Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611683T>ACA376721332CHAT,SLC18A3c.943T>A (p.Trp315Arg)
c.-69+2484T>A (n.-69+2484T>A)
10g.49611683T>CCA376721336CHAT,SLC18A3c.943T>C (p.Trp315Arg)
c.-69+2484T>C (n.-69+2484T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611683T>GCA5496877CHAT,SLC18A3c.943T>G (p.Trp315Gly)
c.-69+2484T>G (n.-69+2484T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611683T=CA1908794501CHAT,SLC18A3c.943T= (p.Trp315=)
c.-69+2484T= (n.-69+2484T=)
10g.49611685_49611688delCA2609116660CHAT,SLC18A3c.945_948del (p.Trp315Ter)
c.-69+2486_-69+2489del (n.-69+2486_-69+2489del)
 gnomAD v4
10g.49611684G>ACA376721342CHAT,SLC18A3c.944G>A (p.Trp315Ter)
c.-69+2485G>A (n.-69+2485G>A)
 COSMIC
10g.49611684G>CCA376721344CHAT,SLC18A3c.944G>C (p.Trp315Ser)
c.-69+2485G>C (n.-69+2485G>C)
10g.49611684G>TCA376721340CHAT,SLC18A3c.944G>T (p.Trp315Leu)
c.-69+2485G>T (n.-69+2485G>T)
 gnomAD v4
10g.49611685G>ACA376721353CHAT,SLC18A3c.945G>A (p.Trp315Ter)
c.-69+2486G>A (n.-69+2486G>A)
 ClinVar dbSNP gnomAD v4
10g.49611685G>CCA376721347CHAT,SLC18A3c.945G>C (p.Trp315Cys)
c.-69+2486G>C (n.-69+2486G>C)
10g.49611685G=CA1908794504CHAT,SLC18A3c.945G= (p.Trp315=)
c.-69+2486G= (n.-69+2486G=)
10g.49611685G>TCA376721350CHAT,SLC18A3c.945G>T (p.Trp315Cys)
c.-69+2486G>T (n.-69+2486G>T)
10g.49611686A=CA1908794509CHAT,SLC18A3c.946A= (p.Met316=)
c.-69+2487A= (n.-69+2487A=)
10g.49611686A>CCA376721356CHAT,SLC18A3c.946A>C (p.Met316Leu)
c.-69+2487A>C (n.-69+2487A>C)
10g.49611686A>GCA376721358CHAT,SLC18A3c.946A>G (p.Met316Val)
c.-69+2487A>G (n.-69+2487A>G)
10g.49611686A>TCA5496878CHAT,SLC18A3c.946A>T (p.Met316Leu)
c.-69+2487A>T (n.-69+2487A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611687T>ACA376721366CHAT,SLC18A3c.947T>A (p.Met316Lys)
c.-69+2488T>A (n.-69+2488T>A)
10g.49611687T>CCA376721363CHAT,SLC18A3c.947T>C (p.Met316Thr)
c.-69+2488T>C (n.-69+2488T>C)
10g.49611687T>GCA376721362CHAT,SLC18A3c.947T>G (p.Met316Arg)
c.-69+2488T>G (n.-69+2488T>G)
10g.49611688G>ACA376721369CHAT,SLC18A3c.948G>A (p.Met316Ile)
c.-69+2489G>A (n.-69+2489G>A)
10g.49611688G>CCA376721370CHAT,SLC18A3c.948G>C (p.Met316Ile)
c.-69+2489G>C (n.-69+2489G>C)
10g.49611688G>TCA376721371CHAT,SLC18A3c.948G>T (p.Met316Ile)
c.-69+2489G>T (n.-69+2489G>T)
 gnomAD v4
10g.49611689A>CCA376721375CHAT,SLC18A3c.949A>C (p.Lys317Gln)
c.-69+2490A>C (n.-69+2490A>C)
 ClinVar
10g.49611689A>GCA376721377CHAT,SLC18A3c.949A>G (p.Lys317Glu)
c.-69+2490A>G (n.-69+2490A>G)
10g.49611689A>TCA376721379CHAT,SLC18A3c.949A>T (p.Lys317Ter)
c.-69+2490A>T (n.-69+2490A>T)
10g.49611690A>CCA376721387CHAT,SLC18A3c.950A>C (p.Lys317Thr)
c.-69+2491A>C (n.-69+2491A>C)
10g.49611690A>GCA376721382CHAT,SLC18A3c.950A>G (p.Lys317Arg)
c.-69+2491A>G (n.-69+2491A>G)
10g.49611690A>TCA376721385CHAT,SLC18A3c.950A>T (p.Lys317Met)
c.-69+2491A>T (n.-69+2491A>T)
10g.49611691G>ACA469791355CHAT,SLC18A3c.951G>A (p.Lys317=)
c.-69+2492G>A (n.-69+2492G>A)
 gnomAD v4
10g.49611691G>CCA376721390CHAT,SLC18A3c.951G>C (p.Lys317Asn)
c.-69+2492G>C (n.-69+2492G>C)
10g.49611691G=CA1908794513CHAT,SLC18A3c.951G= (p.Lys317=)
c.-69+2492G= (n.-69+2492G=)
10g.49611691G>TCA376721391CHAT,SLC18A3c.951G>T (p.Lys317Asn)
c.-69+2492G>T (n.-69+2492G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611692C>ACA376721395CHAT,SLC18A3c.952C>A (p.His318Asn)
c.-69+2493C>A (n.-69+2493C>A)
10g.49611692C>GCA376721397CHAT,SLC18A3c.952C>G (p.His318Asp)
c.-69+2493C>G (n.-69+2493C>G)
10g.49611692C>TCA376721400CHAT,SLC18A3c.952C>T (p.His318Tyr)
c.-69+2493C>T (n.-69+2493C>T)
 gnomAD v4
10g.49611693A>CCA376721402CHAT,SLC18A3c.953A>C (p.His318Pro)
c.-69+2494A>C (n.-69+2494A>C)
10g.49611693A>GCA376721404CHAT,SLC18A3c.953A>G (p.His318Arg)
c.-69+2494A>G (n.-69+2494A>G)
10g.49611693A>TCA376721407CHAT,SLC18A3c.953A>T (p.His318Leu)
c.-69+2494A>T (n.-69+2494A>T)
10g.49611694T>ACA376721410CHAT,SLC18A3c.954T>A (p.His318Gln)
c.-69+2495T>A (n.-69+2495T>A)
10g.49611694T>CCA469791359CHAT,SLC18A3c.954T>C (p.His318=)
c.-69+2495T>C (n.-69+2495T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611694T>GCA376721412CHAT,SLC18A3c.954T>G (p.His318Gln)
c.-69+2495T>G (n.-69+2495T>G)
10g.49611694T=CA1908794521CHAT,SLC18A3c.954T= (p.His318=)
c.-69+2495T= (n.-69+2495T=)
10g.49611695A>CCA376721415CHAT,SLC18A3c.955A>C (p.Thr319Pro)
c.-69+2496A>C (n.-69+2496A>C)
10g.49611695A>GCA376721417CHAT,SLC18A3c.955A>G (p.Thr319Ala)
c.-69+2496A>G (n.-69+2496A>G)
10g.49611695A>TCA376721420CHAT,SLC18A3c.955A>T (p.Thr319Ser)
c.-69+2496A>T (n.-69+2496A>T)
10g.49611696C>ACA5496879CHAT,SLC18A3c.956C>A (p.Thr319Lys)
c.-69+2497C>A (n.-69+2497C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611696C=CA1908794528CHAT,SLC18A3c.956C= (p.Thr319=)
c.-69+2497C= (n.-69+2497C=)
10g.49611696C>GCA5496880CHAT,SLC18A3c.956C>G (p.Thr319Arg)
c.-69+2497C>G (n.-69+2497C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611696C>TCA376721425CHAT,SLC18A3c.956C>T (p.Thr319Met)
c.-69+2497C>T (n.-69+2497C>T)
 gnomAD v4 COSMIC
10g.49611697G>ACA5496881CHAT,SLC18A3c.957G>A (p.Thr319=)
c.-69+2498G>A (n.-69+2498G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611697G>CCA469791366CHAT,SLC18A3c.957G>C (p.Thr319=)
c.-69+2498G>C (n.-69+2498G>C)
 gnomAD v4
10g.49611697G=CA1908794535CHAT,SLC18A3c.957G= (p.Thr319=)
c.-69+2498G= (n.-69+2498G=)
10g.49611697G>TCA469791365CHAT,SLC18A3c.957G>T (p.Thr319=)
c.-69+2498G>T (n.-69+2498G>T)
 gnomAD v4
10g.49611698A>CCA376721431CHAT,SLC18A3c.958A>C (p.Met320Leu)
c.-69+2499A>C (n.-69+2499A>C)
10g.49611698A>GCA376721434CHAT,SLC18A3c.958A>G (p.Met320Val)
c.-69+2499A>G (n.-69+2499A>G)
10g.49611698A>TCA376721436CHAT,SLC18A3c.958A>T (p.Met320Leu)
c.-69+2499A>T (n.-69+2499A>T)
10g.49611699T>ACA376721440CHAT,SLC18A3c.959T>A (p.Met320Lys)
c.-69+2500T>A (n.-69+2500T>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611699T>CCA376721441CHAT,SLC18A3c.959T>C (p.Met320Thr)
c.-69+2500T>C (n.-69+2500T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611699T>GCA376721444CHAT,SLC18A3c.959T>G (p.Met320Arg)
c.-69+2500T>G (n.-69+2500T>G)
10g.49611699T=CA1908794538CHAT,SLC18A3c.959T= (p.Met320=)
c.-69+2500T= (n.-69+2500T=)
10g.49611700G>ACA5496882CHAT,SLC18A3c.960G>A (p.Met320Ile)
c.-69+2501G>A (n.-69+2501G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611700G>CCA376721448CHAT,SLC18A3c.960G>C (p.Met320Ile)
c.-69+2501G>C (n.-69+2501G>C)
10g.49611700G=CA1908794540CHAT,SLC18A3c.960G= (p.Met320=)
c.-69+2501G= (n.-69+2501G=)
10g.49611700G>TCA376721449CHAT,SLC18A3c.960G>T (p.Met320Ile)
c.-69+2501G>T (n.-69+2501G>T)
 gnomAD v4
10g.49611701G>ACA376721450CHAT,SLC18A3c.961G>A (p.Ala321Thr)
c.-69+2502G>A (n.-69+2502G>A)
 gnomAD v4
10g.49611701G>CCA376721451CHAT,SLC18A3c.961G>C (p.Ala321Pro)
c.-69+2502G>C (n.-69+2502G>C)
10g.49611701G>TCA376721452CHAT,SLC18A3c.961G>T (p.Ala321Ser)
c.-69+2502G>T (n.-69+2502G>T)
 gnomAD v4
10g.49611702C>ACA376721459CHAT,SLC18A3c.962C>A (p.Ala321Glu)
c.-69+2503C>A (n.-69+2503C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611702C=CA1908794543CHAT,SLC18A3c.962C= (p.Ala321=)
c.-69+2503C= (n.-69+2503C=)
10g.49611702C>GCA376721454CHAT,SLC18A3c.962C>G (p.Ala321Gly)
c.-69+2503C>G (n.-69+2503C>G)
10g.49611702C>TCA376721456CHAT,SLC18A3c.962C>T (p.Ala321Val)
c.-69+2503C>T (n.-69+2503C>T)
 gnomAD v4
10g.49611703G>ACA469791373CHAT,SLC18A3c.963G>A (p.Ala321=)
c.-69+2504G>A (n.-69+2504G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611703G>CCA469791375CHAT,SLC18A3c.963G>C (p.Ala321=)
c.-69+2504G>C (n.-69+2504G>C)
10g.49611703G=CA1908794544CHAT,SLC18A3c.963G= (p.Ala321=)
c.-69+2504G= (n.-69+2504G=)
10g.49611703G>TCA469791376CHAT,SLC18A3c.963G>T (p.Ala321=)
c.-69+2504G>T (n.-69+2504G>T)
 gnomAD v4
10g.49611704G>ACA376721462CHAT,SLC18A3c.964G>A (p.Ala322Thr)
c.-69+2505G>A (n.-69+2505G>A)
10g.49611704G>CCA376721463CHAT,SLC18A3c.964G>C (p.Ala322Pro)
c.-69+2505G>C (n.-69+2505G>C)
10g.49611704G>TCA376721466CHAT,SLC18A3c.964G>T (p.Ala322Ser)
c.-69+2505G>T (n.-69+2505G>T)
 gnomAD v4
10g.49611705C>ACA376721469CHAT,SLC18A3c.965C>A (p.Ala322Asp)
c.-69+2506C>A (n.-69+2506C>A)
10g.49611705C>GCA376721471CHAT,SLC18A3c.965C>G (p.Ala322Gly)
c.-69+2506C>G (n.-69+2506C>G)
10g.49611705C>TCA376721472CHAT,SLC18A3c.965C>T (p.Ala322Val)
c.-69+2506C>T (n.-69+2506C>T)
10g.49611706T>ACA469791381CHAT,SLC18A3c.966T>A (p.Ala322=)
c.-69+2507T>A (n.-69+2507T>A)
10g.49611706T>CCA469791380CHAT,SLC18A3c.966T>C (p.Ala322=)
c.-69+2507T>C (n.-69+2507T>C)
10g.49611706T>GCA469791382CHAT,SLC18A3c.966T>G (p.Ala322=)
c.-69+2507T>G (n.-69+2507T>G)
10g.49611707T>ACA376721475CHAT,SLC18A3c.967T>A (p.Ser323Thr)
c.-69+2508T>A (n.-69+2508T>A)
10g.49611707T>CCA376721477CHAT,SLC18A3c.967T>C (p.Ser323Pro)
c.-69+2508T>C (n.-69+2508T>C)
10g.49611707T>GCA376721479CHAT,SLC18A3c.967T>G (p.Ser323Ala)
c.-69+2508T>G (n.-69+2508T>G)
10g.49611708C>ACA376721482CHAT,SLC18A3c.968C>A (p.Ser323Tyr)
c.-69+2509C>A (n.-69+2509C>A)
10g.49611708C>GCA376721484CHAT,SLC18A3c.968C>G (p.Ser323Cys)
c.-69+2509C>G (n.-69+2509C>G)
10g.49611708C>TCA376721486CHAT,SLC18A3c.968C>T (p.Ser323Phe)
c.-69+2509C>T (n.-69+2509C>T)
 gnomAD v4
10g.49611709C>ACA469791387CHAT,SLC18A3c.969C>A (p.Ser323=)
c.-69+2510C>A (n.-69+2510C>A)
10g.49611709C>GCA469791386CHAT,SLC18A3c.969C>G (p.Ser323=)
c.-69+2510C>G (n.-69+2510C>G)
10g.49611709C>TCA469791385CHAT,SLC18A3c.969C>T (p.Ser323=)
c.-69+2510C>T (n.-69+2510C>T)
10g.49611710G>ACA376721488CHAT,SLC18A3c.970G>A (p.Glu324Lys)
c.-69+2511G>A (n.-69+2511G>A)
 gnomAD v4
10g.49611710G>CCA376721492CHAT,SLC18A3c.970G>C (p.Glu324Gln)
c.-69+2511G>C (n.-69+2511G>C)
10g.49611710G>TCA376721490CHAT,SLC18A3c.970G>T (p.Glu324Ter)
c.-69+2511G>T (n.-69+2511G>T)
 gnomAD v4 COSMIC
10g.49611711A>CCA376721495CHAT,SLC18A3c.971A>C (p.Glu324Ala)
c.-69+2512A>C (n.-69+2512A>C)
 gnomAD v4
10g.49611711A>GCA376721500CHAT,SLC18A3c.971A>G (p.Glu324Gly)
c.-69+2512A>G (n.-69+2512A>G)
 gnomAD v4
10g.49611711A>TCA376721497CHAT,SLC18A3c.971A>T (p.Glu324Val)
c.-69+2512A>T (n.-69+2512A>T)
10g.49611712G>ACA469791389CHAT,SLC18A3c.972G>A (p.Glu324=)
c.-69+2513G>A (n.-69+2513G>A)
 ClinVar
10g.49611712G>CCA376721509CHAT,SLC18A3c.972G>C (p.Glu324Asp)
c.-69+2513G>C (n.-69+2513G>C)
10g.49611712G=CA1908794545CHAT,SLC18A3c.972G= (p.Glu324=)
c.-69+2513G= (n.-69+2513G=)
10g.49611712G>TCA376721511CHAT,SLC18A3c.972G>T (p.Glu324Asp)
c.-69+2513G>T (n.-69+2513G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611713T>ACA376721514CHAT,SLC18A3c.973T>A (p.Trp325Arg)
c.-69+2514T>A (n.-69+2514T>A)
10g.49611713T>CCA376721515CHAT,SLC18A3c.973T>C (p.Trp325Arg)
c.-69+2514T>C (n.-69+2514T>C)
10g.49611713T>GCA376721518CHAT,SLC18A3c.973T>G (p.Trp325Gly)
c.-69+2514T>G (n.-69+2514T>G)
10g.49611714G>ACA376721521CHAT,SLC18A3c.974G>A (p.Trp325Ter)
c.-69+2515G>A (n.-69+2515G>A)
 gnomAD v4
10g.49611714G>CCA376721523CHAT,SLC18A3c.974G>C (p.Trp325Ser)
c.-69+2515G>C (n.-69+2515G>C)
10g.49611714G>TCA376721524CHAT,SLC18A3c.974G>T (p.Trp325Leu)
c.-69+2515G>T (n.-69+2515G>T)
 gnomAD v4
10g.49611716delCA2609116759CHAT,SLC18A3c.976del (p.Glu326ArgfsTer?)
c.-69+2517del (n.-69+2517del)
 gnomAD v4
10g.49611715G>ACA376721526CHAT,SLC18A3c.975G>A (p.Trp325Ter)
c.-69+2516G>A (n.-69+2516G>A)
10g.49611715G>CCA376721528CHAT,SLC18A3c.975G>C (p.Trp325Cys)
c.-69+2516G>C (n.-69+2516G>C)
10g.49611715G>TCA376721530CHAT,SLC18A3c.975G>T (p.Trp325Cys)
c.-69+2516G>T (n.-69+2516G>T)
10g.49611716G>ACA376721538CHAT,SLC18A3c.976G>A (p.Glu326Lys)
c.-69+2517G>A (n.-69+2517G>A)
 COSMIC
10g.49611716G>CCA376721536CHAT,SLC18A3c.976G>C (p.Glu326Gln)
c.-69+2517G>C (n.-69+2517G>C)
10g.49611716G>TCA376721534CHAT,SLC18A3c.976G>T (p.Glu326Ter)
c.-69+2517G>T (n.-69+2517G>T)
 gnomAD v4
10g.49611717A>CCA376721541CHAT,SLC18A3c.977A>C (p.Glu326Ala)
c.-69+2518A>C (n.-69+2518A>C)
10g.49611717A>GCA376721543CHAT,SLC18A3c.977A>G (p.Glu326Gly)
c.-69+2518A>G (n.-69+2518A>G)
 COSMIC
10g.49611717A>TCA376721544CHAT,SLC18A3c.977A>T (p.Glu326Val)
c.-69+2518A>T (n.-69+2518A>T)
10g.49611718G>ACA469791397CHAT,SLC18A3c.978G>A (p.Glu326=)
c.-69+2519G>A (n.-69+2519G>A)
10g.49611718G>CCA376721548CHAT,SLC18A3c.978G>C (p.Glu326Asp)
c.-69+2519G>C (n.-69+2519G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611718G=CA1908794546CHAT,SLC18A3c.978G= (p.Glu326=)
c.-69+2519G= (n.-69+2519G=)
10g.49611718G>TCA376721549CHAT,SLC18A3c.978G>T (p.Glu326Asp)
c.-69+2519G>T (n.-69+2519G>T)
 gnomAD v4
10g.49611719A>CCA376721553CHAT,SLC18A3c.979A>C (p.Met327Leu)
c.-69+2520A>C (n.-69+2520A>C)
10g.49611719A>GCA376721555CHAT,SLC18A3c.979A>G (p.Met327Val)
c.-69+2520A>G (n.-69+2520A>G)
10g.49611719A>TCA376721557CHAT,SLC18A3c.979A>T (p.Met327Leu)
c.-69+2520A>T (n.-69+2520A>T)
10g.49611720T>ACA376721559CHAT,SLC18A3c.980T>A (p.Met327Lys)
c.-69+2521T>A (n.-69+2521T>A)
10g.49611720T>CCA376721561CHAT,SLC18A3c.980T>C (p.Met327Thr)
c.-69+2521T>C (n.-69+2521T>C)
10g.49611720T>GCA376721563CHAT,SLC18A3c.980T>G (p.Met327Arg)
c.-69+2521T>G (n.-69+2521T>G)
10g.49611721G>ACA376721570CHAT,SLC18A3c.981G>A (p.Met327Ile)
c.-69+2522G>A (n.-69+2522G>A)
 gnomAD v4
10g.49611721G>CCA376721568CHAT,SLC18A3c.981G>C (p.Met327Ile)
c.-69+2522G>C (n.-69+2522G>C)
10g.49611721G>TCA376721567CHAT,SLC18A3c.981G>T (p.Met327Ile)
c.-69+2522G>T (n.-69+2522G>T)
 dbSNP gnomAD v4
10g.49611722G>ACA376721574CHAT,SLC18A3c.982G>A (p.Gly328Ser)
c.-69+2523G>A (n.-69+2523G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611722G>CCA376721576CHAT,SLC18A3c.982G>C (p.Gly328Arg)
c.-69+2523G>C (n.-69+2523G>C)
 gnomAD v4
10g.49611722G=CA1908794547CHAT,SLC18A3c.982G= (p.Gly328=)
c.-69+2523G= (n.-69+2523G=)
10g.49611722G>TCA376721578CHAT,SLC18A3c.982G>T (p.Gly328Cys)
c.-69+2523G>T (n.-69+2523G>T)
 gnomAD v4
10g.49611723G>ACA376721581CHAT,SLC18A3c.983G>A (p.Gly328Asp)
c.-69+2524G>A (n.-69+2524G>A)
 gnomAD v4
10g.49611723G>CCA376721583CHAT,SLC18A3c.983G>C (p.Gly328Ala)
c.-69+2524G>C (n.-69+2524G>C)
10g.49611723G>TCA376721585CHAT,SLC18A3c.983G>T (p.Gly328Val)
c.-69+2524G>T (n.-69+2524G>T)
 gnomAD v4
10g.49611724C>ACA469791404CHAT,SLC18A3c.984C>A (p.Gly328=)
c.-69+2525C>A (n.-69+2525C>A)
10g.49611724C=CA1908794548CHAT,SLC18A3c.984C= (p.Gly328=)
c.-69+2525C= (n.-69+2525C=)
10g.49611724C>GCA469791402CHAT,SLC18A3c.984C>G (p.Gly328=)
c.-69+2525C>G (n.-69+2525C>G)
10g.49611724C>TCA206621328CHAT,SLC18A3c.984C>T (p.Gly328=)
c.-69+2525C>T (n.-69+2525C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611725A=CA1908794549CHAT,SLC18A3c.985A= (p.Met329=)
c.-69+2526A= (n.-69+2526A=)
10g.49611725A>CCA376721591CHAT,SLC18A3c.985A>C (p.Met329Leu)
c.-69+2526A>C (n.-69+2526A>C)
10g.49611725A>GCA376721593CHAT,SLC18A3c.985A>G (p.Met329Val)
c.-69+2526A>G (n.-69+2526A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611725A>TCA376721595CHAT,SLC18A3c.985A>T (p.Met329Leu)
c.-69+2526A>T (n.-69+2526A>T)
 ClinVar
10g.49611726T>ACA376721597CHAT,SLC18A3c.986T>A (p.Met329Lys)
c.-69+2527T>A (n.-69+2527T>A)
10g.49611726T>CCA376721598CHAT,SLC18A3c.986T>C (p.Met329Thr)
c.-69+2527T>C (n.-69+2527T>C)
 gnomAD v4
10g.49611726T>GCA376721600CHAT,SLC18A3c.986T>G (p.Met329Arg)
c.-69+2527T>G (n.-69+2527T>G)
10g.49611727G>ACA376721609CHAT,SLC18A3c.987G>A (p.Met329Ile)
c.-69+2528G>A (n.-69+2528G>A)
 dbSNP gnomAD v2
10g.49611727G>CCA376721604CHAT,SLC18A3c.987G>C (p.Met329Ile)
c.-69+2528G>C (n.-69+2528G>C)
10g.49611727G=CA1908794550CHAT,SLC18A3c.987G= (p.Met329=)
c.-69+2528G= (n.-69+2528G=)
10g.49611727G>TCA376721606CHAT,SLC18A3c.987G>T (p.Met329Ile)
c.-69+2528G>T (n.-69+2528G>T)
 dbSNP
10g.49611728G>ACA376721611CHAT,SLC18A3c.988G>A (p.Ala330Thr)
c.-69+2529G>A (n.-69+2529G>A)
 gnomAD v4
10g.49611728G>CCA376721613CHAT,SLC18A3c.988G>C (p.Ala330Pro)
c.-69+2529G>C (n.-69+2529G>C)
10g.49611728G>TCA376721615CHAT,SLC18A3c.988G>T (p.Ala330Ser)
c.-69+2529G>T (n.-69+2529G>T)
 ClinVar gnomAD v4
10g.49611729C>ACA376721619CHAT,SLC18A3c.989C>A (p.Ala330Asp)
c.-69+2530C>A (n.-69+2530C>A)
 gnomAD v4
10g.49611729C>GCA376721621CHAT,SLC18A3c.989C>G (p.Ala330Gly)
c.-69+2530C>G (n.-69+2530C>G)
10g.49611729C>TCA376721623CHAT,SLC18A3c.989C>T (p.Ala330Val)
c.-69+2530C>T (n.-69+2530C>T)
 gnomAD v4
10g.49611730delCA2609116799CHAT,SLC18A3c.990del (p.Trp331GlyfsTer?)
c.-69+2531del (n.-69+2531del)
 gnomAD v4
10g.49611730C>ACA469791410CHAT,SLC18A3c.990C>A (p.Ala330=)
c.-69+2531C>A (n.-69+2531C>A)
10g.49611730C>GCA469791413CHAT,SLC18A3c.990C>G (p.Ala330=)
c.-69+2531C>G (n.-69+2531C>G)
10g.49611730C>TCA469791411CHAT,SLC18A3c.990C>T (p.Ala330=)
c.-69+2531C>T (n.-69+2531C>T)
10g.49611731T>ACA376721627CHAT,SLC18A3c.991T>A (p.Trp331Arg)
c.-69+2532T>A (n.-69+2532T>A)
10g.49611731T>CCA376721630CHAT,SLC18A3c.991T>C (p.Trp331Arg)
c.-69+2532T>C (n.-69+2532T>C)
10g.49611731T>GCA376721632CHAT,SLC18A3c.991T>G (p.Trp331Gly)
c.-69+2532T>G (n.-69+2532T>G)
 gnomAD v4
10g.49611732G>ACA376721636CHAT,SLC18A3c.992G>A (p.Trp331Ter)
c.-69+2533G>A (n.-69+2533G>A)
10g.49611732G>CCA376721638CHAT,SLC18A3c.992G>C (p.Trp331Ser)
c.-69+2533G>C (n.-69+2533G>C)
10g.49611732G>TCA376721640CHAT,SLC18A3c.992G>T (p.Trp331Leu)
c.-69+2533G>T (n.-69+2533G>T)
 gnomAD v4
10g.49611733G>ACA376721646CHAT,SLC18A3c.993G>A (p.Trp331Ter)
c.-69+2534G>A (n.-69+2534G>A)
 gnomAD v4
10g.49611733G>CCA376721648CHAT,SLC18A3c.993G>C (p.Trp331Cys)
c.-69+2534G>C (n.-69+2534G>C)
10g.49611733G>TCA376721644CHAT,SLC18A3c.993G>T (p.Trp331Cys)
c.-69+2534G>T (n.-69+2534G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611734C>ACA376721654CHAT,SLC18A3c.994C>A (p.Leu332Met)
c.-69+2535C>A (n.-69+2535C>A)
 gnomAD v4
10g.49611734C=CA1908794554CHAT,SLC18A3c.994C= (p.Leu332=)
c.-69+2535C= (n.-69+2535C=)
10g.49611734C>GCA376721652CHAT,SLC18A3c.994C>G (p.Leu332Val)
c.-69+2535C>G (n.-69+2535C>G)
10g.49611734C>TCA469791416CHAT,SLC18A3c.994C>T (p.Leu332=)
c.-69+2535C>T (n.-69+2535C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611735T>ACA376721657CHAT,SLC18A3c.995T>A (p.Leu332Gln)
c.-69+2536T>A (n.-69+2536T>A)
10g.49611735T>CCA376721659CHAT,SLC18A3c.995T>C (p.Leu332Pro)
c.-69+2536T>C (n.-69+2536T>C)
10g.49611735T>GCA376721661CHAT,SLC18A3c.995T>G (p.Leu332Arg)
c.-69+2536T>G (n.-69+2536T>G)
10g.49611736G>ACA469791420CHAT,SLC18A3c.996G>A (p.Leu332=)
c.-69+2537G>A (n.-69+2537G>A)
 gnomAD v4
10g.49611736G>CCA469791421CHAT,SLC18A3c.996G>C (p.Leu332=)
c.-69+2537G>C (n.-69+2537G>C)
10g.49611736G>TCA469791422CHAT,SLC18A3c.996G>T (p.Leu332=)
c.-69+2537G>T (n.-69+2537G>T)
 gnomAD v4
10g.49611737C>ACA376721665CHAT,SLC18A3c.997C>A (p.Pro333Thr)
c.-69+2538C>A (n.-69+2538C>A)
10g.49611737C>GCA376721667CHAT,SLC18A3c.997C>G (p.Pro333Ala)
c.-69+2538C>G (n.-69+2538C>G)
10g.49611737C>TCA376721670CHAT,SLC18A3c.997C>T (p.Pro333Ser)
c.-69+2538C>T (n.-69+2538C>T)
 gnomAD v4
10g.49611738C>ACA376721672CHAT,SLC18A3c.998C>A (p.Pro333Gln)
c.-69+2539C>A (n.-69+2539C>A)
10g.49611738C=CA1908794559CHAT,SLC18A3c.998C= (p.Pro333=)
c.-69+2539C= (n.-69+2539C=)
10g.49611738C>GCA376721675CHAT,SLC18A3c.998C>G (p.Pro333Arg)
c.-69+2539C>G (n.-69+2539C>G)
 gnomAD v4
10g.49611738C>TCA376721676CHAT,SLC18A3c.998C>T (p.Pro333Leu)
c.-69+2539C>T (n.-69+2539C>T)
 dbSNP gnomAD v4
10g.49611739G>ACA469791431CHAT,SLC18A3c.999G>A (p.Pro333=)
c.-69+2540G>A (n.-69+2540G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611739G>CCA469791432CHAT,SLC18A3c.999G>C (p.Pro333=)
c.-69+2540G>C (n.-69+2540G>C)
10g.49611739G=CA1908794565CHAT,SLC18A3c.999G= (p.Pro333=)
c.-69+2540G= (n.-69+2540G=)
10g.49611739G>TCA469791430CHAT,SLC18A3c.999G>T (p.Pro333=)
c.-69+2540G>T (n.-69+2540G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611740G>ACA376721680CHAT,SLC18A3c.1000G>A (p.Ala334Thr)
c.-69+2541G>A (n.-69+2541G>A)
 dbSNP COSMIC
10g.49611740G>CCA376721682CHAT,SLC18A3c.1000G>C (p.Ala334Pro)
c.-69+2541G>C (n.-69+2541G>C)
10g.49611740G=CA1908794567CHAT,SLC18A3c.1000G= (p.Ala334=)
c.-69+2541G= (n.-69+2541G=)
10g.49611740G>TCA376721684CHAT,SLC18A3c.1000G>T (p.Ala334Ser)
c.-69+2541G>T (n.-69+2541G>T)
 gnomAD v4
10g.49611741C>ACA376721691CHAT,SLC18A3c.1001C>A (p.Ala334Asp)
c.-69+2542C>A (n.-69+2542C>A)
 dbSNP
10g.49611741C=CA1908794571CHAT,SLC18A3c.1001C= (p.Ala334=)
c.-69+2542C= (n.-69+2542C=)
10g.49611741C>GCA376721687CHAT,SLC18A3c.1001C>G (p.Ala334Gly)
c.-69+2542C>G (n.-69+2542C>G)
10g.49611741C>TCA376721689CHAT,SLC18A3c.1001C>T (p.Ala334Val)
c.-69+2542C>T (n.-69+2542C>T)
 dbSNP gnomAD v2
10g.49611742C>ACA469791440CHAT,SLC18A3c.1002C>A (p.Ala334=)
c.-69+2543C>A (n.-69+2543C>A)
 gnomAD v4
10g.49611742C>GCA469791438CHAT,SLC18A3c.1002C>G (p.Ala334=)
c.-69+2543C>G (n.-69+2543C>G)
10g.49611742C>TCA469791436CHAT,SLC18A3c.1002C>T (p.Ala334=)
c.-69+2543C>T (n.-69+2543C>T)
10g.49611743_49611752delCA2609116831CHAT,SLC18A3c.1003_1012del (p.Phe335MetfsTer29)
c.-69+2544_-69+2553del (n.-69+2544_-69+2553del)
 gnomAD v4
10g.49611743T>ACA376721694CHAT,SLC18A3c.1003T>A (p.Phe335Ile)
c.-69+2544T>A (n.-69+2544T>A)
 dbSNP
10g.49611743T>CCA376721696CHAT,SLC18A3c.1003T>C (p.Phe335Leu)
c.-69+2544T>C (n.-69+2544T>C)
 gnomAD v4
10g.49611743T>GCA376721699CHAT,SLC18A3c.1003T>G (p.Phe335Val)
c.-69+2544T>G (n.-69+2544T>G)
10g.49611743T=CA1908794574CHAT,SLC18A3c.1003T= (p.Phe335=)
c.-69+2544T= (n.-69+2544T=)
10g.49611744T>ACA376721702CHAT,SLC18A3c.1004T>A (p.Phe335Tyr)
c.-69+2545T>A (n.-69+2545T>A)
10g.49611744T>CCA376721704CHAT,SLC18A3c.1004T>C (p.Phe335Ser)
c.-69+2545T>C (n.-69+2545T>C)
10g.49611744T>GCA376721706CHAT,SLC18A3c.1004T>G (p.Phe335Cys)
c.-69+2545T>G (n.-69+2545T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611744T=CA1908794578CHAT,SLC18A3c.1004T= (p.Phe335=)
c.-69+2545T= (n.-69+2545T=)
10g.49611745C>ACA376721710CHAT,SLC18A3c.1005C>A (p.Phe335Leu)
c.-69+2546C>A (n.-69+2546C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611745C=CA1908794581CHAT,SLC18A3c.1005C= (p.Phe335=)
c.-69+2546C= (n.-69+2546C=)
10g.49611745C>GCA376721712CHAT,SLC18A3c.1005C>G (p.Phe335Leu)
c.-69+2546C>G (n.-69+2546C>G)
10g.49611745C>TCA5496883CHAT,SLC18A3c.1005C>T (p.Phe335=)
c.-69+2546C>T (n.-69+2546C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49611746G>ACA376721717CHAT,SLC18A3c.1006G>A (p.Val336Met)
c.-69+2547G>A (n.-69+2547G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611746G>CCA206621334CHAT,SLC18A3c.1006G>C (p.Val336Leu)
c.-69+2547G>C (n.-69+2547G>C)
 dbSNP
10g.49611746G=CA1908794593CHAT,SLC18A3c.1006G= (p.Val336=)
c.-69+2547G= (n.-69+2547G=)
10g.49611746G>TCA376721721CHAT,SLC18A3c.1006G>T (p.Val336Leu)
c.-69+2547G>T (n.-69+2547G>T)
 gnomAD v4
10g.49611747T>ACA376721729CHAT,SLC18A3c.1007T>A (p.Val336Glu)
c.-69+2548T>A (n.-69+2548T>A)
10g.49611747T>CCA376721727CHAT,SLC18A3c.1007T>C (p.Val336Ala)
c.-69+2548T>C (n.-69+2548T>C)
 COSMIC
10g.49611747T>GCA376721725CHAT,SLC18A3c.1007T>G (p.Val336Gly)
c.-69+2548T>G (n.-69+2548T>G)
10g.49611748G>ACA5496884CHAT,SLC18A3c.1008G>A (p.Val336=)
c.-69+2549G>A (n.-69+2549G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611748G>CCA469791453CHAT,SLC18A3c.1008G>C (p.Val336=)
c.-69+2549G>C (n.-69+2549G>C)
10g.49611748G=CA1908794598CHAT,SLC18A3c.1008G= (p.Val336=)
c.-69+2549G= (n.-69+2549G=)
10g.49611748G>TCA469791456CHAT,SLC18A3c.1008G>T (p.Val336=)
c.-69+2549G>T (n.-69+2549G>T)
 gnomAD v4
10g.49611749C>ACA376721734CHAT,SLC18A3c.1009C>A (p.Pro337Thr)
c.-69+2550C>A (n.-69+2550C>A)
10g.49611749C>GCA376721735CHAT,SLC18A3c.1009C>G (p.Pro337Ala)
c.-69+2550C>G (n.-69+2550C>G)
10g.49611749C>TCA376721738CHAT,SLC18A3c.1009C>T (p.Pro337Ser)
c.-69+2550C>T (n.-69+2550C>T)
10g.49611750C>ACA376721741CHAT,SLC18A3c.1010C>A (p.Pro337His)
c.-69+2551C>A (n.-69+2551C>A)
10g.49611750C>GCA376721744CHAT,SLC18A3c.1010C>G (p.Pro337Arg)
c.-69+2551C>G (n.-69+2551C>G)
10g.49611750C>TCA376721746CHAT,SLC18A3c.1010C>T (p.Pro337Leu)
c.-69+2551C>T (n.-69+2551C>T)
10g.49611751delCA2549650053CHAT,SLC18A3c.1011del (p.His338MetfsTer29)
c.-69+2552del (n.-69+2552del)
10g.49611751T>ACA469791462CHAT,SLC18A3c.1011T>A (p.Pro337=)
c.-69+2552T>A (n.-69+2552T>A)
10g.49611751T>CCA469791464CHAT,SLC18A3c.1011T>C (p.Pro337=)
c.-69+2552T>C (n.-69+2552T>C)
10g.49611751T>GCA469791460CHAT,SLC18A3c.1011T>G (p.Pro337=)
c.-69+2552T>G (n.-69+2552T>G)
10g.49611752C>ACA376721753CHAT,SLC18A3c.1012C>A (p.His338Asn)
c.-69+2553C>A (n.-69+2553C>A)
 gnomAD v4
10g.49611752C>GCA376721749CHAT,SLC18A3c.1012C>G (p.His338Asp)
c.-69+2553C>G (n.-69+2553C>G)
10g.49611752C>TCA376721751CHAT,SLC18A3c.1012C>T (p.His338Tyr)
c.-69+2553C>T (n.-69+2553C>T)
10g.49611753A>CCA376721756CHAT,SLC18A3c.1013A>C (p.His338Pro)
c.-69+2554A>C (n.-69+2554A>C)
 gnomAD v4
10g.49611753A>GCA376721758CHAT,SLC18A3c.1013A>G (p.His338Arg)
c.-69+2554A>G (n.-69+2554A>G)
10g.49611753A>TCA376721760CHAT,SLC18A3c.1013A>T (p.His338Leu)
c.-69+2554A>T (n.-69+2554A>T)
10g.49611754T>ACA376721763CHAT,SLC18A3c.1014T>A (p.His338Gln)
c.-69+2555T>A (n.-69+2555T>A)
10g.49611754T>CCA469791469CHAT,SLC18A3c.1014T>C (p.His338=)
c.-69+2555T>C (n.-69+2555T>C)
10g.49611754T>GCA376721765CHAT,SLC18A3c.1014T>G (p.His338Gln)
c.-69+2555T>G (n.-69+2555T>G)
10g.49611755G>ACA376721769CHAT,SLC18A3c.1015G>A (p.Val339Met)
c.-69+2556G>A (n.-69+2556G>A)
 gnomAD v4
10g.49611755G>CCA376721773CHAT,SLC18A3c.1015G>C (p.Val339Leu)
c.-69+2556G>C (n.-69+2556G>C)
 dbSNP gnomAD v2
10g.49611755G=CA1908794601CHAT,SLC18A3c.1015G= (p.Val339=)
c.-69+2556G= (n.-69+2556G=)
10g.49611755G>TCA376721771CHAT,SLC18A3c.1015G>T (p.Val339Leu)
c.-69+2556G>T (n.-69+2556G>T)
10g.49611756T>ACA376721776CHAT,SLC18A3c.1016T>A (p.Val339Glu)
c.-69+2557T>A (n.-69+2557T>A)
10g.49611756T>CCA376721778CHAT,SLC18A3c.1016T>C (p.Val339Ala)
c.-69+2557T>C (n.-69+2557T>C)
 dbSNP
10g.49611756T>GCA376721781CHAT,SLC18A3c.1016T>G (p.Val339Gly)
c.-69+2557T>G (n.-69+2557T>G)
10g.49611756T=CA1908794606CHAT,SLC18A3c.1016T= (p.Val339=)
c.-69+2557T= (n.-69+2557T=)
10g.49611757G>ACA469791479CHAT,SLC18A3c.1017G>A (p.Val339=)
c.-69+2558G>A (n.-69+2558G>A)
 gnomAD v4
10g.49611757G>CCA469791478CHAT,SLC18A3c.1017G>C (p.Val339=)
c.-69+2558G>C (n.-69+2558G>C)
10g.49611757G=CA1908794611CHAT,SLC18A3c.1017G= (p.Val339=)
c.-69+2558G= (n.-69+2558G=)
10g.49611757G>TCA469791477CHAT,SLC18A3c.1017G>T (p.Val339=)
c.-69+2558G>T (n.-69+2558G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611758C>ACA376721784CHAT,SLC18A3c.1018C>A (p.Leu340Met)
c.-69+2559C>A (n.-69+2559C>A)
 gnomAD v4
10g.49611758C>GCA376721786CHAT,SLC18A3c.1018C>G (p.Leu340Val)
c.-69+2559C>G (n.-69+2559C>G)
10g.49611758C>TCA469791480CHAT,SLC18A3c.1018C>T (p.Leu340=)
c.-69+2559C>T (n.-69+2559C>T)
10g.49611759T>ACA376721790CHAT,SLC18A3c.1019T>A (p.Leu340Gln)
c.-69+2560T>A (n.-69+2560T>A)
10g.49611759T>CCA376721791CHAT,SLC18A3c.1019T>C (p.Leu340Pro)
c.-69+2560T>C (n.-69+2560T>C)
10g.49611759T>GCA376721794CHAT,SLC18A3c.1019T>G (p.Leu340Arg)
c.-69+2560T>G (n.-69+2560T>G)
10g.49611759_49611761delinsTGGCA1908794616CHAT,SLC18A3c.1019_1021delinsTGG (p.Leu340=)
c.-69+2560_-69+2562delinsTGG (n.-69+2560_-69+2562delinsTGG)
10g.49611760G>ACA469791485CHAT,SLC18A3c.1020G>A (p.Leu340=)
c.-69+2561G>A (n.-69+2561G>A)
10g.49611760G>CCA469791487CHAT,SLC18A3c.1020G>C (p.Leu340=)
c.-69+2561G>C (n.-69+2561G>C)
10g.49611760G>TCA469791486CHAT,SLC18A3c.1020G>T (p.Leu340=)
c.-69+2561G>T (n.-69+2561G>T)
10g.49611761_49611762delCA5496885CHAT,SLC18A3c.1021_1022del (p.Gly341ArgfsTer?)
c.-69+2562_-69+2563del (n.-69+2562_-69+2563del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611761G>ACA376721800CHAT,SLC18A3c.1021G>A (p.Gly341Ser)
c.-69+2562G>A (n.-69+2562G>A)
10g.49611761G>CCA376721802CHAT,SLC18A3c.1021G>C (p.Gly341Arg)
c.-69+2562G>C (n.-69+2562G>C)
10g.49611761G=CA1908794623CHAT,SLC18A3c.1021G= (p.Gly341=)
c.-69+2562G= (n.-69+2562G=)
10g.49611761G>TCA376721804CHAT,SLC18A3c.1021G>T (p.Gly341Cys)
c.-69+2562G>T (n.-69+2562G>T)
10g.49611761_49611762insACCTCATCA5496886CHAT,SLC18A3c.1021_1022insACCTCAT (p.Gly341AspfsTer?)
c.-69+2562_-69+2563insACCTCAT (n.-69+2562_-69+2563insACCTCAT)
 dbSNP ExAC gnomAD v2
10g.49611762G>ACA376721812CHAT,SLC18A3c.1022G>A (p.Gly341Asp)
c.-69+2563G>A (n.-69+2563G>A)
 dbSNP
10g.49611762G>CCA376721814CHAT,SLC18A3c.1022G>C (p.Gly341Ala)
c.-69+2563G>C (n.-69+2563G>C)
10g.49611762G=CA1908794629CHAT,SLC18A3c.1022G= (p.Gly341=)
c.-69+2563G= (n.-69+2563G=)
10g.49611762G>TCA376721808CHAT,SLC18A3c.1022G>T (p.Gly341Val)
c.-69+2563G>T (n.-69+2563G>T)
10g.49611763C>ACA469791490CHAT,SLC18A3c.1023C>A (p.Gly341=)
c.-69+2564C>A (n.-69+2564C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611763C=CA1908794635CHAT,SLC18A3c.1023C= (p.Gly341=)
c.-69+2564C= (n.-69+2564C=)
10g.49611763C>GCA469791491CHAT,SLC18A3c.1023C>G (p.Gly341=)
c.-69+2564C>G (n.-69+2564C>G)
10g.49611763C>TCA469791488CHAT,SLC18A3c.1023C>T (p.Gly341=)
c.-69+2564C>T (n.-69+2564C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611764G>ACA376721820CHAT,SLC18A3c.1024G>A (p.Val342Ile)
c.-69+2565G>A (n.-69+2565G>A)
 gnomAD v4 COSMIC
10g.49611764G>CCA376721816CHAT,SLC18A3c.1024G>C (p.Val342Leu)
c.-69+2565G>C (n.-69+2565G>C)
10g.49611764G>TCA376721817CHAT,SLC18A3c.1024G>T (p.Val342Phe)
c.-69+2565G>T (n.-69+2565G>T)
10g.49611764_49611765insAAAAACCA2787933826CHAT,SLC18A3c.1024_1025insAAAAAC (p.Val342delinsGluLysLeu)
c.-69+2565_-69+2566insAAAAAC (n.-69+2565_-69+2566insAAAAAC)
10g.49611765T>ACA376721823CHAT,SLC18A3c.1025T>A (p.Val342Asp)
c.-69+2566T>A (n.-69+2566T>A)
10g.49611765T>CCA376721826CHAT,SLC18A3c.1025T>C (p.Val342Ala)
c.-69+2566T>C (n.-69+2566T>C)
10g.49611765T>GCA376721828CHAT,SLC18A3c.1025T>G (p.Val342Gly)
c.-69+2566T>G (n.-69+2566T>G)
10g.49611766C>ACA469791496CHAT,SLC18A3c.1026C>A (p.Val342=)
c.-69+2567C>A (n.-69+2567C>A)
10g.49611766C>GCA469791495CHAT,SLC18A3c.1026C>G (p.Val342=)
c.-69+2567C>G (n.-69+2567C>G)
 COSMIC
10g.49611766C>TCA469791494CHAT,SLC18A3c.1026C>T (p.Val342=)
c.-69+2567C>T (n.-69+2567C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611767T>ACA376721832CHAT,SLC18A3c.1027T>A (p.Tyr343Asn)
c.-69+2568T>A (n.-69+2568T>A)
10g.49611767T>CCA376721834CHAT,SLC18A3c.1027T>C (p.Tyr343His)
c.-69+2568T>C (n.-69+2568T>C)
10g.49611767T>GCA376721836CHAT,SLC18A3c.1027T>G (p.Tyr343Asp)
c.-69+2568T>G (n.-69+2568T>G)
10g.49611768A=CA1908794639CHAT,SLC18A3c.1028A= (p.Tyr343=)
c.-69+2569A= (n.-69+2569A=)
10g.49611768A>CCA376721840CHAT,SLC18A3c.1028A>C (p.Tyr343Ser)
c.-69+2569A>C (n.-69+2569A>C)
 dbSNP
10g.49611768A>GCA376721842CHAT,SLC18A3c.1028A>G (p.Tyr343Cys)
c.-69+2569A>G (n.-69+2569A>G)
10g.49611768A>TCA376721845CHAT,SLC18A3c.1028A>T (p.Tyr343Phe)
c.-69+2569A>T (n.-69+2569A>T)
10g.49611769C>ACA376721847CHAT,SLC18A3c.1029C>A (p.Tyr343Ter)
c.-69+2570C>A (n.-69+2570C>A)
10g.49611769C=CA1908794644CHAT,SLC18A3c.1029C= (p.Tyr343=)
c.-69+2570C= (n.-69+2570C=)
10g.49611769C>GCA376721849CHAT,SLC18A3c.1029C>G (p.Tyr343Ter)
c.-69+2570C>G (n.-69+2570C>G)
10g.49611769C>TCA469791499CHAT,SLC18A3c.1029C>T (p.Tyr343=)
c.-69+2570C>T (n.-69+2570C>T)
 dbSNP gnomAD v4
10g.49611770C>ACA376721853CHAT,SLC18A3c.1030C>A (p.Leu344Ile)
c.-69+2571C>A (n.-69+2571C>A)
10g.49611770C=CA1908794648CHAT,SLC18A3c.1030C= (p.Leu344=)
c.-69+2571C= (n.-69+2571C=)
10g.49611770C>GCA5496887CHAT,SLC18A3c.1030C>G (p.Leu344Val)
c.-69+2571C>G (n.-69+2571C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611770C>TCA376721854CHAT,SLC18A3c.1030C>T (p.Leu344Phe)
c.-69+2571C>T (n.-69+2571C>T)
 gnomAD v4
10g.49611771T>ACA376721858CHAT,SLC18A3c.1031T>A (p.Leu344His)
c.-69+2572T>A (n.-69+2572T>A)
10g.49611771T>CCA376721860CHAT,SLC18A3c.1031T>C (p.Leu344Pro)
c.-69+2572T>C (n.-69+2572T>C)
10g.49611771T>GCA376721862CHAT,SLC18A3c.1031T>G (p.Leu344Arg)
c.-69+2572T>G (n.-69+2572T>G)
10g.49611772C>ACA469791505CHAT,SLC18A3c.1032C>A (p.Leu344=)
c.-69+2573C>A (n.-69+2573C>A)
10g.49611772C=CA1908794653CHAT,SLC18A3c.1032C= (p.Leu344=)
c.-69+2573C= (n.-69+2573C=)
10g.49611772C>GCA469791506CHAT,SLC18A3c.1032C>G (p.Leu344=)
c.-69+2573C>G (n.-69+2573C>G)
10g.49611772C>TCA206621341CHAT,SLC18A3c.1032C>T (p.Leu344=)
c.-69+2573C>T (n.-69+2573C>T)
 dbSNP gnomAD v4
10g.49611773A=CA1908794658CHAT,SLC18A3c.1033A= (p.Thr345=)
c.-69+2574A= (n.-69+2574A=)
10g.49611773A>CCA376721865CHAT,SLC18A3c.1033A>C (p.Thr345Pro)
c.-69+2574A>C (n.-69+2574A>C)
 dbSNP
10g.49611773A>GCA376721867CHAT,SLC18A3c.1033A>G (p.Thr345Ala)
c.-69+2574A>G (n.-69+2574A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611773A>TCA376721869CHAT,SLC18A3c.1033A>T (p.Thr345Ser)
c.-69+2574A>T (n.-69+2574A>T)
10g.49611774C>ACA376721871CHAT,SLC18A3c.1034C>A (p.Thr345Asn)
c.-69+2575C>A (n.-69+2575C>A)
10g.49611774C=CA1908794665CHAT,SLC18A3c.1034C= (p.Thr345=)
c.-69+2575C= (n.-69+2575C=)
10g.49611774C>GCA5496888CHAT,SLC18A3c.1034C>G (p.Thr345Ser)
c.-69+2575C>G (n.-69+2575C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611774C>TCA376721874CHAT,SLC18A3c.1034C>T (p.Thr345Ile)
c.-69+2575C>T (n.-69+2575C>T)
 ClinVar dbSNP gnomAD v4
10g.49611775C>ACA469791515CHAT,SLC18A3c.1035C>A (p.Thr345=)
c.-69+2576C>A (n.-69+2576C>A)
 gnomAD v4
10g.49611775C=CA1908794673CHAT,SLC18A3c.1035C= (p.Thr345=)
c.-69+2576C= (n.-69+2576C=)
10g.49611775C>GCA5496889CHAT,SLC18A3c.1035C>G (p.Thr345=)
c.-69+2576C>G (n.-69+2576C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611775C>TCA469791514CHAT,SLC18A3c.1035C>T (p.Thr345=)
c.-69+2576C>T (n.-69+2576C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611776G>ACA376721880CHAT,SLC18A3c.1036G>A (p.Val346Met)
c.-69+2577G>A (n.-69+2577G>A)
10g.49611776G>CCA376721881CHAT,SLC18A3c.1036G>C (p.Val346Leu)
c.-69+2577G>C (n.-69+2577G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611776G=CA1908794680CHAT,SLC18A3c.1036G= (p.Val346=)
c.-69+2577G= (n.-69+2577G=)
10g.49611776G>TCA376721878CHAT,SLC18A3c.1036G>T (p.Val346Leu)
c.-69+2577G>T (n.-69+2577G>T)
10g.49611777T>ACA376721884CHAT,SLC18A3c.1037T>A (p.Val346Glu)
c.-69+2578T>A (n.-69+2578T>A)
10g.49611777T>CCA5496890CHAT,SLC18A3c.1037T>C (p.Val346Ala)
c.-69+2578T>C (n.-69+2578T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611777T>GCA376721887CHAT,SLC18A3c.1037T>G (p.Val346Gly)
c.-69+2578T>G (n.-69+2578T>G)
10g.49611777T=CA1908794686CHAT,SLC18A3c.1037T= (p.Val346=)
c.-69+2578T= (n.-69+2578T=)
10g.49611778G>ACA469791523CHAT,SLC18A3c.1038G>A (p.Val346=)
c.-69+2579G>A (n.-69+2579G>A)
10g.49611778G>CCA469791525CHAT,SLC18A3c.1038G>C (p.Val346=)
c.-69+2579G>C (n.-69+2579G>C)
10g.49611778G>TCA469791524CHAT,SLC18A3c.1038G>T (p.Val346=)
c.-69+2579G>T (n.-69+2579G>T)
10g.49611779C>ACA376721890CHAT,SLC18A3c.1039C>A (p.Arg347Ser)
c.-69+2580C>A (n.-69+2580C>A)
 gnomAD v4
10g.49611779C>GCA376721892CHAT,SLC18A3c.1039C>G (p.Arg347Gly)
c.-69+2580C>G (n.-69+2580C>G)
10g.49611779C>TCA376721893CHAT,SLC18A3c.1039C>T (p.Arg347Cys)
c.-69+2580C>T (n.-69+2580C>T)
 gnomAD v4
10g.49611780G>ACA376721900CHAT,SLC18A3c.1040G>A (p.Arg347His)
c.-69+2581G>A (n.-69+2581G>A)
 gnomAD v4 COSMIC
10g.49611780G>CCA376721896CHAT,SLC18A3c.1040G>C (p.Arg347Pro)
c.-69+2581G>C (n.-69+2581G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611780G=CA1908794691CHAT,SLC18A3c.1040G= (p.Arg347=)
c.-69+2581G= (n.-69+2581G=)
10g.49611780G>TCA206621352CHAT,SLC18A3c.1040G>T (p.Arg347Leu)
c.-69+2581G>T (n.-69+2581G>T)
 ClinVar dbSNP gnomAD v4
10g.49611781C>ACA469791530CHAT,SLC18A3c.1041C>A (p.Arg347=)
c.-69+2582C>A (n.-69+2582C>A)
10g.49611781C>GCA469791529CHAT,SLC18A3c.1041C>G (p.Arg347=)
c.-69+2582C>G (n.-69+2582C>G)
10g.49611781C>TCA469791531CHAT,SLC18A3c.1041C>T (p.Arg347=)
c.-69+2582C>T (n.-69+2582C>T)
 gnomAD v4
10g.49611782C>ACA376721902CHAT,SLC18A3c.1042C>A (p.Leu348Met)
c.-69+2583C>A (n.-69+2583C>A)
10g.49611782C=CA1908794697CHAT,SLC18A3c.1042C= (p.Leu348=)
c.-69+2583C= (n.-69+2583C=)
10g.49611782C>GCA376721904CHAT,SLC18A3c.1042C>G (p.Leu348Val)
c.-69+2583C>G (n.-69+2583C>G)
10g.49611782C>TCA469791533CHAT,SLC18A3c.1042C>T (p.Leu348=)
c.-69+2583C>T (n.-69+2583C>T)
 dbSNP gnomAD v2
10g.49611782_49611783insGCA2609116959CHAT,SLC18A3c.1042_1043insG (p.Leu348ArgfsTer?)
c.-69+2583_-69+2584insG (n.-69+2583_-69+2584insG)
 gnomAD v4
10g.49611783T>ACA376721905CHAT,SLC18A3c.1043T>A (p.Leu348Gln)
c.-69+2584T>A (n.-69+2584T>A)
10g.49611783T>CCA376721907CHAT,SLC18A3c.1043T>C (p.Leu348Pro)
c.-69+2584T>C (n.-69+2584T>C)
10g.49611783T>GCA376721909CHAT,SLC18A3c.1043T>G (p.Leu348Arg)
c.-69+2584T>G (n.-69+2584T>G)

Number of alleles fetched