Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47206103C>ACA412802193UBA1c.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
Xg.47206103C=CA2427845527UBA1c.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=
Xg.47206103C>GCA412802196UBA1c.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
Xg.47206103C>TCA340955UBA1c.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
Xg.47206104G>ACA412802203UBA1c.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
Xg.47206104G>CCA412802205UBA1c.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
Xg.47206104G=CA2427845528UBA1c.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=
Xg.47206104G>TCA412802208UBA1c.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
Xg.47206105T>ACA412802211UBA1c.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
Xg.47206105T>CCA412802212UBA1c.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
Xg.47206105T>GCA412802214UBA1c.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
Xg.47206106G>ACA516351508UBA1c.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
Xg.47206106G>CCA516351510UBA1c.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
Xg.47206106G>TCA516351511UBA1c.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
Xg.47206107G>ACA412802217UBA1c.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
Xg.47206107G>CCA412802220UBA1c.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
Xg.47206107G>TCA412802223UBA1c.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
Xg.47206108A>CCA412802236UBA1c.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
Xg.47206108A>GCA412802231UBA1c.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
Xg.47206108A>TCA412802227UBA1c.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
Xg.47206109T>ACA412802239UBA1c.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
Xg.47206109T>CCA516351526UBA1c.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
Xg.47206109T>GCA412802242UBA1c.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
Xg.47206110G>ACA412802247UBA1c.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
Xg.47206110G>CCA412802249UBA1c.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
Xg.47206110G>TCA412802253UBA1c.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
Xg.47206111C>ACA412802256UBA1c.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
Xg.47206111C>GCA412802262UBA1c.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
Xg.47206111C>TCA412802267UBA1c.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
Xg.47206112C>ACA516351540UBA1c.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
Xg.47206112C>GCA516351542UBA1c.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
Xg.47206112C>TCA516351545UBA1c.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
Xg.47206113C>ACA412802272UBA1c.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
Xg.47206113C=CA2427845529UBA1c.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=
Xg.47206113C>GCA412802276UBA1c.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
Xg.47206113C>TCA412802278UBA1c.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
Xg.47206114G>ACA412802281UBA1c.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
Xg.47206114G>CCA412802290UBA1c.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
Xg.47206114G>TCA412802293UBA1c.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
Xg.47206115_47206248delCA2820761683UBA1c.1741+2_1742del
n.500+2_501del
c.1759+2_1760del
c.1825+2_1826del
c.1783+2_1784del
n.216-897_216-764del
c.1894+2_1895del
n.284-897_284-764del
Xg.47206114_47206115insCATGTACATGGACCGCCGCCA2820761684UBA1c.1741+1_1741+2insCATGTACATGGACCGCCGC (n.1741+1_1741+2insCATGTACATGGACCGCCGC)
n.500+1_500+2insCATGTACATGGACCGCCGC
c.1759+1_1759+2insCATGTACATGGACCGCCGC (n.1759+1_1759+2insCATGTACATGGACCGCCGC)
c.1825+1_1825+2insCATGTACATGGACCGCCGC (n.1825+1_1825+2insCATGTACATGGACCGCCGC)
c.1783+1_1783+2insCATGTACATGGACCGCCGC (n.1783+1_1783+2insCATGTACATGGACCGCCGC)
n.216-765_216-764insGCGGCGGTCCATGTACATG
c.1894+1_1894+2insCATGTACATGGACCGCCGC (n.1894+1_1894+2insCATGTACATGGACCGCCGC)
n.284-765_284-764insGCGGCGGTCCATGTACATG
Xg.47206114_47206115insCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCCA2738502663UBA1c.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
Xg.47206115T>ACA412802306UBA1c.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
Xg.47206115T>CCA412802300UBA1c.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
Xg.47206115T>GCA412802302UBA1c.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
Xg.47206117A>TCA2820761685UBA1c.1741+4A>T (n.1741+4A>T)
n.500+4A>T
c.1759+4A>T (n.1759+4A>T)
c.1825+4A>T (n.1825+4A>T)
c.1783+4A>T (n.1783+4A>T)
n.216-767T>A
c.1894+4A>T (n.1894+4A>T)
n.284-767T>A
Xg.47206120T>CCA2565431243UBA1c.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
Xg.47206122G>TCA2693564279UBA1c.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
Xg.47206124A>GCA2693564280UBA1c.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
Xg.47206125G>TCA2693564281UBA1c.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

Number of alleles fetched