| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611197G>A | CA376718679 | CHAT,SLC18A3 | c.457G>A (p.Val153Met) c.-69+1998G>A (n.-69+1998G>A) | dbSNP gnomAD v4 |
| 10 | g.49611197G>C | CA376718682 | CHAT,SLC18A3 | c.457G>C (p.Val153Leu) c.-69+1998G>C (n.-69+1998G>C) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49611197G= | CA1908793134 | CHAT,SLC18A3 | c.457G= (p.Val153=) c.-69+1998G= (n.-69+1998G=) | |
| 10 | g.49611197G>T | CA376718685 | CHAT,SLC18A3 | c.457G>T (p.Val153Leu) c.-69+1998G>T (n.-69+1998G>T) | gnomAD v4 |
| 10 | g.49611198T>A | CA376718690 | CHAT,SLC18A3 | c.458T>A (p.Val153Glu) c.-69+1999T>A (n.-69+1999T>A) | |
| 10 | g.49611198T>C | CA376718693 | CHAT,SLC18A3 | c.458T>C (p.Val153Ala) c.-69+1999T>C (n.-69+1999T>C) | |
| 10 | g.49611198T>G | CA376718688 | CHAT,SLC18A3 | c.458T>G (p.Val153Gly) c.-69+1999T>G (n.-69+1999T>G) | |
| 10 | g.49611199G>A | CA469791439 | CHAT,SLC18A3 | c.459G>A (p.Val153=) c.-69+2000G>A (n.-69+2000G>A) | |
| 10 | g.49611199G>C | CA469791441 | CHAT,SLC18A3 | c.459G>C (p.Val153=) c.-69+2000G>C (n.-69+2000G>C) | |
| 10 | g.49611199G= | CA1908793136 | CHAT,SLC18A3 | c.459G= (p.Val153=) c.-69+2000G= (n.-69+2000G=) | |
| 10 | g.49611199G>T | CA5496768 | CHAT,SLC18A3 | c.459G>T (p.Val153=) c.-69+2000G>T (n.-69+2000G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611200C>A | CA376718698 | CHAT,SLC18A3 | c.460C>A (p.Pro154Thr) c.-69+2001C>A (n.-69+2001C>A) | |
| 10 | g.49611200C>G | CA376718700 | CHAT,SLC18A3 | c.460C>G (p.Pro154Ala) c.-69+2001C>G (n.-69+2001C>G) | |
| 10 | g.49611200C>T | CA376718703 | CHAT,SLC18A3 | c.460C>T (p.Pro154Ser) c.-69+2001C>T (n.-69+2001C>T) | |
| 10 | g.49611201del | CA2574545083 | CHAT,SLC18A3 | c.461del (p.Pro154ArgfsTer3) c.-69+2002del (n.-69+2002del) | |
| 10 | g.49611201C>A | CA376718711 | CHAT,SLC18A3 | c.461C>A (p.Pro154Gln) c.-69+2002C>A (n.-69+2002C>A) | dbSNP |
| 10 | g.49611201C= | CA1908793138 | CHAT,SLC18A3 | c.461C= (p.Pro154=) c.-69+2002C= (n.-69+2002C=) | |
| 10 | g.49611201C>G | CA376718714 | CHAT,SLC18A3 | c.461C>G (p.Pro154Arg) c.-69+2002C>G (n.-69+2002C>G) | |
| 10 | g.49611201C>T | CA376718717 | CHAT,SLC18A3 | c.461C>T (p.Pro154Leu) c.-69+2002C>T (n.-69+2002C>T) | |
| 10 | g.49611202G>A | CA469791447 | CHAT,SLC18A3 | c.462G>A (p.Pro154=) c.-69+2003G>A (n.-69+2003G>A) | COSMIC |
| 10 | g.49611202G>C | CA469791451 | CHAT,SLC18A3 | c.462G>C (p.Pro154=) c.-69+2003G>C (n.-69+2003G>C) | |
| 10 | g.49611202G>T | CA469791445 | CHAT,SLC18A3 | c.462G>T (p.Pro154=) c.-69+2003G>T (n.-69+2003G>T) | gnomAD v4 |
| 10 | g.49611203C>A | CA376718720 | CHAT,SLC18A3 | c.463C>A (p.Leu155Met) c.-69+2004C>A (n.-69+2004C>A) | |
| 10 | g.49611203C>G | CA376718723 | CHAT,SLC18A3 | c.463C>G (p.Leu155Val) c.-69+2004C>G (n.-69+2004C>G) | |
| 10 | g.49611203C>T | CA469791458 | CHAT,SLC18A3 | c.463C>T (p.Leu155=) c.-69+2004C>T (n.-69+2004C>T) | |
| 10 | g.49611204T>A | CA376718726 | CHAT,SLC18A3 | c.464T>A (p.Leu155Gln) c.-69+2005T>A (n.-69+2005T>A) | |
| 10 | g.49611204T>C | CA376718728 | CHAT,SLC18A3 | c.464T>C (p.Leu155Pro) c.-69+2005T>C (n.-69+2005T>C) | |
| 10 | g.49611204T>G | CA376718730 | CHAT,SLC18A3 | c.464T>G (p.Leu155Arg) c.-69+2005T>G (n.-69+2005T>G) | |
| 10 | g.49611205G>A | CA469791465 | CHAT,SLC18A3 | c.465G>A (p.Leu155=) c.-69+2006G>A (n.-69+2006G>A) | gnomAD v4 |
| 10 | g.49611205G>C | CA469791461 | CHAT,SLC18A3 | c.465G>C (p.Leu155=) c.-69+2006G>C (n.-69+2006G>C) | |
| 10 | g.49611205G= | CA1908793140 | CHAT,SLC18A3 | c.465G= (p.Leu155=) c.-69+2006G= (n.-69+2006G=) | |
| 10 | g.49611205G>T | CA469791463 | CHAT,SLC18A3 | c.465G>T (p.Leu155=) c.-69+2006G>T (n.-69+2006G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611206C>A | CA376718737 | CHAT,SLC18A3 | c.466C>A (p.Leu156Met) c.-69+2007C>A (n.-69+2007C>A) | |
| 10 | g.49611206C>G | CA376718733 | CHAT,SLC18A3 | c.466C>G (p.Leu156Val) c.-69+2007C>G (n.-69+2007C>G) | |
| 10 | g.49611206C>T | CA469791466 | CHAT,SLC18A3 | c.466C>T (p.Leu156=) c.-69+2007C>T (n.-69+2007C>T) | |
| 10 | g.49611207T>A | CA376718740 | CHAT,SLC18A3 | c.467T>A (p.Leu156Gln) c.-69+2008T>A (n.-69+2008T>A) | |
| 10 | g.49611207T>C | CA206621007 | CHAT,SLC18A3 | c.467T>C (p.Leu156Pro) c.-69+2008T>C (n.-69+2008T>C) | dbSNP |
| 10 | g.49611207T>G | CA376718755 | CHAT,SLC18A3 | c.467T>G (p.Leu156Arg) c.-69+2008T>G (n.-69+2008T>G) | |
| 10 | g.49611207T= | CA1908793143 | CHAT,SLC18A3 | c.467T= (p.Leu156=) c.-69+2008T= (n.-69+2008T=) | |
| 10 | g.49611208G>A | CA469791473 | CHAT,SLC18A3 | c.468G>A (p.Leu156=) c.-69+2009G>A (n.-69+2009G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611208G>C | CA469791471 | CHAT,SLC18A3 | c.468G>C (p.Leu156=) c.-69+2009G>C (n.-69+2009G>C) | gnomAD v4 |
| 10 | g.49611208G= | CA1908793144 | CHAT,SLC18A3 | c.468G= (p.Leu156=) c.-69+2009G= (n.-69+2009G=) | |
| 10 | g.49611208G>T | CA469791472 | CHAT,SLC18A3 | c.468G>T (p.Leu156=) c.-69+2009G>T (n.-69+2009G>T) | gnomAD v4 |
| 10 | g.49611209A>C | CA376718760 | CHAT,SLC18A3 | c.469A>C (p.Ile157Leu) c.-69+2010A>C (n.-69+2010A>C) | |
| 10 | g.49611209A>G | CA376718763 | CHAT,SLC18A3 | c.469A>G (p.Ile157Val) c.-69+2010A>G (n.-69+2010A>G) | |
| 10 | g.49611209A>T | CA376718765 | CHAT,SLC18A3 | c.469A>T (p.Ile157Phe) c.-69+2010A>T (n.-69+2010A>T) | |
| 10 | g.49611210T>A | CA376718768 | CHAT,SLC18A3 | c.470T>A (p.Ile157Asn) c.-69+2011T>A (n.-69+2011T>A) | |
| 10 | g.49611210T>C | CA376718771 | CHAT,SLC18A3 | c.470T>C (p.Ile157Thr) c.-69+2011T>C (n.-69+2011T>C) | |
| 10 | g.49611210T>G | CA376718773 | CHAT,SLC18A3 | c.470T>G (p.Ile157Ser) c.-69+2011T>G (n.-69+2011T>G) | |
| 10 | g.49611211C>A | CA469791482 | CHAT,SLC18A3 | c.471C>A (p.Ile157=) c.-69+2012C>A (n.-69+2012C>A) | gnomAD v4 |