Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.49611606C>ACA376721065CHAT,SLC18A3c.866C>A (p.Pro289His)
c.-69+2407C>A (n.-69+2407C>A)
 ClinVar dbSNP
10g.49611606C>GCA376721066CHAT,SLC18A3c.866C>G (p.Pro289Arg)
c.-69+2407C>G (n.-69+2407C>G)
10g.49611606C>TCA376721067CHAT,SLC18A3c.866C>T (p.Pro289Leu)
c.-69+2407C>T (n.-69+2407C>T)
 ClinVar
10g.49611607C>ACA469791225CHAT,SLC18A3c.867C>A (p.Pro289=)
c.-69+2408C>A (n.-69+2408C>A)
10g.49611607C=CA1908794286CHAT,SLC18A3c.867C= (p.Pro289=)
c.-69+2408C= (n.-69+2408C=)
10g.49611607C>GCA469791226CHAT,SLC18A3c.867C>G (p.Pro289=)
c.-69+2408C>G (n.-69+2408C>G)
10g.49611607C>TCA5496858CHAT,SLC18A3c.867C>T (p.Pro289=)
c.-69+2408C>T (n.-69+2408C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611608T>ACA376721070CHAT,SLC18A3c.868T>A (p.Tyr290Asn)
c.-69+2409T>A (n.-69+2409T>A)
10g.49611608T>CCA376721069CHAT,SLC18A3c.868T>C (p.Tyr290His)
c.-69+2409T>C (n.-69+2409T>C)
10g.49611608T>GCA376721068CHAT,SLC18A3c.868T>G (p.Tyr290Asp)
c.-69+2409T>G (n.-69+2409T>G)
10g.49611609A=CA1908794290CHAT,SLC18A3c.869A= (p.Tyr290=)
c.-69+2410A= (n.-69+2410A=)
10g.49611609A>CCA376721071CHAT,SLC18A3c.869A>C (p.Tyr290Ser)
c.-69+2410A>C (n.-69+2410A>C)
10g.49611609A>GCA5496859CHAT,SLC18A3c.869A>G (p.Tyr290Cys)
c.-69+2410A>G (n.-69+2410A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611609A>TCA376721072CHAT,SLC18A3c.869A>T (p.Tyr290Phe)
c.-69+2410A>T (n.-69+2410A>T)
10g.49611610C>ACA376721073CHAT,SLC18A3c.870C>A (p.Tyr290Ter)
c.-69+2411C>A (n.-69+2411C>A)
10g.49611610C=CA1908794295CHAT,SLC18A3c.870C= (p.Tyr290=)
c.-69+2411C= (n.-69+2411C=)
10g.49611610C>GCA376721074CHAT,SLC18A3c.870C>G (p.Tyr290Ter)
c.-69+2411C>G (n.-69+2411C>G)
10g.49611610C>TCA5496860CHAT,SLC18A3c.870C>T (p.Tyr290=)
c.-69+2411C>T (n.-69+2411C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611611A=CA1908794299CHAT,SLC18A3c.871A= (p.Ile291=)
c.-69+2412A= (n.-69+2412A=)
10g.49611611A>CCA376721077CHAT,SLC18A3c.871A>C (p.Ile291Leu)
c.-69+2412A>C (n.-69+2412A>C)
10g.49611611A>GCA376721075CHAT,SLC18A3c.871A>G (p.Ile291Val)
c.-69+2412A>G (n.-69+2412A>G)
 gnomAD v4
10g.49611611A>TCA376721076CHAT,SLC18A3c.871A>T (p.Ile291Phe)
c.-69+2412A>T (n.-69+2412A>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611612T>ACA206621267CHAT,SLC18A3c.872T>A (p.Ile291Asn)
c.-69+2413T>A (n.-69+2413T>A)
 dbSNP
10g.49611612T>CCA376721078CHAT,SLC18A3c.872T>C (p.Ile291Thr)
c.-69+2413T>C (n.-69+2413T>C)
10g.49611612T>GCA376721079CHAT,SLC18A3c.872T>G (p.Ile291Ser)
c.-69+2413T>G (n.-69+2413T>G)
10g.49611612T=CA1908794302CHAT,SLC18A3c.872T= (p.Ile291=)
c.-69+2413T= (n.-69+2413T=)
10g.49611613T>ACA469791230CHAT,SLC18A3c.873T>A (p.Ile291=)
c.-69+2414T>A (n.-69+2414T>A)
10g.49611613T>CCA469791231CHAT,SLC18A3c.873T>C (p.Ile291=)
c.-69+2414T>C (n.-69+2414T>C)
10g.49611613T>GCA376721080CHAT,SLC18A3c.873T>G (p.Ile291Met)
c.-69+2414T>G (n.-69+2414T>G)
10g.49611614G>ACA376721081CHAT,SLC18A3c.874G>A (p.Ala292Thr)
c.-69+2415G>A (n.-69+2415G>A)
10g.49611614G>CCA376721082CHAT,SLC18A3c.874G>C (p.Ala292Pro)
c.-69+2415G>C (n.-69+2415G>C)
10g.49611614G>TCA376721083CHAT,SLC18A3c.874G>T (p.Ala292Ser)
c.-69+2415G>T (n.-69+2415G>T)
 gnomAD v4
10g.49611615C>ACA376721084CHAT,SLC18A3c.875C>A (p.Ala292Asp)
c.-69+2416C>A (n.-69+2416C>A)
10g.49611615C>GCA376721085CHAT,SLC18A3c.875C>G (p.Ala292Gly)
c.-69+2416C>G (n.-69+2416C>G)
10g.49611615C>TCA376721086CHAT,SLC18A3c.875C>T (p.Ala292Val)
c.-69+2416C>T (n.-69+2416C>T)
 gnomAD v4
10g.49611616C>ACA469791235CHAT,SLC18A3c.876C>A (p.Ala292=)
c.-69+2417C>A (n.-69+2417C>A)
10g.49611616C=CA1908794306CHAT,SLC18A3c.876C= (p.Ala292=)
c.-69+2417C= (n.-69+2417C=)
10g.49611616C>GCA469791234CHAT,SLC18A3c.876C>G (p.Ala292=)
c.-69+2417C>G (n.-69+2417C>G)
 dbSNP
10g.49611616C>TCA469791236CHAT,SLC18A3c.876C>T (p.Ala292=)
c.-69+2417C>T (n.-69+2417C>T)
 dbSNP gnomAD v4 COSMIC
10g.49611617G>ACA5496861CHAT,SLC18A3c.877G>A (p.Val293Met)
c.-69+2418G>A (n.-69+2418G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611617G>CCA376721087CHAT,SLC18A3c.877G>C (p.Val293Leu)
c.-69+2418G>C (n.-69+2418G>C)
10g.49611617G=CA1908794309CHAT,SLC18A3c.877G= (p.Val293=)
c.-69+2418G= (n.-69+2418G=)
10g.49611617G>TCA376721088CHAT,SLC18A3c.877G>T (p.Val293Leu)
c.-69+2418G>T (n.-69+2418G>T)
10g.49611618T>ACA376721089CHAT,SLC18A3c.878T>A (p.Val293Glu)
c.-69+2419T>A (n.-69+2419T>A)
10g.49611618T>CCA376721091CHAT,SLC18A3c.878T>C (p.Val293Ala)
c.-69+2419T>C (n.-69+2419T>C)
 gnomAD v4
10g.49611618T>GCA376721090CHAT,SLC18A3c.878T>G (p.Val293Gly)
c.-69+2419T>G (n.-69+2419T>G)
10g.49611619G>ACA469791237CHAT,SLC18A3c.879G>A (p.Val293=)
c.-69+2420G>A (n.-69+2420G>A)
10g.49611619G>CCA5496862CHAT,SLC18A3c.879G>C (p.Val293=)
c.-69+2420G>C (n.-69+2420G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611619G=CA1908794313CHAT,SLC18A3c.879G= (p.Val293=)
c.-69+2420G= (n.-69+2420G=)
10g.49611619G>TCA469791238CHAT,SLC18A3c.879G>T (p.Val293=)
c.-69+2420G>T (n.-69+2420G>T)
 gnomAD v4
10g.49611619_49611623delCA2573145178CHAT,SLC18A3c.879_883del (p.Val294ArgfsTer7)
c.-69+2420_-69+2424del (n.-69+2420_-69+2424del)
 ClinVar dbSNP
10g.49611620G>ACA376721092CHAT,SLC18A3c.880G>A (p.Val294Met)
c.-69+2421G>A (n.-69+2421G>A)
10g.49611620G>CCA376721093CHAT,SLC18A3c.880G>C (p.Val294Leu)
c.-69+2421G>C (n.-69+2421G>C)
10g.49611620G=CA1908794316CHAT,SLC18A3c.880G= (p.Val294=)
c.-69+2421G= (n.-69+2421G=)
10g.49611620G>TCA376721094CHAT,SLC18A3c.880G>T (p.Val294Leu)
c.-69+2421G>T (n.-69+2421G>T)
 dbSNP gnomAD v2
10g.49611621T>ACA376721095CHAT,SLC18A3c.881T>A (p.Val294Glu)
c.-69+2422T>A (n.-69+2422T>A)
10g.49611621T>CCA376721096CHAT,SLC18A3c.881T>C (p.Val294Ala)
c.-69+2422T>C (n.-69+2422T>C)
10g.49611621T>GCA376721097CHAT,SLC18A3c.881T>G (p.Val294Gly)
c.-69+2422T>G (n.-69+2422T>G)
10g.49611622G>ACA469791244CHAT,SLC18A3c.882G>A (p.Val294=)
c.-69+2423G>A (n.-69+2423G>A)
 dbSNP gnomAD v2
10g.49611622G>CCA469791242CHAT,SLC18A3c.882G>C (p.Val294=)
c.-69+2423G>C (n.-69+2423G>C)
10g.49611622G=CA1908794326CHAT,SLC18A3c.882G= (p.Val294=)
c.-69+2423G= (n.-69+2423G=)
10g.49611622G>TCA469791243CHAT,SLC18A3c.882G>T (p.Val294=)
c.-69+2423G>T (n.-69+2423G>T)
 gnomAD v4
10g.49611623G>ACA376721098CHAT,SLC18A3c.883G>A (p.Ala295Thr)
c.-69+2424G>A (n.-69+2424G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611623G>CCA376721099CHAT,SLC18A3c.883G>C (p.Ala295Pro)
c.-69+2424G>C (n.-69+2424G>C)
10g.49611623G=CA1908794332CHAT,SLC18A3c.883G= (p.Ala295=)
c.-69+2424G= (n.-69+2424G=)
10g.49611623G>TCA376721100CHAT,SLC18A3c.883G>T (p.Ala295Ser)
c.-69+2424G>T (n.-69+2424G>T)
 gnomAD v4
10g.49611624C>ACA376721101CHAT,SLC18A3c.884C>A (p.Ala295Asp)
c.-69+2425C>A (n.-69+2425C>A)
10g.49611624C>GCA376721102CHAT,SLC18A3c.884C>G (p.Ala295Gly)
c.-69+2425C>G (n.-69+2425C>G)
 gnomAD v4
10g.49611624C>TCA376721103CHAT,SLC18A3c.884C>T (p.Ala295Val)
c.-69+2425C>T (n.-69+2425C>T)
 gnomAD v4
10g.49611625C>ACA469791246CHAT,SLC18A3c.885C>A (p.Ala295=)
c.-69+2426C>A (n.-69+2426C>A)
10g.49611625C=CA1908794342CHAT,SLC18A3c.885C= (p.Ala295=)
c.-69+2426C= (n.-69+2426C=)
10g.49611625C>GCA469791245CHAT,SLC18A3c.885C>G (p.Ala295=)
c.-69+2426C>G (n.-69+2426C>G)
10g.49611625C>TCA469791247CHAT,SLC18A3c.885C>T (p.Ala295=)
c.-69+2426C>T (n.-69+2426C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611626G>ACA376721106CHAT,SLC18A3c.886G>A (p.Gly296Ser)
c.-69+2427G>A (n.-69+2427G>A)
10g.49611626G>CCA376721104CHAT,SLC18A3c.886G>C (p.Gly296Arg)
c.-69+2427G>C (n.-69+2427G>C)
10g.49611626G>TCA376721105CHAT,SLC18A3c.886G>T (p.Gly296Cys)
c.-69+2427G>T (n.-69+2427G>T)
 gnomAD v4 COSMIC
10g.49611627G>ACA376721107CHAT,SLC18A3c.887G>A (p.Gly296Asp)
c.-69+2428G>A (n.-69+2428G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611627G>CCA376721108CHAT,SLC18A3c.887G>C (p.Gly296Ala)
c.-69+2428G>C (n.-69+2428G>C)
10g.49611627G=CA1908794345CHAT,SLC18A3c.887G= (p.Gly296=)
c.-69+2428G= (n.-69+2428G=)
10g.49611627G>TCA376721109CHAT,SLC18A3c.887G>T (p.Gly296Val)
c.-69+2428G>T (n.-69+2428G>T)
 gnomAD v4
10g.49611628C>ACA469791249CHAT,SLC18A3c.888C>A (p.Gly296=)
c.-69+2429C>A (n.-69+2429C>A)
 gnomAD v4
10g.49611628C=CA1908794347CHAT,SLC18A3c.888C= (p.Gly296=)
c.-69+2429C= (n.-69+2429C=)
10g.49611628C>GCA469791250CHAT,SLC18A3c.888C>G (p.Gly296=)
c.-69+2429C>G (n.-69+2429C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611628C>TCA5496863CHAT,SLC18A3c.888C>T (p.Gly296=)
c.-69+2429C>T (n.-69+2429C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611629G>ACA5496864CHAT,SLC18A3c.889G>A (p.Ala297Thr)
c.-69+2430G>A (n.-69+2430G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49611629G>CCA376721110CHAT,SLC18A3c.889G>C (p.Ala297Pro)
c.-69+2430G>C (n.-69+2430G>C)
10g.49611629G=CA1908794352CHAT,SLC18A3c.889G= (p.Ala297=)
c.-69+2430G= (n.-69+2430G=)
10g.49611629G>TCA376721111CHAT,SLC18A3c.889G>T (p.Ala297Ser)
c.-69+2430G>T (n.-69+2430G>T)
 gnomAD v4
10g.49611630C>ACA376721112CHAT,SLC18A3c.890C>A (p.Ala297Glu)
c.-69+2431C>A (n.-69+2431C>A)
10g.49611630C=CA1908794359CHAT,SLC18A3c.890C= (p.Ala297=)
c.-69+2431C= (n.-69+2431C=)
10g.49611630C>GCA376721113CHAT,SLC18A3c.890C>G (p.Ala297Gly)
c.-69+2431C>G (n.-69+2431C>G)
10g.49611630C>TCA376721114CHAT,SLC18A3c.890C>T (p.Ala297Val)
c.-69+2431C>T (n.-69+2431C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611631G>ACA469791254CHAT,SLC18A3c.891G>A (p.Ala297=)
c.-69+2432G>A (n.-69+2432G>A)
 dbSNP gnomAD v4
10g.49611631G>CCA206621283CHAT,SLC18A3c.891G>C (p.Ala297=)
c.-69+2432G>C (n.-69+2432G>C)
 dbSNP
10g.49611631G=CA1908794364CHAT,SLC18A3c.891G= (p.Ala297=)
c.-69+2432G= (n.-69+2432G=)
10g.49611631G>TCA469791253CHAT,SLC18A3c.891G>T (p.Ala297=)
c.-69+2432G>T (n.-69+2432G>T)
10g.49611632C>ACA376721117CHAT,SLC18A3c.892C>A (p.Leu298Ile)
c.-69+2433C>A (n.-69+2433C>A)
10g.49611632C>GCA376721116CHAT,SLC18A3c.892C>G (p.Leu298Val)
c.-69+2433C>G (n.-69+2433C>G)
 gnomAD v4
10g.49611632C>TCA376721115CHAT,SLC18A3c.892C>T (p.Leu298Phe)
c.-69+2433C>T (n.-69+2433C>T)
10g.49611633T>ACA376721118CHAT,SLC18A3c.893T>A (p.Leu298His)
c.-69+2434T>A (n.-69+2434T>A)
10g.49611633T>CCA376721120CHAT,SLC18A3c.893T>C (p.Leu298Pro)
c.-69+2434T>C (n.-69+2434T>C)
 gnomAD v4
10g.49611633T>GCA376721119CHAT,SLC18A3c.893T>G (p.Leu298Arg)
c.-69+2434T>G (n.-69+2434T>G)
 gnomAD v4
10g.49611634C>ACA469791255CHAT,SLC18A3c.894C>A (p.Leu298=)
c.-69+2435C>A (n.-69+2435C>A)
10g.49611634C>GCA469791256CHAT,SLC18A3c.894C>G (p.Leu298=)
c.-69+2435C>G (n.-69+2435C>G)
10g.49611634C>TCA469791257CHAT,SLC18A3c.894C>T (p.Leu298=)
c.-69+2435C>T (n.-69+2435C>T)
 COSMIC
10g.49611635A=CA1908794368CHAT,SLC18A3c.895A= (p.Thr299=)
c.-69+2436A= (n.-69+2436A=)
10g.49611635A>CCA376721121CHAT,SLC18A3c.895A>C (p.Thr299Pro)
c.-69+2436A>C (n.-69+2436A>C)
 dbSNP
10g.49611635A>GCA376721122CHAT,SLC18A3c.895A>G (p.Thr299Ala)
c.-69+2436A>G (n.-69+2436A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611635A>TCA5496865CHAT,SLC18A3c.895A>T (p.Thr299Ser)
c.-69+2436A>T (n.-69+2436A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611636C>ACA376721123CHAT,SLC18A3c.896C>A (p.Thr299Asn)
c.-69+2437C>A (n.-69+2437C>A)
10g.49611636C>GCA376721124CHAT,SLC18A3c.896C>G (p.Thr299Ser)
c.-69+2437C>G (n.-69+2437C>G)
10g.49611636C>TCA376721125CHAT,SLC18A3c.896C>T (p.Thr299Ile)
c.-69+2437C>T (n.-69+2437C>T)
 dbSNP
10g.49611637C>ACA469791262CHAT,SLC18A3c.897C>A (p.Thr299=)
c.-69+2438C>A (n.-69+2438C>A)
10g.49611637C>GCA469791261CHAT,SLC18A3c.897C>G (p.Thr299=)
c.-69+2438C>G (n.-69+2438C>G)
10g.49611637C>TCA469791263CHAT,SLC18A3c.897C>T (p.Thr299=)
c.-69+2438C>T (n.-69+2438C>T)
 dbSNP gnomAD v4
10g.49611638delCA2609116541CHAT,SLC18A3c.898del (p.Thr300ProfsTer17)
c.-69+2439del (n.-69+2439del)
 gnomAD v4
10g.49611638A=CA1908794383CHAT,SLC18A3c.898A= (p.Thr300=)
c.-69+2439A= (n.-69+2439A=)
10g.49611638A>CCA376721126CHAT,SLC18A3c.898A>C (p.Thr300Pro)
c.-69+2439A>C (n.-69+2439A>C)
 dbSNP
10g.49611638A>GCA376721127CHAT,SLC18A3c.898A>G (p.Thr300Ala)
c.-69+2439A>G (n.-69+2439A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611638A>TCA376721128CHAT,SLC18A3c.898A>T (p.Thr300Ser)
c.-69+2439A>T (n.-69+2439A>T)
 dbSNP
10g.49611639C>ACA376721129CHAT,SLC18A3c.899C>A (p.Thr300Asn)
c.-69+2440C>A (n.-69+2440C>A)
10g.49611639C>GCA376721130CHAT,SLC18A3c.899C>G (p.Thr300Ser)
c.-69+2440C>G (n.-69+2440C>G)
10g.49611639C>TCA376721131CHAT,SLC18A3c.899C>T (p.Thr300Ile)
c.-69+2440C>T (n.-69+2440C>T)
 dbSNP
10g.49611640C>ACA469791267CHAT,SLC18A3c.900C>A (p.Thr300=)
c.-69+2441C>A (n.-69+2441C>A)
10g.49611640C>GCA469791266CHAT,SLC18A3c.900C>G (p.Thr300=)
c.-69+2441C>G (n.-69+2441C>G)
10g.49611640C>TCA469791265CHAT,SLC18A3c.900C>T (p.Thr300=)
c.-69+2441C>T (n.-69+2441C>T)
 dbSNP
10g.49611641T>ACA376721134CHAT,SLC18A3c.901T>A (p.Cys301Ser)
c.-69+2442T>A (n.-69+2442T>A)
 gnomAD v4 COSMIC
10g.49611641T>CCA376721132CHAT,SLC18A3c.901T>C (p.Cys301Arg)
c.-69+2442T>C (n.-69+2442T>C)
10g.49611641T>GCA376721133CHAT,SLC18A3c.901T>G (p.Cys301Gly)
c.-69+2442T>G (n.-69+2442T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611641T=CA1908794390CHAT,SLC18A3c.901T= (p.Cys301=)
c.-69+2442T= (n.-69+2442T=)
10g.49611642G>ACA376721135CHAT,SLC18A3c.902G>A (p.Cys301Tyr)
c.-69+2443G>A (n.-69+2443G>A)
 gnomAD v4
10g.49611642G>CCA376721136CHAT,SLC18A3c.902G>C (p.Cys301Ser)
c.-69+2443G>C (n.-69+2443G>C)
 gnomAD v4
10g.49611642G>TCA376721137CHAT,SLC18A3c.902G>T (p.Cys301Phe)
c.-69+2443G>T (n.-69+2443G>T)
 gnomAD v4
10g.49611643T>ACA376721138CHAT,SLC18A3c.903T>A (p.Cys301Ter)
c.-69+2444T>A (n.-69+2444T>A)
10g.49611643T>CCA5496866CHAT,SLC18A3c.903T>C (p.Cys301=)
c.-69+2444T>C (n.-69+2444T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611643T>GCA376721139CHAT,SLC18A3c.903T>G (p.Cys301Trp)
c.-69+2444T>G (n.-69+2444T>G)
10g.49611643T=CA1908794395CHAT,SLC18A3c.903T= (p.Cys301=)
c.-69+2444T= (n.-69+2444T=)
10g.49611644A>CCA376721140CHAT,SLC18A3c.904A>C (p.Asn302His)
c.-69+2445A>C (n.-69+2445A>C)
10g.49611644A>GCA376721141CHAT,SLC18A3c.904A>G (p.Asn302Asp)
c.-69+2445A>G (n.-69+2445A>G)
10g.49611644A>TCA376721142CHAT,SLC18A3c.904A>T (p.Asn302Tyr)
c.-69+2445A>T (n.-69+2445A>T)
10g.49611645A>CCA376721143CHAT,SLC18A3c.905A>C (p.Asn302Thr)
c.-69+2446A>C (n.-69+2446A>C)
10g.49611645A>GCA376721144CHAT,SLC18A3c.905A>G (p.Asn302Ser)
c.-69+2446A>G (n.-69+2446A>G)
 gnomAD v4
10g.49611645A>TCA376721145CHAT,SLC18A3c.905A>T (p.Asn302Ile)
c.-69+2446A>T (n.-69+2446A>T)
10g.49611646C>ACA376721147CHAT,SLC18A3c.906C>A (p.Asn302Lys)
c.-69+2447C>A (n.-69+2447C>A)
10g.49611646C=CA1908794401CHAT,SLC18A3c.906C= (p.Asn302=)
c.-69+2447C= (n.-69+2447C=)
10g.49611646C>GCA376721146CHAT,SLC18A3c.906C>G (p.Asn302Lys)
c.-69+2447C>G (n.-69+2447C>G)
10g.49611646C>TCA469791274CHAT,SLC18A3c.906C>T (p.Asn302=)
c.-69+2447C>T (n.-69+2447C>T)
 dbSNP gnomAD v4
10g.49611647A=CA1908794404CHAT,SLC18A3c.907A= (p.Ile303=)
c.-69+2448A= (n.-69+2448A=)
10g.49611647A>CCA376721148CHAT,SLC18A3c.907A>C (p.Ile303Leu)
c.-69+2448A>C (n.-69+2448A>C)
10g.49611647A>GCA376721149CHAT,SLC18A3c.907A>G (p.Ile303Val)
c.-69+2448A>G (n.-69+2448A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611647A>TCA376721150CHAT,SLC18A3c.907A>T (p.Ile303Phe)
c.-69+2448A>T (n.-69+2448A>T)
10g.49611648T>ACA206621290CHAT,SLC18A3c.908T>A (p.Ile303Asn)
c.-69+2449T>A (n.-69+2449T>A)
 dbSNP gnomAD v4
10g.49611648T>CCA376721151CHAT,SLC18A3c.908T>C (p.Ile303Thr)
c.-69+2449T>C (n.-69+2449T>C)
10g.49611648T>GCA376721152CHAT,SLC18A3c.908T>G (p.Ile303Ser)
c.-69+2449T>G (n.-69+2449T>G)
10g.49611648T=CA1908794408CHAT,SLC18A3c.908T= (p.Ile303=)
c.-69+2449T= (n.-69+2449T=)
10g.49611649T>ACA469791278CHAT,SLC18A3c.909T>A (p.Ile303=)
c.-69+2450T>A (n.-69+2450T>A)
 gnomAD v4
10g.49611649T>CCA469791277CHAT,SLC18A3c.909T>C (p.Ile303=)
c.-69+2450T>C (n.-69+2450T>C)
10g.49611649T>GCA376721153CHAT,SLC18A3c.909T>G (p.Ile303Met)
c.-69+2450T>G (n.-69+2450T>G)
10g.49611650C>ACA376721154CHAT,SLC18A3c.910C>A (p.Pro304Thr)
c.-69+2451C>A (n.-69+2451C>A)
 gnomAD v4
10g.49611650C=CA1908794410CHAT,SLC18A3c.910C= (p.Pro304=)
c.-69+2451C= (n.-69+2451C=)
10g.49611650C>GCA376721155CHAT,SLC18A3c.910C>G (p.Pro304Ala)
c.-69+2451C>G (n.-69+2451C>G)
10g.49611650C>TCA5496867CHAT,SLC18A3c.910C>T (p.Pro304Ser)
c.-69+2451C>T (n.-69+2451C>T)
 dbSNP ExAC
10g.49611651C>ACA376721156CHAT,SLC18A3c.911C>A (p.Pro304His)
c.-69+2452C>A (n.-69+2452C>A)
10g.49611651C>GCA376721157CHAT,SLC18A3c.911C>G (p.Pro304Arg)
c.-69+2452C>G (n.-69+2452C>G)
10g.49611651C>TCA376721158CHAT,SLC18A3c.911C>T (p.Pro304Leu)
c.-69+2452C>T (n.-69+2452C>T)
 COSMIC
10g.49611652C>ACA469791284CHAT,SLC18A3c.912C>A (p.Pro304=)
c.-69+2453C>A (n.-69+2453C>A)
10g.49611652C=CA1908794414CHAT,SLC18A3c.912C= (p.Pro304=)
c.-69+2453C= (n.-69+2453C=)
10g.49611652C>GCA469791285CHAT,SLC18A3c.912C>G (p.Pro304=)
c.-69+2453C>G (n.-69+2453C>G)
10g.49611652C>TCA5496868CHAT,SLC18A3c.912C>T (p.Pro304=)
c.-69+2453C>T (n.-69+2453C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611653C>ACA376721161CHAT,SLC18A3c.913C>A (p.Leu305Ile)
c.-69+2454C>A (n.-69+2454C>A)
10g.49611653C>GCA376721159CHAT,SLC18A3c.913C>G (p.Leu305Val)
c.-69+2454C>G (n.-69+2454C>G)
10g.49611653C>TCA376721160CHAT,SLC18A3c.913C>T (p.Leu305Phe)
c.-69+2454C>T (n.-69+2454C>T)
10g.49611654T>ACA376721162CHAT,SLC18A3c.914T>A (p.Leu305His)
c.-69+2455T>A (n.-69+2455T>A)
10g.49611654T>CCA376721163CHAT,SLC18A3c.914T>C (p.Leu305Pro)
c.-69+2455T>C (n.-69+2455T>C)
10g.49611654T>GCA376721164CHAT,SLC18A3c.914T>G (p.Leu305Arg)
c.-69+2455T>G (n.-69+2455T>G)
10g.49611655C>ACA5496869CHAT,SLC18A3c.915C>A (p.Leu305=)
c.-69+2456C>A (n.-69+2456C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611655C=CA1908794423CHAT,SLC18A3c.915C= (p.Leu305=)
c.-69+2456C= (n.-69+2456C=)
10g.49611655C>GCA469791293CHAT,SLC18A3c.915C>G (p.Leu305=)
c.-69+2456C>G (n.-69+2456C>G)
10g.49611655C>TCA469791292CHAT,SLC18A3c.915C>T (p.Leu305=)
c.-69+2456C>T (n.-69+2456C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611656G>ACA376721165CHAT,SLC18A3c.916G>A (p.Ala306Thr)
c.-69+2457G>A (n.-69+2457G>A)
 dbSNP gnomAD v4
10g.49611656G>CCA376721166CHAT,SLC18A3c.916G>C (p.Ala306Pro)
c.-69+2457G>C (n.-69+2457G>C)
10g.49611656G=CA1908794439CHAT,SLC18A3c.916G= (p.Ala306=)
c.-69+2457G= (n.-69+2457G=)
10g.49611656G>TCA206621298CHAT,SLC18A3c.916G>T (p.Ala306Ser)
c.-69+2457G>T (n.-69+2457G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611657C>ACA376721167CHAT,SLC18A3c.917C>A (p.Ala306Asp)
c.-69+2458C>A (n.-69+2458C>A)
10g.49611657C>GCA376721172CHAT,SLC18A3c.917C>G (p.Ala306Gly)
c.-69+2458C>G (n.-69+2458C>G)
10g.49611657C>TCA376721174CHAT,SLC18A3c.917C>T (p.Ala306Val)
c.-69+2458C>T (n.-69+2458C>T)
10g.49611658C>ACA469791295CHAT,SLC18A3c.918C>A (p.Ala306=)
c.-69+2459C>A (n.-69+2459C>A)
10g.49611658C=CA1908794447CHAT,SLC18A3c.918C= (p.Ala306=)
c.-69+2459C= (n.-69+2459C=)
10g.49611658C>GCA5496871CHAT,SLC18A3c.918C>G (p.Ala306=)
c.-69+2459C>G (n.-69+2459C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611658C>TCA5496870CHAT,SLC18A3c.918C>T (p.Ala306=)
c.-69+2459C>T (n.-69+2459C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611659T>ACA376721185CHAT,SLC18A3c.919T>A (p.Phe307Ile)
c.-69+2460T>A (n.-69+2460T>A)
10g.49611659T>CCA376721189CHAT,SLC18A3c.919T>C (p.Phe307Leu)
c.-69+2460T>C (n.-69+2460T>C)
10g.49611659T>GCA376721187CHAT,SLC18A3c.919T>G (p.Phe307Val)
c.-69+2460T>G (n.-69+2460T>G)
10g.49611660T>ACA376721192CHAT,SLC18A3c.920T>A (p.Phe307Tyr)
c.-69+2461T>A (n.-69+2461T>A)
10g.49611660T>CCA376721200CHAT,SLC18A3c.920T>C (p.Phe307Ser)
c.-69+2461T>C (n.-69+2461T>C)
10g.49611660T>GCA376721202CHAT,SLC18A3c.920T>G (p.Phe307Cys)
c.-69+2461T>G (n.-69+2461T>G)
10g.49611661C>ACA376721206CHAT,SLC18A3c.921C>A (p.Phe307Leu)
c.-69+2462C>A (n.-69+2462C>A)
 gnomAD v4
10g.49611661C=CA1908794453CHAT,SLC18A3c.921C= (p.Phe307=)
c.-69+2462C= (n.-69+2462C=)
10g.49611661C>GCA376721208CHAT,SLC18A3c.921C>G (p.Phe307Leu)
c.-69+2462C>G (n.-69+2462C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611661C>TCA469791300CHAT,SLC18A3c.921C>T (p.Phe307=)
c.-69+2462C>T (n.-69+2462C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611662C>ACA376721213CHAT,SLC18A3c.922C>A (p.Leu308Ile)
c.-69+2463C>A (n.-69+2463C>A)
10g.49611662C>GCA376721216CHAT,SLC18A3c.922C>G (p.Leu308Val)
c.-69+2463C>G (n.-69+2463C>G)
10g.49611662C>TCA376721218CHAT,SLC18A3c.922C>T (p.Leu308Phe)
c.-69+2463C>T (n.-69+2463C>T)
10g.49611663T>ACA376721222CHAT,SLC18A3c.923T>A (p.Leu308His)
c.-69+2464T>A (n.-69+2464T>A)
10g.49611663T>CCA376721224CHAT,SLC18A3c.923T>C (p.Leu308Pro)
c.-69+2464T>C (n.-69+2464T>C)
10g.49611663T>GCA376721226CHAT,SLC18A3c.923T>G (p.Leu308Arg)
c.-69+2464T>G (n.-69+2464T>G)
10g.49611664C>ACA5496872CHAT,SLC18A3c.924C>A (p.Leu308=)
c.-69+2465C>A (n.-69+2465C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611664C=CA1908794460CHAT,SLC18A3c.924C= (p.Leu308=)
c.-69+2465C= (n.-69+2465C=)
10g.49611664C>GCA469791308CHAT,SLC18A3c.924C>G (p.Leu308=)
c.-69+2465C>G (n.-69+2465C>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611664C>TCA5496873CHAT,SLC18A3c.924C>T (p.Leu308=)
c.-69+2465C>T (n.-69+2465C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611665G>ACA376721238CHAT,SLC18A3c.925G>A (p.Glu309Lys)
c.-69+2466G>A (n.-69+2466G>A)
 gnomAD v4
10g.49611665G>CCA376721236CHAT,SLC18A3c.925G>C (p.Glu309Gln)
c.-69+2466G>C (n.-69+2466G>C)
10g.49611665G>TCA376721233CHAT,SLC18A3c.925G>T (p.Glu309Ter)
c.-69+2466G>T (n.-69+2466G>T)
10g.49611666A>CCA376721241CHAT,SLC18A3c.926A>C (p.Glu309Ala)
c.-69+2467A>C (n.-69+2467A>C)
10g.49611666A>GCA376721242CHAT,SLC18A3c.926A>G (p.Glu309Gly)
c.-69+2467A>G (n.-69+2467A>G)
10g.49611666A>TCA376721244CHAT,SLC18A3c.926A>T (p.Glu309Val)
c.-69+2467A>T (n.-69+2467A>T)
10g.49611667A=CA1908794468CHAT,SLC18A3c.927A= (p.Glu309=)
c.-69+2468A= (n.-69+2468A=)
10g.49611667A>CCA376721248CHAT,SLC18A3c.927A>C (p.Glu309Asp)
c.-69+2468A>C (n.-69+2468A>C)
10g.49611667A>GCA5496874CHAT,SLC18A3c.927A>G (p.Glu309=)
c.-69+2468A>G (n.-69+2468A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611667A>TCA376721251CHAT,SLC18A3c.927A>T (p.Glu309Asp)
c.-69+2468A>T (n.-69+2468A>T)

Number of alleles fetched