Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611177T>A | CA376718564 | CHAT,SLC18A3 | c.437T>A (p.Ile146Asn) c.-69+1978T>A (n.-69+1978T>A) | |
10 | g.49611177T>C | CA376718566 | CHAT,SLC18A3 | c.437T>C (p.Ile146Thr) c.-69+1978T>C (n.-69+1978T>C) | gnomAD v4 |
10 | g.49611177T>G | CA376718568 | CHAT,SLC18A3 | c.437T>G (p.Ile146Ser) c.-69+1978T>G (n.-69+1978T>G) | |
10 | g.49611178C>A | CA469791384 | CHAT,SLC18A3 | c.438C>A (p.Ile146=) c.-69+1979C>A (n.-69+1979C>A) | |
10 | g.49611178C= | CA1908793096 | CHAT,SLC18A3 | c.438C= (p.Ile146=) c.-69+1979C= (n.-69+1979C=) | |
10 | g.49611178C>G | CA376718570 | CHAT,SLC18A3 | c.438C>G (p.Ile146Met) c.-69+1979C>G (n.-69+1979C>G) | |
10 | g.49611178C>T | CA5496764 | CHAT,SLC18A3 | c.438C>T (p.Ile146=) c.-69+1979C>T (n.-69+1979C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611179G>A | CA376718574 | CHAT,SLC18A3 | c.439G>A (p.Asp147Asn) c.-69+1980G>A (n.-69+1980G>A) | |
10 | g.49611179G>C | CA376718575 | CHAT,SLC18A3 | c.439G>C (p.Asp147His) c.-69+1980G>C (n.-69+1980G>C) | |
10 | g.49611179G>T | CA376718577 | CHAT,SLC18A3 | c.439G>T (p.Asp147Tyr) c.-69+1980G>T (n.-69+1980G>T) | gnomAD v4 |
10 | g.49611180A>C | CA376718584 | CHAT,SLC18A3 | c.440A>C (p.Asp147Ala) c.-69+1981A>C (n.-69+1981A>C) | |
10 | g.49611180A>G | CA376718580 | CHAT,SLC18A3 | c.440A>G (p.Asp147Gly) c.-69+1981A>G (n.-69+1981A>G) | |
10 | g.49611180A>T | CA376718582 | CHAT,SLC18A3 | c.440A>T (p.Asp147Val) c.-69+1981A>T (n.-69+1981A>T) | |
10 | g.49611181C>A | CA376718586 | CHAT,SLC18A3 | c.441C>A (p.Asp147Glu) c.-69+1982C>A (n.-69+1982C>A) | |
10 | g.49611181C>G | CA376718587 | CHAT,SLC18A3 | c.441C>G (p.Asp147Glu) c.-69+1982C>G (n.-69+1982C>G) | |
10 | g.49611181C>T | CA469791391 | CHAT,SLC18A3 | c.441C>T (p.Asp147=) c.-69+1982C>T (n.-69+1982C>T) | |
10 | g.49611182C>A | CA5496766 | CHAT,SLC18A3 | c.442C>A (p.Arg148Ser) c.-69+1983C>A (n.-69+1983C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611182C= | CA1908793098 | CHAT,SLC18A3 | c.442C= (p.Arg148=) c.-69+1983C= (n.-69+1983C=) | |
10 | g.49611182C>G | CA376718588 | CHAT,SLC18A3 | c.442C>G (p.Arg148Gly) c.-69+1983C>G (n.-69+1983C>G) | |
10 | g.49611182C>T | CA5496765 | CHAT,SLC18A3 | c.442C>T (p.Arg148Cys) c.-69+1983C>T (n.-69+1983C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611183G>A | CA376718590 | CHAT,SLC18A3 | c.443G>A (p.Arg148His) c.-69+1984G>A (n.-69+1984G>A) | dbSNP gnomAD v4 COSMIC |
10 | g.49611183G>C | CA376718592 | CHAT,SLC18A3 | c.443G>C (p.Arg148Pro) c.-69+1984G>C (n.-69+1984G>C) | |
10 | g.49611183G= | CA1908793100 | CHAT,SLC18A3 | c.443G= (p.Arg148=) c.-69+1984G= (n.-69+1984G=) | |
10 | g.49611183G>T | CA376718593 | CHAT,SLC18A3 | c.443G>T (p.Arg148Leu) c.-69+1984G>T (n.-69+1984G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611184C>A | CA469791400 | CHAT,SLC18A3 | c.444C>A (p.Arg148=) c.-69+1985C>A (n.-69+1985C>A) | |
10 | g.49611184C>G | CA469791399 | CHAT,SLC18A3 | c.444C>G (p.Arg148=) c.-69+1985C>G (n.-69+1985C>G) | |
10 | g.49611184C>T | CA469791398 | CHAT,SLC18A3 | c.444C>T (p.Arg148=) c.-69+1985C>T (n.-69+1985C>T) | |
10 | g.49611185A= | CA1908793104 | CHAT,SLC18A3 | c.445A= (p.Met149=) c.-69+1986A= (n.-69+1986A=) | |
10 | g.49611185A>C | CA376718596 | CHAT,SLC18A3 | c.445A>C (p.Met149Leu) c.-69+1986A>C (n.-69+1986A>C) | dbSNP |
10 | g.49611185A>G | CA376718599 | CHAT,SLC18A3 | c.445A>G (p.Met149Val) c.-69+1986A>G (n.-69+1986A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611185A>T | CA376718601 | CHAT,SLC18A3 | c.445A>T (p.Met149Leu) c.-69+1986A>T (n.-69+1986A>T) | |
10 | g.49611186T>A | CA376718607 | CHAT,SLC18A3 | c.446T>A (p.Met149Lys) c.-69+1987T>A (n.-69+1987T>A) | gnomAD v4 |
10 | g.49611186T>C | CA376718605 | CHAT,SLC18A3 | c.446T>C (p.Met149Thr) c.-69+1987T>C (n.-69+1987T>C) | gnomAD v4 |
10 | g.49611186T>G | CA376718603 | CHAT,SLC18A3 | c.446T>G (p.Met149Arg) c.-69+1987T>G (n.-69+1987T>G) | |
10 | g.49611187G>A | CA376718608 | CHAT,SLC18A3 | c.447G>A (p.Met149Ile) c.-69+1988G>A (n.-69+1988G>A) | |
10 | g.49611187G>C | CA376718610 | CHAT,SLC18A3 | c.447G>C (p.Met149Ile) c.-69+1988G>C (n.-69+1988G>C) | |
10 | g.49611187G>T | CA376718609 | CHAT,SLC18A3 | c.447G>T (p.Met149Ile) c.-69+1988G>T (n.-69+1988G>T) | |
10 | g.49611188A= | CA1908793107 | CHAT,SLC18A3 | c.448A= (p.Ser150=) c.-69+1989A= (n.-69+1989A=) | |
10 | g.49611188A>C | CA376718613 | CHAT,SLC18A3 | c.448A>C (p.Ser150Arg) c.-69+1989A>C (n.-69+1989A>C) | |
10 | g.49611188A>G | CA376718618 | CHAT,SLC18A3 | c.448A>G (p.Ser150Gly) c.-69+1989A>G (n.-69+1989A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611188A>T | CA376718614 | CHAT,SLC18A3 | c.448A>T (p.Ser150Cys) c.-69+1989A>T (n.-69+1989A>T) | |
10 | g.49611189G>A | CA376718620 | CHAT,SLC18A3 | c.449G>A (p.Ser150Asn) c.-69+1990G>A (n.-69+1990G>A) | dbSNP gnomAD v4 |
10 | g.49611189G>C | CA376718622 | CHAT,SLC18A3 | c.449G>C (p.Ser150Thr) c.-69+1990G>C (n.-69+1990G>C) | |
10 | g.49611189G>T | CA376718624 | CHAT,SLC18A3 | c.449G>T (p.Ser150Ile) c.-69+1990G>T (n.-69+1990G>T) | |
10 | g.49611190C>A | CA376718627 | CHAT,SLC18A3 | c.450C>A (p.Ser150Arg) c.-69+1991C>A (n.-69+1991C>A) | gnomAD v4 |
10 | g.49611190C>G | CA376718629 | CHAT,SLC18A3 | c.450C>G (p.Ser150Arg) c.-69+1991C>G (n.-69+1991C>G) | |
10 | g.49611190C>T | CA469791415 | CHAT,SLC18A3 | c.450C>T (p.Ser150=) c.-69+1991C>T (n.-69+1991C>T) | |
10 | g.49611191T>A | CA376718631 | CHAT,SLC18A3 | c.451T>A (p.Tyr151Asn) c.-69+1992T>A (n.-69+1992T>A) | |
10 | g.49611191T>C | CA376718635 | CHAT,SLC18A3 | c.451T>C (p.Tyr151His) c.-69+1992T>C (n.-69+1992T>C) | |
10 | g.49611191T>G | CA376718636 | CHAT,SLC18A3 | c.451T>G (p.Tyr151Asp) c.-69+1992T>G (n.-69+1992T>G) | |
10 | g.49611192A= | CA1908793110 | CHAT,SLC18A3 | c.452A= (p.Tyr151=) c.-69+1993A= (n.-69+1993A=) | |
10 | g.49611192A>C | CA376718638 | CHAT,SLC18A3 | c.452A>C (p.Tyr151Ser) c.-69+1993A>C (n.-69+1993A>C) | |
10 | g.49611192A>G | CA376718643 | CHAT,SLC18A3 | c.452A>G (p.Tyr151Cys) c.-69+1993A>G (n.-69+1993A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611192A>T | CA376718645 | CHAT,SLC18A3 | c.452A>T (p.Tyr151Phe) c.-69+1993A>T (n.-69+1993A>T) | |
10 | g.49611193C>A | CA376718651 | CHAT,SLC18A3 | c.453C>A (p.Tyr151Ter) c.-69+1994C>A (n.-69+1994C>A) | |
10 | g.49611193C= | CA1908793117 | CHAT,SLC18A3 | c.453C= (p.Tyr151=) c.-69+1994C= (n.-69+1994C=) | |
10 | g.49611193C>G | CA376718648 | CHAT,SLC18A3 | c.453C>G (p.Tyr151Ter) c.-69+1994C>G (n.-69+1994C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611193C>T | CA469791418 | CHAT,SLC18A3 | c.453C>T (p.Tyr151=) c.-69+1994C>T (n.-69+1994C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611194G>A | CA376718654 | CHAT,SLC18A3 | c.454G>A (p.Asp152Asn) c.-69+1995G>A (n.-69+1995G>A) | |
10 | g.49611194G>C | CA376718657 | CHAT,SLC18A3 | c.454G>C (p.Asp152His) c.-69+1995G>C (n.-69+1995G>C) | |
10 | g.49611194G= | CA1908793121 | CHAT,SLC18A3 | c.454G= (p.Asp152=) c.-69+1995G= (n.-69+1995G=) | |
10 | g.49611194G>T | CA5496767 | CHAT,SLC18A3 | c.454G>T (p.Asp152Tyr) c.-69+1995G>T (n.-69+1995G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611195A>C | CA376718662 | CHAT,SLC18A3 | c.455A>C (p.Asp152Ala) c.-69+1996A>C (n.-69+1996A>C) | |
10 | g.49611195A>G | CA376718664 | CHAT,SLC18A3 | c.455A>G (p.Asp152Gly) c.-69+1996A>G (n.-69+1996A>G) | |
10 | g.49611195A>T | CA376718668 | CHAT,SLC18A3 | c.455A>T (p.Asp152Val) c.-69+1996A>T (n.-69+1996A>T) | |
10 | g.49611196C>A | CA376718671 | CHAT,SLC18A3 | c.456C>A (p.Asp152Glu) c.-69+1997C>A (n.-69+1997C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611196C= | CA1908793126 | CHAT,SLC18A3 | c.456C= (p.Asp152=) c.-69+1997C= (n.-69+1997C=) | |
10 | g.49611196C>G | CA376718674 | CHAT,SLC18A3 | c.456C>G (p.Asp152Glu) c.-69+1997C>G (n.-69+1997C>G) | gnomAD v4 |
10 | g.49611196C>T | CA469791428 | CHAT,SLC18A3 | c.456C>T (p.Asp152=) c.-69+1997C>T (n.-69+1997C>T) | COSMIC |
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.49611198dup | CA2843219618 | CHAT,SLC18A3 | c.458dup (p.Pro154AlafsTer?) c.-69+1999dup (n.-69+1999dup) | |
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 |
10 | g.49611211C>G | CA376718776 | CHAT,SLC18A3 | c.471C>G (p.Ile157Met) c.-69+2012C>G (n.-69+2012C>G) | |
10 | g.49611211C>T | CA469791484 | CHAT,SLC18A3 | c.471C>T (p.Ile157=) c.-69+2012C>T (n.-69+2012C>T) | gnomAD v4 |
10 | g.49611212G>A | CA376718778 | CHAT,SLC18A3 | c.472G>A (p.Gly158Ser) c.-69+2013G>A (n.-69+2013G>A) | |
10 | g.49611212G>C | CA376718779 | CHAT,SLC18A3 | c.472G>C (p.Gly158Arg) c.-69+2013G>C (n.-69+2013G>C) | |
10 | g.49611212G>T | CA376718781 | CHAT,SLC18A3 | c.472G>T (p.Gly158Cys) c.-69+2013G>T (n.-69+2013G>T) | |
10 | g.49611213G>A | CA376718787 | CHAT,SLC18A3 | c.473G>A (p.Gly158Asp) c.-69+2014G>A (n.-69+2014G>A) | |
10 | g.49611213G>C | CA376718785 | CHAT,SLC18A3 | c.473G>C (p.Gly158Ala) c.-69+2014G>C (n.-69+2014G>C) | |
10 | g.49611213G>T | CA376718783 | CHAT,SLC18A3 | c.473G>T (p.Gly158Val) c.-69+2014G>T (n.-69+2014G>T) | |
10 | g.49611214C>A | CA469791500 | CHAT,SLC18A3 | c.474C>A (p.Gly158=) c.-69+2015C>A (n.-69+2015C>A) | |
10 | g.49611214C>G | CA469791497 | CHAT,SLC18A3 | c.474C>G (p.Gly158=) c.-69+2015C>G (n.-69+2015C>G) | |
10 | g.49611214C>T | CA469791501 | CHAT,SLC18A3 | c.474C>T (p.Gly158=) c.-69+2015C>T (n.-69+2015C>T) | |
10 | g.49611215C>A | CA376718790 | CHAT,SLC18A3 | c.475C>A (p.Leu159Met) c.-69+2016C>A (n.-69+2016C>A) | |
10 | g.49611215C>G | CA376718792 | CHAT,SLC18A3 | c.475C>G (p.Leu159Val) c.-69+2016C>G (n.-69+2016C>G) | |
10 | g.49611215C>T | CA469791504 | CHAT,SLC18A3 | c.475C>T (p.Leu159=) c.-69+2016C>T (n.-69+2016C>T) | |
10 | g.49611216T>A | CA376718793 | CHAT,SLC18A3 | c.476T>A (p.Leu159Gln) c.-69+2017T>A (n.-69+2017T>A) | |
10 | g.49611216T>C | CA376718796 | CHAT,SLC18A3 | c.476T>C (p.Leu159Pro) c.-69+2017T>C (n.-69+2017T>C) | |
10 | g.49611216T>G | CA376718798 | CHAT,SLC18A3 | c.476T>G (p.Leu159Arg) c.-69+2017T>G (n.-69+2017T>G) | gnomAD v4 |
10 | g.49611217G>A | CA469791512 | CHAT,SLC18A3 | c.477G>A (p.Leu159=) c.-69+2018G>A (n.-69+2018G>A) | |
10 | g.49611217G>C | CA469791513 | CHAT,SLC18A3 | c.477G>C (p.Leu159=) c.-69+2018G>C (n.-69+2018G>C) | gnomAD v4 |
10 | g.49611217G>T | CA469791507 | CHAT,SLC18A3 | c.477G>T (p.Leu159=) c.-69+2018G>T (n.-69+2018G>T) | |
10 | g.49611218G>A | CA376718800 | CHAT,SLC18A3 | c.478G>A (p.Gly160Ser) c.-69+2019G>A (n.-69+2019G>A) | |
10 | g.49611218G>C | CA376718803 | CHAT,SLC18A3 | c.478G>C (p.Gly160Arg) c.-69+2019G>C (n.-69+2019G>C) | |
10 | g.49611218G>T | CA376718804 | CHAT,SLC18A3 | c.478G>T (p.Gly160Cys) c.-69+2019G>T (n.-69+2019G>T) | |
10 | g.49611219G>A | CA5496769 | CHAT,SLC18A3 | c.479G>A (p.Gly160Asp) c.-69+2020G>A (n.-69+2020G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611219G>C | CA376718807 | CHAT,SLC18A3 | c.479G>C (p.Gly160Ala) c.-69+2020G>C (n.-69+2020G>C) | |
10 | g.49611219G= | CA1908793146 | CHAT,SLC18A3 | c.479G= (p.Gly160=) c.-69+2020G= (n.-69+2020G=) | |
10 | g.49611219G>T | CA376718810 | CHAT,SLC18A3 | c.479G>T (p.Gly160Val) c.-69+2020G>T (n.-69+2020G>T) | |
10 | g.49611219_49611220delinsTT | CA2573145177 | CHAT,SLC18A3 | c.479_480delinsTT (p.Gly160Val) c.-69+2020_-69+2021delinsTT (n.-69+2020_-69+2021delinsTT) | ClinVar dbSNP |
10 | g.49611220C>A | CA469791526 | CHAT,SLC18A3 | c.480C>A (p.Gly160=) c.-69+2021C>A (n.-69+2021C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611220C= | CA1908793149 | CHAT,SLC18A3 | c.480C= (p.Gly160=) c.-69+2021C= (n.-69+2021C=) | |
10 | g.49611220C>G | CA469791528 | CHAT,SLC18A3 | c.480C>G (p.Gly160=) c.-69+2021C>G (n.-69+2021C>G) | gnomAD v4 |
10 | g.49611220C>T | CA469791527 | CHAT,SLC18A3 | c.480C>T (p.Gly160=) c.-69+2021C>T (n.-69+2021C>T) | COSMIC |
10 | g.49611221G>A | CA376718812 | CHAT,SLC18A3 | c.481G>A (p.Val161Ile) c.-69+2022G>A (n.-69+2022G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611221G>C | CA376718816 | CHAT,SLC18A3 | c.481G>C (p.Val161Leu) c.-69+2022G>C (n.-69+2022G>C) | |
10 | g.49611221G= | CA1908793150 | CHAT,SLC18A3 | c.481G= (p.Val161=) c.-69+2022G= (n.-69+2022G=) | |
10 | g.49611221G>T | CA376718818 | CHAT,SLC18A3 | c.481G>T (p.Val161Phe) c.-69+2022G>T (n.-69+2022G>T) | dbSNP |
10 | g.49611222T>A | CA376718824 | CHAT,SLC18A3 | c.482T>A (p.Val161Asp) c.-69+2023T>A (n.-69+2023T>A) | |
10 | g.49611222T>C | CA376718822 | CHAT,SLC18A3 | c.482T>C (p.Val161Ala) c.-69+2023T>C (n.-69+2023T>C) | |
10 | g.49611222T>G | CA376718820 | CHAT,SLC18A3 | c.482T>G (p.Val161Gly) c.-69+2023T>G (n.-69+2023T>G) | |
10 | g.49611223C>A | CA469791539 | CHAT,SLC18A3 | c.483C>A (p.Val161=) c.-69+2024C>A (n.-69+2024C>A) | gnomAD v4 |
10 | g.49611223C>G | CA469791543 | CHAT,SLC18A3 | c.483C>G (p.Val161=) c.-69+2024C>G (n.-69+2024C>G) | |
10 | g.49611223C>T | CA469791537 | CHAT,SLC18A3 | c.483C>T (p.Val161=) c.-69+2024C>T (n.-69+2024C>T) | COSMIC |
10 | g.49611224A= | CA1908793153 | CHAT,SLC18A3 | c.484A= (p.Met162=) c.-69+2025A= (n.-69+2025A=) | |
10 | g.49611224A>C | CA376718826 | CHAT,SLC18A3 | c.484A>C (p.Met162Leu) c.-69+2025A>C (n.-69+2025A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611224A>G | CA376718828 | CHAT,SLC18A3 | c.484A>G (p.Met162Val) c.-69+2025A>G (n.-69+2025A>G) | dbSNP gnomAD v4 |
10 | g.49611224A>T | CA376718830 | CHAT,SLC18A3 | c.484A>T (p.Met162Leu) c.-69+2025A>T (n.-69+2025A>T) | |
10 | g.49611225T>A | CA376718833 | CHAT,SLC18A3 | c.485T>A (p.Met162Lys) c.-69+2026T>A (n.-69+2026T>A) | |
10 | g.49611225T>C | CA376718835 | CHAT,SLC18A3 | c.485T>C (p.Met162Thr) c.-69+2026T>C (n.-69+2026T>C) | gnomAD v4 |
10 | g.49611225T>G | CA376718837 | CHAT,SLC18A3 | c.485T>G (p.Met162Arg) c.-69+2026T>G (n.-69+2026T>G) | |
10 | g.49611226G>A | CA376718839 | CHAT,SLC18A3 | c.486G>A (p.Met162Ile) c.-69+2027G>A (n.-69+2027G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611226G>C | CA376718840 | CHAT,SLC18A3 | c.486G>C (p.Met162Ile) c.-69+2027G>C (n.-69+2027G>C) | |
10 | g.49611226G= | CA1908793159 | CHAT,SLC18A3 | c.486G= (p.Met162=) c.-69+2027G= (n.-69+2027G=) | |
10 | g.49611226G>T | CA206621014 | CHAT,SLC18A3 | c.486G>T (p.Met162Ile) c.-69+2027G>T (n.-69+2027G>T) | dbSNP gnomAD v4 |
10 | g.49611227T>A | CA376718844 | CHAT,SLC18A3 | c.487T>A (p.Phe163Ile) c.-69+2028T>A (n.-69+2028T>A) | |
10 | g.49611227T>C | CA376718847 | CHAT,SLC18A3 | c.487T>C (p.Phe163Leu) c.-69+2028T>C (n.-69+2028T>C) | gnomAD v4 |
10 | g.49611227T>G | CA376718849 | CHAT,SLC18A3 | c.487T>G (p.Phe163Val) c.-69+2028T>G (n.-69+2028T>G) | |
10 | g.49611228T>A | CA376718856 | CHAT,SLC18A3 | c.488T>A (p.Phe163Tyr) c.-69+2029T>A (n.-69+2029T>A) | |
10 | g.49611228T>C | CA376718854 | CHAT,SLC18A3 | c.488T>C (p.Phe163Ser) c.-69+2029T>C (n.-69+2029T>C) | |
10 | g.49611228T>G | CA376718852 | CHAT,SLC18A3 | c.488T>G (p.Phe163Cys) c.-69+2029T>G (n.-69+2029T>G) | |
10 | g.49611229C>A | CA376718858 | CHAT,SLC18A3 | c.489C>A (p.Phe163Leu) c.-69+2030C>A (n.-69+2030C>A) | gnomAD v4 |
10 | g.49611229C= | CA1908793160 | CHAT,SLC18A3 | c.489C= (p.Phe163=) c.-69+2030C= (n.-69+2030C=) | |
10 | g.49611229C>G | CA376718860 | CHAT,SLC18A3 | c.489C>G (p.Phe163Leu) c.-69+2030C>G (n.-69+2030C>G) | |
10 | g.49611229C>T | CA5496770 | CHAT,SLC18A3 | c.489C>T (p.Phe163=) c.-69+2030C>T (n.-69+2030C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611230G>A | CA376718863 | CHAT,SLC18A3 | c.490G>A (p.Ala164Thr) c.-69+2031G>A (n.-69+2031G>A) | dbSNP |
10 | g.49611230G>C | CA376718865 | CHAT,SLC18A3 | c.490G>C (p.Ala164Pro) c.-69+2031G>C (n.-69+2031G>C) | gnomAD v4 |
10 | g.49611230G= | CA1908793163 | CHAT,SLC18A3 | c.490G= (p.Ala164=) c.-69+2031G= (n.-69+2031G=) | |
10 | g.49611230G>T | CA376718867 | CHAT,SLC18A3 | c.490G>T (p.Ala164Ser) c.-69+2031G>T (n.-69+2031G>T) | gnomAD v4 |
10 | g.49611230dup | CA2843219619 | CHAT,SLC18A3 | c.490dup (p.Ala164GlyfsTer?) c.-69+2031dup (n.-69+2031dup) | |
10 | g.49611231C>A | CA376718870 | CHAT,SLC18A3 | c.491C>A (p.Ala164Asp) c.-69+2032C>A (n.-69+2032C>A) | |
10 | g.49611231C>G | CA376718872 | CHAT,SLC18A3 | c.491C>G (p.Ala164Gly) c.-69+2032C>G (n.-69+2032C>G) | |
10 | g.49611231C>T | CA376718884 | CHAT,SLC18A3 | c.491C>T (p.Ala164Val) c.-69+2032C>T (n.-69+2032C>T) | |
10 | g.49611232C>A | CA469791573 | CHAT,SLC18A3 | c.492C>A (p.Ala164=) c.-69+2033C>A (n.-69+2033C>A) | |
10 | g.49611232C>G | CA469791571 | CHAT,SLC18A3 | c.492C>G (p.Ala164=) c.-69+2033C>G (n.-69+2033C>G) | |
10 | g.49611232C>T | CA469791575 | CHAT,SLC18A3 | c.492C>T (p.Ala164=) c.-69+2033C>T (n.-69+2033C>T) | |
10 | g.49611233T>A | CA376718888 | CHAT,SLC18A3 | c.493T>A (p.Ser165Thr) c.-69+2034T>A (n.-69+2034T>A) | |
10 | g.49611233T>C | CA376718891 | CHAT,SLC18A3 | c.493T>C (p.Ser165Pro) c.-69+2034T>C (n.-69+2034T>C) | |
10 | g.49611233T>G | CA376718893 | CHAT,SLC18A3 | c.493T>G (p.Ser165Ala) c.-69+2034T>G (n.-69+2034T>G) | |
10 | g.49611234C>A | CA376718898 | CHAT,SLC18A3 | c.494C>A (p.Ser165Tyr) c.-69+2035C>A (n.-69+2035C>A) | |
10 | g.49611234C>G | CA376718897 | CHAT,SLC18A3 | c.494C>G (p.Ser165Cys) c.-69+2035C>G (n.-69+2035C>G) | COSMIC |
10 | g.49611234C>T | CA376718896 | CHAT,SLC18A3 | c.494C>T (p.Ser165Phe) c.-69+2035C>T (n.-69+2035C>T) | |
10 | g.49611235T>A | CA469791586 | CHAT,SLC18A3 | c.495T>A (p.Ser165=) c.-69+2036T>A (n.-69+2036T>A) | |
10 | g.49611235T>C | CA469791587 | CHAT,SLC18A3 | c.495T>C (p.Ser165=) c.-69+2036T>C (n.-69+2036T>C) | |
10 | g.49611235T>G | CA469791590 | CHAT,SLC18A3 | c.495T>G (p.Ser165=) c.-69+2036T>G (n.-69+2036T>G) | |
10 | g.49611236A>C | CA376718901 | CHAT,SLC18A3 | c.496A>C (p.Thr166Pro) c.-69+2037A>C (n.-69+2037A>C) | |
10 | g.49611236A>G | CA376718905 | CHAT,SLC18A3 | c.496A>G (p.Thr166Ala) c.-69+2037A>G (n.-69+2037A>G) | |
10 | g.49611236A>T | CA376718910 | CHAT,SLC18A3 | c.496A>T (p.Thr166Ser) c.-69+2037A>T (n.-69+2037A>T) | |
10 | g.49611237C>A | CA376718920 | CHAT,SLC18A3 | c.497C>A (p.Thr166Lys) c.-69+2038C>A (n.-69+2038C>A) | |
10 | g.49611237C>G | CA376718922 | CHAT,SLC18A3 | c.497C>G (p.Thr166Arg) c.-69+2038C>G (n.-69+2038C>G) | |
10 | g.49611237C>T | CA376718925 | CHAT,SLC18A3 | c.497C>T (p.Thr166Ile) c.-69+2038C>T (n.-69+2038C>T) | |
10 | g.49611237_49611238insGTAG | CA2609115320 | CHAT,SLC18A3 | c.497_498insGTAG (p.Val167Ter) c.-69+2038_-69+2039insGTAG (n.-69+2038_-69+2039insGTAG) | gnomAD v4 |
10 | g.49611238A= | CA1908793171 | CHAT,SLC18A3 | c.498A= (p.Thr166=) c.-69+2039A= (n.-69+2039A=) | |
10 | g.49611238A>C | CA469791594 | CHAT,SLC18A3 | c.498A>C (p.Thr166=) c.-69+2039A>C (n.-69+2039A>C) | gnomAD v3 gnomAD v4 |
10 | g.49611238A>G | CA5496771 | CHAT,SLC18A3 | c.498A>G (p.Thr166=) c.-69+2039A>G (n.-69+2039A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611238A>T | CA469791593 | CHAT,SLC18A3 | c.498A>T (p.Thr166=) c.-69+2039A>T (n.-69+2039A>T) | |
10 | g.49611239G>A | CA376718931 | CHAT,SLC18A3 | c.499G>A (p.Val167Ile) c.-69+2040G>A (n.-69+2040G>A) | gnomAD v4 |
10 | g.49611239G>C | CA376718936 | CHAT,SLC18A3 | c.499G>C (p.Val167Leu) c.-69+2040G>C (n.-69+2040G>C) | |
10 | g.49611239G>T | CA376718939 | CHAT,SLC18A3 | c.499G>T (p.Val167Phe) c.-69+2040G>T (n.-69+2040G>T) | |
10 | g.49611240T>A | CA376718940 | CHAT,SLC18A3 | c.500T>A (p.Val167Asp) c.-69+2041T>A (n.-69+2041T>A) | |
10 | g.49611240T>C | CA376718941 | CHAT,SLC18A3 | c.500T>C (p.Val167Ala) c.-69+2041T>C (n.-69+2041T>C) | gnomAD v4 |
10 | g.49611240T>G | CA376718942 | CHAT,SLC18A3 | c.500T>G (p.Val167Gly) c.-69+2041T>G (n.-69+2041T>G) | |
10 | g.49611241C>A | CA469791602 | CHAT,SLC18A3 | c.501C>A (p.Val167=) c.-69+2042C>A (n.-69+2042C>A) | |
10 | g.49611241C>G | CA469791604 | CHAT,SLC18A3 | c.501C>G (p.Val167=) c.-69+2042C>G (n.-69+2042C>G) | |
10 | g.49611241C>T | CA469791603 | CHAT,SLC18A3 | c.501C>T (p.Val167=) c.-69+2042C>T (n.-69+2042C>T) | |
10 | g.49611242C>A | CA376718943 | CHAT,SLC18A3 | c.502C>A (p.Leu168Met) c.-69+2043C>A (n.-69+2043C>A) | |
10 | g.49611242C>G | CA376718945 | CHAT,SLC18A3 | c.502C>G (p.Leu168Val) c.-69+2043C>G (n.-69+2043C>G) | |
10 | g.49611242C>T | CA469791607 | CHAT,SLC18A3 | c.502C>T (p.Leu168=) c.-69+2043C>T (n.-69+2043C>T) | |
10 | g.49611243T>A | CA376718949 | CHAT,SLC18A3 | c.503T>A (p.Leu168Gln) c.-69+2044T>A (n.-69+2044T>A) | |
10 | g.49611243T>C | CA376718955 | CHAT,SLC18A3 | c.503T>C (p.Leu168Pro) c.-69+2044T>C (n.-69+2044T>C) | |
10 | g.49611243T>G | CA376718952 | CHAT,SLC18A3 | c.503T>G (p.Leu168Arg) c.-69+2044T>G (n.-69+2044T>G) | |
10 | g.49611244G>A | CA469791614 | CHAT,SLC18A3 | c.504G>A (p.Leu168=) c.-69+2045G>A (n.-69+2045G>A) | |
10 | g.49611244G>C | CA469791612 | CHAT,SLC18A3 | c.504G>C (p.Leu168=) c.-69+2045G>C (n.-69+2045G>C) | |
10 | g.49611244G>T | CA469791616 | CHAT,SLC18A3 | c.504G>T (p.Leu168=) c.-69+2045G>T (n.-69+2045G>T) | gnomAD v4 |
10 | g.49611245T>A | CA376718960 | CHAT,SLC18A3 | c.505T>A (p.Phe169Ile) c.-69+2046T>A (n.-69+2046T>A) | |
10 | g.49611245T>C | CA376718965 | CHAT,SLC18A3 | c.505T>C (p.Phe169Leu) c.-69+2046T>C (n.-69+2046T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611245T>G | CA376718962 | CHAT,SLC18A3 | c.505T>G (p.Phe169Val) c.-69+2046T>G (n.-69+2046T>G) | |
10 | g.49611245T= | CA1908793177 | CHAT,SLC18A3 | c.505T= (p.Phe169=) c.-69+2046T= (n.-69+2046T=) | |
10 | g.49611246T>A | CA376718967 | CHAT,SLC18A3 | c.506T>A (p.Phe169Tyr) c.-69+2047T>A (n.-69+2047T>A) | |
10 | g.49611246T>C | CA376718971 | CHAT,SLC18A3 | c.506T>C (p.Phe169Ser) c.-69+2047T>C (n.-69+2047T>C) | |
10 | g.49611246T>G | CA376718974 | CHAT,SLC18A3 | c.506T>G (p.Phe169Cys) c.-69+2047T>G (n.-69+2047T>G) | |
10 | g.49611247C>A | CA376718978 | CHAT,SLC18A3 | c.507C>A (p.Phe169Leu) c.-69+2048C>A (n.-69+2048C>A) | |
10 | g.49611247C= | CA1908793183 | CHAT,SLC18A3 | c.507C= (p.Phe169=) c.-69+2048C= (n.-69+2048C=) | |
10 | g.49611247C>G | CA376718980 | CHAT,SLC18A3 | c.507C>G (p.Phe169Leu) c.-69+2048C>G (n.-69+2048C>G) | |
10 | g.49611247C>T | CA5496772 | CHAT,SLC18A3 | c.507C>T (p.Phe169=) c.-69+2048C>T (n.-69+2048C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611248G>A | CA376718989 | CHAT,SLC18A3 | c.508G>A (p.Ala170Thr) c.-69+2049G>A (n.-69+2049G>A) | COSMIC |
10 | g.49611248G>C | CA376718993 | CHAT,SLC18A3 | c.508G>C (p.Ala170Pro) c.-69+2049G>C (n.-69+2049G>C) | gnomAD v4 |
10 | g.49611248G>T | CA376718995 | CHAT,SLC18A3 | c.508G>T (p.Ala170Ser) c.-69+2049G>T (n.-69+2049G>T) | |
10 | g.49611249C>A | CA376719000 | CHAT,SLC18A3 | c.509C>A (p.Ala170Asp) c.-69+2050C>A (n.-69+2050C>A) | |
10 | g.49611249C= | CA1908793188 | CHAT,SLC18A3 | c.509C= (p.Ala170=) c.-69+2050C= (n.-69+2050C=) | |
10 | g.49611249C>G | CA376719002 | CHAT,SLC18A3 | c.509C>G (p.Ala170Gly) c.-69+2050C>G (n.-69+2050C>G) | |
10 | g.49611249C>T | CA376719006 | CHAT,SLC18A3 | c.509C>T (p.Ala170Val) c.-69+2050C>T (n.-69+2050C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611250C>A | CA5496773 | CHAT,SLC18A3 | c.510C>A (p.Ala170=) c.-69+2051C>A (n.-69+2051C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611250C= | CA1908793191 | CHAT,SLC18A3 | c.510C= (p.Ala170=) c.-69+2051C= (n.-69+2051C=) | |
10 | g.49611250C>G | CA469791636 | CHAT,SLC18A3 | c.510C>G (p.Ala170=) c.-69+2051C>G (n.-69+2051C>G) | |
10 | g.49611250C>T | CA469791633 | CHAT,SLC18A3 | c.510C>T (p.Ala170=) c.-69+2051C>T (n.-69+2051C>T) | gnomAD v4 |
10 | g.49611251T>A | CA376719011 | CHAT,SLC18A3 | c.511T>A (p.Phe171Ile) c.-69+2052T>A (n.-69+2052T>A) | |
10 | g.49611251T>C | CA5496774 | CHAT,SLC18A3 | c.511T>C (p.Phe171Leu) c.-69+2052T>C (n.-69+2052T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611251T>G | CA376719015 | CHAT,SLC18A3 | c.511T>G (p.Phe171Val) c.-69+2052T>G (n.-69+2052T>G) | |
10 | g.49611251T= | CA1908793194 | CHAT,SLC18A3 | c.511T= (p.Phe171=) c.-69+2052T= (n.-69+2052T=) | |
10 | g.49611252T>A | CA376719019 | CHAT,SLC18A3 | c.512T>A (p.Phe171Tyr) c.-69+2053T>A (n.-69+2053T>A) | |
10 | g.49611252T>C | CA376719023 | CHAT,SLC18A3 | c.512T>C (p.Phe171Ser) c.-69+2053T>C (n.-69+2053T>C) | |
10 | g.49611252T>G | CA376719025 | CHAT,SLC18A3 | c.512T>G (p.Phe171Cys) c.-69+2053T>G (n.-69+2053T>G) | |
10 | g.49611253C>A | CA5496776 | CHAT,SLC18A3 | c.513C>A (p.Phe171Leu) c.-69+2054C>A (n.-69+2054C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611253C= | CA1908793198 | CHAT,SLC18A3 | c.513C= (p.Phe171=) c.-69+2054C= (n.-69+2054C=) | |
10 | g.49611253C>G | CA376719031 | CHAT,SLC18A3 | c.513C>G (p.Phe171Leu) c.-69+2054C>G (n.-69+2054C>G) | |
10 | g.49611253C>T | CA5496775 | CHAT,SLC18A3 | c.513C>T (p.Phe171=) c.-69+2054C>T (n.-69+2054C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611254G>A | CA376719037 | CHAT,SLC18A3 | c.514G>A (p.Ala172Thr) c.-69+2055G>A (n.-69+2055G>A) | COSMIC |
10 | g.49611254G>C | CA206621033 | CHAT,SLC18A3 | c.514G>C (p.Ala172Pro) c.-69+2055G>C (n.-69+2055G>C) | dbSNP gnomAD v4 |
10 | g.49611254G= | CA1908793202 | CHAT,SLC18A3 | c.514G= (p.Ala172=) c.-69+2055G= (n.-69+2055G=) | |
10 | g.49611254G>T | CA376719044 | CHAT,SLC18A3 | c.514G>T (p.Ala172Ser) c.-69+2055G>T (n.-69+2055G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611255C>A | CA376719056 | CHAT,SLC18A3 | c.515C>A (p.Ala172Asp) c.-69+2056C>A (n.-69+2056C>A) | |
10 | g.49611255C= | CA1908793206 | CHAT,SLC18A3 | c.515C= (p.Ala172=) c.-69+2056C= (n.-69+2056C=) | |
10 | g.49611255C>G | CA376719049 | CHAT,SLC18A3 | c.515C>G (p.Ala172Gly) c.-69+2056C>G (n.-69+2056C>G) | |
10 | g.49611255C>T | CA5496777 | CHAT,SLC18A3 | c.515C>T (p.Ala172Val) c.-69+2056C>T (n.-69+2056C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611256C>A | CA469791647 | CHAT,SLC18A3 | c.516C>A (p.Ala172=) c.-69+2057C>A (n.-69+2057C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611256C= | CA1908793210 | CHAT,SLC18A3 | c.516C= (p.Ala172=) c.-69+2057C= (n.-69+2057C=) | |
10 | g.49611256C>G | CA469791645 | CHAT,SLC18A3 | c.516C>G (p.Ala172=) c.-69+2057C>G (n.-69+2057C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611256C>T | CA469791648 | CHAT,SLC18A3 | c.516C>T (p.Ala172=) c.-69+2057C>T (n.-69+2057C>T) | gnomAD v4 |
10 | g.49611257G>A | CA376719065 | CHAT,SLC18A3 | c.517G>A (p.Glu173Lys) c.-69+2058G>A (n.-69+2058G>A) | gnomAD v4 |
10 | g.49611257G>C | CA376719060 | CHAT,SLC18A3 | c.517G>C (p.Glu173Gln) c.-69+2058G>C (n.-69+2058G>C) | gnomAD v4 |
10 | g.49611257G>T | CA376719062 | CHAT,SLC18A3 | c.517G>T (p.Glu173Ter) c.-69+2058G>T (n.-69+2058G>T) | |
10 | g.49611258A>C | CA376719070 | CHAT,SLC18A3 | c.518A>C (p.Glu173Ala) c.-69+2059A>C (n.-69+2059A>C) | |
10 | g.49611258A>G | CA376719071 | CHAT,SLC18A3 | c.518A>G (p.Glu173Gly) c.-69+2059A>G (n.-69+2059A>G) | |
10 | g.49611258A>T | CA376719074 | CHAT,SLC18A3 | c.518A>T (p.Glu173Val) c.-69+2059A>T (n.-69+2059A>T) | |
10 | g.49611259G>A | CA5496778 | CHAT,SLC18A3 | c.519G>A (p.Glu173=) c.-69+2060G>A (n.-69+2060G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611259G>C | CA376719082 | CHAT,SLC18A3 | c.519G>C (p.Glu173Asp) c.-69+2060G>C (n.-69+2060G>C) | |
10 | g.49611259G= | CA1908793217 | CHAT,SLC18A3 | c.519G= (p.Glu173=) c.-69+2060G= (n.-69+2060G=) | |
10 | g.49611259G>T | CA376719085 | CHAT,SLC18A3 | c.519G>T (p.Glu173Asp) c.-69+2060G>T (n.-69+2060G>T) | |
10 | g.49611260G>A | CA376719088 | CHAT,SLC18A3 | c.520G>A (p.Asp174Asn) c.-69+2061G>A (n.-69+2061G>A) | gnomAD v4 COSMIC |
10 | g.49611260G>C | CA376719090 | CHAT,SLC18A3 | c.520G>C (p.Asp174His) c.-69+2061G>C (n.-69+2061G>C) | dbSNP |
10 | g.49611260G= | CA1908793221 | CHAT,SLC18A3 | c.520G= (p.Asp174=) c.-69+2061G= (n.-69+2061G=) | |
10 | g.49611260G>T | CA376719094 | CHAT,SLC18A3 | c.520G>T (p.Asp174Tyr) c.-69+2061G>T (n.-69+2061G>T) | gnomAD v4 |
10 | g.49611261A= | CA1908793223 | CHAT,SLC18A3 | c.521A= (p.Asp174=) c.-69+2062A= (n.-69+2062A=) | |
10 | g.49611261A>C | CA376719097 | CHAT,SLC18A3 | c.521A>C (p.Asp174Ala) c.-69+2062A>C (n.-69+2062A>C) | |
10 | g.49611261A>G | CA376719100 | CHAT,SLC18A3 | c.521A>G (p.Asp174Gly) c.-69+2062A>G (n.-69+2062A>G) | |
10 | g.49611261A>T | CA376719103 | CHAT,SLC18A3 | c.521A>T (p.Asp174Val) c.-69+2062A>T (n.-69+2062A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611262C>A | CA376719109 | CHAT,SLC18A3 | c.522C>A (p.Asp174Glu) c.-69+2063C>A (n.-69+2063C>A) | |
10 | g.49611262C>G | CA376719112 | CHAT,SLC18A3 | c.522C>G (p.Asp174Glu) c.-69+2063C>G (n.-69+2063C>G) | |
10 | g.49611262C>T | CA469791668 | CHAT,SLC18A3 | c.522C>T (p.Asp174=) c.-69+2063C>T (n.-69+2063C>T) | |
10 | g.49611263T>A | CA376719115 | CHAT,SLC18A3 | c.523T>A (p.Tyr175Asn) c.-69+2064T>A (n.-69+2064T>A) | |
10 | g.49611263T>C | CA376719118 | CHAT,SLC18A3 | c.523T>C (p.Tyr175His) c.-69+2064T>C (n.-69+2064T>C) | |
10 | g.49611263T>G | CA376719121 | CHAT,SLC18A3 | c.523T>G (p.Tyr175Asp) c.-69+2064T>G (n.-69+2064T>G) | |
10 | g.49611264A= | CA1908793228 | CHAT,SLC18A3 | c.524A= (p.Tyr175=) c.-69+2065A= (n.-69+2065A=) | |
10 | g.49611264A>C | CA376719125 | CHAT,SLC18A3 | c.524A>C (p.Tyr175Ser) c.-69+2065A>C (n.-69+2065A>C) | |
10 | g.49611264A>G | CA206621043 | CHAT,SLC18A3 | c.524A>G (p.Tyr175Cys) c.-69+2065A>G (n.-69+2065A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611264A>T | CA376719130 | CHAT,SLC18A3 | c.524A>T (p.Tyr175Phe) c.-69+2065A>T (n.-69+2065A>T) | |
10 | g.49611265C>A | CA376719134 | CHAT,SLC18A3 | c.525C>A (p.Tyr175Ter) c.-69+2066C>A (n.-69+2066C>A) | |
10 | g.49611265C= | CA1908793231 | CHAT,SLC18A3 | c.525C= (p.Tyr175=) c.-69+2066C= (n.-69+2066C=) | |
10 | g.49611265C>G | CA376719137 | CHAT,SLC18A3 | c.525C>G (p.Tyr175Ter) c.-69+2066C>G (n.-69+2066C>G) | |
10 | g.49611265C>T | CA5496779 | CHAT,SLC18A3 | c.525C>T (p.Tyr175=) c.-69+2066C>T (n.-69+2066C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611266G>A | CA376719144 | CHAT,SLC18A3 | c.526G>A (p.Ala176Thr) c.-69+2067G>A (n.-69+2067G>A) | dbSNP gnomAD v4 |
10 | g.49611266G>C | CA376719146 | CHAT,SLC18A3 | c.526G>C (p.Ala176Pro) c.-69+2067G>C (n.-69+2067G>C) | |
10 | g.49611266G= | CA1908793233 | CHAT,SLC18A3 | c.526G= (p.Ala176=) c.-69+2067G= (n.-69+2067G=) | |
10 | g.49611266G>T | CA376719148 | CHAT,SLC18A3 | c.526G>T (p.Ala176Ser) c.-69+2067G>T (n.-69+2067G>T) | |
10 | g.49611267C>A | CA376719154 | CHAT,SLC18A3 | c.527C>A (p.Ala176Asp) c.-69+2068C>A (n.-69+2068C>A) | |
10 | g.49611267C>G | CA376719157 | CHAT,SLC18A3 | c.527C>G (p.Ala176Gly) c.-69+2068C>G (n.-69+2068C>G) | |
10 | g.49611267C>T | CA376719152 | CHAT,SLC18A3 | c.527C>T (p.Ala176Val) c.-69+2068C>T (n.-69+2068C>T) | |
10 | g.49611268C>A | CA469791686 | CHAT,SLC18A3 | c.528C>A (p.Ala176=) c.-69+2069C>A (n.-69+2069C>A) | |
10 | g.49611268C= | CA1908793236 | CHAT,SLC18A3 | c.528C= (p.Ala176=) c.-69+2069C= (n.-69+2069C=) | |
10 | g.49611268C>G | CA469791683 | CHAT,SLC18A3 | c.528C>G (p.Ala176=) c.-69+2069C>G (n.-69+2069C>G) | |
10 | g.49611268C>T | CA469791684 | CHAT,SLC18A3 | c.528C>T (p.Ala176=) c.-69+2069C>T (n.-69+2069C>T) | dbSNP gnomAD v2 |
10 | g.49611269del | CA2609115411 | CHAT,SLC18A3 | c.529del (p.Thr177ArgfsTer21) c.-69+2070del (n.-69+2070del) | gnomAD v4 |
10 | g.49611269A>C | CA376719162 | CHAT,SLC18A3 | c.529A>C (p.Thr177Pro) c.-69+2070A>C (n.-69+2070A>C) | |
10 | g.49611269A>G | CA376719168 | CHAT,SLC18A3 | c.529A>G (p.Thr177Ala) c.-69+2070A>G (n.-69+2070A>G) | gnomAD v4 |
10 | g.49611269A>T | CA376719164 | CHAT,SLC18A3 | c.529A>T (p.Thr177Ser) c.-69+2070A>T (n.-69+2070A>T) | |
10 | g.49611270C>A | CA5496781 | CHAT,SLC18A3 | c.530C>A (p.Thr177Lys) c.-69+2071C>A (n.-69+2071C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611270C= | CA1908793239 | CHAT,SLC18A3 | c.530C= (p.Thr177=) c.-69+2071C= (n.-69+2071C=) | |
10 | g.49611270C>G | CA376719174 | CHAT,SLC18A3 | c.530C>G (p.Thr177Arg) c.-69+2071C>G (n.-69+2071C>G) | |
10 | g.49611270C>T | CA5496780 | CHAT,SLC18A3 | c.530C>T (p.Thr177Met) c.-69+2071C>T (n.-69+2071C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611271G>A | CA469791694 | CHAT,SLC18A3 | c.531G>A (p.Thr177=) c.-69+2072G>A (n.-69+2072G>A) | gnomAD v4 COSMIC |
10 | g.49611271G>C | CA469791701 | CHAT,SLC18A3 | c.531G>C (p.Thr177=) c.-69+2072G>C (n.-69+2072G>C) | gnomAD v4 |
10 | g.49611271G= | CA1908793241 | CHAT,SLC18A3 | c.531G= (p.Thr177=) c.-69+2072G= (n.-69+2072G=) | |
10 | g.49611271G>T | CA469791700 | CHAT,SLC18A3 | c.531G>T (p.Thr177=) c.-69+2072G>T (n.-69+2072G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611272C>A | CA376719178 | CHAT,SLC18A3 | c.532C>A (p.Leu178Met) c.-69+2073C>A (n.-69+2073C>A) | |
10 | g.49611272C>G | CA376719181 | CHAT,SLC18A3 | c.532C>G (p.Leu178Val) c.-69+2073C>G (n.-69+2073C>G) | |
10 | g.49611272C>T | CA469791704 | CHAT,SLC18A3 | c.532C>T (p.Leu178=) c.-69+2073C>T (n.-69+2073C>T) | |
10 | g.49611273T>A | CA376719186 | CHAT,SLC18A3 | c.533T>A (p.Leu178Gln) c.-69+2074T>A (n.-69+2074T>A) | |
10 | g.49611273T>C | CA376719189 | CHAT,SLC18A3 | c.533T>C (p.Leu178Pro) c.-69+2074T>C (n.-69+2074T>C) | |
10 | g.49611273T>G | CA376719190 | CHAT,SLC18A3 | c.533T>G (p.Leu178Arg) c.-69+2074T>G (n.-69+2074T>G) | |
10 | g.49611274G>A | CA5496782 | CHAT,SLC18A3 | c.534G>A (p.Leu178=) c.-69+2075G>A (n.-69+2075G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611274G>C | CA469791709 | CHAT,SLC18A3 | c.534G>C (p.Leu178=) c.-69+2075G>C (n.-69+2075G>C) | ClinVar dbSNP gnomAD v4 |
10 | g.49611274G= | CA1908793243 | CHAT,SLC18A3 | c.534G= (p.Leu178=) c.-69+2075G= (n.-69+2075G=) | |
10 | g.49611274G>T | CA469791712 | CHAT,SLC18A3 | c.534G>T (p.Leu178=) c.-69+2075G>T (n.-69+2075G>T) | |
10 | g.49611275T>A | CA376719196 | CHAT,SLC18A3 | c.535T>A (p.Phe179Ile) c.-69+2076T>A (n.-69+2076T>A) | |
10 | g.49611275T>C | CA376719199 | CHAT,SLC18A3 | c.535T>C (p.Phe179Leu) c.-69+2076T>C (n.-69+2076T>C) | |
10 | g.49611275T>G | CA376719202 | CHAT,SLC18A3 | c.535T>G (p.Phe179Val) c.-69+2076T>G (n.-69+2076T>G) | |
10 | g.49611276T>A | CA376719207 | CHAT,SLC18A3 | c.536T>A (p.Phe179Tyr) c.-69+2077T>A (n.-69+2077T>A) | |
10 | g.49611276T>C | CA376719213 | CHAT,SLC18A3 | c.536T>C (p.Phe179Ser) c.-69+2077T>C (n.-69+2077T>C) | |
10 | g.49611276T>G | CA376719209 | CHAT,SLC18A3 | c.536T>G (p.Phe179Cys) c.-69+2077T>G (n.-69+2077T>G) | |
10 | g.49611277C>A | CA376719216 | CHAT,SLC18A3 | c.537C>A (p.Phe179Leu) c.-69+2078C>A (n.-69+2078C>A) | gnomAD v4 |
10 | g.49611277C>G | CA376719218 | CHAT,SLC18A3 | c.537C>G (p.Phe179Leu) c.-69+2078C>G (n.-69+2078C>G) | |
10 | g.49611277C>T | CA469791723 | CHAT,SLC18A3 | c.537C>T (p.Phe179=) c.-69+2078C>T (n.-69+2078C>T) | gnomAD v4 COSMIC |