Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611471_49611482delCA2609116067CHAT,SLC18A3c.731_742del (p.Pro244_Val247del)
c.-69+2272_-69+2283del (n.-69+2272_-69+2283del)
 gnomAD v4
10g.49611477T>ACA376720550CHAT,SLC18A3c.737T>A (p.Leu246Ter)
c.-69+2278T>A (n.-69+2278T>A)
10g.49611477T>CCA376720552CHAT,SLC18A3c.737T>C (p.Leu246Ser)
c.-69+2278T>C (n.-69+2278T>C)
10g.49611477T>GCA376720554CHAT,SLC18A3c.737T>G (p.Leu246Trp)
c.-69+2278T>G (n.-69+2278T>G)
10g.49611477_49611478delinsTGCA1908793896CHAT,SLC18A3c.737_738delinsTG (p.Leu246=)
c.-69+2278_-69+2279delinsTG (n.-69+2278_-69+2279delinsTG)
10g.49611478G>ACA469791834CHAT,SLC18A3c.738G>A (p.Leu246=)
c.-69+2279G>A (n.-69+2279G>A)
10g.49611478G>CCA376720557CHAT,SLC18A3c.738G>C (p.Leu246Phe)
c.-69+2279G>C (n.-69+2279G>C)
 dbSNP gnomAD v4
10g.49611478G=CA1908793907CHAT,SLC18A3c.738G= (p.Leu246=)
c.-69+2279G= (n.-69+2279G=)
10g.49611478G>TCA376720558CHAT,SLC18A3c.738G>T (p.Leu246Phe)
c.-69+2279G>T (n.-69+2279G>T)
 COSMIC
10g.49611479delCA1908793903CHAT,SLC18A3c.739del (p.Val247CysfsTer2)
c.-69+2280del (n.-69+2280del)
 dbSNP
10g.49611479G>ACA376720563CHAT,SLC18A3c.739G>A (p.Val247Met)
c.-69+2280G>A (n.-69+2280G>A)
10g.49611479G>CCA376720565CHAT,SLC18A3c.739G>C (p.Val247Leu)
c.-69+2280G>C (n.-69+2280G>C)
10g.49611479G>TCA376720561CHAT,SLC18A3c.739G>T (p.Val247Leu)
c.-69+2280G>T (n.-69+2280G>T)
10g.49611480T>ACA376720567CHAT,SLC18A3c.740T>A (p.Val247Glu)
c.-69+2281T>A (n.-69+2281T>A)
10g.49611480T>CCA376720568CHAT,SLC18A3c.740T>C (p.Val247Ala)
c.-69+2281T>C (n.-69+2281T>C)
10g.49611480T>GCA376720571CHAT,SLC18A3c.740T>G (p.Val247Gly)
c.-69+2281T>G (n.-69+2281T>G)
10g.49611481G>ACA469791839CHAT,SLC18A3c.741G>A (p.Val247=)
c.-69+2282G>A (n.-69+2282G>A)
10g.49611481G>CCA469791837CHAT,SLC18A3c.741G>C (p.Val247=)
c.-69+2282G>C (n.-69+2282G>C)
10g.49611481G=CA1908793911CHAT,SLC18A3c.741G= (p.Val247=)
c.-69+2282G= (n.-69+2282G=)
10g.49611481G>TCA206621181CHAT,SLC18A3c.741G>T (p.Val247=)
c.-69+2282G>T (n.-69+2282G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611482C>ACA376720573CHAT,SLC18A3c.742C>A (p.Leu248Ile)
c.-69+2283C>A (n.-69+2283C>A)
10g.49611482C>GCA376720574CHAT,SLC18A3c.742C>G (p.Leu248Val)
c.-69+2283C>G (n.-69+2283C>G)
10g.49611482C>TCA469791842CHAT,SLC18A3c.742C>T (p.Leu248=)
c.-69+2283C>T (n.-69+2283C>T)
 gnomAD v4
10g.49611483T>ACA376720580CHAT,SLC18A3c.743T>A (p.Leu248Gln)
c.-69+2284T>A (n.-69+2284T>A)
10g.49611483T>CCA376720577CHAT,SLC18A3c.743T>C (p.Leu248Pro)
c.-69+2284T>C (n.-69+2284T>C)
10g.49611483T>GCA376720579CHAT,SLC18A3c.743T>G (p.Leu248Arg)
c.-69+2284T>G (n.-69+2284T>G)
10g.49611484A>CCA469791852CHAT,SLC18A3c.744A>C (p.Leu248=)
c.-69+2285A>C (n.-69+2285A>C)
 gnomAD v4
10g.49611484A>GCA469791853CHAT,SLC18A3c.744A>G (p.Leu248=)
c.-69+2285A>G (n.-69+2285A>G)
10g.49611484A>TCA469791851CHAT,SLC18A3c.744A>T (p.Leu248=)
c.-69+2285A>T (n.-69+2285A>T)
10g.49611485G>ACA376720583CHAT,SLC18A3c.745G>A (p.Ala249Thr)
c.-69+2286G>A (n.-69+2286G>A)
10g.49611485G>CCA376720585CHAT,SLC18A3c.745G>C (p.Ala249Pro)
c.-69+2286G>C (n.-69+2286G>C)
 dbSNP
10g.49611485G=CA1908793915CHAT,SLC18A3c.745G= (p.Ala249=)
c.-69+2286G= (n.-69+2286G=)
10g.49611485G>TCA376720587CHAT,SLC18A3c.745G>T (p.Ala249Ser)
c.-69+2286G>T (n.-69+2286G>T)
 gnomAD v4
10g.49611486C>ACA376720590CHAT,SLC18A3c.746C>A (p.Ala249Asp)
c.-69+2287C>A (n.-69+2287C>A)
 gnomAD v4
10g.49611486C>GCA376720592CHAT,SLC18A3c.746C>G (p.Ala249Gly)
c.-69+2287C>G (n.-69+2287C>G)
10g.49611486C>TCA376720595CHAT,SLC18A3c.746C>T (p.Ala249Val)
c.-69+2287C>T (n.-69+2287C>T)
10g.49611487T>ACA469791863CHAT,SLC18A3c.747T>A (p.Ala249=)
c.-69+2288T>A (n.-69+2288T>A)
10g.49611487T>CCA469791862CHAT,SLC18A3c.747T>C (p.Ala249=)
c.-69+2288T>C (n.-69+2288T>C)
10g.49611487T>GCA469791861CHAT,SLC18A3c.747T>G (p.Ala249=)
c.-69+2288T>G (n.-69+2288T>G)
10g.49611488G>ACA376720602CHAT,SLC18A3c.748G>A (p.Ala250Thr)
c.-69+2289G>A (n.-69+2289G>A)
10g.49611488G>CCA376720599CHAT,SLC18A3c.748G>C (p.Ala250Pro)
c.-69+2289G>C (n.-69+2289G>C)
10g.49611488G>TCA376720597CHAT,SLC18A3c.748G>T (p.Ala250Ser)
c.-69+2289G>T (n.-69+2289G>T)
10g.49611489C>ACA376720607CHAT,SLC18A3c.749C>A (p.Ala250Asp)
c.-69+2290C>A (n.-69+2290C>A)
10g.49611489C=CA1908793921CHAT,SLC18A3c.749C= (p.Ala250=)
c.-69+2290C= (n.-69+2290C=)
10g.49611489C>GCA376720604CHAT,SLC18A3c.749C>G (p.Ala250Gly)
c.-69+2290C>G (n.-69+2290C>G)
10g.49611489C>TCA376720608CHAT,SLC18A3c.749C>T (p.Ala250Val)
c.-69+2290C>T (n.-69+2290C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611490C>ACA5496832CHAT,SLC18A3c.750C>A (p.Ala250=)
c.-69+2291C>A (n.-69+2291C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611490C=CA1908793927CHAT,SLC18A3c.750C= (p.Ala250=)
c.-69+2291C= (n.-69+2291C=)
10g.49611490C>GCA469791869CHAT,SLC18A3c.750C>G (p.Ala250=)
c.-69+2291C>G (n.-69+2291C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611490C>TCA206621186CHAT,SLC18A3c.750C>T (p.Ala250=)
c.-69+2291C>T (n.-69+2291C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611491G>ACA376720613CHAT,SLC18A3c.751G>A (p.Val251Met)
c.-69+2292G>A (n.-69+2292G>A)
 dbSNP gnomAD v4
10g.49611491G>CCA376720615CHAT,SLC18A3c.751G>C (p.Val251Leu)
c.-69+2292G>C (n.-69+2292G>C)
 gnomAD v4
10g.49611491G=CA1908793937CHAT,SLC18A3c.751G= (p.Val251=)
c.-69+2292G= (n.-69+2292G=)
10g.49611491G>TCA376720617CHAT,SLC18A3c.751G>T (p.Val251Leu)
c.-69+2292G>T (n.-69+2292G>T)
 COSMIC
10g.49611492T>ACA376720621CHAT,SLC18A3c.752T>A (p.Val251Glu)
c.-69+2293T>A (n.-69+2293T>A)
10g.49611492T>CCA376720622CHAT,SLC18A3c.752T>C (p.Val251Ala)
c.-69+2293T>C (n.-69+2293T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611492T>GCA376720624CHAT,SLC18A3c.752T>G (p.Val251Gly)
c.-69+2293T>G (n.-69+2293T>G)
 gnomAD v4
10g.49611492T=CA1908793940CHAT,SLC18A3c.752T= (p.Val251=)
c.-69+2293T= (n.-69+2293T=)
10g.49611493G>ACA469791876CHAT,SLC18A3c.753G>A (p.Val251=)
c.-69+2294G>A (n.-69+2294G>A)
10g.49611493G>CCA469791875CHAT,SLC18A3c.753G>C (p.Val251=)
c.-69+2294G>C (n.-69+2294G>C)
10g.49611493G=CA1908793948CHAT,SLC18A3c.753G= (p.Val251=)
c.-69+2294G= (n.-69+2294G=)
10g.49611493G>TCA469791874CHAT,SLC18A3c.753G>T (p.Val251=)
c.-69+2294G>T (n.-69+2294G>T)
 dbSNP
10g.49611494T>ACA376720626CHAT,SLC18A3c.754T>A (p.Ser252Thr)
c.-69+2295T>A (n.-69+2295T>A)
 gnomAD v4
10g.49611494T>CCA376720627CHAT,SLC18A3c.754T>C (p.Ser252Pro)
c.-69+2295T>C (n.-69+2295T>C)
10g.49611494T>GCA376720630CHAT,SLC18A3c.754T>G (p.Ser252Ala)
c.-69+2295T>G (n.-69+2295T>G)
10g.49611495C>ACA376720633CHAT,SLC18A3c.755C>A (p.Ser252Ter)
c.-69+2296C>A (n.-69+2296C>A)
10g.49611495C>GCA376720635CHAT,SLC18A3c.755C>G (p.Ser252Trp)
c.-69+2296C>G (n.-69+2296C>G)
10g.49611495C>TCA376720637CHAT,SLC18A3c.755C>T (p.Ser252Leu)
c.-69+2296C>T (n.-69+2296C>T)
 gnomAD v4 COSMIC
10g.49611496G>ACA5496833CHAT,SLC18A3c.756G>A (p.Ser252=)
c.-69+2297G>A (n.-69+2297G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611496G>CCA469791884CHAT,SLC18A3c.756G>C (p.Ser252=)
c.-69+2297G>C (n.-69+2297G>C)
10g.49611496G=CA1908793953CHAT,SLC18A3c.756G= (p.Ser252=)
c.-69+2297G= (n.-69+2297G=)
10g.49611496G>TCA206621191CHAT,SLC18A3c.756G>T (p.Ser252=)
c.-69+2297G>T (n.-69+2297G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611497C>ACA376720641CHAT,SLC18A3c.757C>A (p.Leu253Ile)
c.-69+2298C>A (n.-69+2298C>A)
10g.49611497C>GCA376720643CHAT,SLC18A3c.757C>G (p.Leu253Val)
c.-69+2298C>G (n.-69+2298C>G)
10g.49611497C>TCA376720645CHAT,SLC18A3c.757C>T (p.Leu253Phe)
c.-69+2298C>T (n.-69+2298C>T)
10g.49611498T>ACA376720647CHAT,SLC18A3c.758T>A (p.Leu253His)
c.-69+2299T>A (n.-69+2299T>A)
10g.49611498T>CCA5496834CHAT,SLC18A3c.758T>C (p.Leu253Pro)
c.-69+2299T>C (n.-69+2299T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611498T>GCA376720650CHAT,SLC18A3c.758T>G (p.Leu253Arg)
c.-69+2299T>G (n.-69+2299T>G)
10g.49611498T=CA1908793956CHAT,SLC18A3c.758T= (p.Leu253=)
c.-69+2299T= (n.-69+2299T=)
10g.49611499C>ACA469791895CHAT,SLC18A3c.759C>A (p.Leu253=)
c.-69+2300C>A (n.-69+2300C>A)
10g.49611499C=CA1908793959CHAT,SLC18A3c.759C= (p.Leu253=)
c.-69+2300C= (n.-69+2300C=)
10g.49611499C>GCA469791896CHAT,SLC18A3c.759C>G (p.Leu253=)
c.-69+2300C>G (n.-69+2300C>G)
 gnomAD v4
10g.49611499C>TCA469791894CHAT,SLC18A3c.759C>T (p.Leu253=)
c.-69+2300C>T (n.-69+2300C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611500T>ACA376720652CHAT,SLC18A3c.760T>A (p.Phe254Ile)
c.-69+2301T>A (n.-69+2301T>A)
10g.49611500T>CCA376720654CHAT,SLC18A3c.760T>C (p.Phe254Leu)
c.-69+2301T>C (n.-69+2301T>C)
10g.49611500T>GCA376720656CHAT,SLC18A3c.760T>G (p.Phe254Val)
c.-69+2301T>G (n.-69+2301T>G)
10g.49611500_49611501insGCA2609116128CHAT,SLC18A3c.760_761insG (p.Phe254CysfsTer2)
c.-69+2301_-69+2302insG (n.-69+2301_-69+2302insG)
 gnomAD v4
10g.49611501T>ACA376720659CHAT,SLC18A3c.761T>A (p.Phe254Tyr)
c.-69+2302T>A (n.-69+2302T>A)
10g.49611501T>CCA376720661CHAT,SLC18A3c.761T>C (p.Phe254Ser)
c.-69+2302T>C (n.-69+2302T>C)
10g.49611501T>GCA376720662CHAT,SLC18A3c.761T>G (p.Phe254Cys)
c.-69+2302T>G (n.-69+2302T>G)
10g.49611502T>ACA376720666CHAT,SLC18A3c.762T>A (p.Phe254Leu)
c.-69+2303T>A (n.-69+2303T>A)
10g.49611502T>CCA469791905CHAT,SLC18A3c.762T>C (p.Phe254=)
c.-69+2303T>C (n.-69+2303T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611502T>GCA376720667CHAT,SLC18A3c.762T>G (p.Phe254Leu)
c.-69+2303T>G (n.-69+2303T>G)
10g.49611502T=CA1908793963CHAT,SLC18A3c.762T= (p.Phe254=)
c.-69+2303T= (n.-69+2303T=)
10g.49611503G>ACA376720670CHAT,SLC18A3c.763G>A (p.Asp255Asn)
c.-69+2304G>A (n.-69+2304G>A)
10g.49611503G>CCA376720674CHAT,SLC18A3c.763G>C (p.Asp255His)
c.-69+2304G>C (n.-69+2304G>C)
10g.49611503G>TCA376720672CHAT,SLC18A3c.763G>T (p.Asp255Tyr)
c.-69+2304G>T (n.-69+2304G>T)
 gnomAD v4
10g.49611504A=CA1908793969CHAT,SLC18A3c.764A= (p.Asp255=)
c.-69+2305A= (n.-69+2305A=)
10g.49611504A>CCA376720676CHAT,SLC18A3c.764A>C (p.Asp255Ala)
c.-69+2305A>C (n.-69+2305A>C)
10g.49611504A>GCA376720678CHAT,SLC18A3c.764A>G (p.Asp255Gly)
c.-69+2305A>G (n.-69+2305A>G)
 dbSNP
10g.49611504A>TCA376720679CHAT,SLC18A3c.764A>T (p.Asp255Val)
c.-69+2305A>T (n.-69+2305A>T)
10g.49611505C>ACA376720681CHAT,SLC18A3c.765C>A (p.Asp255Glu)
c.-69+2306C>A (n.-69+2306C>A)
10g.49611505C=CA1908793974CHAT,SLC18A3c.765C= (p.Asp255=)
c.-69+2306C= (n.-69+2306C=)
10g.49611505C>GCA376720683CHAT,SLC18A3c.765C>G (p.Asp255Glu)
c.-69+2306C>G (n.-69+2306C>G)
10g.49611505C>TCA469791911CHAT,SLC18A3c.765C>T (p.Asp255=)
c.-69+2306C>T (n.-69+2306C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611506G>ACA376720689CHAT,SLC18A3c.766G>A (p.Ala256Thr)
c.-69+2307G>A (n.-69+2307G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611506G>CCA376720687CHAT,SLC18A3c.766G>C (p.Ala256Pro)
c.-69+2307G>C (n.-69+2307G>C)
10g.49611506G=CA1908793977CHAT,SLC18A3c.766G= (p.Ala256=)
c.-69+2307G= (n.-69+2307G=)
10g.49611506G>TCA376720685CHAT,SLC18A3c.766G>T (p.Ala256Ser)
c.-69+2307G>T (n.-69+2307G>T)
 gnomAD v4
10g.49611507C>ACA376720691CHAT,SLC18A3c.767C>A (p.Ala256Glu)
c.-69+2308C>A (n.-69+2308C>A)
10g.49611507C=CA1908793982CHAT,SLC18A3c.767C= (p.Ala256=)
c.-69+2308C= (n.-69+2308C=)
10g.49611507C>GCA376720694CHAT,SLC18A3c.767C>G (p.Ala256Gly)
c.-69+2308C>G (n.-69+2308C>G)
10g.49611507C>TCA206621195CHAT,SLC18A3c.767C>T (p.Ala256Val)
c.-69+2308C>T (n.-69+2308C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611508G>ACA5496835CHAT,SLC18A3c.768G>A (p.Ala256=)
c.-69+2309G>A (n.-69+2309G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611508G>CCA469791928CHAT,SLC18A3c.768G>C (p.Ala256=)
c.-69+2309G>C (n.-69+2309G>C)
10g.49611508G=CA1908793985CHAT,SLC18A3c.768G= (p.Ala256=)
c.-69+2309G= (n.-69+2309G=)
10g.49611508G>TCA469791929CHAT,SLC18A3c.768G>T (p.Ala256=)
c.-69+2309G>T (n.-69+2309G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611509C>ACA376720698CHAT,SLC18A3c.769C>A (p.Leu257Met)
c.-69+2310C>A (n.-69+2310C>A)
 dbSNP gnomAD v2
10g.49611509C=CA1908793989CHAT,SLC18A3c.769C= (p.Leu257=)
c.-69+2310C= (n.-69+2310C=)
10g.49611509C>GCA376720700CHAT,SLC18A3c.769C>G (p.Leu257Val)
c.-69+2310C>G (n.-69+2310C>G)
10g.49611509C>TCA469791934CHAT,SLC18A3c.769C>T (p.Leu257=)
c.-69+2310C>T (n.-69+2310C>T)
 ClinVar
10g.49611510T>ACA376720703CHAT,SLC18A3c.770T>A (p.Leu257Gln)
c.-69+2311T>A (n.-69+2311T>A)
10g.49611510T>CCA376720707CHAT,SLC18A3c.770T>C (p.Leu257Pro)
c.-69+2311T>C (n.-69+2311T>C)
 COSMIC
10g.49611510T>GCA376720705CHAT,SLC18A3c.770T>G (p.Leu257Arg)
c.-69+2311T>G (n.-69+2311T>G)
10g.49611511G>ACA469791941CHAT,SLC18A3c.771G>A (p.Leu257=)
c.-69+2312G>A (n.-69+2312G>A)
10g.49611511G>CCA469791939CHAT,SLC18A3c.771G>C (p.Leu257=)
c.-69+2312G>C (n.-69+2312G>C)
10g.49611511G>TCA469791940CHAT,SLC18A3c.771G>T (p.Leu257=)
c.-69+2312G>T (n.-69+2312G>T)
10g.49611512T>ACA376720709CHAT,SLC18A3c.772T>A (p.Leu258Met)
c.-69+2313T>A (n.-69+2313T>A)
10g.49611512T>CCA5496836CHAT,SLC18A3c.772T>C (p.Leu258=)
c.-69+2313T>C (n.-69+2313T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611512T>GCA376720712CHAT,SLC18A3c.772T>G (p.Leu258Val)
c.-69+2313T>G (n.-69+2313T>G)
10g.49611512T=CA1908793992CHAT,SLC18A3c.772T= (p.Leu258=)
c.-69+2313T= (n.-69+2313T=)
10g.49611513T>ACA376720715CHAT,SLC18A3c.773T>A (p.Leu258Ter)
c.-69+2314T>A (n.-69+2314T>A)
10g.49611513T>CCA376720717CHAT,SLC18A3c.773T>C (p.Leu258Ser)
c.-69+2314T>C (n.-69+2314T>C)
10g.49611513T>GCA376720719CHAT,SLC18A3c.773T>G (p.Leu258Trp)
c.-69+2314T>G (n.-69+2314T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611513T=CA1908793996CHAT,SLC18A3c.773T= (p.Leu258=)
c.-69+2314T= (n.-69+2314T=)
10g.49611514G>ACA469791955CHAT,SLC18A3c.774G>A (p.Leu258=)
c.-69+2315G>A (n.-69+2315G>A)
 gnomAD v4
10g.49611514G>CCA206621201CHAT,SLC18A3c.774G>C (p.Leu258Phe)
c.-69+2315G>C (n.-69+2315G>C)
 dbSNP
10g.49611514G=CA1908794001CHAT,SLC18A3c.774G= (p.Leu258=)
c.-69+2315G= (n.-69+2315G=)
10g.49611514G>TCA376720722CHAT,SLC18A3c.774G>T (p.Leu258Phe)
c.-69+2315G>T (n.-69+2315G>T)
 gnomAD v4
10g.49611515C>ACA376720725CHAT,SLC18A3c.775C>A (p.Leu259Met)
c.-69+2316C>A (n.-69+2316C>A)
 gnomAD v4 COSMIC
10g.49611515C=CA1908794006CHAT,SLC18A3c.775C= (p.Leu259=)
c.-69+2316C= (n.-69+2316C=)
10g.49611515C>GCA376720727CHAT,SLC18A3c.775C>G (p.Leu259Val)
c.-69+2316C>G (n.-69+2316C>G)
10g.49611515C>TCA5496837CHAT,SLC18A3c.775C>T (p.Leu259=)
c.-69+2316C>T (n.-69+2316C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611516T>ACA376720733CHAT,SLC18A3c.776T>A (p.Leu259Gln)
c.-69+2317T>A (n.-69+2317T>A)
10g.49611516T>CCA376720735CHAT,SLC18A3c.776T>C (p.Leu259Pro)
c.-69+2317T>C (n.-69+2317T>C)
10g.49611516T>GCA376720732CHAT,SLC18A3c.776T>G (p.Leu259Arg)
c.-69+2317T>G (n.-69+2317T>G)
10g.49611517G>ACA469791971CHAT,SLC18A3c.777G>A (p.Leu259=)
c.-69+2318G>A (n.-69+2318G>A)
10g.49611517G>CCA469791968CHAT,SLC18A3c.777G>C (p.Leu259=)
c.-69+2318G>C (n.-69+2318G>C)
10g.49611517G>TCA469791969CHAT,SLC18A3c.777G>T (p.Leu259=)
c.-69+2318G>T (n.-69+2318G>T)
 gnomAD v4
10g.49611518C>ACA5496838CHAT,SLC18A3c.778C>A (p.Leu260Met)
c.-69+2319C>A (n.-69+2319C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611518C=CA1908794014CHAT,SLC18A3c.778C= (p.Leu260=)
c.-69+2319C= (n.-69+2319C=)
10g.49611518C>GCA376720738CHAT,SLC18A3c.778C>G (p.Leu260Val)
c.-69+2319C>G (n.-69+2319C>G)
10g.49611518C>TCA469791974CHAT,SLC18A3c.778C>T (p.Leu260=)
c.-69+2319C>T (n.-69+2319C>T)
 dbSNP gnomAD v2
10g.49611519T>ACA376720741CHAT,SLC18A3c.779T>A (p.Leu260Gln)
c.-69+2320T>A (n.-69+2320T>A)
 ClinVar dbSNP
10g.49611519T>CCA376720742CHAT,SLC18A3c.779T>C (p.Leu260Pro)
c.-69+2320T>C (n.-69+2320T>C)
 COSMIC
10g.49611519T>GCA376720744CHAT,SLC18A3c.779T>G (p.Leu260Arg)
c.-69+2320T>G (n.-69+2320T>G)
10g.49611519T=CA1908794019CHAT,SLC18A3c.779T= (p.Leu260=)
c.-69+2320T= (n.-69+2320T=)
10g.49611520G>ACA469791978CHAT,SLC18A3c.780G>A (p.Leu260=)
c.-69+2321G>A (n.-69+2321G>A)
10g.49611520G>CCA469791979CHAT,SLC18A3c.780G>C (p.Leu260=)
c.-69+2321G>C (n.-69+2321G>C)
10g.49611520G>TCA469791980CHAT,SLC18A3c.780G>T (p.Leu260=)
c.-69+2321G>T (n.-69+2321G>T)
10g.49611521G>ACA376720747CHAT,SLC18A3c.781G>A (p.Ala261Thr)
c.-69+2322G>A (n.-69+2322G>A)
 ClinVar dbSNP gnomAD v4
10g.49611521G>CCA5496839CHAT,SLC18A3c.781G>C (p.Ala261Pro)
c.-69+2322G>C (n.-69+2322G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611521G=CA1908794022CHAT,SLC18A3c.781G= (p.Ala261=)
c.-69+2322G= (n.-69+2322G=)
10g.49611521G>TCA376720750CHAT,SLC18A3c.781G>T (p.Ala261Ser)
c.-69+2322G>T (n.-69+2322G>T)
 gnomAD v4
10g.49611522C>ACA376720757CHAT,SLC18A3c.782C>A (p.Ala261Glu)
c.-69+2323C>A (n.-69+2323C>A)
10g.49611522C=CA1908794027CHAT,SLC18A3c.782C= (p.Ala261=)
c.-69+2323C= (n.-69+2323C=)
10g.49611522C>GCA376720754CHAT,SLC18A3c.782C>G (p.Ala261Gly)
c.-69+2323C>G (n.-69+2323C>G)
10g.49611522C>TCA5496840CHAT,SLC18A3c.782C>T (p.Ala261Val)
c.-69+2323C>T (n.-69+2323C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611523A>CCA469791996CHAT,SLC18A3c.783A>C (p.Ala261=)
c.-69+2324A>C (n.-69+2324A>C)
10g.49611523A>GCA469791992CHAT,SLC18A3c.783A>G (p.Ala261=)
c.-69+2324A>G (n.-69+2324A>G)
 gnomAD v4
10g.49611523A>TCA469791999CHAT,SLC18A3c.783A>T (p.Ala261=)
c.-69+2324A>T (n.-69+2324A>T)
10g.49611524G>ACA376720759CHAT,SLC18A3c.784G>A (p.Val262Met)
c.-69+2325G>A (n.-69+2325G>A)
10g.49611524G>CCA376720761CHAT,SLC18A3c.784G>C (p.Val262Leu)
c.-69+2325G>C (n.-69+2325G>C)
10g.49611524G>TCA376720763CHAT,SLC18A3c.784G>T (p.Val262Leu)
c.-69+2325G>T (n.-69+2325G>T)
10g.49611525T>ACA376720766CHAT,SLC18A3c.785T>A (p.Val262Glu)
c.-69+2326T>A (n.-69+2326T>A)
10g.49611525T>CCA376720767CHAT,SLC18A3c.785T>C (p.Val262Ala)
c.-69+2326T>C (n.-69+2326T>C)
 gnomAD v4
10g.49611525T>GCA376720770CHAT,SLC18A3c.785T>G (p.Val262Gly)
c.-69+2326T>G (n.-69+2326T>G)
10g.49611526G>ACA469792015CHAT,SLC18A3c.786G>A (p.Val262=)
c.-69+2327G>A (n.-69+2327G>A)
 dbSNP
10g.49611526G>CCA469792013CHAT,SLC18A3c.786G>C (p.Val262=)
c.-69+2327G>C (n.-69+2327G>C)
10g.49611526G=CA1908794035CHAT,SLC18A3c.786G= (p.Val262=)
c.-69+2327G= (n.-69+2327G=)
10g.49611526G>TCA469792014CHAT,SLC18A3c.786G>T (p.Val262=)
c.-69+2327G>T (n.-69+2327G>T)
 gnomAD v4
10g.49611527G>ACA376720773CHAT,SLC18A3c.787G>A (p.Ala263Thr)
c.-69+2328G>A (n.-69+2328G>A)
 gnomAD v4 COSMIC
10g.49611527G>CCA376720777CHAT,SLC18A3c.787G>C (p.Ala263Pro)
c.-69+2328G>C (n.-69+2328G>C)
10g.49611527G=CA1908794041CHAT,SLC18A3c.787G= (p.Ala263=)
c.-69+2328G= (n.-69+2328G=)
10g.49611527G>TCA376720775CHAT,SLC18A3c.787G>T (p.Ala263Ser)
c.-69+2328G>T (n.-69+2328G>T)
 dbSNP gnomAD v4
10g.49611528C>ACA376720780CHAT,SLC18A3c.788C>A (p.Ala263Asp)
c.-69+2329C>A (n.-69+2329C>A)
10g.49611528C=CA1908794046CHAT,SLC18A3c.788C= (p.Ala263=)
c.-69+2329C= (n.-69+2329C=)
10g.49611528C>GCA376720781CHAT,SLC18A3c.788C>G (p.Ala263Gly)
c.-69+2329C>G (n.-69+2329C>G)
10g.49611528C>TCA206621214CHAT,SLC18A3c.788C>T (p.Ala263Val)
c.-69+2329C>T (n.-69+2329C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611529C>ACA469792028CHAT,SLC18A3c.789C>A (p.Ala263=)
c.-69+2330C>A (n.-69+2330C>A)
10g.49611529C=CA1908794052CHAT,SLC18A3c.789C= (p.Ala263=)
c.-69+2330C= (n.-69+2330C=)
10g.49611529C>GCA469792025CHAT,SLC18A3c.789C>G (p.Ala263=)
c.-69+2330C>G (n.-69+2330C>G)
10g.49611529C>TCA469792027CHAT,SLC18A3c.789C>T (p.Ala263=)
c.-69+2330C>T (n.-69+2330C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611530A>CCA376720785CHAT,SLC18A3c.790A>C (p.Lys264Gln)
c.-69+2331A>C (n.-69+2331A>C)
 gnomAD v4
10g.49611530A>GCA376720786CHAT,SLC18A3c.790A>G (p.Lys264Glu)
c.-69+2331A>G (n.-69+2331A>G)
10g.49611530A>TCA376720788CHAT,SLC18A3c.790A>T (p.Lys264Ter)
c.-69+2331A>T (n.-69+2331A>T)
10g.49611531A>CCA376720791CHAT,SLC18A3c.791A>C (p.Lys264Thr)
c.-69+2332A>C (n.-69+2332A>C)
10g.49611531A>GCA376720793CHAT,SLC18A3c.791A>G (p.Lys264Arg)
c.-69+2332A>G (n.-69+2332A>G)
10g.49611531A>TCA376720796CHAT,SLC18A3c.791A>T (p.Lys264Ile)
c.-69+2332A>T (n.-69+2332A>T)
10g.49611532A=CA1908794059CHAT,SLC18A3c.792A= (p.Lys264=)
c.-69+2333A= (n.-69+2333A=)
10g.49611532A>CCA5496841CHAT,SLC18A3c.792A>C (p.Lys264Asn)
c.-69+2333A>C (n.-69+2333A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611532A>GCA469792037CHAT,SLC18A3c.792A>G (p.Lys264=)
c.-69+2333A>G (n.-69+2333A>G)
 dbSNP
10g.49611532A>TCA376720799CHAT,SLC18A3c.792A>T (p.Lys264Asn)
c.-69+2333A>T (n.-69+2333A>T)
10g.49611533C>ACA376720802CHAT,SLC18A3c.793C>A (p.Pro265Thr)
c.-69+2334C>A (n.-69+2334C>A)
10g.49611533C=CA1908794065CHAT,SLC18A3c.793C= (p.Pro265=)
c.-69+2334C= (n.-69+2334C=)
10g.49611533C>GCA376720805CHAT,SLC18A3c.793C>G (p.Pro265Ala)
c.-69+2334C>G (n.-69+2334C>G)
10g.49611533C>TCA5496842CHAT,SLC18A3c.793C>T (p.Pro265Ser)
c.-69+2334C>T (n.-69+2334C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611534C>ACA376720808CHAT,SLC18A3c.794C>A (p.Pro265His)
c.-69+2335C>A (n.-69+2335C>A)
 ClinVar gnomAD v4
10g.49611534C=CA1908794070CHAT,SLC18A3c.794C= (p.Pro265=)
c.-69+2335C= (n.-69+2335C=)
10g.49611534C>GCA376720809CHAT,SLC18A3c.794C>G (p.Pro265Arg)
c.-69+2335C>G (n.-69+2335C>G)
10g.49611534C>TCA376720811CHAT,SLC18A3c.794C>T (p.Pro265Leu)
c.-69+2335C>T (n.-69+2335C>T)
 dbSNP gnomAD v2
10g.49611535C>ACA469792049CHAT,SLC18A3c.795C>A (p.Pro265=)
c.-69+2336C>A (n.-69+2336C>A)
10g.49611535C>GCA469792052CHAT,SLC18A3c.795C>G (p.Pro265=)
c.-69+2336C>G (n.-69+2336C>G)
10g.49611535C>TCA469792053CHAT,SLC18A3c.795C>T (p.Pro265=)
c.-69+2336C>T (n.-69+2336C>T)
 COSMIC
10g.49611536T>ACA376720812CHAT,SLC18A3c.796T>A (p.Phe266Ile)
c.-69+2337T>A (n.-69+2337T>A)
 dbSNP gnomAD v4
10g.49611536T>CCA376720813CHAT,SLC18A3c.796T>C (p.Phe266Leu)
c.-69+2337T>C (n.-69+2337T>C)
10g.49611536T>GCA376720815CHAT,SLC18A3c.796T>G (p.Phe266Val)
c.-69+2337T>G (n.-69+2337T>G)
 gnomAD v4
10g.49611536T=CA1908794075CHAT,SLC18A3c.796T= (p.Phe266=)
c.-69+2337T= (n.-69+2337T=)
10g.49611537T>ACA376720817CHAT,SLC18A3c.797T>A (p.Phe266Tyr)
c.-69+2338T>A (n.-69+2338T>A)
10g.49611537T>CCA376720818CHAT,SLC18A3c.797T>C (p.Phe266Ser)
c.-69+2338T>C (n.-69+2338T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611537T>GCA376720821CHAT,SLC18A3c.797T>G (p.Phe266Cys)
c.-69+2338T>G (n.-69+2338T>G)
10g.49611537T=CA1908794079CHAT,SLC18A3c.797T= (p.Phe266=)
c.-69+2338T= (n.-69+2338T=)
10g.49611538C>ACA376720823CHAT,SLC18A3c.798C>A (p.Phe266Leu)
c.-69+2339C>A (n.-69+2339C>A)
 gnomAD v4
10g.49611538C=CA1908794083CHAT,SLC18A3c.798C= (p.Phe266=)
c.-69+2339C= (n.-69+2339C=)
10g.49611538C>GCA376720825CHAT,SLC18A3c.798C>G (p.Phe266Leu)
c.-69+2339C>G (n.-69+2339C>G)
10g.49611538C>TCA469792059CHAT,SLC18A3c.798C>T (p.Phe266=)
c.-69+2339C>T (n.-69+2339C>T)
 dbSNP
10g.49611539T>ACA376720831CHAT,SLC18A3c.799T>A (p.Ser267Thr)
c.-69+2340T>A (n.-69+2340T>A)
10g.49611539T>CCA376720830CHAT,SLC18A3c.799T>C (p.Ser267Pro)
c.-69+2340T>C (n.-69+2340T>C)
10g.49611539T>GCA376720827CHAT,SLC18A3c.799T>G (p.Ser267Ala)
c.-69+2340T>G (n.-69+2340T>G)
 gnomAD v4
10g.49611540C>ACA376720834CHAT,SLC18A3c.800C>A (p.Ser267Ter)
c.-69+2341C>A (n.-69+2341C>A)
 gnomAD v4
10g.49611540C>GCA376720836CHAT,SLC18A3c.800C>G (p.Ser267Trp)
c.-69+2341C>G (n.-69+2341C>G)
10g.49611540C>TCA376720838CHAT,SLC18A3c.800C>T (p.Ser267Leu)
c.-69+2341C>T (n.-69+2341C>T)
10g.49611541G>ACA469792066CHAT,SLC18A3c.801G>A (p.Ser267=)
c.-69+2342G>A (n.-69+2342G>A)
10g.49611541G>CCA469792068CHAT,SLC18A3c.801G>C (p.Ser267=)
c.-69+2342G>C (n.-69+2342G>C)
 dbSNP gnomAD v4
10g.49611541G=CA1908794087CHAT,SLC18A3c.801G= (p.Ser267=)
c.-69+2342G= (n.-69+2342G=)
10g.49611541G>TCA469792069CHAT,SLC18A3c.801G>T (p.Ser267=)
c.-69+2342G>T (n.-69+2342G>T)
10g.49611542G>ACA376720841CHAT,SLC18A3c.802G>A (p.Ala268Thr)
c.-69+2343G>A (n.-69+2343G>A)
 dbSNP gnomAD v4
10g.49611542G>CCA376720843CHAT,SLC18A3c.802G>C (p.Ala268Pro)
c.-69+2343G>C (n.-69+2343G>C)
10g.49611542G=CA1908794091CHAT,SLC18A3c.802G= (p.Ala268=)
c.-69+2343G= (n.-69+2343G=)
10g.49611542G>TCA376720845CHAT,SLC18A3c.802G>T (p.Ala268Ser)
c.-69+2343G>T (n.-69+2343G>T)
 gnomAD v4
10g.49611543C>ACA5496843CHAT,SLC18A3c.803C>A (p.Ala268Glu)
c.-69+2344C>A (n.-69+2344C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611543C=CA1908794096CHAT,SLC18A3c.803C= (p.Ala268=)
c.-69+2344C= (n.-69+2344C=)
10g.49611543C>GCA376720848CHAT,SLC18A3c.803C>G (p.Ala268Gly)
c.-69+2344C>G (n.-69+2344C>G)
10g.49611543C>TCA376720850CHAT,SLC18A3c.803C>T (p.Ala268Val)
c.-69+2344C>T (n.-69+2344C>T)
 ClinVar gnomAD v4 COSMIC
10g.49611544G>ACA469791105CHAT,SLC18A3c.804G>A (p.Ala268=)
c.-69+2345G>A (n.-69+2345G>A)
 gnomAD v4
10g.49611544G>CCA469791106CHAT,SLC18A3c.804G>C (p.Ala268=)
c.-69+2345G>C (n.-69+2345G>C)
10g.49611544G=CA1908794101CHAT,SLC18A3c.804G= (p.Ala268=)
c.-69+2345G= (n.-69+2345G=)
10g.49611544G>TCA469791107CHAT,SLC18A3c.804G>T (p.Ala268=)
c.-69+2345G>T (n.-69+2345G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611545G>ACA376720852CHAT,SLC18A3c.805G>A (p.Ala269Thr)
c.-69+2346G>A (n.-69+2346G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611545G>CCA376720853CHAT,SLC18A3c.805G>C (p.Ala269Pro)
c.-69+2346G>C (n.-69+2346G>C)
10g.49611545G=CA1908794105CHAT,SLC18A3c.805G= (p.Ala269=)
c.-69+2346G= (n.-69+2346G=)
10g.49611545G>TCA376720855CHAT,SLC18A3c.805G>T (p.Ala269Ser)
c.-69+2346G>T (n.-69+2346G>T)
 dbSNP gnomAD v4
10g.49611547_49611549delCA2574545131CHAT,SLC18A3c.807_809del (p.Ala270del)
c.-69+2348_-69+2350del (n.-69+2348_-69+2350del)
10g.49611546C>ACA376720860CHAT,SLC18A3c.806C>A (p.Ala269Asp)
c.-69+2347C>A (n.-69+2347C>A)
10g.49611546C>GCA376720862CHAT,SLC18A3c.806C>G (p.Ala269Gly)
c.-69+2347C>G (n.-69+2347C>G)
 dbSNP
10g.49611546C>TCA376720857CHAT,SLC18A3c.806C>T (p.Ala269Val)
c.-69+2347C>T (n.-69+2347C>T)
 gnomAD v4
10g.49611547T>ACA469791111CHAT,SLC18A3c.807T>A (p.Ala269=)
c.-69+2348T>A (n.-69+2348T>A)
10g.49611547T>CCA469791112CHAT,SLC18A3c.807T>C (p.Ala269=)
c.-69+2348T>C (n.-69+2348T>C)
10g.49611547T>GCA469791113CHAT,SLC18A3c.807T>G (p.Ala269=)
c.-69+2348T>G (n.-69+2348T>G)
10g.49611548G>ACA376720869CHAT,SLC18A3c.808G>A (p.Ala270Thr)
c.-69+2349G>A (n.-69+2349G>A)
 gnomAD v4
10g.49611548G>CCA376720865CHAT,SLC18A3c.808G>C (p.Ala270Pro)
c.-69+2349G>C (n.-69+2349G>C)
10g.49611548G>TCA376720867CHAT,SLC18A3c.808G>T (p.Ala270Ser)
c.-69+2349G>T (n.-69+2349G>T)
 gnomAD v4
10g.49611549C>ACA376720871CHAT,SLC18A3c.809C>A (p.Ala270Glu)
c.-69+2350C>A (n.-69+2350C>A)
10g.49611549C>GCA376720873CHAT,SLC18A3c.809C>G (p.Ala270Gly)
c.-69+2350C>G (n.-69+2350C>G)
10g.49611549C>TCA376720876CHAT,SLC18A3c.809C>T (p.Ala270Val)
c.-69+2350C>T (n.-69+2350C>T)
 gnomAD v4
10g.49611550A>CCA469791118CHAT,SLC18A3c.810A>C (p.Ala270=)
c.-69+2351A>C (n.-69+2351A>C)
10g.49611550A>GCA469791120CHAT,SLC18A3c.810A>G (p.Ala270=)
c.-69+2351A>G (n.-69+2351A>G)
 gnomAD v4
10g.49611550A>TCA469791116CHAT,SLC18A3c.810A>T (p.Ala270=)
c.-69+2351A>T (n.-69+2351A>T)
10g.49611551C>ACA469791123CHAT,SLC18A3c.811C>A (p.Arg271=)
c.-69+2352C>A (n.-69+2352C>A)
 ClinVar
10g.49611551C=CA1908794111CHAT,SLC18A3c.811C= (p.Arg271=)
c.-69+2352C= (n.-69+2352C=)
10g.49611551C>GCA376720878CHAT,SLC18A3c.811C>G (p.Arg271Gly)
c.-69+2352C>G (n.-69+2352C>G)
10g.49611551C>TCA206621223CHAT,SLC18A3c.811C>T (p.Arg271Trp)
c.-69+2352C>T (n.-69+2352C>T)
 dbSNP gnomAD v4
10g.49611551_49611552delinsCGCA1908794112CHAT,SLC18A3c.811_812delinsCG (p.Arg271=)
c.-69+2352_-69+2353delinsCG (n.-69+2352_-69+2353delinsCG)
10g.49611552G>ACA376720881CHAT,SLC18A3c.812G>A (p.Arg271Gln)
c.-69+2353G>A (n.-69+2353G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611552G>CCA376720884CHAT,SLC18A3c.812G>C (p.Arg271Pro)
c.-69+2353G>C (n.-69+2353G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611552G=CA1908794119CHAT,SLC18A3c.812G= (p.Arg271=)
c.-69+2353G= (n.-69+2353G=)
10g.49611552G>TCA376720886CHAT,SLC18A3c.812G>T (p.Arg271Leu)
c.-69+2353G>T (n.-69+2353G>T)
 gnomAD v4
10g.49611554delCA5496844CHAT,SLC18A3c.814del (p.Ala272LeufsTer16)
c.-69+2355del (n.-69+2355del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611553G>ACA5496845CHAT,SLC18A3c.813G>A (p.Arg271=)
c.-69+2354G>A (n.-69+2354G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611553G>CCA469791129CHAT,SLC18A3c.813G>C (p.Arg271=)
c.-69+2354G>C (n.-69+2354G>C)
10g.49611553G=CA1908794124CHAT,SLC18A3c.813G= (p.Arg271=)
c.-69+2354G= (n.-69+2354G=)
10g.49611553G>TCA469791128CHAT,SLC18A3c.813G>T (p.Arg271=)
c.-69+2354G>T (n.-69+2354G>T)
 gnomAD v4
10g.49611554G>ACA376720896CHAT,SLC18A3c.814G>A (p.Ala272Thr)
c.-69+2355G>A (n.-69+2355G>A)
 gnomAD v4
10g.49611554G>CCA376720892CHAT,SLC18A3c.814G>C (p.Ala272Pro)
c.-69+2355G>C (n.-69+2355G>C)
10g.49611554G=CA1908794125CHAT,SLC18A3c.814G= (p.Ala272=)
c.-69+2355G= (n.-69+2355G=)
10g.49611554G>TCA376720894CHAT,SLC18A3c.814G>T (p.Ala272Ser)
c.-69+2355G>T (n.-69+2355G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611555C>ACA376720899CHAT,SLC18A3c.815C>A (p.Ala272Asp)
c.-69+2356C>A (n.-69+2356C>A)
10g.49611555C>GCA376720901CHAT,SLC18A3c.815C>G (p.Ala272Gly)
c.-69+2356C>G (n.-69+2356C>G)
10g.49611555C>TCA376720903CHAT,SLC18A3c.815C>T (p.Ala272Val)
c.-69+2356C>T (n.-69+2356C>T)
10g.49611556T>ACA469791134CHAT,SLC18A3c.816T>A (p.Ala272=)
c.-69+2357T>A (n.-69+2357T>A)
 ClinVar dbSNP
10g.49611556T>CCA469791137CHAT,SLC18A3c.816T>C (p.Ala272=)
c.-69+2357T>C (n.-69+2357T>C)
10g.49611556T>GCA469791136CHAT,SLC18A3c.816T>G (p.Ala272=)
c.-69+2357T>G (n.-69+2357T>G)
10g.49611557C>ACA5496846CHAT,SLC18A3c.817C>A (p.Arg273=)
c.-69+2358C>A (n.-69+2358C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611557C=CA1908794129CHAT,SLC18A3c.817C= (p.Arg273=)
c.-69+2358C= (n.-69+2358C=)
10g.49611557C>GCA376720906CHAT,SLC18A3c.817C>G (p.Arg273Gly)
c.-69+2358C>G (n.-69+2358C>G)
10g.49611557C>TCA376720908CHAT,SLC18A3c.817C>T (p.Arg273Trp)
c.-69+2358C>T (n.-69+2358C>T)
 dbSNP
10g.49611558G>ACA376720911CHAT,SLC18A3c.818G>A (p.Arg273Gln)
c.-69+2359G>A (n.-69+2359G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611558G>CCA376720913CHAT,SLC18A3c.818G>C (p.Arg273Pro)
c.-69+2359G>C (n.-69+2359G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611558G=CA1908794139CHAT,SLC18A3c.818G= (p.Arg273=)
c.-69+2359G= (n.-69+2359G=)
10g.49611558G>TCA376720915CHAT,SLC18A3c.818G>T (p.Arg273Leu)
c.-69+2359G>T (n.-69+2359G>T)
 gnomAD v4
10g.49611559G>ACA469791142CHAT,SLC18A3c.819G>A (p.Arg273=)
c.-69+2360G>A (n.-69+2360G>A)
10g.49611559G>CCA469791143CHAT,SLC18A3c.819G>C (p.Arg273=)
c.-69+2360G>C (n.-69+2360G>C)
 ClinVar
10g.49611559G>TCA469791141CHAT,SLC18A3c.819G>T (p.Arg273=)
c.-69+2360G>T (n.-69+2360G>T)
 gnomAD v4
10g.49611560G>ACA376720918CHAT,SLC18A3c.820G>A (p.Ala274Thr)
c.-69+2361G>A (n.-69+2361G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.49611560G>CCA376720919CHAT,SLC18A3c.820G>C (p.Ala274Pro)
c.-69+2361G>C (n.-69+2361G>C)
10g.49611560G=CA1908794146CHAT,SLC18A3c.820G= (p.Ala274=)
c.-69+2361G= (n.-69+2361G=)
10g.49611560G>TCA376720922CHAT,SLC18A3c.820G>T (p.Ala274Ser)
c.-69+2361G>T (n.-69+2361G>T)
 gnomAD v4
10g.49611561C>ACA376720926CHAT,SLC18A3c.821C>A (p.Ala274Asp)
c.-69+2362C>A (n.-69+2362C>A)
 dbSNP gnomAD v4
10g.49611561C>GCA376720929CHAT,SLC18A3c.821C>G (p.Ala274Gly)
c.-69+2362C>G (n.-69+2362C>G)
10g.49611561C>TCA376720924CHAT,SLC18A3c.821C>T (p.Ala274Val)
c.-69+2362C>T (n.-69+2362C>T)
 gnomAD v4
10g.49611562C>ACA469791150CHAT,SLC18A3c.822C>A (p.Ala274=)
c.-69+2363C>A (n.-69+2363C>A)
 gnomAD v4
10g.49611562C=CA1908794151CHAT,SLC18A3c.822C= (p.Ala274=)
c.-69+2363C= (n.-69+2363C=)
10g.49611562C>GCA469791152CHAT,SLC18A3c.822C>G (p.Ala274=)
c.-69+2363C>G (n.-69+2363C>G)
10g.49611562C>TCA469791148CHAT,SLC18A3c.822C>T (p.Ala274=)
c.-69+2363C>T (n.-69+2363C>T)
 dbSNP gnomAD v2
10g.49611563A=CA1908794157CHAT,SLC18A3c.823A= (p.Asn275=)
c.-69+2364A= (n.-69+2364A=)
10g.49611563A>CCA376720932CHAT,SLC18A3c.823A>C (p.Asn275His)
c.-69+2364A>C (n.-69+2364A>C)
10g.49611563A>GCA5496847CHAT,SLC18A3c.823A>G (p.Asn275Asp)
c.-69+2364A>G (n.-69+2364A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611563A>TCA376720934CHAT,SLC18A3c.823A>T (p.Asn275Tyr)
c.-69+2364A>T (n.-69+2364A>T)
10g.49611564A=CA1908794162CHAT,SLC18A3c.824A= (p.Asn275=)
c.-69+2365A= (n.-69+2365A=)
10g.49611564A>CCA376720937CHAT,SLC18A3c.824A>C (p.Asn275Thr)
c.-69+2365A>C (n.-69+2365A>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611564A>GCA376720940CHAT,SLC18A3c.824A>G (p.Asn275Ser)
c.-69+2365A>G (n.-69+2365A>G)
 gnomAD v4
10g.49611564A>TCA376720942CHAT,SLC18A3c.824A>T (p.Asn275Ile)
c.-69+2365A>T (n.-69+2365A>T)
10g.49611565C>ACA376720947CHAT,SLC18A3c.825C>A (p.Asn275Lys)
c.-69+2366C>A (n.-69+2366C>A)
10g.49611565C=CA1908794173CHAT,SLC18A3c.825C= (p.Asn275=)
c.-69+2366C= (n.-69+2366C=)
10g.49611565C>GCA376720944CHAT,SLC18A3c.825C>G (p.Asn275Lys)
c.-69+2366C>G (n.-69+2366C>G)
10g.49611565C>TCA5496848CHAT,SLC18A3c.825C>T (p.Asn275=)
c.-69+2366C>T (n.-69+2366C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611566C>ACA376720951CHAT,SLC18A3c.826C>A (p.Leu276Met)
c.-69+2367C>A (n.-69+2367C>A)
10g.49611566C>GCA376720952CHAT,SLC18A3c.826C>G (p.Leu276Val)
c.-69+2367C>G (n.-69+2367C>G)
10g.49611566C>TCA469791156CHAT,SLC18A3c.826C>T (p.Leu276=)
c.-69+2367C>T (n.-69+2367C>T)
 COSMIC
10g.49611567T>ACA376720955CHAT,SLC18A3c.827T>A (p.Leu276Gln)
c.-69+2368T>A (n.-69+2368T>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611567T>CCA376720957CHAT,SLC18A3c.827T>C (p.Leu276Pro)
c.-69+2368T>C (n.-69+2368T>C)
10g.49611567T>GCA376720958CHAT,SLC18A3c.827T>G (p.Leu276Arg)
c.-69+2368T>G (n.-69+2368T>G)
10g.49611567T=CA1908794178CHAT,SLC18A3c.827T= (p.Leu276=)
c.-69+2368T= (n.-69+2368T=)
10g.49611568G>ACA469791161CHAT,SLC18A3c.828G>A (p.Leu276=)
c.-69+2369G>A (n.-69+2369G>A)
 gnomAD v4 COSMIC
10g.49611568G>CCA469791162CHAT,SLC18A3c.828G>C (p.Leu276=)
c.-69+2369G>C (n.-69+2369G>C)
10g.49611568G>TCA469791163CHAT,SLC18A3c.828G>T (p.Leu276=)
c.-69+2369G>T (n.-69+2369G>T)
 gnomAD v4
10g.49611569C>ACA376720962CHAT,SLC18A3c.829C>A (p.Pro277Thr)
c.-69+2370C>A (n.-69+2370C>A)
 gnomAD v4
10g.49611569C=CA1908794183CHAT,SLC18A3c.829C= (p.Pro277=)
c.-69+2370C= (n.-69+2370C=)
10g.49611569C>GCA376720966CHAT,SLC18A3c.829C>G (p.Pro277Ala)
c.-69+2370C>G (n.-69+2370C>G)
 gnomAD v4
10g.49611569C>TCA376720964CHAT,SLC18A3c.829C>T (p.Pro277Ser)
c.-69+2370C>T (n.-69+2370C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611570C>ACA376720968CHAT,SLC18A3c.830C>A (p.Pro277Gln)
c.-69+2371C>A (n.-69+2371C>A)
10g.49611570C>GCA376720971CHAT,SLC18A3c.830C>G (p.Pro277Arg)
c.-69+2371C>G (n.-69+2371C>G)
10g.49611570C>TCA376720972CHAT,SLC18A3c.830C>T (p.Pro277Leu)
c.-69+2371C>T (n.-69+2371C>T)
10g.49611571A=CA1908794185CHAT,SLC18A3c.831A= (p.Pro277=)
c.-69+2372A= (n.-69+2372A=)
10g.49611571A>CCA469791167CHAT,SLC18A3c.831A>C (p.Pro277=)
c.-69+2372A>C (n.-69+2372A>C)
10g.49611571A>GCA469791169CHAT,SLC18A3c.831A>G (p.Pro277=)
c.-69+2372A>G (n.-69+2372A>G)
 dbSNP
10g.49611571A>TCA469791165CHAT,SLC18A3c.831A>T (p.Pro277=)
c.-69+2372A>T (n.-69+2372A>T)
10g.49611572G>ACA376720975CHAT,SLC18A3c.832G>A (p.Val278Met)
c.-69+2373G>A (n.-69+2373G>A)
 gnomAD v4
10g.49611572G>CCA376720977CHAT,SLC18A3c.832G>C (p.Val278Leu)
c.-69+2373G>C (n.-69+2373G>C)
10g.49611572G>TCA376720979CHAT,SLC18A3c.832G>T (p.Val278Leu)
c.-69+2373G>T (n.-69+2373G>T)
 gnomAD v4
10g.49611573T>ACA376720982CHAT,SLC18A3c.833T>A (p.Val278Glu)
c.-69+2374T>A (n.-69+2374T>A)
10g.49611573T>CCA376720984CHAT,SLC18A3c.833T>C (p.Val278Ala)
c.-69+2374T>C (n.-69+2374T>C)
 gnomAD v4
10g.49611573T>GCA376720986CHAT,SLC18A3c.833T>G (p.Val278Gly)
c.-69+2374T>G (n.-69+2374T>G)
10g.49611574G>ACA469791173CHAT,SLC18A3c.834G>A (p.Val278=)
c.-69+2375G>A (n.-69+2375G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611574G>CCA469791175CHAT,SLC18A3c.834G>C (p.Val278=)
c.-69+2375G>C (n.-69+2375G>C)
10g.49611574G=CA1908794188CHAT,SLC18A3c.834G= (p.Val278=)
c.-69+2375G= (n.-69+2375G=)
10g.49611574G>TCA469791174CHAT,SLC18A3c.834G>T (p.Val278=)
c.-69+2375G>T (n.-69+2375G>T)
 gnomAD v4
10g.49611575G>ACA206621235CHAT,SLC18A3c.835G>A (p.Gly279Ser)
c.-69+2376G>A (n.-69+2376G>A)
 dbSNP gnomAD v2
10g.49611575G>CCA376720989CHAT,SLC18A3c.835G>C (p.Gly279Arg)
c.-69+2376G>C (n.-69+2376G>C)
 COSMIC
10g.49611575G=CA1908794203CHAT,SLC18A3c.835G= (p.Gly279=)
c.-69+2376G= (n.-69+2376G=)
10g.49611575G>TCA376720992CHAT,SLC18A3c.835G>T (p.Gly279Cys)
c.-69+2376G>T (n.-69+2376G>T)
 gnomAD v4
10g.49611576G>ACA5496849CHAT,SLC18A3c.836G>A (p.Gly279Asp)
c.-69+2377G>A (n.-69+2377G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611576G>CCA376720998CHAT,SLC18A3c.836G>C (p.Gly279Ala)
c.-69+2377G>C (n.-69+2377G>C)
10g.49611576G=CA1908794211CHAT,SLC18A3c.836G= (p.Gly279=)
c.-69+2377G= (n.-69+2377G=)
10g.49611576G>TCA376720996CHAT,SLC18A3c.836G>T (p.Gly279Val)
c.-69+2377G>T (n.-69+2377G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611577C>ACA469791182CHAT,SLC18A3c.837C>A (p.Gly279=)
c.-69+2378C>A (n.-69+2378C>A)
10g.49611577C=CA1908794218CHAT,SLC18A3c.837C= (p.Gly279=)
c.-69+2378C= (n.-69+2378C=)
10g.49611577C>GCA469791179CHAT,SLC18A3c.837C>G (p.Gly279=)
c.-69+2378C>G (n.-69+2378C>G)
10g.49611577C>TCA469791181CHAT,SLC18A3c.837C>T (p.Gly279=)
c.-69+2378C>T (n.-69+2378C>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched