Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.49611578A>CCA376721001CHAT,SLC18A3c.838A>C (p.Thr280Pro)
c.-69+2379A>C (n.-69+2379A>C)
10g.49611578A>GCA376721006CHAT,SLC18A3c.838A>G (p.Thr280Ala)
c.-69+2379A>G (n.-69+2379A>G)
10g.49611578A>TCA376721003CHAT,SLC18A3c.838A>T (p.Thr280Ser)
c.-69+2379A>T (n.-69+2379A>T)
10g.49611579C>ACA376721008CHAT,SLC18A3c.839C>A (p.Thr280Asn)
c.-69+2380C>A (n.-69+2380C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611579C=CA1908794221CHAT,SLC18A3c.839C= (p.Thr280=)
c.-69+2380C= (n.-69+2380C=)
10g.49611579C>GCA376721012CHAT,SLC18A3c.839C>G (p.Thr280Ser)
c.-69+2380C>G (n.-69+2380C>G)
 gnomAD v4
10g.49611579C>TCA376721010CHAT,SLC18A3c.839C>T (p.Thr280Ile)
c.-69+2380C>T (n.-69+2380C>T)
 gnomAD v4
10g.49611580T>ACA469791187CHAT,SLC18A3c.840T>A (p.Thr280=)
c.-69+2381T>A (n.-69+2381T>A)
 ClinVar
10g.49611580T>CCA469791183CHAT,SLC18A3c.840T>C (p.Thr280=)
c.-69+2381T>C (n.-69+2381T>C)
10g.49611580T>GCA469791184CHAT,SLC18A3c.840T>G (p.Thr280=)
c.-69+2381T>G (n.-69+2381T>G)
10g.49611581C>ACA376721013CHAT,SLC18A3c.841C>A (p.Pro281Thr)
c.-69+2382C>A (n.-69+2382C>A)
 gnomAD v4
10g.49611581C=CA1908794225CHAT,SLC18A3c.841C= (p.Pro281=)
c.-69+2382C= (n.-69+2382C=)
10g.49611581C>GCA5496850CHAT,SLC18A3c.841C>G (p.Pro281Ala)
c.-69+2382C>G (n.-69+2382C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611581C>TCA376721014CHAT,SLC18A3c.841C>T (p.Pro281Ser)
c.-69+2382C>T (n.-69+2382C>T)
 gnomAD v4
10g.49611583delCA2609116364CHAT,SLC18A3c.843del (p.Ile282SerfsTer6)
c.-69+2384del (n.-69+2384del)
 gnomAD v4
10g.49611582C>ACA376721015CHAT,SLC18A3c.842C>A (p.Pro281His)
c.-69+2383C>A (n.-69+2383C>A)
10g.49611582C=CA1908794230CHAT,SLC18A3c.842C= (p.Pro281=)
c.-69+2383C= (n.-69+2383C=)
10g.49611582C>GCA376721016CHAT,SLC18A3c.842C>G (p.Pro281Arg)
c.-69+2383C>G (n.-69+2383C>G)
10g.49611582C>TCA5496851CHAT,SLC18A3c.842C>T (p.Pro281Leu)
c.-69+2383C>T (n.-69+2383C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611583C>ACA469791190CHAT,SLC18A3c.843C>A (p.Pro281=)
c.-69+2384C>A (n.-69+2384C>A)
10g.49611583C=CA1908794233CHAT,SLC18A3c.843C= (p.Pro281=)
c.-69+2384C= (n.-69+2384C=)
10g.49611583C>GCA5496852CHAT,SLC18A3c.843C>G (p.Pro281=)
c.-69+2384C>G (n.-69+2384C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611583C>TCA469791191CHAT,SLC18A3c.843C>T (p.Pro281=)
c.-69+2384C>T (n.-69+2384C>T)
10g.49611584A>CCA376721017CHAT,SLC18A3c.844A>C (p.Ile282Leu)
c.-69+2385A>C (n.-69+2385A>C)
10g.49611584A>GCA376721018CHAT,SLC18A3c.844A>G (p.Ile282Val)
c.-69+2385A>G (n.-69+2385A>G)
10g.49611584A>TCA376721019CHAT,SLC18A3c.844A>T (p.Ile282Phe)
c.-69+2385A>T (n.-69+2385A>T)
 gnomAD v4
10g.49611585T>ACA376721020CHAT,SLC18A3c.845T>A (p.Ile282Asn)
c.-69+2386T>A (n.-69+2386T>A)
10g.49611585T>CCA376721021CHAT,SLC18A3c.845T>C (p.Ile282Thr)
c.-69+2386T>C (n.-69+2386T>C)
10g.49611585T>GCA376721022CHAT,SLC18A3c.845T>G (p.Ile282Ser)
c.-69+2386T>G (n.-69+2386T>G)
10g.49611586C>ACA469791194CHAT,SLC18A3c.846C>A (p.Ile282=)
c.-69+2387C>A (n.-69+2387C>A)
 dbSNP
10g.49611586C=CA1908794236CHAT,SLC18A3c.846C= (p.Ile282=)
c.-69+2387C= (n.-69+2387C=)
10g.49611586C>GCA376721023CHAT,SLC18A3c.846C>G (p.Ile282Met)
c.-69+2387C>G (n.-69+2387C>G)
10g.49611586C>TCA469791195CHAT,SLC18A3c.846C>T (p.Ile282=)
c.-69+2387C>T (n.-69+2387C>T)
 COSMIC
10g.49611587C>ACA376721024CHAT,SLC18A3c.847C>A (p.His283Asn)
c.-69+2388C>A (n.-69+2388C>A)
10g.49611587C>GCA376721025CHAT,SLC18A3c.847C>G (p.His283Asp)
c.-69+2388C>G (n.-69+2388C>G)
10g.49611587C>TCA376721026CHAT,SLC18A3c.847C>T (p.His283Tyr)
c.-69+2388C>T (n.-69+2388C>T)
 dbSNP gnomAD v4
10g.49611588A=CA1908794240CHAT,SLC18A3c.848A= (p.His283=)
c.-69+2389A= (n.-69+2389A=)
10g.49611588A>CCA376721027CHAT,SLC18A3c.848A>C (p.His283Pro)
c.-69+2389A>C (n.-69+2389A>C)
10g.49611588A>GCA376721029CHAT,SLC18A3c.848A>G (p.His283Arg)
c.-69+2389A>G (n.-69+2389A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611588A>TCA376721028CHAT,SLC18A3c.848A>T (p.His283Leu)
c.-69+2389A>T (n.-69+2389A>T)
10g.49611589C>ACA376721030CHAT,SLC18A3c.849C>A (p.His283Gln)
c.-69+2390C>A (n.-69+2390C>A)
10g.49611589C=CA1908794242CHAT,SLC18A3c.849C= (p.His283=)
c.-69+2390C= (n.-69+2390C=)
10g.49611589C>GCA376721031CHAT,SLC18A3c.849C>G (p.His283Gln)
c.-69+2390C>G (n.-69+2390C>G)
10g.49611589C>TCA469791200CHAT,SLC18A3c.849C>T (p.His283=)
c.-69+2390C>T (n.-69+2390C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611590C>ACA376721032CHAT,SLC18A3c.850C>A (p.Arg284Ser)
c.-69+2391C>A (n.-69+2391C>A)
10g.49611590C=CA1908794249CHAT,SLC18A3c.850C= (p.Arg284=)
c.-69+2391C= (n.-69+2391C=)
10g.49611590C>GCA376721033CHAT,SLC18A3c.850C>G (p.Arg284Gly)
c.-69+2391C>G (n.-69+2391C>G)
10g.49611590C>TCA5496853CHAT,SLC18A3c.850C>T (p.Arg284Cys)
c.-69+2391C>T (n.-69+2391C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611591G>ACA376721034CHAT,SLC18A3c.851G>A (p.Arg284His)
c.-69+2392G>A (n.-69+2392G>A)
 ClinVar dbSNP gnomAD v4
10g.49611591G>CCA376721035CHAT,SLC18A3c.851G>C (p.Arg284Pro)
c.-69+2392G>C (n.-69+2392G>C)
10g.49611591G>TCA376721036CHAT,SLC18A3c.851G>T (p.Arg284Leu)
c.-69+2392G>T (n.-69+2392G>T)
10g.49611592C>ACA469791202CHAT,SLC18A3c.852C>A (p.Arg284=)
c.-69+2393C>A (n.-69+2393C>A)
10g.49611592C>GCA469791203CHAT,SLC18A3c.852C>G (p.Arg284=)
c.-69+2393C>G (n.-69+2393C>G)
10g.49611592C>TCA469791204CHAT,SLC18A3c.852C>T (p.Arg284=)
c.-69+2393C>T (n.-69+2393C>T)
 gnomAD v4
10g.49611593C>ACA376721038CHAT,SLC18A3c.853C>A (p.Leu285Ile)
c.-69+2394C>A (n.-69+2394C>A)
10g.49611593C>GCA376721039CHAT,SLC18A3c.853C>G (p.Leu285Val)
c.-69+2394C>G (n.-69+2394C>G)
10g.49611593C>TCA376721037CHAT,SLC18A3c.853C>T (p.Leu285Phe)
c.-69+2394C>T (n.-69+2394C>T)
10g.49611594T>ACA376721040CHAT,SLC18A3c.854T>A (p.Leu285His)
c.-69+2395T>A (n.-69+2395T>A)
10g.49611594T>CCA376721041CHAT,SLC18A3c.854T>C (p.Leu285Pro)
c.-69+2395T>C (n.-69+2395T>C)
 ClinVar dbSNP
10g.49611594T>GCA376721042CHAT,SLC18A3c.854T>G (p.Leu285Arg)
c.-69+2395T>G (n.-69+2395T>G)
10g.49611594T=CA1908794253CHAT,SLC18A3c.854T= (p.Leu285=)
c.-69+2395T= (n.-69+2395T=)
10g.49611595C>ACA469791209CHAT,SLC18A3c.855C>A (p.Leu285=)
c.-69+2396C>A (n.-69+2396C>A)
 gnomAD v4
10g.49611595C=CA1908794261CHAT,SLC18A3c.855C= (p.Leu285=)
c.-69+2396C= (n.-69+2396C=)
10g.49611595C>GCA469791208CHAT,SLC18A3c.855C>G (p.Leu285=)
c.-69+2396C>G (n.-69+2396C>G)
10g.49611595C>TCA5496854CHAT,SLC18A3c.855C>T (p.Leu285=)
c.-69+2396C>T (n.-69+2396C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611596A=CA1908794265CHAT,SLC18A3c.856A= (p.Met286=)
c.-69+2397A= (n.-69+2397A=)
10g.49611596A>CCA206621252CHAT,SLC18A3c.856A>C (p.Met286Leu)
c.-69+2397A>C (n.-69+2397A>C)
 dbSNP gnomAD v4
10g.49611596A>GCA5496855CHAT,SLC18A3c.856A>G (p.Met286Val)
c.-69+2397A>G (n.-69+2397A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611596A>TCA376721043CHAT,SLC18A3c.856A>T (p.Met286Leu)
c.-69+2397A>T (n.-69+2397A>T)
10g.49611597T>ACA376721044CHAT,SLC18A3c.857T>A (p.Met286Lys)
c.-69+2398T>A (n.-69+2398T>A)
10g.49611597T>CCA376721045CHAT,SLC18A3c.857T>C (p.Met286Thr)
c.-69+2398T>C (n.-69+2398T>C)
10g.49611597T>GCA376721046CHAT,SLC18A3c.857T>G (p.Met286Arg)
c.-69+2398T>G (n.-69+2398T>G)
10g.49611598G>ACA376721047CHAT,SLC18A3c.858G>A (p.Met286Ile)
c.-69+2399G>A (n.-69+2399G>A)
 gnomAD v4
10g.49611598G>CCA376721048CHAT,SLC18A3c.858G>C (p.Met286Ile)
c.-69+2399G>C (n.-69+2399G>C)
10g.49611598G>TCA376721049CHAT,SLC18A3c.858G>T (p.Met286Ile)
c.-69+2399G>T (n.-69+2399G>T)
 gnomAD v4
10g.49611599C>ACA376721050CHAT,SLC18A3c.859C>A (p.Leu287Ile)
c.-69+2400C>A (n.-69+2400C>A)
10g.49611599C>GCA376721051CHAT,SLC18A3c.859C>G (p.Leu287Val)
c.-69+2400C>G (n.-69+2400C>G)
10g.49611599C>TCA469791215CHAT,SLC18A3c.859C>T (p.Leu287=)
c.-69+2400C>T (n.-69+2400C>T)
 gnomAD v4 COSMIC
10g.49611600T>ACA376721052CHAT,SLC18A3c.860T>A (p.Leu287Gln)
c.-69+2401T>A (n.-69+2401T>A)
10g.49611600T>CCA376721053CHAT,SLC18A3c.860T>C (p.Leu287Pro)
c.-69+2401T>C (n.-69+2401T>C)
 gnomAD v4
10g.49611600T>GCA376721054CHAT,SLC18A3c.860T>G (p.Leu287Arg)
c.-69+2401T>G (n.-69+2401T>G)
10g.49611601A=CA1908794272CHAT,SLC18A3c.861A= (p.Leu287=)
c.-69+2402A= (n.-69+2402A=)
10g.49611601A>CCA469791220CHAT,SLC18A3c.861A>C (p.Leu287=)
c.-69+2402A>C (n.-69+2402A>C)
10g.49611601A>GCA469791219CHAT,SLC18A3c.861A>G (p.Leu287=)
c.-69+2402A>G (n.-69+2402A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611601A>TCA469791217CHAT,SLC18A3c.861A>T (p.Leu287=)
c.-69+2402A>T (n.-69+2402A>T)
10g.49611602G>ACA376721055CHAT,SLC18A3c.862G>A (p.Asp288Asn)
c.-69+2403G>A (n.-69+2403G>A)
10g.49611602G>CCA376721056CHAT,SLC18A3c.862G>C (p.Asp288His)
c.-69+2403G>C (n.-69+2403G>C)
10g.49611602G>TCA376721057CHAT,SLC18A3c.862G>T (p.Asp288Tyr)
c.-69+2403G>T (n.-69+2403G>T)
 gnomAD v4
10g.49611603A=CA1908794275CHAT,SLC18A3c.863A= (p.Asp288=)
c.-69+2404A= (n.-69+2404A=)
10g.49611603A>CCA376721058CHAT,SLC18A3c.863A>C (p.Asp288Ala)
c.-69+2404A>C (n.-69+2404A>C)
 dbSNP
10g.49611603A>GCA376721059CHAT,SLC18A3c.863A>G (p.Asp288Gly)
c.-69+2404A>G (n.-69+2404A>G)
10g.49611603A>TCA376721060CHAT,SLC18A3c.863A>T (p.Asp288Val)
c.-69+2404A>T (n.-69+2404A>T)
10g.49611604C>ACA5496857CHAT,SLC18A3c.864C>A (p.Asp288Glu)
c.-69+2405C>A (n.-69+2405C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611604C=CA1908794283CHAT,SLC18A3c.864C= (p.Asp288=)
c.-69+2405C= (n.-69+2405C=)
10g.49611604C>GCA376721061CHAT,SLC18A3c.864C>G (p.Asp288Glu)
c.-69+2405C>G (n.-69+2405C>G)
10g.49611604C>TCA5496856CHAT,SLC18A3c.864C>T (p.Asp288=)
c.-69+2405C>T (n.-69+2405C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49611605C>ACA376721063CHAT,SLC18A3c.865C>A (p.Pro289Thr)
c.-69+2406C>A (n.-69+2406C>A)
10g.49611605C>GCA376721064CHAT,SLC18A3c.865C>G (p.Pro289Ala)
c.-69+2406C>G (n.-69+2406C>G)
10g.49611605C>TCA376721062CHAT,SLC18A3c.865C>T (p.Pro289Ser)
c.-69+2406C>T (n.-69+2406C>T)
 gnomAD v4

Number of alleles fetched