Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155238152del | CA2586967495 | GBA1 | c.745del (p.Ala249ProfsTer5) c.598del (p.Ala200ProfsTer5) c.484del (p.Ala162ProfsTer5) n.532del n.339+1823del n.350del n.368del | |
1 | g.155238152C>A | CA342721296 | GBA1 | c.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 | |
1 | g.155238152C= | CA2481202736 | GBA1 | c.743G= (p.Trp248=) c.596G= (p.Trp199=) c.482G= (p.Trp161=) n.530G= n.339+1821G= n.348G= n.366G= | |
1 | g.155238152C>G | CA342721299 | GBA1 | c.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 | |
1 | g.155238152C>T | CA342721307 | GBA1 | c.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 |
1 | g.155238153A>C | CA342721311 | GBA1 | c.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 | |
1 | g.155238153A>G | CA342721315 | GBA1 | c.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 | |
1 | g.155238153A>T | CA342721325 | GBA1 | c.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 | |
1 | g.155238154G>A | CA421025566 | GBA1 | c.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 |
1 | g.155238154G>C | CA421025567 | GBA1 | c.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 | |
1 | g.155238154G= | CA2481202737 | GBA1 | c.741C= (p.Thr247=) c.594C= (p.Thr198=) c.480C= (p.Thr160=) n.528C= n.339+1819C= n.346C= n.364C= | |
1 | g.155238154G>T | CA421025568 | GBA1 | c.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 | |
1 | g.155238155del | CA2586967496 | GBA1 | c.741del (p.Trp248GlyfsTer6) c.594del (p.Trp199GlyfsTer6) c.480del (p.Trp161GlyfsTer6) n.528del n.339+1819del n.346del n.364del | |
1 | g.155238155G>A | CA342721353 | GBA1 | c.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 |
1 | g.155238155G>C | CA342721328 | GBA1 | c.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 | |
1 | g.155238155G= | CA2481202738 | GBA1 | c.740C= (p.Thr247=) c.593C= (p.Thr198=) c.479C= (p.Thr160=) n.527C= n.339+1818C= n.345C= n.363C= | |
1 | g.155238155G>T | CA1141696 | GBA1 | c.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 |
1 | g.155238159_155238172del | CA2648252050 | GBA1 | c.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 |
1 | g.155238156T>A | CA342721367 | GBA1 | c.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 | |
1 | g.155238156T>C | CA342721370 | GBA1 | c.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 | |
1 | g.155238156T>G | CA342721373 | GBA1 | c.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 | |
1 | g.155238157C>A | CA342721379 | GBA1 | c.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 |
1 | g.155238157C= | CA2481202739 | GBA1 | c.738G= (p.Gln246=) c.591G= (p.Gln197=) c.477G= (p.Gln159=) n.525G= n.339+1816G= n.343G= n.361G= | |
1 | g.155238157C>G | CA342721383 | GBA1 | c.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 |
1 | g.155238157C>T | CA421025569 | GBA1 | c.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 | |
1 | g.155238158T>A | CA342721388 | GBA1 | c.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 | |
1 | g.155238158T>C | CA342721396 | GBA1 | c.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 | |
1 | g.155238158T>G | CA342721394 | GBA1 | c.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 | |
1 | g.155238159G>A | CA342721401 | GBA1 | c.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 | |
1 | g.155238159G>C | CA342721407 | GBA1 | c.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 | |
1 | g.155238159G>T | CA342721415 | GBA1 | c.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 | |
1 | g.155238160G>A | CA421025570 | GBA1 | c.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 | |
1 | g.155238160G>C | CA342721420 | GBA1 | c.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 | |
1 | g.155238160G>T | CA342721423 | GBA1 | c.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 | |
1 | g.155238161T>A | CA342721440 | GBA1 | c.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 | |
1 | g.155238161T>C | CA342721445 | GBA1 | c.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 |
1 | g.155238161T>G | CA342721452 | GBA1 | c.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 | |
1 | g.155238162G>A | CA342721457 | GBA1 | c.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 | |
1 | g.155238162G>C | CA342721461 | GBA1 | c.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 | |
1 | g.155238162G>T | CA342721464 | GBA1 | c.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 | |
1 | g.155238163G>A | CA421025571 | GBA1 | c.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 |
1 | g.155238163G>C | CA342721473 | GBA1 | c.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 | |
1 | g.155238163G= | CA2481202740 | GBA1 | c.732C= (p.Tyr244=) c.585C= (p.Tyr195=) c.471C= (p.Tyr157=) n.519C= n.339+1810C= n.337C= n.355C= | |
1 | g.155238163G>T | CA342721477 | GBA1 | c.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 | |
1 | g.155238164T>A | CA342721481 | GBA1 | c.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 | |
1 | g.155238164T>C | CA30895499 | GBA1 | c.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 |
1 | g.155238164T>G | CA342721483 | GBA1 | c.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 | |
1 | g.155238164T= | CA1140972415 | GBA1 | c.731A= (p.Tyr244=) c.584A= (p.Tyr195=) c.470A= (p.Tyr157=) n.518A= n.339+1809A= n.336A= n.354A= | |
1 | g.155238165A= | CA2481202741 | GBA1 | c.730T= (p.Tyr244=) c.583T= (p.Tyr195=) c.469T= (p.Tyr157=) n.517T= n.339+1808T= n.335T= n.353T= | |
1 | g.155238165A>C | CA342721492 | GBA1 | c.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 |