Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.155238162G>ACA342721457GBA1c.733C>T (p.His245Tyr)
c.586C>T (p.His196Tyr)
c.472C>T (p.His158Tyr)
n.520C>T
n.339+1811C>T
n.338C>T
n.356C>T
1g.155238162G>CCA342721461GBA1c.733C>G (p.His245Asp)
c.586C>G (p.His196Asp)
c.472C>G (p.His158Asp)
n.520C>G
n.339+1811C>G
n.338C>G
n.356C>G
1g.155238162G>TCA342721464GBA1c.733C>A (p.His245Asn)
c.586C>A (p.His196Asn)
c.472C>A (p.His158Asn)
n.520C>A
n.339+1811C>A
n.338C>A
n.356C>A
1g.155238163G>ACA421025571GBA1c.732C>T (p.Tyr244=)
c.585C>T (p.Tyr195=)
c.471C>T (p.Tyr157=)
n.519C>T
n.339+1810C>T
n.337C>T
n.355C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155238163G>CCA342721473GBA1c.732C>G (p.Tyr244Ter)
c.585C>G (p.Tyr195Ter)
c.471C>G (p.Tyr157Ter)
n.519C>G
n.339+1810C>G
n.337C>G
n.355C>G
1g.155238163G=CA2481202740GBA1c.732C= (p.Tyr244=)
c.585C= (p.Tyr195=)
c.471C= (p.Tyr157=)
n.519C=
n.339+1810C=
n.337C=
n.355C=
1g.155238163G>TCA342721477GBA1c.732C>A (p.Tyr244Ter)
c.585C>A (p.Tyr195Ter)
c.471C>A (p.Tyr157Ter)
n.519C>A
n.339+1810C>A
n.337C>A
n.355C>A
1g.155238164T>ACA342721481GBA1c.731A>T (p.Tyr244Phe)
c.584A>T (p.Tyr195Phe)
c.470A>T (p.Tyr157Phe)
n.518A>T
n.339+1809A>T
n.336A>T
n.354A>T
1g.155238164T>CCA30895499GBA1c.731A>G (p.Tyr244Cys)
c.584A>G (p.Tyr195Cys)
c.470A>G (p.Tyr157Cys)
n.518A>G
n.339+1809A>G
n.336A>G
n.354A>G
 dbSNP gnomAD v4
1g.155238164T>GCA342721483GBA1c.731A>C (p.Tyr244Ser)
c.584A>C (p.Tyr195Ser)
c.470A>C (p.Tyr157Ser)
n.518A>C
n.339+1809A>C
n.336A>C
n.354A>C
1g.155238164T=CA1140972415GBA1c.731A= (p.Tyr244=)
c.584A= (p.Tyr195=)
c.470A= (p.Tyr157=)
n.518A=
n.339+1809A=
n.336A=
n.354A=
1g.155238165A=CA2481202741GBA1c.730T= (p.Tyr244=)
c.583T= (p.Tyr195=)
c.469T= (p.Tyr157=)
n.517T=
n.339+1808T=
n.335T=
n.353T=
1g.155238165A>CCA342721492GBA1c.730T>G (p.Tyr244Asp)
c.583T>G (p.Tyr195Asp)
c.469T>G (p.Tyr157Asp)
n.517T>G
n.339+1808T>G
n.335T>G
n.353T>G
1g.155238165A>GCA342721506GBA1c.730T>C (p.Tyr244His)
c.583T>C (p.Tyr195His)
c.469T>C (p.Tyr157His)
n.517T>C
n.339+1808T>C
n.335T>C
n.353T>C
 ClinVar dbSNP
1g.155238165A>TCA342721496GBA1c.730T>A (p.Tyr244Asn)
c.583T>A (p.Tyr195Asn)
c.469T>A (p.Tyr157Asn)
n.517T>A
n.339+1808T>A
n.335T>A
n.353T>A
 gnomAD v4
1g.155238166G>ACA421025572GBA1c.729C>T (p.Ile243=)
c.582C>T (p.Ile194=)
c.468C>T (p.Ile156=)
n.516C>T
n.339+1807C>T
n.334C>T
n.352C>T
1g.155238166G>CCA342721510GBA1c.729C>G (p.Ile243Met)
c.582C>G (p.Ile194Met)
c.468C>G (p.Ile156Met)
n.516C>G
n.339+1807C>G
n.334C>G
n.352C>G
1g.155238166G>TCA421025573GBA1c.729C>A (p.Ile243=)
c.582C>A (p.Ile194=)
c.468C>A (p.Ile156=)
n.516C>A
n.339+1807C>A
n.334C>A
n.352C>A

Number of alleles fetched