Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155238148G>ACA421025563GBA1c.747C>T (p.Ala249=)
c.600C>T (p.Ala200=)
c.486C>T (p.Ala162=)
n.534C>T
n.339+1825C>T
n.352C>T
n.370C>T
1g.155238148G>CCA421025564GBA1c.747C>G (p.Ala249=)
c.600C>G (p.Ala200=)
c.486C>G (p.Ala162=)
n.534C>G
n.339+1825C>G
n.352C>G
n.370C>G
1g.155238148G>TCA421025565GBA1c.747C>A (p.Ala249=)
c.600C>A (p.Ala200=)
c.486C>A (p.Ala162=)
n.534C>A
n.339+1825C>A
n.352C>A
n.370C>A
1g.155238149G>ACA342721268GBA1c.746C>T (p.Ala249Val)
c.599C>T (p.Ala200Val)
c.485C>T (p.Ala162Val)
n.533C>T
n.339+1824C>T
n.351C>T
n.369C>T
1g.155238149G>CCA342721276GBA1c.746C>G (p.Ala249Gly)
c.599C>G (p.Ala200Gly)
c.485C>G (p.Ala162Gly)
n.533C>G
n.339+1824C>G
n.351C>G
n.369C>G
1g.155238149G>TCA342721278GBA1c.746C>A (p.Ala249Asp)
c.599C>A (p.Ala200Asp)
c.485C>A (p.Ala162Asp)
n.533C>A
n.339+1824C>A
n.351C>A
n.369C>A
1g.155238150C>ACA342721280GBA1c.745G>T (p.Ala249Ser)
c.598G>T (p.Ala200Ser)
c.484G>T (p.Ala162Ser)
n.532G>T
n.339+1823G>T
n.350G>T
n.368G>T
 dbSNP gnomAD v2 gnomAD v4
1g.155238150C=CA2481202735GBA1c.745G= (p.Ala249=)
c.598G= (p.Ala200=)
c.484G= (p.Ala162=)
n.532G=
n.339+1823G=
n.350G=
n.368G=
1g.155238150C>GCA342721282GBA1c.745G>C (p.Ala249Pro)
c.598G>C (p.Ala200Pro)
c.484G>C (p.Ala162Pro)
n.532G>C
n.339+1823G>C
n.350G>C
n.368G>C
1g.155238150C>TCA342721284GBA1c.745G>A (p.Ala249Thr)
c.598G>A (p.Ala200Thr)
c.484G>A (p.Ala162Thr)
n.532G>A
n.339+1823G>A
n.350G>A
n.368G>A
1g.155238152delCA2586967495GBA1c.745del (p.Ala249ProfsTer5)
c.598del (p.Ala200ProfsTer5)
c.484del (p.Ala162ProfsTer5)
n.532del
n.339+1823del
n.350del
n.368del
1g.155238151C>ACA342721295GBA1c.744G>T (p.Trp248Cys)
c.597G>T (p.Trp199Cys)
c.483G>T (p.Trp161Cys)
n.531G>T
n.339+1822G>T
n.349G>T
n.367G>T
1g.155238151C>GCA342721291GBA1c.744G>C (p.Trp248Cys)
c.597G>C (p.Trp199Cys)
c.483G>C (p.Trp161Cys)
n.531G>C
n.339+1822G>C
n.349G>C
n.367G>C
1g.155238151C>TCA342721289GBA1c.744G>A (p.Trp248Ter)
c.597G>A (p.Trp199Ter)
c.483G>A (p.Trp161Ter)
n.531G>A
n.339+1822G>A
n.349G>A
n.367G>A
1g.155238152C>ACA342721296GBA1c.743G>T (p.Trp248Leu)
c.596G>T (p.Trp199Leu)
c.482G>T (p.Trp161Leu)
n.530G>T
n.339+1821G>T
n.348G>T
n.366G>T
1g.155238152C=CA2481202736GBA1c.743G= (p.Trp248=)
c.596G= (p.Trp199=)
c.482G= (p.Trp161=)
n.530G=
n.339+1821G=
n.348G=
n.366G=
1g.155238152C>GCA342721299GBA1c.743G>C (p.Trp248Ser)
c.596G>C (p.Trp199Ser)
c.482G>C (p.Trp161Ser)
n.530G>C
n.339+1821G>C
n.348G>C
n.366G>C
1g.155238152C>TCA342721307GBA1c.743G>A (p.Trp248Ter)
c.596G>A (p.Trp199Ter)
c.482G>A (p.Trp161Ter)
n.530G>A
n.339+1821G>A
n.348G>A
n.366G>A
 dbSNP gnomAD v3 gnomAD v4
1g.155238153A>CCA342721311GBA1c.742T>G (p.Trp248Gly)
c.595T>G (p.Trp199Gly)
c.481T>G (p.Trp161Gly)
n.529T>G
n.339+1820T>G
n.347T>G
n.365T>G
1g.155238153A>GCA342721315GBA1c.742T>C (p.Trp248Arg)
c.595T>C (p.Trp199Arg)
c.481T>C (p.Trp161Arg)
n.529T>C
n.339+1820T>C
n.347T>C
n.365T>C
1g.155238153A>TCA342721325GBA1c.742T>A (p.Trp248Arg)
c.595T>A (p.Trp199Arg)
c.481T>A (p.Trp161Arg)
n.529T>A
n.339+1820T>A
n.347T>A
n.365T>A
1g.155238154G>ACA421025566GBA1c.741C>T (p.Thr247=)
c.594C>T (p.Thr198=)
c.480C>T (p.Thr160=)
n.528C>T
n.339+1819C>T
n.346C>T
n.364C>T
 dbSNP gnomAD v3 gnomAD v4
1g.155238154G>CCA421025567GBA1c.741C>G (p.Thr247=)
c.594C>G (p.Thr198=)
c.480C>G (p.Thr160=)
n.528C>G
n.339+1819C>G
n.346C>G
n.364C>G
1g.155238154G=CA2481202737GBA1c.741C= (p.Thr247=)
c.594C= (p.Thr198=)
c.480C= (p.Thr160=)
n.528C=
n.339+1819C=
n.346C=
n.364C=
1g.155238154G>TCA421025568GBA1c.741C>A (p.Thr247=)
c.594C>A (p.Thr198=)
c.480C>A (p.Thr160=)
n.528C>A
n.339+1819C>A
n.346C>A
n.364C>A
1g.155238155delCA2586967496GBA1c.741del (p.Trp248GlyfsTer6)
c.594del (p.Trp199GlyfsTer6)
c.480del (p.Trp161GlyfsTer6)
n.528del
n.339+1819del
n.346del
n.364del
1g.155238155G>ACA342721353GBA1c.740C>T (p.Thr247Ile)
c.593C>T (p.Thr198Ile)
c.479C>T (p.Thr160Ile)
n.527C>T
n.339+1818C>T
n.345C>T
n.363C>T
 dbSNP
1g.155238155G>CCA342721328GBA1c.740C>G (p.Thr247Ser)
c.593C>G (p.Thr198Ser)
c.479C>G (p.Thr160Ser)
n.527C>G
n.339+1818C>G
n.345C>G
n.363C>G
1g.155238155G=CA2481202738GBA1c.740C= (p.Thr247=)
c.593C= (p.Thr198=)
c.479C= (p.Thr160=)
n.527C=
n.339+1818C=
n.345C=
n.363C=
1g.155238155G>TCA1141696GBA1c.740C>A (p.Thr247Asn)
c.593C>A (p.Thr198Asn)
c.479C>A (p.Thr160Asn)
n.527C>A
n.339+1818C>A
n.345C>A
n.363C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155238159_155238172delCA2648252050GBA1c.727_740del (p.Ile243LeufsTer14)
c.580_593del (p.Ile194LeufsTer14)
c.466_479del (p.Ile156LeufsTer14)
n.514_527del
n.339+1805_339+1818del
n.332_345del
n.350_363del
 gnomAD v4
1g.155238156T>ACA342721367GBA1c.739A>T (p.Thr247Ser)
c.592A>T (p.Thr198Ser)
c.478A>T (p.Thr160Ser)
n.526A>T
n.339+1817A>T
n.344A>T
n.362A>T
1g.155238156T>CCA342721370GBA1c.739A>G (p.Thr247Ala)
c.592A>G (p.Thr198Ala)
c.478A>G (p.Thr160Ala)
n.526A>G
n.339+1817A>G
n.344A>G
n.362A>G
1g.155238156T>GCA342721373GBA1c.739A>C (p.Thr247Pro)
c.592A>C (p.Thr198Pro)
c.478A>C (p.Thr160Pro)
n.526A>C
n.339+1817A>C
n.344A>C
n.362A>C
1g.155238157C>ACA342721379GBA1c.738G>T (p.Gln246His)
c.591G>T (p.Gln197His)
c.477G>T (p.Gln159His)
n.525G>T
n.339+1816G>T
n.343G>T
n.361G>T
 gnomAD v4
1g.155238157C=CA2481202739GBA1c.738G= (p.Gln246=)
c.591G= (p.Gln197=)
c.477G= (p.Gln159=)
n.525G=
n.339+1816G=
n.343G=
n.361G=
1g.155238157C>GCA342721383GBA1c.738G>C (p.Gln246His)
c.591G>C (p.Gln197His)
c.477G>C (p.Gln159His)
n.525G>C
n.339+1816G>C
n.343G>C
n.361G>C
 dbSNP
1g.155238157C>TCA421025569GBA1c.738G>A (p.Gln246=)
c.591G>A (p.Gln197=)
c.477G>A (p.Gln159=)
n.525G>A
n.339+1816G>A
n.343G>A
n.361G>A
1g.155238158T>ACA342721388GBA1c.737A>T (p.Gln246Leu)
c.590A>T (p.Gln197Leu)
c.476A>T (p.Gln159Leu)
n.524A>T
n.339+1815A>T
n.342A>T
n.360A>T
1g.155238158T>CCA342721396GBA1c.737A>G (p.Gln246Arg)
c.590A>G (p.Gln197Arg)
c.476A>G (p.Gln159Arg)
n.524A>G
n.339+1815A>G
n.342A>G
n.360A>G
1g.155238158T>GCA342721394GBA1c.737A>C (p.Gln246Pro)
c.590A>C (p.Gln197Pro)
c.476A>C (p.Gln159Pro)
n.524A>C
n.339+1815A>C
n.342A>C
n.360A>C
1g.155238159G>ACA342721401GBA1c.736C>T (p.Gln246Ter)
c.589C>T (p.Gln197Ter)
c.475C>T (p.Gln159Ter)
n.523C>T
n.339+1814C>T
n.341C>T
n.359C>T
1g.155238159G>CCA342721407GBA1c.736C>G (p.Gln246Glu)
c.589C>G (p.Gln197Glu)
c.475C>G (p.Gln159Glu)
n.523C>G
n.339+1814C>G
n.341C>G
n.359C>G
1g.155238159G>TCA342721415GBA1c.736C>A (p.Gln246Lys)
c.589C>A (p.Gln197Lys)
c.475C>A (p.Gln159Lys)
n.523C>A
n.339+1814C>A
n.341C>A
n.359C>A
1g.155238160G>ACA421025570GBA1c.735C>T (p.His245=)
c.588C>T (p.His196=)
c.474C>T (p.His158=)
n.522C>T
n.339+1813C>T
n.340C>T
n.358C>T
1g.155238160G>CCA342721420GBA1c.735C>G (p.His245Gln)
c.588C>G (p.His196Gln)
c.474C>G (p.His158Gln)
n.522C>G
n.339+1813C>G
n.340C>G
n.358C>G
1g.155238160G>TCA342721423GBA1c.735C>A (p.His245Gln)
c.588C>A (p.His196Gln)
c.474C>A (p.His158Gln)
n.522C>A
n.339+1813C>A
n.340C>A
n.358C>A
1g.155238161T>ACA342721440GBA1c.734A>T (p.His245Leu)
c.587A>T (p.His196Leu)
c.473A>T (p.His158Leu)
n.521A>T
n.339+1812A>T
n.339A>T
n.357A>T
1g.155238161T>CCA342721445GBA1c.734A>G (p.His245Arg)
c.587A>G (p.His196Arg)
c.473A>G (p.His158Arg)
n.521A>G
n.339+1812A>G
n.339A>G
n.357A>G
 gnomAD v4
1g.155238161T>GCA342721452GBA1c.734A>C (p.His245Pro)
c.587A>C (p.His196Pro)
c.473A>C (p.His158Pro)
n.521A>C
n.339+1812A>C
n.339A>C
n.357A>C

Number of alleles fetched