 3 | g.41883913C= | CA1360084028 | ULK4 | c.1617G= (p.Ser539=) c.1614G= (p.Ser538=) c.1260G= (p.Ser420=) c.828G= (p.Ser276=) c.477G= (p.Ser159=) n.2534G= c.711G= (p.Ser237=) n.2020G= n.1683G= | |
| 3 | g.41883913C>G | CA433190818 | ULK4 | c.1617G>C (p.Ser539=) c.1614G>C (p.Ser538=) c.1260G>C (p.Ser420=) c.828G>C (p.Ser276=) c.477G>C (p.Ser159=) n.2534G>C c.711G>C (p.Ser237=) n.2020G>C n.1683G>C | |
| 3 | g.41883913C>T | CA2332238 | ULK4 | c.1617G>A (p.Ser539=) c.1614G>A (p.Ser538=) c.1260G>A (p.Ser420=) c.828G>A (p.Ser276=) c.477G>A (p.Ser159=) n.2534G>A c.711G>A (p.Ser237=) n.2020G>A n.1683G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.41883914G>A | CA2332239 | ULK4 | c.1616C>T (p.Ser539Leu) c.1613C>T (p.Ser538Leu) c.1259C>T (p.Ser420Leu) c.827C>T (p.Ser276Leu) c.476C>T (p.Ser159Leu) n.2533C>T c.710C>T (p.Ser237Leu) n.2019C>T n.1682C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.41883914G>C | CA2332240 | ULK4 | c.1616C>G (p.Ser539Trp) c.1613C>G (p.Ser538Trp) c.1259C>G (p.Ser420Trp) c.827C>G (p.Ser276Trp) c.476C>G (p.Ser159Trp) n.2533C>G c.710C>G (p.Ser237Trp) n.2019C>G n.1682C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.41883914G= | CA1360084029 | ULK4 | c.1616C= (p.Ser539=) c.1613C= (p.Ser538=) c.1259C= (p.Ser420=) c.827C= (p.Ser276=) c.476C= (p.Ser159=) n.2533C= c.710C= (p.Ser237=) n.2019C= n.1682C= | |
| 3 | g.41883914G>T | CA352240476 | ULK4 | c.1616C>A (p.Ser539Ter) c.1613C>A (p.Ser538Ter) c.1259C>A (p.Ser420Ter) c.827C>A (p.Ser276Ter) c.476C>A (p.Ser159Ter) n.2533C>A c.710C>A (p.Ser237Ter) n.2019C>A n.1682C>A | |
| 3 | g.41883914_41883915delinsGA | CA1360084030 | ULK4 | c.1615_1616delinsTC (p.Ser539=) c.1612_1613delinsTC (p.Ser538=) c.1258_1259delinsTC (p.Ser420=) c.826_827delinsTC (p.Ser276=) c.475_476delinsTC (p.Ser159=) n.2532_2533delinsTC c.709_710delinsTC (p.Ser237=) n.2018_2019delinsTC n.1681_1682delinsTC | |
| 3 | g.41883914_41883933delinsGAAGCCAGTAAACCAATTAC | CA1360084031 | ULK4 | c.1597_1616delinsGTAATTGGTTTACTGGCTTC (p.Val533=) c.1594_1613delinsGTAATTGGTTTACTGGCTTC (p.Val532=) c.1240_1259delinsGTAATTGGTTTACTGGCTTC (p.Val414=) c.808_827delinsGTAATTGGTTTACTGGCTTC (p.Val270=) c.457_476delinsGTAATTGGTTTACTGGCTTC (p.Val153=) n.2514_2533delinsGTAATTGGTTTACTGGCTTC c.691_710delinsGTAATTGGTTTACTGGCTTC (p.Val231=) n.2000_2019delinsGTAATTGGTTTACTGGCTTC n.1663_1682delinsGTAATTGGTTTACTGGCTTC | |
| 3 | g.41883915A>C | CA352240478 | ULK4 | c.1615T>G (p.Ser539Ala) c.1612T>G (p.Ser538Ala) c.1258T>G (p.Ser420Ala) c.826T>G (p.Ser276Ala) c.475T>G (p.Ser159Ala) n.2532T>G c.709T>G (p.Ser237Ala) n.2018T>G n.1681T>G | |
| 3 | g.41883915A>G | CA352240480 | ULK4 | c.1615T>C (p.Ser539Pro) c.1612T>C (p.Ser538Pro) c.1258T>C (p.Ser420Pro) c.826T>C (p.Ser276Pro) c.475T>C (p.Ser159Pro) n.2532T>C c.709T>C (p.Ser237Pro) n.2018T>C n.1681T>C | |
| 3 | g.41883915A>T | CA352240481 | ULK4 | c.1615T>A (p.Ser539Thr) c.1612T>A (p.Ser538Thr) c.1258T>A (p.Ser420Thr) c.826T>A (p.Ser276Thr) c.475T>A (p.Ser159Thr) n.2532T>A c.709T>A (p.Ser237Thr) n.2018T>A n.1681T>A | |
| 3 | g.41883916del | CA542327345 | ULK4 | c.1615del (p.Ser539ArgfsTer19) c.1615del (p.Ser539ArgfsTer24) c.1612del (p.Ser538ArgfsTer19) c.1258del (p.Ser420ArgfsTer19) c.826del (p.Ser276ArgfsTer19) c.475del (p.Ser159ArgfsTer19) n.2532del c.709del (p.Ser237ArgfsTer19) n.2018del n.1681del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.41883915_41883933del | CA1360084032 | ULK4 | c.1597_1615del (p.Val533ArgfsTer19) c.1597_1615del (p.Val533ArgfsTer24) c.1594_1612del (p.Val532ArgfsTer19) c.1240_1258del (p.Val414ArgfsTer19) c.808_826del (p.Val270ArgfsTer19) c.457_475del (p.Val153ArgfsTer19) n.2514_2532del c.691_709del (p.Val231ArgfsTer19) n.2000_2018del n.1663_1681del | dbSNP |
| 3 | g.41883916A>C | CA433190819 | ULK4 | c.1614T>G (p.Ala538=) c.1611T>G (p.Ala537=) c.1257T>G (p.Ala419=) c.825T>G (p.Ala275=) c.474T>G (p.Ala158=) n.2531T>G c.708T>G (p.Ala236=) n.2017T>G n.1680T>G | |
| 3 | g.41883916A>G | CA433190820 | ULK4 | c.1614T>C (p.Ala538=) c.1611T>C (p.Ala537=) c.1257T>C (p.Ala419=) c.825T>C (p.Ala275=) c.474T>C (p.Ala158=) n.2531T>C c.708T>C (p.Ala236=) n.2017T>C n.1680T>C | |
| 3 | g.41883916A>T | CA433190821 | ULK4 | c.1614T>A (p.Ala538=) c.1611T>A (p.Ala537=) c.1257T>A (p.Ala419=) c.825T>A (p.Ala275=) c.474T>A (p.Ala158=) n.2531T>A c.708T>A (p.Ala236=) n.2017T>A n.1680T>A | |
| 3 | g.41883917G>A | CA352240483 | ULK4 | c.1613C>T (p.Ala538Val) c.1610C>T (p.Ala537Val) c.1256C>T (p.Ala419Val) c.824C>T (p.Ala275Val) c.473C>T (p.Ala158Val) n.2530C>T c.707C>T (p.Ala236Val) n.2016C>T n.1679C>T | |
| 3 | g.41883917G>C | CA352240485 | ULK4 | c.1613C>G (p.Ala538Gly) c.1610C>G (p.Ala537Gly) c.1256C>G (p.Ala419Gly) c.824C>G (p.Ala275Gly) c.473C>G (p.Ala158Gly) n.2530C>G c.707C>G (p.Ala236Gly) n.2016C>G n.1679C>G | gnomAD v4 |
| 3 | g.41883917G>T | CA352240486 | ULK4 | c.1613C>A (p.Ala538Asp) c.1610C>A (p.Ala537Asp) c.1256C>A (p.Ala419Asp) c.824C>A (p.Ala275Asp) c.473C>A (p.Ala158Asp) n.2530C>A c.707C>A (p.Ala236Asp) n.2016C>A n.1679C>A | gnomAD v4 |
| 3 | g.41883918C>A | CA352240491 | ULK4 | c.1612G>T (p.Ala538Ser) c.1609G>T (p.Ala537Ser) c.1255G>T (p.Ala419Ser) c.823G>T (p.Ala275Ser) c.472G>T (p.Ala158Ser) n.2529G>T c.706G>T (p.Ala236Ser) n.2015G>T n.1678G>T | gnomAD v4 |