Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574082_47574194delCA2580101019SYN1c.1794_1906del (p.Thr601GlufsTer?)
c.70+498_70+610del (n.70+498_70+610del)
 ClinVar
Xg.47574120G>ACA412822323SYN1c.1864C>T (p.Arg622Trp)
c.70+568C>T (n.70+568C>T)
 ClinVar gnomAD v4
Xg.47574120G>CCA412822324SYN1c.1864C>G (p.Arg622Gly)
c.70+568C>G (n.70+568C>G)
Xg.47574120G>TCA516353354SYN1c.1864C>A (p.Arg622=)
c.70+568C>A (n.70+568C>A)
 gnomAD v4
Xg.47574121A>CCA516353358SYN1c.1863T>G (p.Pro621=)
c.70+567T>G (n.70+567T>G)
Xg.47574121A>GCA516353357SYN1c.1863T>C (p.Pro621=)
c.70+567T>C (n.70+567T>C)
 gnomAD v4
Xg.47574121A>TCA516353355SYN1c.1863T>A (p.Pro621=)
c.70+567T>A (n.70+567T>A)
Xg.47574122G>ACA412822326SYN1c.1862C>T (p.Pro621Leu)
c.70+566C>T (n.70+566C>T)
Xg.47574122G>CCA412822328SYN1c.1862C>G (p.Pro621Arg)
c.70+566C>G (n.70+566C>G)
Xg.47574122G>TCA412822329SYN1c.1862C>A (p.Pro621His)
c.70+566C>A (n.70+566C>A)
 gnomAD v4
Xg.47574123G>ACA412822331SYN1c.1861C>T (p.Pro621Ser)
c.70+565C>T (n.70+565C>T)
 gnomAD v4
Xg.47574123G>CCA412822332SYN1c.1861C>G (p.Pro621Ala)
c.70+565C>G (n.70+565C>G)
Xg.47574123G>TCA412822333SYN1c.1861C>A (p.Pro621Thr)
c.70+565C>A (n.70+565C>A)
 gnomAD v4
Xg.47574124C>ACA412822335SYN1c.1860G>T (p.Gln620His)
c.70+564G>T (n.70+564G>T)
 gnomAD v4
Xg.47574124C>GCA412822336SYN1c.1860G>C (p.Gln620His)
c.70+564G>C (n.70+564G>C)
Xg.47574124C>TCA516353362SYN1c.1860G>A (p.Gln620=)
c.70+564G>A (n.70+564G>A)
 gnomAD v4
Xg.47574125T>ACA412822338SYN1c.1859A>T (p.Gln620Leu)
c.70+563A>T (n.70+563A>T)
Xg.47574125T>CCA412822340SYN1c.1859A>G (p.Gln620Arg)
c.70+563A>G (n.70+563A>G)
Xg.47574125T>GCA412822342SYN1c.1859A>C (p.Gln620Pro)
c.70+563A>C (n.70+563A>C)
Xg.47574126G>ACA412822345SYN1c.1858C>T (p.Gln620Ter)
c.70+562C>T (n.70+562C>T)
 gnomAD v4
Xg.47574126G>CCA412822347SYN1c.1858C>G (p.Gln620Glu)
c.70+562C>G (n.70+562C>G)
Xg.47574126G>TCA412822343SYN1c.1858C>A (p.Gln620Lys)
c.70+562C>A (n.70+562C>A)
 gnomAD v4
Xg.47574127C>ACA412822348SYN1c.1857G>T (p.Gln619His)
c.70+561G>T (n.70+561G>T)
 gnomAD v4
Xg.47574127C>GCA412822349SYN1c.1857G>C (p.Gln619His)
c.70+561G>C (n.70+561G>C)
Xg.47574127C>TCA516353364SYN1c.1857G>A (p.Gln619=)
c.70+561G>A (n.70+561G>A)
 gnomAD v4
Xg.47574128T>ACA412822352SYN1c.1856A>T (p.Gln619Leu)
c.70+560A>T (n.70+560A>T)
 gnomAD v4
Xg.47574128T>CCA412822354SYN1c.1856A>G (p.Gln619Arg)
c.70+560A>G (n.70+560A>G)
 gnomAD v4
Xg.47574128T>GCA412822355SYN1c.1856A>C (p.Gln619Pro)
c.70+560A>C (n.70+560A>C)
Xg.47574129G>ACA412822360SYN1c.1855C>T (p.Gln619Ter)
c.70+559C>T (n.70+559C>T)
 gnomAD v4
Xg.47574129G>CCA412822359SYN1c.1855C>G (p.Gln619Glu)
c.70+559C>G (n.70+559C>G)
Xg.47574129G=CA2427971192SYN1c.1855C= (p.Gln619=)
c.70+559C= (n.70+559C=)
Xg.47574129G>TCA412822357SYN1c.1855C>A (p.Gln619Lys)
c.70+559C>A (n.70+559C>A)
 ClinVar dbSNP gnomAD v4
Xg.47574130C>ACA516353368SYN1c.1854G>T (p.Thr618=)
c.70+558G>T (n.70+558G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574130C=CA2427971193SYN1c.1854G= (p.Thr618=)
c.70+558G= (n.70+558G=)
Xg.47574130C>GCA516353369SYN1c.1854G>C (p.Thr618=)
c.70+558G>C (n.70+558G>C)
Xg.47574130C>TCA516353371SYN1c.1854G>A (p.Thr618=)
c.70+558G>A (n.70+558G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574131G>ACA412822362SYN1c.1853C>T (p.Thr618Met)
c.70+557C>T (n.70+557C>T)
 gnomAD v4
Xg.47574131G>CCA412822363SYN1c.1853C>G (p.Thr618Arg)
c.70+557C>G (n.70+557C>G)
Xg.47574131G>TCA412822365SYN1c.1853C>A (p.Thr618Lys)
c.70+557C>A (n.70+557C>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574132T>ACA412822367SYN1c.1852A>T (p.Thr618Ser)
c.70+556A>T (n.70+556A>T)
Xg.47574132T>CCA412822369SYN1c.1852A>G (p.Thr618Ala)
c.70+556A>G (n.70+556A>G)
 gnomAD v4
Xg.47574132T>GCA412822370SYN1c.1852A>C (p.Thr618Pro)
c.70+556A>C (n.70+556A>C)
Xg.47574133G>ACA516353374SYN1c.1851C>T (p.Thr617=)
c.70+555C>T (n.70+555C>T)
 gnomAD v4
Xg.47574133G>CCA516353376SYN1c.1851C>G (p.Thr617=)
c.70+555C>G (n.70+555C>G)
Xg.47574133G>TCA516353378SYN1c.1851C>A (p.Thr617=)
c.70+555C>A (n.70+555C>A)
 ClinVar dbSNP gnomAD v4
Xg.47574134G>ACA412822371SYN1c.1850C>T (p.Thr617Ile)
c.70+554C>T (n.70+554C>T)
 gnomAD v4
Xg.47574134G>CCA412822374SYN1c.1850C>G (p.Thr617Ser)
c.70+554C>G (n.70+554C>G)
 gnomAD v4
Xg.47574134G>TCA412822372SYN1c.1850C>A (p.Thr617Asn)
c.70+554C>A (n.70+554C>A)
Xg.47574135T>ACA412822375SYN1c.1849A>T (p.Thr617Ser)
c.70+553A>T (n.70+553A>T)
Xg.47574135T>CCA412822376SYN1c.1849A>G (p.Thr617Ala)
c.70+553A>G (n.70+553A>G)
 gnomAD v4
Xg.47574135T>GCA412822377SYN1c.1849A>C (p.Thr617Pro)
c.70+553A>C (n.70+553A>C)
Xg.47574136G>ACA516353379SYN1c.1848C>T (p.Pro616=)
c.70+552C>T (n.70+552C>T)
 gnomAD v4
Xg.47574136G>CCA516353381SYN1c.1848C>G (p.Pro616=)
c.70+552C>G (n.70+552C>G)
Xg.47574136G>TCA516353382SYN1c.1848C>A (p.Pro616=)
c.70+552C>A (n.70+552C>A)
 gnomAD v4
Xg.47574137G>ACA412822380SYN1c.1847C>T (p.Pro616Leu)
c.70+551C>T (n.70+551C>T)
Xg.47574137G>CCA412822381SYN1c.1847C>G (p.Pro616Arg)
c.70+551C>G (n.70+551C>G)
Xg.47574137G>TCA412822383SYN1c.1847C>A (p.Pro616His)
c.70+551C>A (n.70+551C>A)
 gnomAD v4
Xg.47574138G>ACA412822384SYN1c.1846C>T (p.Pro616Ser)
c.70+550C>T (n.70+550C>T)
 gnomAD v4
Xg.47574138G>CCA412822385SYN1c.1846C>G (p.Pro616Ala)
c.70+550C>G (n.70+550C>G)
Xg.47574138G>TCA412822386SYN1c.1846C>A (p.Pro616Thr)
c.70+550C>A (n.70+550C>A)
 gnomAD v4
Xg.47574139T>ACA516353386SYN1c.1845A>T (p.Pro615=)
c.70+549A>T (n.70+549A>T)
Xg.47574139T>CCA516353385SYN1c.1845A>G (p.Pro615=)
c.70+549A>G (n.70+549A>G)
 gnomAD v4
Xg.47574139T>GCA516353384SYN1c.1845A>C (p.Pro615=)
c.70+549A>C (n.70+549A>C)
Xg.47574140G>ACA412822388SYN1c.1844C>T (p.Pro615Leu)
c.70+548C>T (n.70+548C>T)
Xg.47574140G>CCA412822390SYN1c.1844C>G (p.Pro615Arg)
c.70+548C>G (n.70+548C>G)
Xg.47574140G>TCA412822391SYN1c.1844C>A (p.Pro615Gln)
c.70+548C>A (n.70+548C>A)
 gnomAD v4
Xg.47574141G>ACA412822393SYN1c.1843C>T (p.Pro615Ser)
c.70+547C>T (n.70+547C>T)
 gnomAD v4
Xg.47574141G>CCA412822396SYN1c.1843C>G (p.Pro615Ala)
c.70+547C>G (n.70+547C>G)
 gnomAD v4
Xg.47574141G>TCA412822394SYN1c.1843C>A (p.Pro615Thr)
c.70+547C>A (n.70+547C>A)
 gnomAD v4
Xg.47574142C>ACA516353388SYN1c.1842G>T (p.Gly614=)
c.70+546G>T (n.70+546G>T)
 gnomAD v4
Xg.47574142C>GCA516353389SYN1c.1842G>C (p.Gly614=)
c.70+546G>C (n.70+546G>C)
Xg.47574142C>TCA516353390SYN1c.1842G>A (p.Gly614=)
c.70+546G>A (n.70+546G>A)
 gnomAD v4
Xg.47574144delCA2551079782SYN1c.1842del (p.Pro615HisfsTer?)
c.70+546del (n.70+546del)
 gnomAD v4
Xg.47574143C>ACA412822398SYN1c.1841G>T (p.Gly614Val)
c.70+545G>T (n.70+545G>T)
 gnomAD v4
Xg.47574143C>GCA412822399SYN1c.1841G>C (p.Gly614Ala)
c.70+545G>C (n.70+545G>C)
 gnomAD v4
Xg.47574143C>TCA412822400SYN1c.1841G>A (p.Gly614Glu)
c.70+545G>A (n.70+545G>A)
Xg.47574144C>ACA412822402SYN1c.1840G>T (p.Gly614Trp)
c.70+544G>T (n.70+544G>T)
 gnomAD v4
Xg.47574144C>GCA412822404SYN1c.1840G>C (p.Gly614Arg)
c.70+544G>C (n.70+544G>C)
Xg.47574144C>TCA412822405SYN1c.1840G>A (p.Gly614Arg)
c.70+544G>A (n.70+544G>A)
 gnomAD v4
Xg.47574145A>CCA516353391SYN1c.1839T>G (p.Thr613=)
c.70+543T>G (n.70+543T>G)
Xg.47574145A>GCA516353392SYN1c.1839T>C (p.Thr613=)
c.70+543T>C (n.70+543T>C)
 gnomAD v4
Xg.47574145A>TCA516353393SYN1c.1839T>A (p.Thr613=)
c.70+543T>A (n.70+543T>A)
Xg.47574146G>ACA412822410SYN1c.1838C>T (p.Thr613Ile)
c.70+542C>T (n.70+542C>T)
 gnomAD v4
Xg.47574146G>CCA412822409SYN1c.1838C>G (p.Thr613Ser)
c.70+542C>G (n.70+542C>G)
Xg.47574146G>TCA412822407SYN1c.1838C>A (p.Thr613Asn)
c.70+542C>A (n.70+542C>A)
 gnomAD v4
Xg.47574147T>ACA412822412SYN1c.1837A>T (p.Thr613Ser)
c.70+541A>T (n.70+541A>T)
 gnomAD v4
Xg.47574147T>CCA412822413SYN1c.1837A>G (p.Thr613Ala)
c.70+541A>G (n.70+541A>G)
Xg.47574147T>GCA412822415SYN1c.1837A>C (p.Thr613Pro)
c.70+541A>C (n.70+541A>C)
 ClinVar dbSNP gnomAD v4
Xg.47574147T=CA2427971194SYN1c.1837A= (p.Thr613=)
c.70+541A= (n.70+541A=)
Xg.47574148G>ACA516353395SYN1c.1836C>T (p.Arg612=)
c.70+540C>T (n.70+540C>T)
Xg.47574148G>CCA516353396SYN1c.1836C>G (p.Arg612=)
c.70+540C>G (n.70+540C>G)
Xg.47574148G>TCA516353397SYN1c.1836C>A (p.Arg612=)
c.70+540C>A (n.70+540C>A)
 gnomAD v4
Xg.47574149delCA2693584756SYN1c.1835del (p.Arg612ProfsTer?)
c.70+539del (n.70+539del)
 gnomAD v4
Xg.47574149C>ACA412822417SYN1c.1835G>T (p.Arg612Leu)
c.70+539G>T (n.70+539G>T)
 gnomAD v4
Xg.47574149C=CA2427971195SYN1c.1835G= (p.Arg612=)
c.70+539G= (n.70+539G=)
Xg.47574149C>GCA412822418SYN1c.1835G>C (p.Arg612Pro)
c.70+539G>C (n.70+539G>C)
Xg.47574149C>TCA412822419SYN1c.1835G>A (p.Arg612His)
c.70+539G>A (n.70+539G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574150G>ACA412822420SYN1c.1834C>T (p.Arg612Cys)
c.70+538C>T (n.70+538C>T)
 gnomAD v4
Xg.47574150G>CCA412822424SYN1c.1834C>G (p.Arg612Gly)
c.70+538C>G (n.70+538C>G)
Xg.47574150G>TCA412822422SYN1c.1834C>A (p.Arg612Ser)
c.70+538C>A (n.70+538C>A)
 gnomAD v4
Xg.47574153delCA2693584768SYN1c.1834del (p.Arg612AlafsTer?)
c.70+538del (n.70+538del)
 gnomAD v4
Xg.47574151G>ACA516353398SYN1c.1833C>T (p.Pro611=)
c.70+537C>T (n.70+537C>T)
 gnomAD v4
Xg.47574151G>CCA516353401SYN1c.1833C>G (p.Pro611=)
c.70+537C>G (n.70+537C>G)
Xg.47574151G>TCA516353399SYN1c.1833C>A (p.Pro611=)
c.70+537C>A (n.70+537C>A)
 gnomAD v4
Xg.47574152G>ACA412822426SYN1c.1832C>T (p.Pro611Leu)
c.70+536C>T (n.70+536C>T)
 gnomAD v4
Xg.47574152G>CCA412822427SYN1c.1832C>G (p.Pro611Arg)
c.70+536C>G (n.70+536C>G)
Xg.47574152G>TCA412822428SYN1c.1832C>A (p.Pro611His)
c.70+536C>A (n.70+536C>A)
Xg.47574153G>ACA412822430SYN1c.1831C>T (p.Pro611Ser)
c.70+535C>T (n.70+535C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574153G>CCA412822432SYN1c.1831C>G (p.Pro611Ala)
c.70+535C>G (n.70+535C>G)
Xg.47574153G=CA2427971196SYN1c.1831C= (p.Pro611=)
c.70+535C= (n.70+535C=)
Xg.47574153G>TCA412822433SYN1c.1831C>A (p.Pro611Thr)
c.70+535C>A (n.70+535C>A)
 gnomAD v4
Xg.47574154C>ACA516353404SYN1c.1830G>T (p.Val610=)
c.70+534G>T (n.70+534G>T)
 gnomAD v4
Xg.47574154C>GCA516353405SYN1c.1830G>C (p.Val610=)
c.70+534G>C (n.70+534G>C)
Xg.47574154C>TCA516353406SYN1c.1830G>A (p.Val610=)
c.70+534G>A (n.70+534G>A)
 gnomAD v4
Xg.47574155A>CCA412822434SYN1c.1829T>G (p.Val610Gly)
c.70+533T>G (n.70+533T>G)
Xg.47574155A>GCA412822435SYN1c.1829T>C (p.Val610Ala)
c.70+533T>C (n.70+533T>C)
Xg.47574155A>TCA412822436SYN1c.1829T>A (p.Val610Glu)
c.70+533T>A (n.70+533T>A)
Xg.47574156C>ACA412822437SYN1c.1828G>T (p.Val610Leu)
c.70+532G>T (n.70+532G>T)
 gnomAD v4
Xg.47574156C>GCA412822439SYN1c.1828G>C (p.Val610Leu)
c.70+532G>C (n.70+532G>C)
Xg.47574156C>TCA412822441SYN1c.1828G>A (p.Val610Met)
c.70+532G>A (n.70+532G>A)
 gnomAD v4
Xg.47574157G>ACA516353408SYN1c.1827C>T (p.Pro609=)
c.70+531C>T (n.70+531C>T)
 gnomAD v4
Xg.47574157G>CCA516353409SYN1c.1827C>G (p.Pro609=)
c.70+531C>G (n.70+531C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574157G=CA2427971197SYN1c.1827C= (p.Pro609=)
c.70+531C= (n.70+531C=)
Xg.47574157G>TCA516353410SYN1c.1827C>A (p.Pro609=)
c.70+531C>A (n.70+531C>A)
 gnomAD v4
Xg.47574158G>ACA412822445SYN1c.1826C>T (p.Pro609Leu)
c.70+530C>T (n.70+530C>T)
Xg.47574158G>CCA412822443SYN1c.1826C>G (p.Pro609Arg)
c.70+530C>G (n.70+530C>G)
Xg.47574158G>TCA412822444SYN1c.1826C>A (p.Pro609His)
c.70+530C>A (n.70+530C>A)
Xg.47574159G>ACA412822447SYN1c.1825C>T (p.Pro609Ser)
c.70+529C>T (n.70+529C>T)
 gnomAD v4
Xg.47574159G>CCA412822449SYN1c.1825C>G (p.Pro609Ala)
c.70+529C>G (n.70+529C>G)
Xg.47574159G>TCA412822450SYN1c.1825C>A (p.Pro609Thr)
c.70+529C>A (n.70+529C>A)
 gnomAD v4
Xg.47574160A>CCA516353412SYN1c.1824T>G (p.Gly608=)
c.70+528T>G (n.70+528T>G)
Xg.47574160A>GCA516353413SYN1c.1824T>C (p.Gly608=)
c.70+528T>C (n.70+528T>C)
 gnomAD v4
Xg.47574160A>TCA516353414SYN1c.1824T>A (p.Gly608=)
c.70+528T>A (n.70+528T>A)
Xg.47574161C>ACA412822452SYN1c.1823G>T (p.Gly608Val)
c.70+527G>T (n.70+527G>T)
Xg.47574161C>GCA412822453SYN1c.1823G>C (p.Gly608Ala)
c.70+527G>C (n.70+527G>C)
 gnomAD v4
Xg.47574161C>TCA412822455SYN1c.1823G>A (p.Gly608Asp)
c.70+527G>A (n.70+527G>A)
 gnomAD v4
Xg.47574162C>ACA329057198SYN1c.1822G>T (p.Gly608Cys)
c.70+526G>T (n.70+526G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574162C=CA2427971198SYN1c.1822G= (p.Gly608=)
c.70+526G= (n.70+526G=)
Xg.47574162C>GCA412822458SYN1c.1822G>C (p.Gly608Arg)
c.70+526G>C (n.70+526G>C)
Xg.47574162C>TCA412822459SYN1c.1822G>A (p.Gly608Ser)
c.70+526G>A (n.70+526G>A)
 gnomAD v4
Xg.47574163C>ACA516353415SYN1c.1821G>T (p.Ala607=)
c.70+525G>T (n.70+525G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574163C=CA2427971199SYN1c.1821G= (p.Ala607=)
c.70+525G= (n.70+525G=)
Xg.47574163C>GCA516353416SYN1c.1821G>C (p.Ala607=)
c.70+525G>C (n.70+525G>C)
Xg.47574163C>TCA516353417SYN1c.1821G>A (p.Ala607=)
c.70+525G>A (n.70+525G>A)
 ClinVar gnomAD v4
Xg.47574164G>ACA412822461SYN1c.1820C>T (p.Ala607Val)
c.70+524C>T (n.70+524C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.47574164G>CCA412822463SYN1c.1820C>G (p.Ala607Gly)
c.70+524C>G (n.70+524C>G)
 ClinVar gnomAD v4
Xg.47574164G=CA2427971200SYN1c.1820C= (p.Ala607=)
c.70+524C= (n.70+524C=)
Xg.47574164G>TCA412822464SYN1c.1820C>A (p.Ala607Glu)
c.70+524C>A (n.70+524C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574165C>ACA412822470SYN1c.1819G>T (p.Ala607Ser)
c.70+523G>T (n.70+523G>T)
Xg.47574165C=CA2427971201SYN1c.1819G= (p.Ala607=)
c.70+523G= (n.70+523G=)
Xg.47574165C>GCA412822468SYN1c.1819G>C (p.Ala607Pro)
c.70+523G>C (n.70+523G>C)
Xg.47574165C>TCA412822466SYN1c.1819G>A (p.Ala607Thr)
c.70+523G>A (n.70+523G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574166C>ACA412822471SYN1c.1818G>T (p.Gln606His)
c.70+522G>T (n.70+522G>T)
Xg.47574166C=CA2427971202SYN1c.1818G= (p.Gln606=)
c.70+522G= (n.70+522G=)
Xg.47574166C>GCA412822473SYN1c.1818G>C (p.Gln606His)
c.70+522G>C (n.70+522G>C)
 gnomAD v4
Xg.47574166C>TCA329057201SYN1c.1818G>A (p.Gln606=)
c.70+522G>A (n.70+522G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574167T>ACA412822475SYN1c.1817A>T (p.Gln606Leu)
c.70+521A>T (n.70+521A>T)
Xg.47574167T>CCA412822477SYN1c.1817A>G (p.Gln606Arg)
c.70+521A>G (n.70+521A>G)
 gnomAD v4
Xg.47574167T>GCA412822478SYN1c.1817A>C (p.Gln606Pro)
c.70+521A>C (n.70+521A>C)
Xg.47574168G>ACA412822480SYN1c.1816C>T (p.Gln606Ter)
c.70+520C>T (n.70+520C>T)
 gnomAD v4
Xg.47574168G>CCA412822482SYN1c.1816C>G (p.Gln606Glu)
c.70+520C>G (n.70+520C>G)
Xg.47574168G>TCA412822483SYN1c.1816C>A (p.Gln606Lys)
c.70+520C>A (n.70+520C>A)
 gnomAD v4
Xg.47574169G>ACA516353422SYN1c.1815C>T (p.Ser605=)
c.70+519C>T (n.70+519C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574169G>CCA412822485SYN1c.1815C>G (p.Ser605Arg)
c.70+519C>G (n.70+519C>G)
Xg.47574169G=CA2427971203SYN1c.1815C= (p.Ser605=)
c.70+519C= (n.70+519C=)
Xg.47574169G>TCA412822486SYN1c.1815C>A (p.Ser605Arg)
c.70+519C>A (n.70+519C>A)
 gnomAD v4
Xg.47574170C>ACA412822487SYN1c.1814G>T (p.Ser605Ile)
c.70+518G>T (n.70+518G>T)
 gnomAD v4
Xg.47574170C>GCA412822489SYN1c.1814G>C (p.Ser605Thr)
c.70+518G>C (n.70+518G>C)
Xg.47574170C>TCA412822491SYN1c.1814G>A (p.Ser605Asn)
c.70+518G>A (n.70+518G>A)
 gnomAD v4
Xg.47574171T>ACA412822494SYN1c.1813A>T (p.Ser605Cys)
c.70+517A>T (n.70+517A>T)
Xg.47574171T>CCA412822496SYN1c.1813A>G (p.Ser605Gly)
c.70+517A>G (n.70+517A>G)
 gnomAD v4
Xg.47574171T>GCA412822493SYN1c.1813A>C (p.Ser605Arg)
c.70+517A>C (n.70+517A>C)
 ClinVar gnomAD v4
Xg.47574172G>ACA516353426SYN1c.1812C>T (p.Ala604=)
c.70+516C>T (n.70+516C>T)
 gnomAD v4
Xg.47574172G>CCA516353428SYN1c.1812C>G (p.Ala604=)
c.70+516C>G (n.70+516C>G)
Xg.47574172G>TCA516353430SYN1c.1812C>A (p.Ala604=)
c.70+516C>A (n.70+516C>A)
Xg.47574173G>ACA329057203SYN1c.1811C>T (p.Ala604Val)
c.70+515C>T (n.70+515C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574173G>CCA412822498SYN1c.1811C>G (p.Ala604Gly)
c.70+515C>G (n.70+515C>G)
Xg.47574173G=CA2427971204SYN1c.1811C= (p.Ala604=)
c.70+515C= (n.70+515C=)
Xg.47574173G>TCA412822500SYN1c.1811C>A (p.Ala604Asp)
c.70+515C>A (n.70+515C>A)
 gnomAD v4
Xg.47574174C>ACA412822501SYN1c.1810G>T (p.Ala604Ser)
c.70+514G>T (n.70+514G>T)
Xg.47574174C>GCA412822503SYN1c.1810G>C (p.Ala604Pro)
c.70+514G>C (n.70+514G>C)
Xg.47574174C>TCA412822505SYN1c.1810G>A (p.Ala604Thr)
c.70+514G>A (n.70+514G>A)
 gnomAD v4
Xg.47574175C>ACA412822508SYN1c.1809G>T (p.Gln603His)
c.70+513G>T (n.70+513G>T)
 gnomAD v4
Xg.47574175C>GCA412822507SYN1c.1809G>C (p.Gln603His)
c.70+513G>C (n.70+513G>C)
Xg.47574175C>TCA516353431SYN1c.1809G>A (p.Gln603=)
c.70+513G>A (n.70+513G>A)
 gnomAD v4
Xg.47574176T>ACA412822511SYN1c.1808A>T (p.Gln603Leu)
c.70+512A>T (n.70+512A>T)
Xg.47574176T>CCA412822512SYN1c.1808A>G (p.Gln603Arg)
c.70+512A>G (n.70+512A>G)
 gnomAD v4
Xg.47574176T>GCA412822514SYN1c.1808A>C (p.Gln603Pro)
c.70+512A>C (n.70+512A>C)
Xg.47574177G>ACA412822515SYN1c.1807C>T (p.Gln603Ter)
c.70+511C>T (n.70+511C>T)
Xg.47574177G>CCA412822517SYN1c.1807C>G (p.Gln603Glu)
c.70+511C>G (n.70+511C>G)
Xg.47574177G>TCA412822519SYN1c.1807C>A (p.Gln603Lys)
c.70+511C>A (n.70+511C>A)
 gnomAD v4
Xg.47574178G>ACA516353432SYN1c.1806C>T (p.Arg602=)
c.70+510C>T (n.70+510C>T)
 gnomAD v4
Xg.47574178G>CCA516353434SYN1c.1806C>G (p.Arg602=)
c.70+510C>G (n.70+510C>G)
Xg.47574178G>TCA516353435SYN1c.1806C>A (p.Arg602=)
c.70+510C>A (n.70+510C>A)
 gnomAD v4
Xg.47574179C>ACA412822523SYN1c.1805G>T (p.Arg602Leu)
c.70+509G>T (n.70+509G>T)
 gnomAD v4
Xg.47574179C>GCA412822521SYN1c.1805G>C (p.Arg602Pro)
c.70+509G>C (n.70+509G>C)
Xg.47574179C>TCA412822522SYN1c.1805G>A (p.Arg602His)
c.70+509G>A (n.70+509G>A)
 gnomAD v4
Xg.47574180G>ACA412822525SYN1c.1804C>T (p.Arg602Cys)
c.70+508C>T (n.70+508C>T)
 gnomAD v4
Xg.47574180G>CCA412822527SYN1c.1804C>G (p.Arg602Gly)
c.70+508C>G (n.70+508C>G)
Xg.47574180G>TCA412822528SYN1c.1804C>A (p.Arg602Ser)
c.70+508C>A (n.70+508C>A)
 gnomAD v4
Xg.47574180_47574181delinsGTCA2427971205SYN1c.1803_1804delinsAC (p.Thr601=)
c.70+507_70+508delinsAC (n.70+507_70+508delinsAC)
Xg.47574181delCA641900863SYN1c.1803del (p.Arg602AlafsTer?)
c.70+507del (n.70+507del)
 dbSNP gnomAD v2
Xg.47574181T>ACA516353437SYN1c.1803A>T (p.Thr601=)
c.70+507A>T (n.70+507A>T)
Xg.47574181T>CCA516353438SYN1c.1803A>G (p.Thr601=)
c.70+507A>G (n.70+507A>G)
 gnomAD v4
Xg.47574181T>GCA516353436SYN1c.1803A>C (p.Thr601=)
c.70+507A>C (n.70+507A>C)
Xg.47574182G>ACA412822529SYN1c.1802C>T (p.Thr601Ile)
c.70+506C>T (n.70+506C>T)
 gnomAD v4
Xg.47574182G>CCA412822530SYN1c.1802C>G (p.Thr601Arg)
c.70+506C>G (n.70+506C>G)
 dbSNP gnomAD v2
Xg.47574182G=CA2427971206SYN1c.1802C= (p.Thr601=)
c.70+506C= (n.70+506C=)
Xg.47574182G>TCA412822531SYN1c.1802C>A (p.Thr601Lys)
c.70+506C>A (n.70+506C>A)
Xg.47574183T>ACA412822532SYN1c.1801A>T (p.Thr601Ser)
c.70+505A>T (n.70+505A>T)
Xg.47574183T>CCA412822534SYN1c.1801A>G (p.Thr601Ala)
c.70+505A>G (n.70+505A>G)
Xg.47574183T>GCA412822536SYN1c.1801A>C (p.Thr601Pro)
c.70+505A>C (n.70+505A>C)
Xg.47574183_47574184delinsTGCA2427971207SYN1c.1800_1801delinsCA (p.Pro600=)
c.70+504_70+505delinsCA (n.70+504_70+505delinsCA)
Xg.47574184G>ACA516353439SYN1c.1800C>T (p.Pro600=)
c.70+504C>T (n.70+504C>T)
Xg.47574184G>CCA516353440SYN1c.1800C>G (p.Pro600=)
c.70+504C>G (n.70+504C>G)
Xg.47574184G>TCA516353442SYN1c.1800C>A (p.Pro600=)
c.70+504C>A (n.70+504C>A)
Xg.47574187delCA2427971208SYN1c.1800del (p.Thr601HisfsTer?)
c.70+504del (n.70+504del)
 dbSNP gnomAD v4
Xg.47574185G>ACA412822537SYN1c.1799C>T (p.Pro600Leu)
c.70+503C>T (n.70+503C>T)
 gnomAD v4
Xg.47574185G>CCA412822538SYN1c.1799C>G (p.Pro600Arg)
c.70+503C>G (n.70+503C>G)
 gnomAD v4
Xg.47574185G>TCA412822540SYN1c.1799C>A (p.Pro600His)
c.70+503C>A (n.70+503C>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574185_47574188delinsGGGCCA2427971209SYN1c.1796_1799delinsGCCC (p.Gly599=)
c.70+500_70+503delinsGCCC (n.70+500_70+503delinsGCCC)
Xg.47574186G>ACA412822542SYN1c.1798C>T (p.Pro600Ser)
c.70+502C>T (n.70+502C>T)
 gnomAD v4
Xg.47574186G>CCA412822545SYN1c.1798C>G (p.Pro600Ala)
c.70+502C>G (n.70+502C>G)
Xg.47574186G>TCA412822544SYN1c.1798C>A (p.Pro600Thr)
c.70+502C>A (n.70+502C>A)
 gnomAD v4
Xg.47574186_47574188delCA516353444SYN1c.1796_1798del (p.Gly599_Pro600delinsAla)
c.70+500_70+502del (n.70+500_70+502del)
 dbSNP
Xg.47574187G>ACA516353446SYN1c.1797C>T (p.Gly599=)
c.70+501C>T (n.70+501C>T)
 gnomAD v4
Xg.47574187G>CCA516353449SYN1c.1797C>G (p.Gly599=)
c.70+501C>G (n.70+501C>G)
 gnomAD v4
Xg.47574187G>TCA516353448SYN1c.1797C>A (p.Gly599=)
c.70+501C>A (n.70+501C>A)
 gnomAD v4
Xg.47574188_47574190delCA412822546SYN1c.1795_1797del (p.Gly599del)
c.70+499_70+501del (n.70+499_70+501del)
Xg.47574188C>ACA412822548SYN1c.1796G>T (p.Gly599Val)
c.70+500G>T (n.70+500G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574188C=CA2427971210SYN1c.1796G= (p.Gly599=)
c.70+500G= (n.70+500G=)
Xg.47574188C>GCA412822549SYN1c.1796G>C (p.Gly599Ala)
c.70+500G>C (n.70+500G>C)
 gnomAD v4
Xg.47574188C>TCA412822550SYN1c.1796G>A (p.Gly599Asp)
c.70+500G>A (n.70+500G>A)
 dbSNP gnomAD v4
Xg.47574189C>ACA412822551SYN1c.1795G>T (p.Gly599Cys)
c.70+499G>T (n.70+499G>T)
 gnomAD v4
Xg.47574189C>GCA412822553SYN1c.1795G>C (p.Gly599Arg)
c.70+499G>C (n.70+499G>C)
Xg.47574189C>TCA412822554SYN1c.1795G>A (p.Gly599Ser)
c.70+499G>A (n.70+499G>A)
 gnomAD v4
Xg.47574190G>ACA516353451SYN1c.1794C>T (p.Ala598=)
c.70+498C>T (n.70+498C>T)
 dbSNP gnomAD v4
Xg.47574190G>CCA516353452SYN1c.1794C>G (p.Ala598=)
c.70+498C>G (n.70+498C>G)
 ClinVar dbSNP gnomAD v4
Xg.47574190G=CA2427971211SYN1c.1794C= (p.Ala598=)
c.70+498C= (n.70+498C=)
Xg.47574190G>TCA516353453SYN1c.1794C>A (p.Ala598=)
c.70+498C>A (n.70+498C>A)
Xg.47574191G>ACA412822555SYN1c.1793C>T (p.Ala598Val)
c.70+497C>T (n.70+497C>T)
 dbSNP gnomAD v4
Xg.47574191G>CCA412822556SYN1c.1793C>G (p.Ala598Gly)
c.70+497C>G (n.70+497C>G)
Xg.47574191G=CA2427971212SYN1c.1793C= (p.Ala598=)
c.70+497C= (n.70+497C=)
Xg.47574191G>TCA412822558SYN1c.1793C>A (p.Ala598Asp)
c.70+497C>A (n.70+497C>A)
 gnomAD v4
Xg.47574192C>ACA412822559SYN1c.1792G>T (p.Ala598Ser)
c.70+496G>T (n.70+496G>T)
 gnomAD v4
Xg.47574192C>GCA412822560SYN1c.1792G>C (p.Ala598Pro)
c.70+496G>C (n.70+496G>C)
Xg.47574192C>TCA412822562SYN1c.1792G>A (p.Ala598Thr)
c.70+496G>A (n.70+496G>A)
 gnomAD v4
Xg.47574193T>ACA516353454SYN1c.1791A>T (p.Pro597=)
c.70+495A>T (n.70+495A>T)
Xg.47574193T>CCA516353455SYN1c.1791A>G (p.Pro597=)
c.70+495A>G (n.70+495A>G)
 ClinVar gnomAD v4
Xg.47574193T>GCA516353456SYN1c.1791A>C (p.Pro597=)
c.70+495A>C (n.70+495A>C)
Xg.47574194G>ACA10398346SYN1c.1790C>T (p.Pro597Leu)
c.70+494C>T (n.70+494C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.47574194G>CCA412822566SYN1c.1790C>G (p.Pro597Arg)
c.70+494C>G (n.70+494C>G)
Xg.47574194G=CA2427971213SYN1c.1790C= (p.Pro597=)
c.70+494C= (n.70+494C=)
Xg.47574194G>TCA412822565SYN1c.1790C>A (p.Pro597Gln)
c.70+494C>A (n.70+494C>A)
 gnomAD v4
Xg.47574196delCA2693584862SYN1c.1790del (p.Pro597GlnfsTer?)
c.70+494del (n.70+494del)
 gnomAD v4
Xg.47574195G>ACA412822568SYN1c.1789C>T (p.Pro597Ser)
c.70+493C>T (n.70+493C>T)
 dbSNP gnomAD v4
Xg.47574195G>CCA412822570SYN1c.1789C>G (p.Pro597Ala)
c.70+493C>G (n.70+493C>G)
 gnomAD v4
Xg.47574195G=CA2427971214SYN1c.1789C= (p.Pro597=)
c.70+493C= (n.70+493C=)
Xg.47574195G>TCA412822571SYN1c.1789C>A (p.Pro597Thr)
c.70+493C>A (n.70+493C>A)
 gnomAD v4
Xg.47574196G>ACA329057210SYN1c.1788C>T (p.Gly596=)
c.70+492C>T (n.70+492C>T)
 dbSNP gnomAD v4
Xg.47574196G>CCA516353457SYN1c.1788C>G (p.Gly596=)
c.70+492C>G (n.70+492C>G)
Xg.47574196G=CA2427971215SYN1c.1788C= (p.Gly596=)
c.70+492C= (n.70+492C=)
Xg.47574196G>TCA516353458SYN1c.1788C>A (p.Gly596=)
c.70+492C>A (n.70+492C>A)
 dbSNP
Xg.47574197C>ACA412822574SYN1c.1787G>T (p.Gly596Val)
c.70+491G>T (n.70+491G>T)
 ClinVar dbSNP
Xg.47574197C>GCA412822575SYN1c.1787G>C (p.Gly596Ala)
c.70+491G>C (n.70+491G>C)
Xg.47574197C>TCA412822576SYN1c.1787G>A (p.Gly596Asp)
c.70+491G>A (n.70+491G>A)
 gnomAD v4
Xg.47574198C>ACA412822578SYN1c.1786G>T (p.Gly596Cys)
c.70+490G>T (n.70+490G>T)
 gnomAD v4
Xg.47574198C>GCA412822580SYN1c.1786G>C (p.Gly596Arg)
c.70+490G>C (n.70+490G>C)
Xg.47574198C>TCA412822582SYN1c.1786G>A (p.Gly596Ser)
c.70+490G>A (n.70+490G>A)
Xg.47574199T>ACA516353459SYN1c.1785A>T (p.Pro595=)
c.70+489A>T (n.70+489A>T)
Xg.47574199T>CCA516353460SYN1c.1785A>G (p.Pro595=)
c.70+489A>G (n.70+489A>G)
 gnomAD v4
Xg.47574199T>GCA516353461SYN1c.1785A>C (p.Pro595=)
c.70+489A>C (n.70+489A>C)
 gnomAD v4
Xg.47574200G>ACA412822586SYN1c.1784C>T (p.Pro595Leu)
c.70+488C>T (n.70+488C>T)
 gnomAD v4
Xg.47574200G>CCA412822585SYN1c.1784C>G (p.Pro595Arg)
c.70+488C>G (n.70+488C>G)
Xg.47574200G>TCA412822583SYN1c.1784C>A (p.Pro595Gln)
c.70+488C>A (n.70+488C>A)
 gnomAD v4
Xg.47574204delCA2693584880SYN1c.1784del (p.Pro595GlnfsTer?)
c.70+488del (n.70+488del)
 gnomAD v4
Xg.47574201G>ACA412822588SYN1c.1783C>T (p.Pro595Ser)
c.70+487C>T (n.70+487C>T)
Xg.47574201G>CCA412822589SYN1c.1783C>G (p.Pro595Ala)
c.70+487C>G (n.70+487C>G)
Xg.47574201G>TCA412822590SYN1c.1783C>A (p.Pro595Thr)
c.70+487C>A (n.70+487C>A)
Xg.47574202G>ACA516353467SYN1c.1782C>T (p.Pro594=)
c.70+486C>T (n.70+486C>T)
 ClinVar dbSNP
Xg.47574202G>CCA516353466SYN1c.1782C>G (p.Pro594=)
c.70+486C>G (n.70+486C>G)
Xg.47574202G>TCA516353464SYN1c.1782C>A (p.Pro594=)
c.70+486C>A (n.70+486C>A)
 gnomAD v4
Xg.47574203G>ACA412822592SYN1c.1781C>T (p.Pro594Leu)
c.70+485C>T (n.70+485C>T)
Xg.47574203G>CCA412822593SYN1c.1781C>G (p.Pro594Arg)
c.70+485C>G (n.70+485C>G)
 COSMIC COSMIC
Xg.47574203G>TCA412822595SYN1c.1781C>A (p.Pro594His)
c.70+485C>A (n.70+485C>A)
 gnomAD v4
Xg.47574204G>ACA412822596SYN1c.1780C>T (p.Pro594Ser)
c.70+484C>T (n.70+484C>T)
 gnomAD v4
Xg.47574204G>CCA412822598SYN1c.1780C>G (p.Pro594Ala)
c.70+484C>G (n.70+484C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574204G=CA2427971216SYN1c.1780C= (p.Pro594=)
c.70+484C= (n.70+484C=)
Xg.47574204G>TCA329057215SYN1c.1780C>A (p.Pro594Thr)
c.70+484C>A (n.70+484C>A)
 dbSNP
Xg.47574205T>ACA412822600SYN1c.1779A>T (p.Lys593Asn)
c.70+483A>T (n.70+483A>T)
Xg.47574205T>CCA516353471SYN1c.1779A>G (p.Lys593=)
c.70+483A>G (n.70+483A>G)
 gnomAD v4
Xg.47574205T>GCA329057229SYN1c.1779A>C (p.Lys593Asn)
c.70+483A>C (n.70+483A>C)
 dbSNP gnomAD v4
Xg.47574205T=CA2427971217SYN1c.1779A= (p.Lys593=)
c.70+483A= (n.70+483A=)
Xg.47574206T>ACA412822602SYN1c.1778A>T (p.Lys593Ile)
c.70+482A>T (n.70+482A>T)
Xg.47574206T>CCA412822603SYN1c.1778A>G (p.Lys593Arg)
c.70+482A>G (n.70+482A>G)
Xg.47574206T>GCA412822605SYN1c.1778A>C (p.Lys593Thr)
c.70+482A>C (n.70+482A>C)
Xg.47574207T>ACA412822609SYN1c.1777A>T (p.Lys593Ter)
c.70+481A>T (n.70+481A>T)
Xg.47574207T>CCA412822608SYN1c.1777A>G (p.Lys593Glu)
c.70+481A>G (n.70+481A>G)
 gnomAD v4
Xg.47574207T>GCA412822607SYN1c.1777A>C (p.Lys593Gln)
c.70+481A>C (n.70+481A>C)
Xg.47574208C>ACA412822610SYN1c.1776G>T (p.Gln592His)
c.70+480G>T (n.70+480G>T)
 gnomAD v4
Xg.47574208C>GCA412822611SYN1c.1776G>C (p.Gln592His)
c.70+480G>C (n.70+480G>C)
Xg.47574208C>TCA516353479SYN1c.1776G>A (p.Gln592=)
c.70+480G>A (n.70+480G>A)
Xg.47574209T>ACA412822613SYN1c.1775A>T (p.Gln592Leu)
c.70+479A>T (n.70+479A>T)
Xg.47574209T>CCA412822615SYN1c.1775A>G (p.Gln592Arg)
c.70+479A>G (n.70+479A>G)
 gnomAD v4
Xg.47574209T>GCA412822617SYN1c.1775A>C (p.Gln592Pro)
c.70+479A>C (n.70+479A>C)
Xg.47574210G>ACA412822618SYN1c.1774C>T (p.Gln592Ter)
c.70+478C>T (n.70+478C>T)
 gnomAD v4
Xg.47574210G>CCA412822620SYN1c.1774C>G (p.Gln592Glu)
c.70+478C>G (n.70+478C>G)
Xg.47574210G>TCA412822621SYN1c.1774C>A (p.Gln592Lys)
c.70+478C>A (n.70+478C>A)
Xg.47574213delCA2693584906SYN1c.1774del (p.Gln592ArgfsTer?)
c.70+478del (n.70+478del)
 gnomAD v4
Xg.47574211G>ACA516353482SYN1c.1773C>T (p.Pro591=)
c.70+477C>T (n.70+477C>T)
Xg.47574211G>CCA516353484SYN1c.1773C>G (p.Pro591=)
c.70+477C>G (n.70+477C>G)
Xg.47574211G>TCA516353486SYN1c.1773C>A (p.Pro591=)
c.70+477C>A (n.70+477C>A)
 gnomAD v4
Xg.47574212G>ACA412822623SYN1c.1772C>T (p.Pro591Leu)
c.70+476C>T (n.70+476C>T)
 gnomAD v4
Xg.47574212G>CCA412822625SYN1c.1772C>G (p.Pro591Arg)
c.70+476C>G (n.70+476C>G)
Xg.47574212G>TCA412822626SYN1c.1772C>A (p.Pro591His)
c.70+476C>A (n.70+476C>A)
Xg.47574213G>ACA412822628SYN1c.1771C>T (p.Pro591Ser)
c.70+475C>T (n.70+475C>T)
 gnomAD v4
Xg.47574213G>CCA412822630SYN1c.1771C>G (p.Pro591Ala)
c.70+475C>G (n.70+475C>G)
Xg.47574213G>TCA412822631SYN1c.1771C>A (p.Pro591Thr)
c.70+475C>A (n.70+475C>A)
 gnomAD v4
Xg.47574215_47574226dupCA2695233455SYN1c.1760_1771dup (p.Pro590_Pro591insArgGlnGlyPro)
c.70+464_70+475dup (n.70+464_70+475dup)
Xg.47574214C>ACA516353490SYN1c.1770G>T (p.Pro590=)
c.70+474G>T (n.70+474G>T)
 gnomAD v4
Xg.47574214C=CA2427971218SYN1c.1770G= (p.Pro590=)
c.70+474G= (n.70+474G=)
Xg.47574214C>GCA516353491SYN1c.1770G>C (p.Pro590=)
c.70+474G>C (n.70+474G>C)
Xg.47574214C>TCA516353494SYN1c.1770G>A (p.Pro590=)
c.70+474G>A (n.70+474G>A)
 dbSNP gnomAD v4
Xg.47574215G>ACA412822634SYN1c.1769C>T (p.Pro590Leu)
c.70+473C>T (n.70+473C>T)
 gnomAD v4
Xg.47574215G>CCA412822635SYN1c.1769C>G (p.Pro590Arg)
c.70+473C>G (n.70+473C>G)
Xg.47574215G>TCA412822633SYN1c.1769C>A (p.Pro590Gln)
c.70+473C>A (n.70+473C>A)
 gnomAD v4
Xg.47574216G>ACA412822637SYN1c.1768C>T (p.Pro590Ser)
c.70+472C>T (n.70+472C>T)
 gnomAD v4
Xg.47574216G>CCA412822638SYN1c.1768C>G (p.Pro590Ala)
c.70+472C>G (n.70+472C>G)
Xg.47574216G>TCA412822639SYN1c.1768C>A (p.Pro590Thr)
c.70+472C>A (n.70+472C>A)
Xg.47574217G>ACA516353499SYN1c.1767C>T (p.Gly589=)
c.70+471C>T (n.70+471C>T)
 gnomAD v4
Xg.47574217G>CCA516353500SYN1c.1767C>G (p.Gly589=)
c.70+471C>G (n.70+471C>G)
Xg.47574217G>TCA516353501SYN1c.1767C>A (p.Gly589=)
c.70+471C>A (n.70+471C>A)
 gnomAD v4
Xg.47574218C>ACA412822641SYN1c.1766G>T (p.Gly589Val)
c.70+470G>T (n.70+470G>T)
 dbSNP gnomAD v4
Xg.47574218C=CA2427971219SYN1c.1766G= (p.Gly589=)
c.70+470G= (n.70+470G=)
Xg.47574218C>GCA412822642SYN1c.1766G>C (p.Gly589Ala)
c.70+470G>C (n.70+470G>C)
Xg.47574218C>TCA412822643SYN1c.1766G>A (p.Gly589Asp)
c.70+470G>A (n.70+470G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574220delCA2512474855SYN1c.1766del (p.Gly589AlafsTer?)
c.70+470del (n.70+470del)
Xg.47574218_47574219insAGCAGCGCA2820775721SYN1c.1765_1766insCGCTGCT (p.Gly589AlafsTer?)
c.70+469_70+470insCGCTGCT (n.70+469_70+470insCGCTGCT)
Xg.47574219C>ACA412822648SYN1c.1765G>T (p.Gly589Cys)
c.70+469G>T (n.70+469G>T)
 gnomAD v4
Xg.47574219C>GCA412822645SYN1c.1765G>C (p.Gly589Arg)
c.70+469G>C (n.70+469G>C)
Xg.47574219C>TCA412822646SYN1c.1765G>A (p.Gly589Ser)
c.70+469G>A (n.70+469G>A)
 ClinVar
Xg.47574229_47574321delCA2693584929SYN1c.1673_1765del (p.Ala558_Gln588del)
c.70+377_70+469del (n.70+377_70+469del)
 gnomAD v4
Xg.47574220C>ACA412822649SYN1c.1764G>T (p.Gln588His)
c.70+468G>T (n.70+468G>T)
 gnomAD v4
Xg.47574220C=CA2427971220SYN1c.1764G= (p.Gln588=)
c.70+468G= (n.70+468G=)
Xg.47574220C>GCA412822651SYN1c.1764G>C (p.Gln588His)
c.70+468G>C (n.70+468G>C)
Xg.47574220C>TCA516353504SYN1c.1764G>A (p.Gln588=)
c.70+468G>A (n.70+468G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched