| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47206103C>A | CA412802193 | UBA1 | c.1731C>A (p.Asn577Lys) n.490C>A c.1749C>A (p.Asn583Lys) c.1815C>A (p.Asn605Lys) c.1773C>A (p.Asn591Lys) n.216-753G>T c.1884C>A (p.Asn628Lys) n.284-753G>T | gnomAD v4 |
| X | g.47206103C= | CA2427845527 | UBA1 | c.1731C= (p.Asn577=) n.490C= c.1749C= (p.Asn583=) c.1815C= (p.Asn605=) c.1773C= (p.Asn591=) n.216-753G= c.1884C= (p.Asn628=) n.284-753G= | |
| X | g.47206103C>G | CA412802196 | UBA1 | c.1731C>G (p.Asn577Lys) n.490C>G c.1749C>G (p.Asn583Lys) c.1815C>G (p.Asn605Lys) c.1773C>G (p.Asn591Lys) n.216-753G>C c.1884C>G (p.Asn628Lys) n.284-753G>C | |
| X | g.47206103C>T | CA340955 | UBA1 | c.1731C>T (p.Asn577=) n.490C>T c.1749C>T (p.Asn583=) c.1815C>T (p.Asn605=) c.1773C>T (p.Asn591=) n.216-753G>A c.1884C>T (p.Asn628=) n.284-753G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.47206104G>A | CA412802203 | UBA1 | c.1732G>A (p.Val578Met) n.491G>A c.1750G>A (p.Val584Met) c.1816G>A (p.Val606Met) c.1774G>A (p.Val592Met) n.216-754C>T c.1885G>A (p.Val629Met) n.284-754C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47206104G>C | CA412802205 | UBA1 | c.1732G>C (p.Val578Leu) n.491G>C c.1750G>C (p.Val584Leu) c.1816G>C (p.Val606Leu) c.1774G>C (p.Val592Leu) n.216-754C>G c.1885G>C (p.Val629Leu) n.284-754C>G | gnomAD v4 |
| X | g.47206104G= | CA2427845528 | UBA1 | c.1732G= (p.Val578=) n.491G= c.1750G= (p.Val584=) c.1816G= (p.Val606=) c.1774G= (p.Val592=) n.216-754C= c.1885G= (p.Val629=) n.284-754C= | |
| X | g.47206104G>T | CA412802208 | UBA1 | c.1732G>T (p.Val578Leu) n.491G>T c.1750G>T (p.Val584Leu) c.1816G>T (p.Val606Leu) c.1774G>T (p.Val592Leu) n.216-754C>A c.1885G>T (p.Val629Leu) n.284-754C>A | |
| X | g.47206105T>A | CA412802211 | UBA1 | c.1733T>A (p.Val578Glu) n.492T>A c.1751T>A (p.Val584Glu) c.1817T>A (p.Val606Glu) c.1775T>A (p.Val592Glu) n.216-755A>T c.1886T>A (p.Val629Glu) n.284-755A>T | |
| X | g.47206105T>C | CA412802212 | UBA1 | c.1733T>C (p.Val578Ala) n.492T>C c.1751T>C (p.Val584Ala) c.1817T>C (p.Val606Ala) c.1775T>C (p.Val592Ala) n.216-755A>G c.1886T>C (p.Val629Ala) n.284-755A>G | gnomAD v4 |
| X | g.47206105T>G | CA412802214 | UBA1 | c.1733T>G (p.Val578Gly) n.492T>G c.1751T>G (p.Val584Gly) c.1817T>G (p.Val606Gly) c.1775T>G (p.Val592Gly) n.216-755A>C c.1886T>G (p.Val629Gly) n.284-755A>C | |
| X | g.47206106G>A | CA516351508 | UBA1 | c.1734G>A (p.Val578=) n.493G>A c.1752G>A (p.Val584=) c.1818G>A (p.Val606=) c.1776G>A (p.Val592=) n.216-756C>T c.1887G>A (p.Val629=) n.284-756C>T | |
| X | g.47206106G>C | CA516351510 | UBA1 | c.1734G>C (p.Val578=) n.493G>C c.1752G>C (p.Val584=) c.1818G>C (p.Val606=) c.1776G>C (p.Val592=) n.216-756C>G c.1887G>C (p.Val629=) n.284-756C>G | |
| X | g.47206106G>T | CA516351511 | UBA1 | c.1734G>T (p.Val578=) n.493G>T c.1752G>T (p.Val584=) c.1818G>T (p.Val606=) c.1776G>T (p.Val592=) n.216-756C>A c.1887G>T (p.Val629=) n.284-756C>A | gnomAD v4 |
| X | g.47206107G>A | CA412802217 | UBA1 | c.1735G>A (p.Asp579Asn) n.494G>A c.1753G>A (p.Asp585Asn) c.1819G>A (p.Asp607Asn) c.1777G>A (p.Asp593Asn) n.216-757C>T c.1888G>A (p.Asp630Asn) n.284-757C>T | |
| X | g.47206107G>C | CA412802220 | UBA1 | c.1735G>C (p.Asp579His) n.494G>C c.1753G>C (p.Asp585His) c.1819G>C (p.Asp607His) c.1777G>C (p.Asp593His) n.216-757C>G c.1888G>C (p.Asp630His) n.284-757C>G | |
| X | g.47206107G>T | CA412802223 | UBA1 | c.1735G>T (p.Asp579Tyr) n.494G>T c.1753G>T (p.Asp585Tyr) c.1819G>T (p.Asp607Tyr) c.1777G>T (p.Asp593Tyr) n.216-757C>A c.1888G>T (p.Asp630Tyr) n.284-757C>A | |
| X | g.47206108A>C | CA412802236 | UBA1 | c.1736A>C (p.Asp579Ala) n.495A>C c.1754A>C (p.Asp585Ala) c.1820A>C (p.Asp607Ala) c.1778A>C (p.Asp593Ala) n.216-758T>G c.1889A>C (p.Asp630Ala) n.284-758T>G | |
| X | g.47206108A>G | CA412802231 | UBA1 | c.1736A>G (p.Asp579Gly) n.495A>G c.1754A>G (p.Asp585Gly) c.1820A>G (p.Asp607Gly) c.1778A>G (p.Asp593Gly) n.216-758T>C c.1889A>G (p.Asp630Gly) n.284-758T>C | |
| X | g.47206108A>T | CA412802227 | UBA1 | c.1736A>T (p.Asp579Val) n.495A>T c.1754A>T (p.Asp585Val) c.1820A>T (p.Asp607Val) c.1778A>T (p.Asp593Val) n.216-758T>A c.1889A>T (p.Asp630Val) n.284-758T>A | |
| X | g.47206109T>A | CA412802239 | UBA1 | c.1737T>A (p.Asp579Glu) n.496T>A c.1755T>A (p.Asp585Glu) c.1821T>A (p.Asp607Glu) c.1779T>A (p.Asp593Glu) n.216-759A>T c.1890T>A (p.Asp630Glu) n.284-759A>T | |
| X | g.47206109T>C | CA516351526 | UBA1 | c.1737T>C (p.Asp579=) n.496T>C c.1755T>C (p.Asp585=) c.1821T>C (p.Asp607=) c.1779T>C (p.Asp593=) n.216-759A>G c.1890T>C (p.Asp630=) n.284-759A>G | |
| X | g.47206109T>G | CA412802242 | UBA1 | c.1737T>G (p.Asp579Glu) n.496T>G c.1755T>G (p.Asp585Glu) c.1821T>G (p.Asp607Glu) c.1779T>G (p.Asp593Glu) n.216-759A>C c.1890T>G (p.Asp630Glu) n.284-759A>C | |
| X | g.47206110G>A | CA412802247 | UBA1 | c.1738G>A (p.Ala580Thr) n.497G>A c.1756G>A (p.Ala586Thr) c.1822G>A (p.Ala608Thr) c.1780G>A (p.Ala594Thr) n.216-760C>T c.1891G>A (p.Ala631Thr) n.284-760C>T | |
| X | g.47206110G>C | CA412802249 | UBA1 | c.1738G>C (p.Ala580Pro) n.497G>C c.1756G>C (p.Ala586Pro) c.1822G>C (p.Ala608Pro) c.1780G>C (p.Ala594Pro) n.216-760C>G c.1891G>C (p.Ala631Pro) n.284-760C>G | |
| X | g.47206110G>T | CA412802253 | UBA1 | c.1738G>T (p.Ala580Ser) n.497G>T c.1756G>T (p.Ala586Ser) c.1822G>T (p.Ala608Ser) c.1780G>T (p.Ala594Ser) n.216-760C>A c.1891G>T (p.Ala631Ser) n.284-760C>A | |
| X | g.47206111C>A | CA412802256 | UBA1 | c.1739C>A (p.Ala580Asp) n.498C>A c.1757C>A (p.Ala586Asp) c.1823C>A (p.Ala608Asp) c.1781C>A (p.Ala594Asp) n.216-761G>T c.1892C>A (p.Ala631Asp) n.284-761G>T | |
| X | g.47206111C>G | CA412802262 | UBA1 | c.1739C>G (p.Ala580Gly) n.498C>G c.1757C>G (p.Ala586Gly) c.1823C>G (p.Ala608Gly) c.1781C>G (p.Ala594Gly) n.216-761G>C c.1892C>G (p.Ala631Gly) n.284-761G>C | |
| X | g.47206111C>T | CA412802267 | UBA1 | c.1739C>T (p.Ala580Val) n.498C>T c.1757C>T (p.Ala586Val) c.1823C>T (p.Ala608Val) c.1781C>T (p.Ala594Val) n.216-761G>A c.1892C>T (p.Ala631Val) n.284-761G>A | gnomAD v4 |
| X | g.47206112C>A | CA516351540 | UBA1 | c.1740C>A (p.Ala580=) n.499C>A c.1758C>A (p.Ala586=) c.1824C>A (p.Ala608=) c.1782C>A (p.Ala594=) n.216-762G>T c.1893C>A (p.Ala631=) n.284-762G>T | gnomAD v4 |
| X | g.47206112C>G | CA516351542 | UBA1 | c.1740C>G (p.Ala580=) n.499C>G c.1758C>G (p.Ala586=) c.1824C>G (p.Ala608=) c.1782C>G (p.Ala594=) n.216-762G>C c.1893C>G (p.Ala631=) n.284-762G>C | |
| X | g.47206112C>T | CA516351545 | UBA1 | c.1740C>T (p.Ala580=) n.499C>T c.1758C>T (p.Ala586=) c.1824C>T (p.Ala608=) c.1782C>T (p.Ala594=) n.216-762G>A c.1893C>T (p.Ala631=) n.284-762G>A | dbSNP gnomAD v4 |
| X | g.47206113C>A | CA412802272 | UBA1 | c.1741C>A (p.Arg581Ser) n.500C>A c.1759C>A (p.Arg587Ser) c.1825C>A (p.Arg609Ser) c.1783C>A (p.Arg595Ser) n.216-763G>T c.1894C>A (p.Arg632Ser) n.284-763G>T | dbSNP gnomAD v4 |
| X | g.47206113C= | CA2427845529 | UBA1 | c.1741C= (p.Arg581=) n.500C= c.1759C= (p.Arg587=) c.1825C= (p.Arg609=) c.1783C= (p.Arg595=) n.216-763G= c.1894C= (p.Arg632=) n.284-763G= | |
| X | g.47206113C>G | CA412802276 | UBA1 | c.1741C>G (p.Arg581Gly) n.500C>G c.1759C>G (p.Arg587Gly) c.1825C>G (p.Arg609Gly) c.1783C>G (p.Arg595Gly) n.216-763G>C c.1894C>G (p.Arg632Gly) n.284-763G>C | |
| X | g.47206113C>T | CA412802278 | UBA1 | c.1741C>T (p.Arg581Cys) n.500C>T c.1759C>T (p.Arg587Cys) c.1825C>T (p.Arg609Cys) c.1783C>T (p.Arg595Cys) n.216-763G>A c.1894C>T (p.Arg632Cys) n.284-763G>A | gnomAD v4 |
| X | g.47206114G>A | CA412802281 | UBA1 | c.1741+1G>A (n.1741+1G>A) n.500+1G>A c.1759+1G>A (n.1759+1G>A) c.1825+1G>A (n.1825+1G>A) c.1783+1G>A (n.1783+1G>A) n.216-764C>T c.1894+1G>A (n.1894+1G>A) n.284-764C>T | gnomAD v4 |
| X | g.47206114G>C | CA412802290 | UBA1 | c.1741+1G>C (n.1741+1G>C) n.500+1G>C c.1759+1G>C (n.1759+1G>C) c.1825+1G>C (n.1825+1G>C) c.1783+1G>C (n.1783+1G>C) n.216-764C>G c.1894+1G>C (n.1894+1G>C) n.284-764C>G | |
| X | g.47206114G>T | CA412802293 | UBA1 | c.1741+1G>T (n.1741+1G>T) n.500+1G>T c.1759+1G>T (n.1759+1G>T) c.1825+1G>T (n.1825+1G>T) c.1783+1G>T (n.1783+1G>T) n.216-764C>A c.1894+1G>T (n.1894+1G>T) n.284-764C>A | gnomAD v4 |
| X | g.47206114_47206115insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC | CA2738502663 | UBA1 | c.1741+1_1741+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1741+1_1741+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC) n.500+1_500+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC c.1759+1_1759+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1759+1_1759+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC) c.1825+1_1825+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1825+1_1825+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC) c.1783+1_1783+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1783+1_1783+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC) n.216-765_216-764insGCAGTGGCTTCCGGTAGTAGACACAGCGGCGGTCCATGTACATG c.1894+1_1894+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC (n.1894+1_1894+2insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGC) n.284-765_284-764insGCAGTGGCTTCCGGTAGTAGACACAGCGGCGGTCCATGTACATG | dbSNP |
| X | g.47206115T>A | CA412802306 | UBA1 | c.1741+2T>A (n.1741+2T>A) n.500+2T>A c.1759+2T>A (n.1759+2T>A) c.1825+2T>A (n.1825+2T>A) c.1783+2T>A (n.1783+2T>A) n.216-765A>T c.1894+2T>A (n.1894+2T>A) n.284-765A>T | |
| X | g.47206115T>C | CA412802300 | UBA1 | c.1741+2T>C (n.1741+2T>C) n.500+2T>C c.1759+2T>C (n.1759+2T>C) c.1825+2T>C (n.1825+2T>C) c.1783+2T>C (n.1783+2T>C) n.216-765A>G c.1894+2T>C (n.1894+2T>C) n.284-765A>G | gnomAD v4 |
| X | g.47206115T>G | CA412802302 | UBA1 | c.1741+2T>G (n.1741+2T>G) n.500+2T>G c.1759+2T>G (n.1759+2T>G) c.1825+2T>G (n.1825+2T>G) c.1783+2T>G (n.1783+2T>G) n.216-765A>C c.1894+2T>G (n.1894+2T>G) n.284-765A>C | gnomAD v4 |
| X | g.47206120T>C | CA2565431243 | UBA1 | c.1741+7T>C (n.1741+7T>C) n.500+7T>C c.1759+7T>C (n.1759+7T>C) c.1825+7T>C (n.1825+7T>C) c.1783+7T>C (n.1783+7T>C) n.216-770A>G c.1894+7T>C (n.1894+7T>C) n.284-770A>G | |
| X | g.47206122G>T | CA2693564279 | UBA1 | c.1741+9G>T (n.1741+9G>T) n.500+9G>T c.1759+9G>T (n.1759+9G>T) c.1825+9G>T (n.1825+9G>T) c.1783+9G>T (n.1783+9G>T) n.216-772C>A c.1894+9G>T (n.1894+9G>T) n.284-772C>A | gnomAD v4 |
| X | g.47206124A>G | CA2693564280 | UBA1 | c.1741+11A>G (n.1741+11A>G) n.500+11A>G c.1759+11A>G (n.1759+11A>G) c.1825+11A>G (n.1825+11A>G) c.1783+11A>G (n.1783+11A>G) n.216-774T>C c.1894+11A>G (n.1894+11A>G) n.284-774T>C | gnomAD v4 |
| X | g.47206125G>T | CA2693564281 | UBA1 | c.1741+12G>T (n.1741+12G>T) n.500+12G>T c.1759+12G>T (n.1759+12G>T) c.1825+12G>T (n.1825+12G>T) c.1783+12G>T (n.1783+12G>T) n.216-775C>A c.1894+12G>T (n.1894+12G>T) n.284-775C>A | gnomAD v4 |
| X | g.47206126G>C | CA2693564282 | UBA1 | c.1741+13G>C (n.1741+13G>C) n.500+13G>C c.1759+13G>C (n.1759+13G>C) c.1825+13G>C (n.1825+13G>C) c.1783+13G>C (n.1783+13G>C) n.216-776C>G c.1894+13G>C (n.1894+13G>C) n.284-776C>G | gnomAD v4 |
| X | g.47206127C>A | CA2693564283 | UBA1 | c.1741+14C>A (n.1741+14C>A) n.500+14C>A c.1759+14C>A (n.1759+14C>A) c.1825+14C>A (n.1825+14C>A) c.1783+14C>A (n.1783+14C>A) n.216-777G>T c.1894+14C>A (n.1894+14C>A) n.284-777G>T | gnomAD v4 |
| X | g.47206127C= | CA2427845530 | UBA1 | c.1741+14C= (n.1741+14C=) n.500+14C= c.1759+14C= (n.1759+14C=) c.1825+14C= (n.1825+14C=) c.1783+14C= (n.1783+14C=) n.216-777G= c.1894+14C= (n.1894+14C=) n.284-777G= |