Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611204T>ACA376718726CHAT,SLC18A3c.464T>A (p.Leu155Gln)
c.-69+2005T>A (n.-69+2005T>A)
10g.49611204T>CCA376718728CHAT,SLC18A3c.464T>C (p.Leu155Pro)
c.-69+2005T>C (n.-69+2005T>C)
10g.49611204T>GCA376718730CHAT,SLC18A3c.464T>G (p.Leu155Arg)
c.-69+2005T>G (n.-69+2005T>G)
10g.49611205G>ACA469791465CHAT,SLC18A3c.465G>A (p.Leu155=)
c.-69+2006G>A (n.-69+2006G>A)
 gnomAD v4
10g.49611205G>CCA469791461CHAT,SLC18A3c.465G>C (p.Leu155=)
c.-69+2006G>C (n.-69+2006G>C)
10g.49611205G=CA1908793140CHAT,SLC18A3c.465G= (p.Leu155=)
c.-69+2006G= (n.-69+2006G=)
10g.49611205G>TCA469791463CHAT,SLC18A3c.465G>T (p.Leu155=)
c.-69+2006G>T (n.-69+2006G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611206C>ACA376718737CHAT,SLC18A3c.466C>A (p.Leu156Met)
c.-69+2007C>A (n.-69+2007C>A)
10g.49611206C>GCA376718733CHAT,SLC18A3c.466C>G (p.Leu156Val)
c.-69+2007C>G (n.-69+2007C>G)
10g.49611206C>TCA469791466CHAT,SLC18A3c.466C>T (p.Leu156=)
c.-69+2007C>T (n.-69+2007C>T)
10g.49611207T>ACA376718740CHAT,SLC18A3c.467T>A (p.Leu156Gln)
c.-69+2008T>A (n.-69+2008T>A)
10g.49611207T>CCA206621007CHAT,SLC18A3c.467T>C (p.Leu156Pro)
c.-69+2008T>C (n.-69+2008T>C)
 dbSNP
10g.49611207T>GCA376718755CHAT,SLC18A3c.467T>G (p.Leu156Arg)
c.-69+2008T>G (n.-69+2008T>G)
10g.49611207T=CA1908793143CHAT,SLC18A3c.467T= (p.Leu156=)
c.-69+2008T= (n.-69+2008T=)
10g.49611208G>ACA469791473CHAT,SLC18A3c.468G>A (p.Leu156=)
c.-69+2009G>A (n.-69+2009G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611208G>CCA469791471CHAT,SLC18A3c.468G>C (p.Leu156=)
c.-69+2009G>C (n.-69+2009G>C)
 gnomAD v4
10g.49611208G=CA1908793144CHAT,SLC18A3c.468G= (p.Leu156=)
c.-69+2009G= (n.-69+2009G=)
10g.49611208G>TCA469791472CHAT,SLC18A3c.468G>T (p.Leu156=)
c.-69+2009G>T (n.-69+2009G>T)
 gnomAD v4
10g.49611209A>CCA376718760CHAT,SLC18A3c.469A>C (p.Ile157Leu)
c.-69+2010A>C (n.-69+2010A>C)
10g.49611209A>GCA376718763CHAT,SLC18A3c.469A>G (p.Ile157Val)
c.-69+2010A>G (n.-69+2010A>G)
10g.49611209A>TCA376718765CHAT,SLC18A3c.469A>T (p.Ile157Phe)
c.-69+2010A>T (n.-69+2010A>T)
10g.49611210T>ACA376718768CHAT,SLC18A3c.470T>A (p.Ile157Asn)
c.-69+2011T>A (n.-69+2011T>A)
10g.49611210T>CCA376718771CHAT,SLC18A3c.470T>C (p.Ile157Thr)
c.-69+2011T>C (n.-69+2011T>C)
10g.49611210T>GCA376718773CHAT,SLC18A3c.470T>G (p.Ile157Ser)
c.-69+2011T>G (n.-69+2011T>G)
10g.49611211C>ACA469791482CHAT,SLC18A3c.471C>A (p.Ile157=)
c.-69+2012C>A (n.-69+2012C>A)
 gnomAD v4
10g.49611211C>GCA376718776CHAT,SLC18A3c.471C>G (p.Ile157Met)
c.-69+2012C>G (n.-69+2012C>G)
10g.49611211C>TCA469791484CHAT,SLC18A3c.471C>T (p.Ile157=)
c.-69+2012C>T (n.-69+2012C>T)
 gnomAD v4
10g.49611212G>ACA376718778CHAT,SLC18A3c.472G>A (p.Gly158Ser)
c.-69+2013G>A (n.-69+2013G>A)
10g.49611212G>CCA376718779CHAT,SLC18A3c.472G>C (p.Gly158Arg)
c.-69+2013G>C (n.-69+2013G>C)
10g.49611212G>TCA376718781CHAT,SLC18A3c.472G>T (p.Gly158Cys)
c.-69+2013G>T (n.-69+2013G>T)
10g.49611213G>ACA376718787CHAT,SLC18A3c.473G>A (p.Gly158Asp)
c.-69+2014G>A (n.-69+2014G>A)
10g.49611213G>CCA376718785CHAT,SLC18A3c.473G>C (p.Gly158Ala)
c.-69+2014G>C (n.-69+2014G>C)
10g.49611213G>TCA376718783CHAT,SLC18A3c.473G>T (p.Gly158Val)
c.-69+2014G>T (n.-69+2014G>T)
10g.49611214C>ACA469791500CHAT,SLC18A3c.474C>A (p.Gly158=)
c.-69+2015C>A (n.-69+2015C>A)
10g.49611214C>GCA469791497CHAT,SLC18A3c.474C>G (p.Gly158=)
c.-69+2015C>G (n.-69+2015C>G)
10g.49611214C>TCA469791501CHAT,SLC18A3c.474C>T (p.Gly158=)
c.-69+2015C>T (n.-69+2015C>T)
10g.49611215C>ACA376718790CHAT,SLC18A3c.475C>A (p.Leu159Met)
c.-69+2016C>A (n.-69+2016C>A)
10g.49611215C>GCA376718792CHAT,SLC18A3c.475C>G (p.Leu159Val)
c.-69+2016C>G (n.-69+2016C>G)
10g.49611215C>TCA469791504CHAT,SLC18A3c.475C>T (p.Leu159=)
c.-69+2016C>T (n.-69+2016C>T)
10g.49611216T>ACA376718793CHAT,SLC18A3c.476T>A (p.Leu159Gln)
c.-69+2017T>A (n.-69+2017T>A)
10g.49611216T>CCA376718796CHAT,SLC18A3c.476T>C (p.Leu159Pro)
c.-69+2017T>C (n.-69+2017T>C)
10g.49611216T>GCA376718798CHAT,SLC18A3c.476T>G (p.Leu159Arg)
c.-69+2017T>G (n.-69+2017T>G)
 gnomAD v4
10g.49611217G>ACA469791512CHAT,SLC18A3c.477G>A (p.Leu159=)
c.-69+2018G>A (n.-69+2018G>A)
10g.49611217G>CCA469791513CHAT,SLC18A3c.477G>C (p.Leu159=)
c.-69+2018G>C (n.-69+2018G>C)
 gnomAD v4
10g.49611217G>TCA469791507CHAT,SLC18A3c.477G>T (p.Leu159=)
c.-69+2018G>T (n.-69+2018G>T)
10g.49611218G>ACA376718800CHAT,SLC18A3c.478G>A (p.Gly160Ser)
c.-69+2019G>A (n.-69+2019G>A)
10g.49611218G>CCA376718803CHAT,SLC18A3c.478G>C (p.Gly160Arg)
c.-69+2019G>C (n.-69+2019G>C)
10g.49611218G>TCA376718804CHAT,SLC18A3c.478G>T (p.Gly160Cys)
c.-69+2019G>T (n.-69+2019G>T)
10g.49611219G>ACA5496769CHAT,SLC18A3c.479G>A (p.Gly160Asp)
c.-69+2020G>A (n.-69+2020G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611219G>CCA376718807CHAT,SLC18A3c.479G>C (p.Gly160Ala)
c.-69+2020G>C (n.-69+2020G>C)
10g.49611219G=CA1908793146CHAT,SLC18A3c.479G= (p.Gly160=)
c.-69+2020G= (n.-69+2020G=)
10g.49611219G>TCA376718810CHAT,SLC18A3c.479G>T (p.Gly160Val)
c.-69+2020G>T (n.-69+2020G>T)
10g.49611219_49611220delinsTTCA2573145177CHAT,SLC18A3c.479_480delinsTT (p.Gly160Val)
c.-69+2020_-69+2021delinsTT (n.-69+2020_-69+2021delinsTT)
 ClinVar dbSNP
10g.49611220C>ACA469791526CHAT,SLC18A3c.480C>A (p.Gly160=)
c.-69+2021C>A (n.-69+2021C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611220C=CA1908793149CHAT,SLC18A3c.480C= (p.Gly160=)
c.-69+2021C= (n.-69+2021C=)
10g.49611220C>GCA469791528CHAT,SLC18A3c.480C>G (p.Gly160=)
c.-69+2021C>G (n.-69+2021C>G)
 gnomAD v4
10g.49611220C>TCA469791527CHAT,SLC18A3c.480C>T (p.Gly160=)
c.-69+2021C>T (n.-69+2021C>T)
 COSMIC
10g.49611221G>ACA376718812CHAT,SLC18A3c.481G>A (p.Val161Ile)
c.-69+2022G>A (n.-69+2022G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611221G>CCA376718816CHAT,SLC18A3c.481G>C (p.Val161Leu)
c.-69+2022G>C (n.-69+2022G>C)
10g.49611221G=CA1908793150CHAT,SLC18A3c.481G= (p.Val161=)
c.-69+2022G= (n.-69+2022G=)
10g.49611221G>TCA376718818CHAT,SLC18A3c.481G>T (p.Val161Phe)
c.-69+2022G>T (n.-69+2022G>T)
 dbSNP
10g.49611222T>ACA376718824CHAT,SLC18A3c.482T>A (p.Val161Asp)
c.-69+2023T>A (n.-69+2023T>A)
10g.49611222T>CCA376718822CHAT,SLC18A3c.482T>C (p.Val161Ala)
c.-69+2023T>C (n.-69+2023T>C)
10g.49611222T>GCA376718820CHAT,SLC18A3c.482T>G (p.Val161Gly)
c.-69+2023T>G (n.-69+2023T>G)
10g.49611223C>ACA469791539CHAT,SLC18A3c.483C>A (p.Val161=)
c.-69+2024C>A (n.-69+2024C>A)
 gnomAD v4
10g.49611223C>GCA469791543CHAT,SLC18A3c.483C>G (p.Val161=)
c.-69+2024C>G (n.-69+2024C>G)
10g.49611223C>TCA469791537CHAT,SLC18A3c.483C>T (p.Val161=)
c.-69+2024C>T (n.-69+2024C>T)
 COSMIC
10g.49611224A=CA1908793153CHAT,SLC18A3c.484A= (p.Met162=)
c.-69+2025A= (n.-69+2025A=)
10g.49611224A>CCA376718826CHAT,SLC18A3c.484A>C (p.Met162Leu)
c.-69+2025A>C (n.-69+2025A>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611224A>GCA376718828CHAT,SLC18A3c.484A>G (p.Met162Val)
c.-69+2025A>G (n.-69+2025A>G)
 dbSNP gnomAD v4
10g.49611224A>TCA376718830CHAT,SLC18A3c.484A>T (p.Met162Leu)
c.-69+2025A>T (n.-69+2025A>T)
10g.49611225T>ACA376718833CHAT,SLC18A3c.485T>A (p.Met162Lys)
c.-69+2026T>A (n.-69+2026T>A)
10g.49611225T>CCA376718835CHAT,SLC18A3c.485T>C (p.Met162Thr)
c.-69+2026T>C (n.-69+2026T>C)
 gnomAD v4
10g.49611225T>GCA376718837CHAT,SLC18A3c.485T>G (p.Met162Arg)
c.-69+2026T>G (n.-69+2026T>G)
10g.49611226G>ACA376718839CHAT,SLC18A3c.486G>A (p.Met162Ile)
c.-69+2027G>A (n.-69+2027G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611226G>CCA376718840CHAT,SLC18A3c.486G>C (p.Met162Ile)
c.-69+2027G>C (n.-69+2027G>C)
10g.49611226G=CA1908793159CHAT,SLC18A3c.486G= (p.Met162=)
c.-69+2027G= (n.-69+2027G=)
10g.49611226G>TCA206621014CHAT,SLC18A3c.486G>T (p.Met162Ile)
c.-69+2027G>T (n.-69+2027G>T)
 dbSNP gnomAD v4
10g.49611227T>ACA376718844CHAT,SLC18A3c.487T>A (p.Phe163Ile)
c.-69+2028T>A (n.-69+2028T>A)
10g.49611227T>CCA376718847CHAT,SLC18A3c.487T>C (p.Phe163Leu)
c.-69+2028T>C (n.-69+2028T>C)
 gnomAD v4
10g.49611227T>GCA376718849CHAT,SLC18A3c.487T>G (p.Phe163Val)
c.-69+2028T>G (n.-69+2028T>G)
10g.49611228T>ACA376718856CHAT,SLC18A3c.488T>A (p.Phe163Tyr)
c.-69+2029T>A (n.-69+2029T>A)
10g.49611228T>CCA376718854CHAT,SLC18A3c.488T>C (p.Phe163Ser)
c.-69+2029T>C (n.-69+2029T>C)
10g.49611228T>GCA376718852CHAT,SLC18A3c.488T>G (p.Phe163Cys)
c.-69+2029T>G (n.-69+2029T>G)
10g.49611229C>ACA376718858CHAT,SLC18A3c.489C>A (p.Phe163Leu)
c.-69+2030C>A (n.-69+2030C>A)
 gnomAD v4
10g.49611229C=CA1908793160CHAT,SLC18A3c.489C= (p.Phe163=)
c.-69+2030C= (n.-69+2030C=)
10g.49611229C>GCA376718860CHAT,SLC18A3c.489C>G (p.Phe163Leu)
c.-69+2030C>G (n.-69+2030C>G)
10g.49611229C>TCA5496770CHAT,SLC18A3c.489C>T (p.Phe163=)
c.-69+2030C>T (n.-69+2030C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611230G>ACA376718863CHAT,SLC18A3c.490G>A (p.Ala164Thr)
c.-69+2031G>A (n.-69+2031G>A)
 dbSNP
10g.49611230G>CCA376718865CHAT,SLC18A3c.490G>C (p.Ala164Pro)
c.-69+2031G>C (n.-69+2031G>C)
 gnomAD v4
10g.49611230G=CA1908793163CHAT,SLC18A3c.490G= (p.Ala164=)
c.-69+2031G= (n.-69+2031G=)
10g.49611230G>TCA376718867CHAT,SLC18A3c.490G>T (p.Ala164Ser)
c.-69+2031G>T (n.-69+2031G>T)
 gnomAD v4
10g.49611231C>ACA376718870CHAT,SLC18A3c.491C>A (p.Ala164Asp)
c.-69+2032C>A (n.-69+2032C>A)
10g.49611231C>GCA376718872CHAT,SLC18A3c.491C>G (p.Ala164Gly)
c.-69+2032C>G (n.-69+2032C>G)
10g.49611231C>TCA376718884CHAT,SLC18A3c.491C>T (p.Ala164Val)
c.-69+2032C>T (n.-69+2032C>T)
10g.49611232C>ACA469791573CHAT,SLC18A3c.492C>A (p.Ala164=)
c.-69+2033C>A (n.-69+2033C>A)
10g.49611232C>GCA469791571CHAT,SLC18A3c.492C>G (p.Ala164=)
c.-69+2033C>G (n.-69+2033C>G)
10g.49611232C>TCA469791575CHAT,SLC18A3c.492C>T (p.Ala164=)
c.-69+2033C>T (n.-69+2033C>T)
10g.49611233T>ACA376718888CHAT,SLC18A3c.493T>A (p.Ser165Thr)
c.-69+2034T>A (n.-69+2034T>A)
10g.49611233T>CCA376718891CHAT,SLC18A3c.493T>C (p.Ser165Pro)
c.-69+2034T>C (n.-69+2034T>C)
10g.49611233T>GCA376718893CHAT,SLC18A3c.493T>G (p.Ser165Ala)
c.-69+2034T>G (n.-69+2034T>G)
10g.49611234C>ACA376718898CHAT,SLC18A3c.494C>A (p.Ser165Tyr)
c.-69+2035C>A (n.-69+2035C>A)
10g.49611234C>GCA376718897CHAT,SLC18A3c.494C>G (p.Ser165Cys)
c.-69+2035C>G (n.-69+2035C>G)
 COSMIC
10g.49611234C>TCA376718896CHAT,SLC18A3c.494C>T (p.Ser165Phe)
c.-69+2035C>T (n.-69+2035C>T)
10g.49611235T>ACA469791586CHAT,SLC18A3c.495T>A (p.Ser165=)
c.-69+2036T>A (n.-69+2036T>A)
10g.49611235T>CCA469791587CHAT,SLC18A3c.495T>C (p.Ser165=)
c.-69+2036T>C (n.-69+2036T>C)
10g.49611235T>GCA469791590CHAT,SLC18A3c.495T>G (p.Ser165=)
c.-69+2036T>G (n.-69+2036T>G)
10g.49611236A>CCA376718901CHAT,SLC18A3c.496A>C (p.Thr166Pro)
c.-69+2037A>C (n.-69+2037A>C)
10g.49611236A>GCA376718905CHAT,SLC18A3c.496A>G (p.Thr166Ala)
c.-69+2037A>G (n.-69+2037A>G)
10g.49611236A>TCA376718910CHAT,SLC18A3c.496A>T (p.Thr166Ser)
c.-69+2037A>T (n.-69+2037A>T)
10g.49611237C>ACA376718920CHAT,SLC18A3c.497C>A (p.Thr166Lys)
c.-69+2038C>A (n.-69+2038C>A)
10g.49611237C>GCA376718922CHAT,SLC18A3c.497C>G (p.Thr166Arg)
c.-69+2038C>G (n.-69+2038C>G)
10g.49611237C>TCA376718925CHAT,SLC18A3c.497C>T (p.Thr166Ile)
c.-69+2038C>T (n.-69+2038C>T)
10g.49611237_49611238insGTAGCA2609115320CHAT,SLC18A3c.497_498insGTAG (p.Val167Ter)
c.-69+2038_-69+2039insGTAG (n.-69+2038_-69+2039insGTAG)
 gnomAD v4
10g.49611238A=CA1908793171CHAT,SLC18A3c.498A= (p.Thr166=)
c.-69+2039A= (n.-69+2039A=)
10g.49611238A>CCA469791594CHAT,SLC18A3c.498A>C (p.Thr166=)
c.-69+2039A>C (n.-69+2039A>C)
 gnomAD v3 gnomAD v4
10g.49611238A>GCA5496771CHAT,SLC18A3c.498A>G (p.Thr166=)
c.-69+2039A>G (n.-69+2039A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611238A>TCA469791593CHAT,SLC18A3c.498A>T (p.Thr166=)
c.-69+2039A>T (n.-69+2039A>T)
10g.49611239G>ACA376718931CHAT,SLC18A3c.499G>A (p.Val167Ile)
c.-69+2040G>A (n.-69+2040G>A)
 gnomAD v4
10g.49611239G>CCA376718936CHAT,SLC18A3c.499G>C (p.Val167Leu)
c.-69+2040G>C (n.-69+2040G>C)
10g.49611239G>TCA376718939CHAT,SLC18A3c.499G>T (p.Val167Phe)
c.-69+2040G>T (n.-69+2040G>T)
10g.49611240T>ACA376718940CHAT,SLC18A3c.500T>A (p.Val167Asp)
c.-69+2041T>A (n.-69+2041T>A)
10g.49611240T>CCA376718941CHAT,SLC18A3c.500T>C (p.Val167Ala)
c.-69+2041T>C (n.-69+2041T>C)
 gnomAD v4
10g.49611240T>GCA376718942CHAT,SLC18A3c.500T>G (p.Val167Gly)
c.-69+2041T>G (n.-69+2041T>G)
10g.49611241C>ACA469791602CHAT,SLC18A3c.501C>A (p.Val167=)
c.-69+2042C>A (n.-69+2042C>A)
10g.49611241C>GCA469791604CHAT,SLC18A3c.501C>G (p.Val167=)
c.-69+2042C>G (n.-69+2042C>G)
10g.49611241C>TCA469791603CHAT,SLC18A3c.501C>T (p.Val167=)
c.-69+2042C>T (n.-69+2042C>T)
10g.49611242C>ACA376718943CHAT,SLC18A3c.502C>A (p.Leu168Met)
c.-69+2043C>A (n.-69+2043C>A)
10g.49611242C>GCA376718945CHAT,SLC18A3c.502C>G (p.Leu168Val)
c.-69+2043C>G (n.-69+2043C>G)
10g.49611242C>TCA469791607CHAT,SLC18A3c.502C>T (p.Leu168=)
c.-69+2043C>T (n.-69+2043C>T)
10g.49611243T>ACA376718949CHAT,SLC18A3c.503T>A (p.Leu168Gln)
c.-69+2044T>A (n.-69+2044T>A)
10g.49611243T>CCA376718955CHAT,SLC18A3c.503T>C (p.Leu168Pro)
c.-69+2044T>C (n.-69+2044T>C)
10g.49611243T>GCA376718952CHAT,SLC18A3c.503T>G (p.Leu168Arg)
c.-69+2044T>G (n.-69+2044T>G)
10g.49611244G>ACA469791614CHAT,SLC18A3c.504G>A (p.Leu168=)
c.-69+2045G>A (n.-69+2045G>A)
10g.49611244G>CCA469791612CHAT,SLC18A3c.504G>C (p.Leu168=)
c.-69+2045G>C (n.-69+2045G>C)
10g.49611244G>TCA469791616CHAT,SLC18A3c.504G>T (p.Leu168=)
c.-69+2045G>T (n.-69+2045G>T)
 gnomAD v4
10g.49611245T>ACA376718960CHAT,SLC18A3c.505T>A (p.Phe169Ile)
c.-69+2046T>A (n.-69+2046T>A)
10g.49611245T>CCA376718965CHAT,SLC18A3c.505T>C (p.Phe169Leu)
c.-69+2046T>C (n.-69+2046T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611245T>GCA376718962CHAT,SLC18A3c.505T>G (p.Phe169Val)
c.-69+2046T>G (n.-69+2046T>G)
10g.49611245T=CA1908793177CHAT,SLC18A3c.505T= (p.Phe169=)
c.-69+2046T= (n.-69+2046T=)
10g.49611246T>ACA376718967CHAT,SLC18A3c.506T>A (p.Phe169Tyr)
c.-69+2047T>A (n.-69+2047T>A)
10g.49611246T>CCA376718971CHAT,SLC18A3c.506T>C (p.Phe169Ser)
c.-69+2047T>C (n.-69+2047T>C)
10g.49611246T>GCA376718974CHAT,SLC18A3c.506T>G (p.Phe169Cys)
c.-69+2047T>G (n.-69+2047T>G)
10g.49611247C>ACA376718978CHAT,SLC18A3c.507C>A (p.Phe169Leu)
c.-69+2048C>A (n.-69+2048C>A)
10g.49611247C=CA1908793183CHAT,SLC18A3c.507C= (p.Phe169=)
c.-69+2048C= (n.-69+2048C=)
10g.49611247C>GCA376718980CHAT,SLC18A3c.507C>G (p.Phe169Leu)
c.-69+2048C>G (n.-69+2048C>G)
10g.49611247C>TCA5496772CHAT,SLC18A3c.507C>T (p.Phe169=)
c.-69+2048C>T (n.-69+2048C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611248G>ACA376718989CHAT,SLC18A3c.508G>A (p.Ala170Thr)
c.-69+2049G>A (n.-69+2049G>A)
 COSMIC
10g.49611248G>CCA376718993CHAT,SLC18A3c.508G>C (p.Ala170Pro)
c.-69+2049G>C (n.-69+2049G>C)
 gnomAD v4
10g.49611248G>TCA376718995CHAT,SLC18A3c.508G>T (p.Ala170Ser)
c.-69+2049G>T (n.-69+2049G>T)
10g.49611249C>ACA376719000CHAT,SLC18A3c.509C>A (p.Ala170Asp)
c.-69+2050C>A (n.-69+2050C>A)
10g.49611249C=CA1908793188CHAT,SLC18A3c.509C= (p.Ala170=)
c.-69+2050C= (n.-69+2050C=)
10g.49611249C>GCA376719002CHAT,SLC18A3c.509C>G (p.Ala170Gly)
c.-69+2050C>G (n.-69+2050C>G)
10g.49611249C>TCA376719006CHAT,SLC18A3c.509C>T (p.Ala170Val)
c.-69+2050C>T (n.-69+2050C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611250C>ACA5496773CHAT,SLC18A3c.510C>A (p.Ala170=)
c.-69+2051C>A (n.-69+2051C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611250C=CA1908793191CHAT,SLC18A3c.510C= (p.Ala170=)
c.-69+2051C= (n.-69+2051C=)
10g.49611250C>GCA469791636CHAT,SLC18A3c.510C>G (p.Ala170=)
c.-69+2051C>G (n.-69+2051C>G)
10g.49611250C>TCA469791633CHAT,SLC18A3c.510C>T (p.Ala170=)
c.-69+2051C>T (n.-69+2051C>T)
 gnomAD v4
10g.49611251T>ACA376719011CHAT,SLC18A3c.511T>A (p.Phe171Ile)
c.-69+2052T>A (n.-69+2052T>A)
10g.49611251T>CCA5496774CHAT,SLC18A3c.511T>C (p.Phe171Leu)
c.-69+2052T>C (n.-69+2052T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611251T>GCA376719015CHAT,SLC18A3c.511T>G (p.Phe171Val)
c.-69+2052T>G (n.-69+2052T>G)
10g.49611251T=CA1908793194CHAT,SLC18A3c.511T= (p.Phe171=)
c.-69+2052T= (n.-69+2052T=)
10g.49611252T>ACA376719019CHAT,SLC18A3c.512T>A (p.Phe171Tyr)
c.-69+2053T>A (n.-69+2053T>A)
10g.49611252T>CCA376719023CHAT,SLC18A3c.512T>C (p.Phe171Ser)
c.-69+2053T>C (n.-69+2053T>C)
10g.49611252T>GCA376719025CHAT,SLC18A3c.512T>G (p.Phe171Cys)
c.-69+2053T>G (n.-69+2053T>G)
10g.49611253C>ACA5496776CHAT,SLC18A3c.513C>A (p.Phe171Leu)
c.-69+2054C>A (n.-69+2054C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611253C=CA1908793198CHAT,SLC18A3c.513C= (p.Phe171=)
c.-69+2054C= (n.-69+2054C=)
10g.49611253C>GCA376719031CHAT,SLC18A3c.513C>G (p.Phe171Leu)
c.-69+2054C>G (n.-69+2054C>G)
10g.49611253C>TCA5496775CHAT,SLC18A3c.513C>T (p.Phe171=)
c.-69+2054C>T (n.-69+2054C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611254G>ACA376719037CHAT,SLC18A3c.514G>A (p.Ala172Thr)
c.-69+2055G>A (n.-69+2055G>A)
 COSMIC
10g.49611254G>CCA206621033CHAT,SLC18A3c.514G>C (p.Ala172Pro)
c.-69+2055G>C (n.-69+2055G>C)
 dbSNP gnomAD v4
10g.49611254G=CA1908793202CHAT,SLC18A3c.514G= (p.Ala172=)
c.-69+2055G= (n.-69+2055G=)
10g.49611254G>TCA376719044CHAT,SLC18A3c.514G>T (p.Ala172Ser)
c.-69+2055G>T (n.-69+2055G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611255C>ACA376719056CHAT,SLC18A3c.515C>A (p.Ala172Asp)
c.-69+2056C>A (n.-69+2056C>A)
10g.49611255C=CA1908793206CHAT,SLC18A3c.515C= (p.Ala172=)
c.-69+2056C= (n.-69+2056C=)
10g.49611255C>GCA376719049CHAT,SLC18A3c.515C>G (p.Ala172Gly)
c.-69+2056C>G (n.-69+2056C>G)
10g.49611255C>TCA5496777CHAT,SLC18A3c.515C>T (p.Ala172Val)
c.-69+2056C>T (n.-69+2056C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611256C>ACA469791647CHAT,SLC18A3c.516C>A (p.Ala172=)
c.-69+2057C>A (n.-69+2057C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611256C=CA1908793210CHAT,SLC18A3c.516C= (p.Ala172=)
c.-69+2057C= (n.-69+2057C=)
10g.49611256C>GCA469791645CHAT,SLC18A3c.516C>G (p.Ala172=)
c.-69+2057C>G (n.-69+2057C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611256C>TCA469791648CHAT,SLC18A3c.516C>T (p.Ala172=)
c.-69+2057C>T (n.-69+2057C>T)
 gnomAD v4
10g.49611257G>ACA376719065CHAT,SLC18A3c.517G>A (p.Glu173Lys)
c.-69+2058G>A (n.-69+2058G>A)
 gnomAD v4
10g.49611257G>CCA376719060CHAT,SLC18A3c.517G>C (p.Glu173Gln)
c.-69+2058G>C (n.-69+2058G>C)
 gnomAD v4
10g.49611257G>TCA376719062CHAT,SLC18A3c.517G>T (p.Glu173Ter)
c.-69+2058G>T (n.-69+2058G>T)
10g.49611258A>CCA376719070CHAT,SLC18A3c.518A>C (p.Glu173Ala)
c.-69+2059A>C (n.-69+2059A>C)
10g.49611258A>GCA376719071CHAT,SLC18A3c.518A>G (p.Glu173Gly)
c.-69+2059A>G (n.-69+2059A>G)
10g.49611258A>TCA376719074CHAT,SLC18A3c.518A>T (p.Glu173Val)
c.-69+2059A>T (n.-69+2059A>T)
10g.49611259G>ACA5496778CHAT,SLC18A3c.519G>A (p.Glu173=)
c.-69+2060G>A (n.-69+2060G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611259G>CCA376719082CHAT,SLC18A3c.519G>C (p.Glu173Asp)
c.-69+2060G>C (n.-69+2060G>C)
10g.49611259G=CA1908793217CHAT,SLC18A3c.519G= (p.Glu173=)
c.-69+2060G= (n.-69+2060G=)
10g.49611259G>TCA376719085CHAT,SLC18A3c.519G>T (p.Glu173Asp)
c.-69+2060G>T (n.-69+2060G>T)
10g.49611260G>ACA376719088CHAT,SLC18A3c.520G>A (p.Asp174Asn)
c.-69+2061G>A (n.-69+2061G>A)
 gnomAD v4 COSMIC
10g.49611260G>CCA376719090CHAT,SLC18A3c.520G>C (p.Asp174His)
c.-69+2061G>C (n.-69+2061G>C)
 dbSNP
10g.49611260G=CA1908793221CHAT,SLC18A3c.520G= (p.Asp174=)
c.-69+2061G= (n.-69+2061G=)
10g.49611260G>TCA376719094CHAT,SLC18A3c.520G>T (p.Asp174Tyr)
c.-69+2061G>T (n.-69+2061G>T)
 gnomAD v4
10g.49611261A=CA1908793223CHAT,SLC18A3c.521A= (p.Asp174=)
c.-69+2062A= (n.-69+2062A=)
10g.49611261A>CCA376719097CHAT,SLC18A3c.521A>C (p.Asp174Ala)
c.-69+2062A>C (n.-69+2062A>C)
10g.49611261A>GCA376719100CHAT,SLC18A3c.521A>G (p.Asp174Gly)
c.-69+2062A>G (n.-69+2062A>G)
10g.49611261A>TCA376719103CHAT,SLC18A3c.521A>T (p.Asp174Val)
c.-69+2062A>T (n.-69+2062A>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611262C>ACA376719109CHAT,SLC18A3c.522C>A (p.Asp174Glu)
c.-69+2063C>A (n.-69+2063C>A)
10g.49611262C>GCA376719112CHAT,SLC18A3c.522C>G (p.Asp174Glu)
c.-69+2063C>G (n.-69+2063C>G)
10g.49611262C>TCA469791668CHAT,SLC18A3c.522C>T (p.Asp174=)
c.-69+2063C>T (n.-69+2063C>T)
10g.49611263T>ACA376719115CHAT,SLC18A3c.523T>A (p.Tyr175Asn)
c.-69+2064T>A (n.-69+2064T>A)
10g.49611263T>CCA376719118CHAT,SLC18A3c.523T>C (p.Tyr175His)
c.-69+2064T>C (n.-69+2064T>C)
10g.49611263T>GCA376719121CHAT,SLC18A3c.523T>G (p.Tyr175Asp)
c.-69+2064T>G (n.-69+2064T>G)
10g.49611264A=CA1908793228CHAT,SLC18A3c.524A= (p.Tyr175=)
c.-69+2065A= (n.-69+2065A=)
10g.49611264A>CCA376719125CHAT,SLC18A3c.524A>C (p.Tyr175Ser)
c.-69+2065A>C (n.-69+2065A>C)
10g.49611264A>GCA206621043CHAT,SLC18A3c.524A>G (p.Tyr175Cys)
c.-69+2065A>G (n.-69+2065A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611264A>TCA376719130CHAT,SLC18A3c.524A>T (p.Tyr175Phe)
c.-69+2065A>T (n.-69+2065A>T)
10g.49611265C>ACA376719134CHAT,SLC18A3c.525C>A (p.Tyr175Ter)
c.-69+2066C>A (n.-69+2066C>A)
10g.49611265C=CA1908793231CHAT,SLC18A3c.525C= (p.Tyr175=)
c.-69+2066C= (n.-69+2066C=)
10g.49611265C>GCA376719137CHAT,SLC18A3c.525C>G (p.Tyr175Ter)
c.-69+2066C>G (n.-69+2066C>G)
10g.49611265C>TCA5496779CHAT,SLC18A3c.525C>T (p.Tyr175=)
c.-69+2066C>T (n.-69+2066C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611266G>ACA376719144CHAT,SLC18A3c.526G>A (p.Ala176Thr)
c.-69+2067G>A (n.-69+2067G>A)
 dbSNP gnomAD v4
10g.49611266G>CCA376719146CHAT,SLC18A3c.526G>C (p.Ala176Pro)
c.-69+2067G>C (n.-69+2067G>C)
10g.49611266G=CA1908793233CHAT,SLC18A3c.526G= (p.Ala176=)
c.-69+2067G= (n.-69+2067G=)
10g.49611266G>TCA376719148CHAT,SLC18A3c.526G>T (p.Ala176Ser)
c.-69+2067G>T (n.-69+2067G>T)
10g.49611267C>ACA376719154CHAT,SLC18A3c.527C>A (p.Ala176Asp)
c.-69+2068C>A (n.-69+2068C>A)
10g.49611267C>GCA376719157CHAT,SLC18A3c.527C>G (p.Ala176Gly)
c.-69+2068C>G (n.-69+2068C>G)
10g.49611267C>TCA376719152CHAT,SLC18A3c.527C>T (p.Ala176Val)
c.-69+2068C>T (n.-69+2068C>T)
10g.49611268C>ACA469791686CHAT,SLC18A3c.528C>A (p.Ala176=)
c.-69+2069C>A (n.-69+2069C>A)
10g.49611268C=CA1908793236CHAT,SLC18A3c.528C= (p.Ala176=)
c.-69+2069C= (n.-69+2069C=)
10g.49611268C>GCA469791683CHAT,SLC18A3c.528C>G (p.Ala176=)
c.-69+2069C>G (n.-69+2069C>G)
10g.49611268C>TCA469791684CHAT,SLC18A3c.528C>T (p.Ala176=)
c.-69+2069C>T (n.-69+2069C>T)
 dbSNP gnomAD v2
10g.49611269delCA2609115411CHAT,SLC18A3c.529del (p.Thr177ArgfsTer21)
c.-69+2070del (n.-69+2070del)
 gnomAD v4
10g.49611269A>CCA376719162CHAT,SLC18A3c.529A>C (p.Thr177Pro)
c.-69+2070A>C (n.-69+2070A>C)
10g.49611269A>GCA376719168CHAT,SLC18A3c.529A>G (p.Thr177Ala)
c.-69+2070A>G (n.-69+2070A>G)
 gnomAD v4
10g.49611269A>TCA376719164CHAT,SLC18A3c.529A>T (p.Thr177Ser)
c.-69+2070A>T (n.-69+2070A>T)
10g.49611270C>ACA5496781CHAT,SLC18A3c.530C>A (p.Thr177Lys)
c.-69+2071C>A (n.-69+2071C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611270C=CA1908793239CHAT,SLC18A3c.530C= (p.Thr177=)
c.-69+2071C= (n.-69+2071C=)
10g.49611270C>GCA376719174CHAT,SLC18A3c.530C>G (p.Thr177Arg)
c.-69+2071C>G (n.-69+2071C>G)
10g.49611270C>TCA5496780CHAT,SLC18A3c.530C>T (p.Thr177Met)
c.-69+2071C>T (n.-69+2071C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611271G>ACA469791694CHAT,SLC18A3c.531G>A (p.Thr177=)
c.-69+2072G>A (n.-69+2072G>A)
 gnomAD v4 COSMIC
10g.49611271G>CCA469791701CHAT,SLC18A3c.531G>C (p.Thr177=)
c.-69+2072G>C (n.-69+2072G>C)
 gnomAD v4
10g.49611271G=CA1908793241CHAT,SLC18A3c.531G= (p.Thr177=)
c.-69+2072G= (n.-69+2072G=)
10g.49611271G>TCA469791700CHAT,SLC18A3c.531G>T (p.Thr177=)
c.-69+2072G>T (n.-69+2072G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611272C>ACA376719178CHAT,SLC18A3c.532C>A (p.Leu178Met)
c.-69+2073C>A (n.-69+2073C>A)
10g.49611272C>GCA376719181CHAT,SLC18A3c.532C>G (p.Leu178Val)
c.-69+2073C>G (n.-69+2073C>G)
10g.49611272C>TCA469791704CHAT,SLC18A3c.532C>T (p.Leu178=)
c.-69+2073C>T (n.-69+2073C>T)
10g.49611273T>ACA376719186CHAT,SLC18A3c.533T>A (p.Leu178Gln)
c.-69+2074T>A (n.-69+2074T>A)
10g.49611273T>CCA376719189CHAT,SLC18A3c.533T>C (p.Leu178Pro)
c.-69+2074T>C (n.-69+2074T>C)
10g.49611273T>GCA376719190CHAT,SLC18A3c.533T>G (p.Leu178Arg)
c.-69+2074T>G (n.-69+2074T>G)
10g.49611274G>ACA5496782CHAT,SLC18A3c.534G>A (p.Leu178=)
c.-69+2075G>A (n.-69+2075G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611274G>CCA469791709CHAT,SLC18A3c.534G>C (p.Leu178=)
c.-69+2075G>C (n.-69+2075G>C)
 ClinVar dbSNP gnomAD v4
10g.49611274G=CA1908793243CHAT,SLC18A3c.534G= (p.Leu178=)
c.-69+2075G= (n.-69+2075G=)
10g.49611274G>TCA469791712CHAT,SLC18A3c.534G>T (p.Leu178=)
c.-69+2075G>T (n.-69+2075G>T)
10g.49611275T>ACA376719196CHAT,SLC18A3c.535T>A (p.Phe179Ile)
c.-69+2076T>A (n.-69+2076T>A)
10g.49611275T>CCA376719199CHAT,SLC18A3c.535T>C (p.Phe179Leu)
c.-69+2076T>C (n.-69+2076T>C)
10g.49611275T>GCA376719202CHAT,SLC18A3c.535T>G (p.Phe179Val)
c.-69+2076T>G (n.-69+2076T>G)
10g.49611276T>ACA376719207CHAT,SLC18A3c.536T>A (p.Phe179Tyr)
c.-69+2077T>A (n.-69+2077T>A)
10g.49611276T>CCA376719213CHAT,SLC18A3c.536T>C (p.Phe179Ser)
c.-69+2077T>C (n.-69+2077T>C)
10g.49611276T>GCA376719209CHAT,SLC18A3c.536T>G (p.Phe179Cys)
c.-69+2077T>G (n.-69+2077T>G)
10g.49611277C>ACA376719216CHAT,SLC18A3c.537C>A (p.Phe179Leu)
c.-69+2078C>A (n.-69+2078C>A)
 gnomAD v4
10g.49611277C>GCA376719218CHAT,SLC18A3c.537C>G (p.Phe179Leu)
c.-69+2078C>G (n.-69+2078C>G)
10g.49611277C>TCA469791723CHAT,SLC18A3c.537C>T (p.Phe179=)
c.-69+2078C>T (n.-69+2078C>T)
 gnomAD v4 COSMIC
10g.49611278G>ACA376719223CHAT,SLC18A3c.538G>A (p.Ala180Thr)
c.-69+2079G>A (n.-69+2079G>A)
10g.49611278G>CCA376719225CHAT,SLC18A3c.538G>C (p.Ala180Pro)
c.-69+2079G>C (n.-69+2079G>C)
10g.49611278G>TCA376719227CHAT,SLC18A3c.538G>T (p.Ala180Ser)
c.-69+2079G>T (n.-69+2079G>T)
 gnomAD v4
10g.49611279C>ACA376719231CHAT,SLC18A3c.539C>A (p.Ala180Glu)
c.-69+2080C>A (n.-69+2080C>A)
10g.49611279C=CA1908793252CHAT,SLC18A3c.539C= (p.Ala180=)
c.-69+2080C= (n.-69+2080C=)
10g.49611279C>GCA5496783CHAT,SLC18A3c.539C>G (p.Ala180Gly)
c.-69+2080C>G (n.-69+2080C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611279C>TCA376719235CHAT,SLC18A3c.539C>T (p.Ala180Val)
c.-69+2080C>T (n.-69+2080C>T)
 COSMIC
10g.49611280G>ACA469791730CHAT,SLC18A3c.540G>A (p.Ala180=)
c.-69+2081G>A (n.-69+2081G>A)
10g.49611280G>CCA5496784CHAT,SLC18A3c.540G>C (p.Ala180=)
c.-69+2081G>C (n.-69+2081G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611280G=CA1908793255CHAT,SLC18A3c.540G= (p.Ala180=)
c.-69+2081G= (n.-69+2081G=)
10g.49611280G>TCA469791732CHAT,SLC18A3c.540G>T (p.Ala180=)
c.-69+2081G>T (n.-69+2081G>T)
 gnomAD v4
10g.49611281G>ACA376719246CHAT,SLC18A3c.541G>A (p.Ala181Thr)
c.-69+2082G>A (n.-69+2082G>A)
10g.49611281G>CCA376719244CHAT,SLC18A3c.541G>C (p.Ala181Pro)
c.-69+2082G>C (n.-69+2082G>C)
10g.49611281G>TCA376719241CHAT,SLC18A3c.541G>T (p.Ala181Ser)
c.-69+2082G>T (n.-69+2082G>T)
 gnomAD v4
10g.49611282C>ACA376719249CHAT,SLC18A3c.542C>A (p.Ala181Glu)
c.-69+2083C>A (n.-69+2083C>A)
 gnomAD v4
10g.49611282C>GCA376719251CHAT,SLC18A3c.542C>G (p.Ala181Gly)
c.-69+2083C>G (n.-69+2083C>G)
10g.49611282C>TCA376719257CHAT,SLC18A3c.542C>T (p.Ala181Val)
c.-69+2083C>T (n.-69+2083C>T)
 gnomAD v4
10g.49611283G>ACA469791739CHAT,SLC18A3c.543G>A (p.Ala181=)
c.-69+2084G>A (n.-69+2084G>A)
 gnomAD v4
10g.49611283G>CCA469791741CHAT,SLC18A3c.543G>C (p.Ala181=)
c.-69+2084G>C (n.-69+2084G>C)
10g.49611283G=CA1908793259CHAT,SLC18A3c.543G= (p.Ala181=)
c.-69+2084G= (n.-69+2084G=)
10g.49611283G>TCA5496785CHAT,SLC18A3c.543G>T (p.Ala181=)
c.-69+2084G>T (n.-69+2084G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611284C>ACA376719263CHAT,SLC18A3c.544C>A (p.Arg182Ser)
c.-69+2085C>A (n.-69+2085C>A)
 gnomAD v4
10g.49611284C>GCA376719266CHAT,SLC18A3c.544C>G (p.Arg182Gly)
c.-69+2085C>G (n.-69+2085C>G)
10g.49611284C>TCA376719268CHAT,SLC18A3c.544C>T (p.Arg182Cys)
c.-69+2085C>T (n.-69+2085C>T)
 gnomAD v4 COSMIC
10g.49611285G>ACA376719273CHAT,SLC18A3c.545G>A (p.Arg182His)
c.-69+2086G>A (n.-69+2086G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611285G>CCA376719274CHAT,SLC18A3c.545G>C (p.Arg182Pro)
c.-69+2086G>C (n.-69+2086G>C)
10g.49611285G=CA1908793260CHAT,SLC18A3c.545G= (p.Arg182=)
c.-69+2086G= (n.-69+2086G=)
10g.49611285G>TCA376719278CHAT,SLC18A3c.545G>T (p.Arg182Leu)
c.-69+2086G>T (n.-69+2086G>T)
 gnomAD v4
10g.49611286C>ACA469791748CHAT,SLC18A3c.546C>A (p.Arg182=)
c.-69+2087C>A (n.-69+2087C>A)
10g.49611286C>GCA469791750CHAT,SLC18A3c.546C>G (p.Arg182=)
c.-69+2087C>G (n.-69+2087C>G)
10g.49611286C>TCA469791747CHAT,SLC18A3c.546C>T (p.Arg182=)
c.-69+2087C>T (n.-69+2087C>T)
 gnomAD v4
10g.49611287A=CA1908793263CHAT,SLC18A3c.547A= (p.Ser183=)
c.-69+2088A= (n.-69+2088A=)
10g.49611287A>CCA376719281CHAT,SLC18A3c.547A>C (p.Ser183Arg)
c.-69+2088A>C (n.-69+2088A>C)
10g.49611287A>GCA376719284CHAT,SLC18A3c.547A>G (p.Ser183Gly)
c.-69+2088A>G (n.-69+2088A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611287A>TCA376719286CHAT,SLC18A3c.547A>T (p.Ser183Cys)
c.-69+2088A>T (n.-69+2088A>T)
10g.49611288G>ACA376719290CHAT,SLC18A3c.548G>A (p.Ser183Asn)
c.-69+2089G>A (n.-69+2089G>A)
10g.49611288G>CCA376719297CHAT,SLC18A3c.548G>C (p.Ser183Thr)
c.-69+2089G>C (n.-69+2089G>C)
10g.49611288G>TCA376719294CHAT,SLC18A3c.548G>T (p.Ser183Ile)
c.-69+2089G>T (n.-69+2089G>T)
 gnomAD v4
10g.49611289C>ACA376719299CHAT,SLC18A3c.549C>A (p.Ser183Arg)
c.-69+2090C>A (n.-69+2090C>A)
10g.49611289C=CA1908793268CHAT,SLC18A3c.549C= (p.Ser183=)
c.-69+2090C= (n.-69+2090C=)
10g.49611289C>GCA376719302CHAT,SLC18A3c.549C>G (p.Ser183Arg)
c.-69+2090C>G (n.-69+2090C>G)
10g.49611289C>TCA5496786CHAT,SLC18A3c.549C>T (p.Ser183=)
c.-69+2090C>T (n.-69+2090C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611290delCA2574545084CHAT,SLC18A3c.550del (p.Leu184CysfsTer14)
c.-69+2091del (n.-69+2091del)
10g.49611290C>ACA376719308CHAT,SLC18A3c.550C>A (p.Leu184Met)
c.-69+2091C>A (n.-69+2091C>A)
10g.49611290C>GCA376719310CHAT,SLC18A3c.550C>G (p.Leu184Val)
c.-69+2091C>G (n.-69+2091C>G)
10g.49611290C>TCA469791264CHAT,SLC18A3c.550C>T (p.Leu184=)
c.-69+2091C>T (n.-69+2091C>T)
10g.49611291T>ACA376719314CHAT,SLC18A3c.551T>A (p.Leu184Gln)
c.-69+2092T>A (n.-69+2092T>A)
10g.49611291T>CCA376719316CHAT,SLC18A3c.551T>C (p.Leu184Pro)
c.-69+2092T>C (n.-69+2092T>C)
 gnomAD v4
10g.49611291T>GCA5496787CHAT,SLC18A3c.551T>G (p.Leu184Arg)
c.-69+2092T>G (n.-69+2092T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611291T=CA1908793273CHAT,SLC18A3c.551T= (p.Leu184=)
c.-69+2092T= (n.-69+2092T=)
10g.49611292G>ACA469791268CHAT,SLC18A3c.552G>A (p.Leu184=)
c.-69+2093G>A (n.-69+2093G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611292G>CCA469791270CHAT,SLC18A3c.552G>C (p.Leu184=)
c.-69+2093G>C (n.-69+2093G>C)
10g.49611292G=CA1908793277CHAT,SLC18A3c.552G= (p.Leu184=)
c.-69+2093G= (n.-69+2093G=)
10g.49611292G>TCA469791269CHAT,SLC18A3c.552G>T (p.Leu184=)
c.-69+2093G>T (n.-69+2093G>T)
10g.49611293C>ACA376719322CHAT,SLC18A3c.553C>A (p.Gln185Lys)
c.-69+2094C>A (n.-69+2094C>A)
 gnomAD v4
10g.49611293C>GCA376719324CHAT,SLC18A3c.553C>G (p.Gln185Glu)
c.-69+2094C>G (n.-69+2094C>G)
10g.49611293C>TCA376719327CHAT,SLC18A3c.553C>T (p.Gln185Ter)
c.-69+2094C>T (n.-69+2094C>T)
10g.49611294A>CCA376719334CHAT,SLC18A3c.554A>C (p.Gln185Pro)
c.-69+2095A>C (n.-69+2095A>C)
10g.49611294A>GCA376719337CHAT,SLC18A3c.554A>G (p.Gln185Arg)
c.-69+2095A>G (n.-69+2095A>G)
 gnomAD v4
10g.49611294A>TCA376719333CHAT,SLC18A3c.554A>T (p.Gln185Leu)
c.-69+2095A>T (n.-69+2095A>T)
10g.49611295G>ACA469791273CHAT,SLC18A3c.555G>A (p.Gln185=)
c.-69+2096G>A (n.-69+2096G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611295G>CCA376719343CHAT,SLC18A3c.555G>C (p.Gln185His)
c.-69+2096G>C (n.-69+2096G>C)
10g.49611295G=CA1908793281CHAT,SLC18A3c.555G= (p.Gln185=)
c.-69+2096G= (n.-69+2096G=)
10g.49611295G>TCA376719341CHAT,SLC18A3c.555G>T (p.Gln185His)
c.-69+2096G>T (n.-69+2096G>T)
 gnomAD v4
10g.49611296G>ACA376719356CHAT,SLC18A3c.556G>A (p.Gly186Ser)
c.-69+2097G>A (n.-69+2097G>A)
 gnomAD v4
10g.49611296G>CCA376719348CHAT,SLC18A3c.556G>C (p.Gly186Arg)
c.-69+2097G>C (n.-69+2097G>C)
10g.49611296G>TCA376719352CHAT,SLC18A3c.556G>T (p.Gly186Cys)
c.-69+2097G>T (n.-69+2097G>T)
 gnomAD v4
10g.49611297G>ACA376719360CHAT,SLC18A3c.557G>A (p.Gly186Asp)
c.-69+2098G>A (n.-69+2098G>A)
10g.49611297G>CCA16042221CHAT,SLC18A3c.557G>C (p.Gly186Ala)
c.-69+2098G>C (n.-69+2098G>C)
 ClinVar dbSNP gnomAD v4
10g.49611297G=CA1908793289CHAT,SLC18A3c.557G= (p.Gly186=)
c.-69+2098G= (n.-69+2098G=)
10g.49611297G>TCA376719363CHAT,SLC18A3c.557G>T (p.Gly186Val)
c.-69+2098G>T (n.-69+2098G>T)
 gnomAD v4
10g.49611298C>ACA469791280CHAT,SLC18A3c.558C>A (p.Gly186=)
c.-69+2099C>A (n.-69+2099C>A)
10g.49611298C>GCA469791279CHAT,SLC18A3c.558C>G (p.Gly186=)
c.-69+2099C>G (n.-69+2099C>G)
10g.49611298C>TCA469791281CHAT,SLC18A3c.558C>T (p.Gly186=)
c.-69+2099C>T (n.-69+2099C>T)
 gnomAD v4
10g.49611299C>ACA376719366CHAT,SLC18A3c.559C>A (p.Leu187Met)
c.-69+2100C>A (n.-69+2100C>A)
 COSMIC
10g.49611299C>GCA376719371CHAT,SLC18A3c.559C>G (p.Leu187Val)
c.-69+2100C>G (n.-69+2100C>G)
10g.49611299C>TCA469791283CHAT,SLC18A3c.559C>T (p.Leu187=)
c.-69+2100C>T (n.-69+2100C>T)
 gnomAD v4
10g.49611300T>ACA376719375CHAT,SLC18A3c.560T>A (p.Leu187Gln)
c.-69+2101T>A (n.-69+2101T>A)
10g.49611300T>CCA376719377CHAT,SLC18A3c.560T>C (p.Leu187Pro)
c.-69+2101T>C (n.-69+2101T>C)
10g.49611300T>GCA376719381CHAT,SLC18A3c.560T>G (p.Leu187Arg)
c.-69+2101T>G (n.-69+2101T>G)
10g.49611301G>ACA469791290CHAT,SLC18A3c.561G>A (p.Leu187=)
c.-69+2102G>A (n.-69+2102G>A)
10g.49611301G>CCA469791291CHAT,SLC18A3c.561G>C (p.Leu187=)
c.-69+2102G>C (n.-69+2102G>C)
 COSMIC
10g.49611301G>TCA469791289CHAT,SLC18A3c.561G>T (p.Leu187=)
c.-69+2102G>T (n.-69+2102G>T)
10g.49611302G>ACA376719391CHAT,SLC18A3c.562G>A (p.Gly188Ser)
c.-69+2103G>A (n.-69+2103G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611302G>CCA5496788CHAT,SLC18A3c.562G>C (p.Gly188Arg)
c.-69+2103G>C (n.-69+2103G>C)
 dbSNP ExAC gnomAD v2
10g.49611302G=CA1908793302CHAT,SLC18A3c.562G= (p.Gly188=)
c.-69+2103G= (n.-69+2103G=)
10g.49611302G>TCA376719385CHAT,SLC18A3c.562G>T (p.Gly188Cys)
c.-69+2103G>T (n.-69+2103G>T)
 gnomAD v4
10g.49611303G>ACA376719393CHAT,SLC18A3c.563G>A (p.Gly188Asp)
c.-69+2104G>A (n.-69+2104G>A)
 gnomAD v4
10g.49611303G>CCA376719397CHAT,SLC18A3c.563G>C (p.Gly188Ala)
c.-69+2104G>C (n.-69+2104G>C)
10g.49611303G=CA1908793306CHAT,SLC18A3c.563G= (p.Gly188=)
c.-69+2104G= (n.-69+2104G=)
10g.49611303G>TCA376719401CHAT,SLC18A3c.563G>T (p.Gly188Val)
c.-69+2104G>T (n.-69+2104G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611305_49611309delCA2574545085CHAT,SLC18A3c.565_569del (p.Ser189LeufsTer13)
c.-69+2106_-69+2110del (n.-69+2106_-69+2110del)
10g.49611304C>ACA469791298CHAT,SLC18A3c.564C>A (p.Gly188=)
c.-69+2105C>A (n.-69+2105C>A)
10g.49611304C>GCA469791299CHAT,SLC18A3c.564C>G (p.Gly188=)
c.-69+2105C>G (n.-69+2105C>G)
10g.49611304C>TCA469791297CHAT,SLC18A3c.564C>T (p.Gly188=)
c.-69+2105C>T (n.-69+2105C>T)

Number of alleles fetched