Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611427G>ACA469791677CHAT,SLC18A3c.687G>A (p.Pro229=)
c.-69+2228G>A (n.-69+2228G>A)
10g.49611427G>CCA469791678CHAT,SLC18A3c.687G>C (p.Pro229=)
c.-69+2228G>C (n.-69+2228G>C)
10g.49611427G=CA1908793728CHAT,SLC18A3c.687G= (p.Pro229=)
c.-69+2228G= (n.-69+2228G=)
10g.49611427G>TCA5496824CHAT,SLC18A3c.687G>T (p.Pro229=)
c.-69+2228G>T (n.-69+2228G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611428C>ACA376720237CHAT,SLC18A3c.688C>A (p.Pro230Thr)
c.-69+2229C>A (n.-69+2229C>A)
10g.49611428C>GCA376720240CHAT,SLC18A3c.688C>G (p.Pro230Ala)
c.-69+2229C>G (n.-69+2229C>G)
10g.49611428C>TCA376720243CHAT,SLC18A3c.688C>T (p.Pro230Ser)
c.-69+2229C>T (n.-69+2229C>T)
 gnomAD v4 COSMIC
10g.49611429C>ACA376720248CHAT,SLC18A3c.689C>A (p.Pro230His)
c.-69+2230C>A (n.-69+2230C>A)
10g.49611429C>GCA376720250CHAT,SLC18A3c.689C>G (p.Pro230Arg)
c.-69+2230C>G (n.-69+2230C>G)
10g.49611429C>TCA376720254CHAT,SLC18A3c.689C>T (p.Pro230Leu)
c.-69+2230C>T (n.-69+2230C>T)
10g.49611430C>ACA469791691CHAT,SLC18A3c.690C>A (p.Pro230=)
c.-69+2231C>A (n.-69+2231C>A)
10g.49611430C=CA1908793730CHAT,SLC18A3c.690C= (p.Pro230=)
c.-69+2231C= (n.-69+2231C=)
10g.49611430C>GCA469791687CHAT,SLC18A3c.690C>G (p.Pro230=)
c.-69+2231C>G (n.-69+2231C>G)
10g.49611430C>TCA469791692CHAT,SLC18A3c.690C>T (p.Pro230=)
c.-69+2231C>T (n.-69+2231C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611431T>ACA376720265CHAT,SLC18A3c.691T>A (p.Phe231Ile)
c.-69+2232T>A (n.-69+2232T>A)
10g.49611431T>CCA376720261CHAT,SLC18A3c.691T>C (p.Phe231Leu)
c.-69+2232T>C (n.-69+2232T>C)
 dbSNP gnomAD v2
10g.49611431T>GCA376720258CHAT,SLC18A3c.691T>G (p.Phe231Val)
c.-69+2232T>G (n.-69+2232T>G)
10g.49611431T=CA1908793734CHAT,SLC18A3c.691T= (p.Phe231=)
c.-69+2232T= (n.-69+2232T=)
10g.49611432T>ACA376720270CHAT,SLC18A3c.692T>A (p.Phe231Tyr)
c.-69+2233T>A (n.-69+2233T>A)
10g.49611432T>CCA376720273CHAT,SLC18A3c.692T>C (p.Phe231Ser)
c.-69+2233T>C (n.-69+2233T>C)
10g.49611432T>GCA376720276CHAT,SLC18A3c.692T>G (p.Phe231Cys)
c.-69+2233T>G (n.-69+2233T>G)
10g.49611433C>ACA376720281CHAT,SLC18A3c.693C>A (p.Phe231Leu)
c.-69+2234C>A (n.-69+2234C>A)
 dbSNP
10g.49611433C=CA1908793736CHAT,SLC18A3c.693C= (p.Phe231=)
c.-69+2234C= (n.-69+2234C=)
10g.49611433C>GCA376720282CHAT,SLC18A3c.693C>G (p.Phe231Leu)
c.-69+2234C>G (n.-69+2234C>G)
10g.49611433C>TCA469791702CHAT,SLC18A3c.693C>T (p.Phe231=)
c.-69+2234C>T (n.-69+2234C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611434G>ACA376720293CHAT,SLC18A3c.694G>A (p.Gly232Arg)
c.-69+2235G>A (n.-69+2235G>A)
 dbSNP gnomAD v4
10g.49611434G>CCA376720290CHAT,SLC18A3c.694G>C (p.Gly232Arg)
c.-69+2235G>C (n.-69+2235G>C)
10g.49611434G=CA1908793741CHAT,SLC18A3c.694G= (p.Gly232=)
c.-69+2235G= (n.-69+2235G=)
10g.49611434G>TCA376720287CHAT,SLC18A3c.694G>T (p.Gly232Trp)
c.-69+2235G>T (n.-69+2235G>T)
10g.49611438dupCA2609115948CHAT,SLC18A3c.698dup (p.Ile234HisfsTer4)
c.-69+2239dup (n.-69+2239dup)
 gnomAD v4
10g.49611438delCA2609115952CHAT,SLC18A3c.698del (p.Gly233AlafsTer16)
c.-69+2239del (n.-69+2239del)
 gnomAD v4
10g.49611435G>ACA376720297CHAT,SLC18A3c.695G>A (p.Gly232Glu)
c.-69+2236G>A (n.-69+2236G>A)
10g.49611435G>CCA376720299CHAT,SLC18A3c.695G>C (p.Gly232Ala)
c.-69+2236G>C (n.-69+2236G>C)
 gnomAD v4
10g.49611435G>TCA376720302CHAT,SLC18A3c.695G>T (p.Gly232Val)
c.-69+2236G>T (n.-69+2236G>T)
10g.49611436G>ACA469791714CHAT,SLC18A3c.696G>A (p.Gly232=)
c.-69+2237G>A (n.-69+2237G>A)
 gnomAD v4
10g.49611436G>CCA469791715CHAT,SLC18A3c.696G>C (p.Gly232=)
c.-69+2237G>C (n.-69+2237G>C)
10g.49611436G>TCA469791713CHAT,SLC18A3c.696G>T (p.Gly232=)
c.-69+2237G>T (n.-69+2237G>T)
10g.49611437G>ACA376720306CHAT,SLC18A3c.697G>A (p.Gly233Ser)
c.-69+2238G>A (n.-69+2238G>A)
10g.49611437G>CCA376720309CHAT,SLC18A3c.697G>C (p.Gly233Arg)
c.-69+2238G>C (n.-69+2238G>C)
10g.49611437G=CA1908793751CHAT,SLC18A3c.697G= (p.Gly233=)
c.-69+2238G= (n.-69+2238G=)
10g.49611437G>TCA376720311CHAT,SLC18A3c.697G>T (p.Gly233Cys)
c.-69+2238G>T (n.-69+2238G>T)
 dbSNP gnomAD v4
10g.49611441_49611461dupCA2609115962CHAT,SLC18A3c.701_721dup (p.Gly240_Lys241insIleLeuTyrGluPheAlaGly)
c.-69+2242_-69+2262dup (n.-69+2242_-69+2262dup)
 gnomAD v4
10g.49611438G>ACA206621157CHAT,SLC18A3c.698G>A (p.Gly233Asp)
c.-69+2239G>A (n.-69+2239G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611438G>CCA376720315CHAT,SLC18A3c.698G>C (p.Gly233Ala)
c.-69+2239G>C (n.-69+2239G>C)
10g.49611438G=CA1908793757CHAT,SLC18A3c.698G= (p.Gly233=)
c.-69+2239G= (n.-69+2239G=)
10g.49611438G>TCA376720319CHAT,SLC18A3c.698G>T (p.Gly233Val)
c.-69+2239G>T (n.-69+2239G>T)
 gnomAD v4
10g.49611439C>ACA469791725CHAT,SLC18A3c.699C>A (p.Gly233=)
c.-69+2240C>A (n.-69+2240C>A)
10g.49611439C>GCA469791724CHAT,SLC18A3c.699C>G (p.Gly233=)
c.-69+2240C>G (n.-69+2240C>G)
10g.49611439C>TCA469791727CHAT,SLC18A3c.699C>T (p.Gly233=)
c.-69+2240C>T (n.-69+2240C>T)
 gnomAD v4
10g.49611440A>CCA376720323CHAT,SLC18A3c.700A>C (p.Ile234Leu)
c.-69+2241A>C (n.-69+2241A>C)
10g.49611440A>GCA376720327CHAT,SLC18A3c.700A>G (p.Ile234Val)
c.-69+2241A>G (n.-69+2241A>G)
10g.49611440A>TCA376720330CHAT,SLC18A3c.700A>T (p.Ile234Phe)
c.-69+2241A>T (n.-69+2241A>T)
 gnomAD v4
10g.49611441T>ACA376720335CHAT,SLC18A3c.701T>A (p.Ile234Asn)
c.-69+2242T>A (n.-69+2242T>A)
 dbSNP
10g.49611441T>CCA376720338CHAT,SLC18A3c.701T>C (p.Ile234Thr)
c.-69+2242T>C (n.-69+2242T>C)
10g.49611441T>GCA376720342CHAT,SLC18A3c.701T>G (p.Ile234Ser)
c.-69+2242T>G (n.-69+2242T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611441T=CA1908793760CHAT,SLC18A3c.701T= (p.Ile234=)
c.-69+2242T= (n.-69+2242T=)
10g.49611442C>ACA469791736CHAT,SLC18A3c.702C>A (p.Ile234=)
c.-69+2243C>A (n.-69+2243C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611442C=CA1908793764CHAT,SLC18A3c.702C= (p.Ile234=)
c.-69+2243C= (n.-69+2243C=)
10g.49611442C>GCA376720346CHAT,SLC18A3c.702C>G (p.Ile234Met)
c.-69+2243C>G (n.-69+2243C>G)
10g.49611442C>TCA469791738CHAT,SLC18A3c.702C>T (p.Ile234=)
c.-69+2243C>T (n.-69+2243C>T)
10g.49611443C>ACA376720350CHAT,SLC18A3c.703C>A (p.Leu235Ile)
c.-69+2244C>A (n.-69+2244C>A)
10g.49611443C>GCA376720352CHAT,SLC18A3c.703C>G (p.Leu235Val)
c.-69+2244C>G (n.-69+2244C>G)
 gnomAD v4
10g.49611443C>TCA376720356CHAT,SLC18A3c.703C>T (p.Leu235Phe)
c.-69+2244C>T (n.-69+2244C>T)
10g.49611444T>ACA376720358CHAT,SLC18A3c.704T>A (p.Leu235His)
c.-69+2245T>A (n.-69+2245T>A)
 ClinVar
10g.49611444T>CCA376720361CHAT,SLC18A3c.704T>C (p.Leu235Pro)
c.-69+2245T>C (n.-69+2245T>C)
10g.49611444T>GCA376720364CHAT,SLC18A3c.704T>G (p.Leu235Arg)
c.-69+2245T>G (n.-69+2245T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611444T=CA1908793771CHAT,SLC18A3c.704T= (p.Leu235=)
c.-69+2245T= (n.-69+2245T=)
10g.49611445C>ACA469791745CHAT,SLC18A3c.705C>A (p.Leu235=)
c.-69+2246C>A (n.-69+2246C>A)
 gnomAD v4
10g.49611445C=CA1908793779CHAT,SLC18A3c.705C= (p.Leu235=)
c.-69+2246C= (n.-69+2246C=)
10g.49611445C>GCA469791744CHAT,SLC18A3c.705C>G (p.Leu235=)
c.-69+2246C>G (n.-69+2246C>G)
 gnomAD v4
10g.49611445C>TCA469791746CHAT,SLC18A3c.705C>T (p.Leu235=)
c.-69+2246C>T (n.-69+2246C>T)
 dbSNP gnomAD v2
10g.49611446T>ACA376720370CHAT,SLC18A3c.706T>A (p.Tyr236Asn)
c.-69+2247T>A (n.-69+2247T>A)
10g.49611446T>CCA376720376CHAT,SLC18A3c.706T>C (p.Tyr236His)
c.-69+2247T>C (n.-69+2247T>C)
 gnomAD v4
10g.49611446T>GCA376720374CHAT,SLC18A3c.706T>G (p.Tyr236Asp)
c.-69+2247T>G (n.-69+2247T>G)
10g.49611447_49611448delCA2609115992CHAT,SLC18A3c.707_708del (p.Tyr236Ter)
c.-69+2248_-69+2249del (n.-69+2248_-69+2249del)
 gnomAD v4
10g.49611447A=CA1908793802CHAT,SLC18A3c.707A= (p.Tyr236=)
c.-69+2248A= (n.-69+2248A=)
10g.49611447A>CCA376720383CHAT,SLC18A3c.707A>C (p.Tyr236Ser)
c.-69+2248A>C (n.-69+2248A>C)
10g.49611447A>GCA376720385CHAT,SLC18A3c.707A>G (p.Tyr236Cys)
c.-69+2248A>G (n.-69+2248A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611447A>TCA376720387CHAT,SLC18A3c.707A>T (p.Tyr236Phe)
c.-69+2248A>T (n.-69+2248A>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611448T>ACA376720391CHAT,SLC18A3c.708T>A (p.Tyr236Ter)
c.-69+2249T>A (n.-69+2249T>A)
10g.49611448T>CCA469791753CHAT,SLC18A3c.708T>C (p.Tyr236=)
c.-69+2249T>C (n.-69+2249T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611448T>GCA376720393CHAT,SLC18A3c.708T>G (p.Tyr236Ter)
c.-69+2249T>G (n.-69+2249T>G)
 dbSNP gnomAD v4
10g.49611448T=CA1908793807CHAT,SLC18A3c.708T= (p.Tyr236=)
c.-69+2249T= (n.-69+2249T=)
10g.49611449G>ACA376720398CHAT,SLC18A3c.709G>A (p.Glu237Lys)
c.-69+2250G>A (n.-69+2250G>A)
10g.49611449G>CCA376720400CHAT,SLC18A3c.709G>C (p.Glu237Gln)
c.-69+2250G>C (n.-69+2250G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611449G=CA1908793814CHAT,SLC18A3c.709G= (p.Glu237=)
c.-69+2250G= (n.-69+2250G=)
10g.49611449G>TCA376720404CHAT,SLC18A3c.709G>T (p.Glu237Ter)
c.-69+2250G>T (n.-69+2250G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611450A>CCA376720410CHAT,SLC18A3c.710A>C (p.Glu237Ala)
c.-69+2251A>C (n.-69+2251A>C)
10g.49611450A>GCA376720412CHAT,SLC18A3c.710A>G (p.Glu237Gly)
c.-69+2251A>G (n.-69+2251A>G)
10g.49611450A>TCA376720416CHAT,SLC18A3c.710A>T (p.Glu237Val)
c.-69+2251A>T (n.-69+2251A>T)
10g.49611451G>ACA469791760CHAT,SLC18A3c.711G>A (p.Glu237=)
c.-69+2252G>A (n.-69+2252G>A)
10g.49611451G>CCA376720421CHAT,SLC18A3c.711G>C (p.Glu237Asp)
c.-69+2252G>C (n.-69+2252G>C)
10g.49611451G=CA1908793823CHAT,SLC18A3c.711G= (p.Glu237=)
c.-69+2252G= (n.-69+2252G=)
10g.49611451G>TCA376720424CHAT,SLC18A3c.711G>T (p.Glu237Asp)
c.-69+2252G>T (n.-69+2252G>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611452T>ACA376720437CHAT,SLC18A3c.712T>A (p.Phe238Ile)
c.-69+2253T>A (n.-69+2253T>A)
10g.49611452T>CCA376720430CHAT,SLC18A3c.712T>C (p.Phe238Leu)
c.-69+2253T>C (n.-69+2253T>C)
10g.49611452T>GCA376720434CHAT,SLC18A3c.712T>G (p.Phe238Val)
c.-69+2253T>G (n.-69+2253T>G)
10g.49611453T>ACA376720442CHAT,SLC18A3c.713T>A (p.Phe238Tyr)
c.-69+2254T>A (n.-69+2254T>A)
10g.49611453T>CCA376720443CHAT,SLC18A3c.713T>C (p.Phe238Ser)
c.-69+2254T>C (n.-69+2254T>C)
10g.49611453T>GCA376720446CHAT,SLC18A3c.713T>G (p.Phe238Cys)
c.-69+2254T>G (n.-69+2254T>G)
10g.49611454C>ACA5496825CHAT,SLC18A3c.714C>A (p.Phe238Leu)
c.-69+2255C>A (n.-69+2255C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611454C=CA1908793826CHAT,SLC18A3c.714C= (p.Phe238=)
c.-69+2255C= (n.-69+2255C=)
10g.49611454C>GCA376720451CHAT,SLC18A3c.714C>G (p.Phe238Leu)
c.-69+2255C>G (n.-69+2255C>G)
10g.49611454C>TCA469791771CHAT,SLC18A3c.714C>T (p.Phe238=)
c.-69+2255C>T (n.-69+2255C>T)
 dbSNP gnomAD v4
10g.49611455G>ACA376720454CHAT,SLC18A3c.715G>A (p.Ala239Thr)
c.-69+2256G>A (n.-69+2256G>A)
 gnomAD v4
10g.49611455G>CCA376720456CHAT,SLC18A3c.715G>C (p.Ala239Pro)
c.-69+2256G>C (n.-69+2256G>C)
10g.49611455G=CA1908793828CHAT,SLC18A3c.715G= (p.Ala239=)
c.-69+2256G= (n.-69+2256G=)
10g.49611455G>TCA5496826CHAT,SLC18A3c.715G>T (p.Ala239Ser)
c.-69+2256G>T (n.-69+2256G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611456C>ACA376720459CHAT,SLC18A3c.716C>A (p.Ala239Asp)
c.-69+2257C>A (n.-69+2257C>A)
 gnomAD v4
10g.49611456C>GCA376720461CHAT,SLC18A3c.716C>G (p.Ala239Gly)
c.-69+2257C>G (n.-69+2257C>G)
 gnomAD v4
10g.49611456C>TCA376720463CHAT,SLC18A3c.716C>T (p.Ala239Val)
c.-69+2257C>T (n.-69+2257C>T)
 gnomAD v4
10g.49611457C>ACA469791778CHAT,SLC18A3c.717C>A (p.Ala239=)
c.-69+2258C>A (n.-69+2258C>A)
10g.49611457C=CA1908793831CHAT,SLC18A3c.717C= (p.Ala239=)
c.-69+2258C= (n.-69+2258C=)
10g.49611457C>GCA469791779CHAT,SLC18A3c.717C>G (p.Ala239=)
c.-69+2258C>G (n.-69+2258C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611457C>TCA5496827CHAT,SLC18A3c.717C>T (p.Ala239=)
c.-69+2258C>T (n.-69+2258C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611458G>ACA206621165CHAT,SLC18A3c.718G>A (p.Gly240Ser)
c.-69+2259G>A (n.-69+2259G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611458G>CCA376720468CHAT,SLC18A3c.718G>C (p.Gly240Arg)
c.-69+2259G>C (n.-69+2259G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611458G=CA1908793839CHAT,SLC18A3c.718G= (p.Gly240=)
c.-69+2259G= (n.-69+2259G=)
10g.49611458G>TCA376720466CHAT,SLC18A3c.718G>T (p.Gly240Cys)
c.-69+2259G>T (n.-69+2259G>T)
10g.49611459G>ACA376720472CHAT,SLC18A3c.719G>A (p.Gly240Asp)
c.-69+2260G>A (n.-69+2260G>A)
 gnomAD v4
10g.49611459G>CCA376720476CHAT,SLC18A3c.719G>C (p.Gly240Ala)
c.-69+2260G>C (n.-69+2260G>C)
10g.49611459G=CA1908793842CHAT,SLC18A3c.719G= (p.Gly240=)
c.-69+2260G= (n.-69+2260G=)
10g.49611459G>TCA5496828CHAT,SLC18A3c.719G>T (p.Gly240Val)
c.-69+2260G>T (n.-69+2260G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611460C>ACA469791789CHAT,SLC18A3c.720C>A (p.Gly240=)
c.-69+2261C>A (n.-69+2261C>A)
 gnomAD v4
10g.49611460C>GCA469791787CHAT,SLC18A3c.720C>G (p.Gly240=)
c.-69+2261C>G (n.-69+2261C>G)
10g.49611460C>TCA469791786CHAT,SLC18A3c.720C>T (p.Gly240=)
c.-69+2261C>T (n.-69+2261C>T)
10g.49611461A=CA1908793844CHAT,SLC18A3c.721A= (p.Lys241=)
c.-69+2262A= (n.-69+2262A=)
10g.49611461A>CCA376720478CHAT,SLC18A3c.721A>C (p.Lys241Gln)
c.-69+2262A>C (n.-69+2262A>C)
10g.49611461A>GCA376720484CHAT,SLC18A3c.721A>G (p.Lys241Glu)
c.-69+2262A>G (n.-69+2262A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611461A>TCA376720481CHAT,SLC18A3c.721A>T (p.Lys241Ter)
c.-69+2262A>T (n.-69+2262A>T)
10g.49611462A>CCA376720487CHAT,SLC18A3c.722A>C (p.Lys241Thr)
c.-69+2263A>C (n.-69+2263A>C)
10g.49611462A>GCA376720488CHAT,SLC18A3c.722A>G (p.Lys241Arg)
c.-69+2263A>G (n.-69+2263A>G)
10g.49611462A>TCA376720490CHAT,SLC18A3c.722A>T (p.Lys241Met)
c.-69+2263A>T (n.-69+2263A>T)
10g.49611463G>ACA469791796CHAT,SLC18A3c.723G>A (p.Lys241=)
c.-69+2264G>A (n.-69+2264G>A)
 gnomAD v4
10g.49611463G>CCA376720492CHAT,SLC18A3c.723G>C (p.Lys241Asn)
c.-69+2264G>C (n.-69+2264G>C)
10g.49611463G=CA1908793852CHAT,SLC18A3c.723G= (p.Lys241=)
c.-69+2264G= (n.-69+2264G=)
10g.49611463G>TCA206621169CHAT,SLC18A3c.723G>T (p.Lys241Asn)
c.-69+2264G>T (n.-69+2264G>T)
 dbSNP
10g.49611464C>ACA5496829CHAT,SLC18A3c.724C>A (p.Arg242Ser)
c.-69+2265C>A (n.-69+2265C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611464C=CA1908793858CHAT,SLC18A3c.724C= (p.Arg242=)
c.-69+2265C= (n.-69+2265C=)
10g.49611464C>GCA376720496CHAT,SLC18A3c.724C>G (p.Arg242Gly)
c.-69+2265C>G (n.-69+2265C>G)
 dbSNP gnomAD v4
10g.49611464C>TCA376720498CHAT,SLC18A3c.724C>T (p.Arg242Cys)
c.-69+2265C>T (n.-69+2265C>T)
 gnomAD v4
10g.49611465G>ACA376720501CHAT,SLC18A3c.725G>A (p.Arg242His)
c.-69+2266G>A (n.-69+2266G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611465G>CCA376720504CHAT,SLC18A3c.725G>C (p.Arg242Pro)
c.-69+2266G>C (n.-69+2266G>C)
10g.49611465G=CA1908793864CHAT,SLC18A3c.725G= (p.Arg242=)
c.-69+2266G= (n.-69+2266G=)
10g.49611465G>TCA376720506CHAT,SLC18A3c.725G>T (p.Arg242Leu)
c.-69+2266G>T (n.-69+2266G>T)
10g.49611466C>ACA469791809CHAT,SLC18A3c.726C>A (p.Arg242=)
c.-69+2267C>A (n.-69+2267C>A)
10g.49611466C=CA1908793868CHAT,SLC18A3c.726C= (p.Arg242=)
c.-69+2267C= (n.-69+2267C=)
10g.49611466C>GCA469791804CHAT,SLC18A3c.726C>G (p.Arg242=)
c.-69+2267C>G (n.-69+2267C>G)
10g.49611466C>TCA469791806CHAT,SLC18A3c.726C>T (p.Arg242=)
c.-69+2267C>T (n.-69+2267C>T)
 dbSNP gnomAD v4 COSMIC
10g.49611467G>ACA376720510CHAT,SLC18A3c.727G>A (p.Val243Met)
c.-69+2268G>A (n.-69+2268G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611467G>CCA376720508CHAT,SLC18A3c.727G>C (p.Val243Leu)
c.-69+2268G>C (n.-69+2268G>C)
10g.49611467G=CA1908793875CHAT,SLC18A3c.727G= (p.Val243=)
c.-69+2268G= (n.-69+2268G=)
10g.49611467G>TCA5496830CHAT,SLC18A3c.727G>T (p.Val243Leu)
c.-69+2268G>T (n.-69+2268G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611471_49611482delCA2609116067CHAT,SLC18A3c.731_742del (p.Pro244_Val247del)
c.-69+2272_-69+2283del (n.-69+2272_-69+2283del)
 gnomAD v4
10g.49611468T>ACA376720513CHAT,SLC18A3c.728T>A (p.Val243Glu)
c.-69+2269T>A (n.-69+2269T>A)
10g.49611468T>CCA376720515CHAT,SLC18A3c.728T>C (p.Val243Ala)
c.-69+2269T>C (n.-69+2269T>C)
10g.49611468T>GCA376720518CHAT,SLC18A3c.728T>G (p.Val243Gly)
c.-69+2269T>G (n.-69+2269T>G)
 gnomAD v4
10g.49611469G>ACA206621175CHAT,SLC18A3c.729G>A (p.Val243=)
c.-69+2270G>A (n.-69+2270G>A)
 dbSNP gnomAD v4
10g.49611469G>CCA469791814CHAT,SLC18A3c.729G>C (p.Val243=)
c.-69+2270G>C (n.-69+2270G>C)
10g.49611469G=CA1908793885CHAT,SLC18A3c.729G= (p.Val243=)
c.-69+2270G= (n.-69+2270G=)
10g.49611469G>TCA469791816CHAT,SLC18A3c.729G>T (p.Val243=)
c.-69+2270G>T (n.-69+2270G>T)
10g.49611470C>ACA376720520CHAT,SLC18A3c.730C>A (p.Pro244Thr)
c.-69+2271C>A (n.-69+2271C>A)
 gnomAD v4
10g.49611470C>GCA376720522CHAT,SLC18A3c.730C>G (p.Pro244Ala)
c.-69+2271C>G (n.-69+2271C>G)
10g.49611470C>TCA376720525CHAT,SLC18A3c.730C>T (p.Pro244Ser)
c.-69+2271C>T (n.-69+2271C>T)
 gnomAD v4
10g.49611471C>ACA376720527CHAT,SLC18A3c.731C>A (p.Pro244His)
c.-69+2272C>A (n.-69+2272C>A)
10g.49611471C>GCA376720528CHAT,SLC18A3c.731C>G (p.Pro244Arg)
c.-69+2272C>G (n.-69+2272C>G)
10g.49611471C>TCA376720530CHAT,SLC18A3c.731C>T (p.Pro244Leu)
c.-69+2272C>T (n.-69+2272C>T)
10g.49611472C>ACA469791822CHAT,SLC18A3c.732C>A (p.Pro244=)
c.-69+2273C>A (n.-69+2273C>A)
 COSMIC
10g.49611472C>GCA469791824CHAT,SLC18A3c.732C>G (p.Pro244=)
c.-69+2273C>G (n.-69+2273C>G)
 gnomAD v4
10g.49611472C>TCA469791823CHAT,SLC18A3c.732C>T (p.Pro244=)
c.-69+2273C>T (n.-69+2273C>T)
 gnomAD v4
10g.49611473T>ACA376720535CHAT,SLC18A3c.733T>A (p.Phe245Ile)
c.-69+2274T>A (n.-69+2274T>A)
10g.49611473T>CCA5496831CHAT,SLC18A3c.733T>C (p.Phe245Leu)
c.-69+2274T>C (n.-69+2274T>C)
 dbSNP ExAC gnomAD v2
10g.49611473T>GCA376720533CHAT,SLC18A3c.733T>G (p.Phe245Val)
c.-69+2274T>G (n.-69+2274T>G)
10g.49611473T=CA1908793890CHAT,SLC18A3c.733T= (p.Phe245=)
c.-69+2274T= (n.-69+2274T=)
10g.49611474T>ACA376720537CHAT,SLC18A3c.734T>A (p.Phe245Tyr)
c.-69+2275T>A (n.-69+2275T>A)
10g.49611474T>CCA376720539CHAT,SLC18A3c.734T>C (p.Phe245Ser)
c.-69+2275T>C (n.-69+2275T>C)
10g.49611474T>GCA376720541CHAT,SLC18A3c.734T>G (p.Phe245Cys)
c.-69+2275T>G (n.-69+2275T>G)
10g.49611475C>ACA376720543CHAT,SLC18A3c.735C>A (p.Phe245Leu)
c.-69+2276C>A (n.-69+2276C>A)
10g.49611475C>GCA376720544CHAT,SLC18A3c.735C>G (p.Phe245Leu)
c.-69+2276C>G (n.-69+2276C>G)
10g.49611475C>TCA469791827CHAT,SLC18A3c.735C>T (p.Phe245=)
c.-69+2276C>T (n.-69+2276C>T)
 gnomAD v4
10g.49611476T>ACA376720547CHAT,SLC18A3c.736T>A (p.Leu246Met)
c.-69+2277T>A (n.-69+2277T>A)
10g.49611476T>CCA469791831CHAT,SLC18A3c.736T>C (p.Leu246=)
c.-69+2277T>C (n.-69+2277T>C)
 gnomAD v4
10g.49611476T>GCA376720548CHAT,SLC18A3c.736T>G (p.Leu246Val)
c.-69+2277T>G (n.-69+2277T>G)
10g.49611477T>ACA376720550CHAT,SLC18A3c.737T>A (p.Leu246Ter)
c.-69+2278T>A (n.-69+2278T>A)
10g.49611477T>CCA376720552CHAT,SLC18A3c.737T>C (p.Leu246Ser)
c.-69+2278T>C (n.-69+2278T>C)
10g.49611477T>GCA376720554CHAT,SLC18A3c.737T>G (p.Leu246Trp)
c.-69+2278T>G (n.-69+2278T>G)
10g.49611477_49611478delinsTGCA1908793896CHAT,SLC18A3c.737_738delinsTG (p.Leu246=)
c.-69+2278_-69+2279delinsTG (n.-69+2278_-69+2279delinsTG)
10g.49611478G>ACA469791834CHAT,SLC18A3c.738G>A (p.Leu246=)
c.-69+2279G>A (n.-69+2279G>A)
10g.49611478G>CCA376720557CHAT,SLC18A3c.738G>C (p.Leu246Phe)
c.-69+2279G>C (n.-69+2279G>C)
 dbSNP gnomAD v4
10g.49611478G=CA1908793907CHAT,SLC18A3c.738G= (p.Leu246=)
c.-69+2279G= (n.-69+2279G=)
10g.49611478G>TCA376720558CHAT,SLC18A3c.738G>T (p.Leu246Phe)
c.-69+2279G>T (n.-69+2279G>T)
 COSMIC
10g.49611479delCA1908793903CHAT,SLC18A3c.739del (p.Val247CysfsTer2)
c.-69+2280del (n.-69+2280del)
 dbSNP
10g.49611479G>ACA376720563CHAT,SLC18A3c.739G>A (p.Val247Met)
c.-69+2280G>A (n.-69+2280G>A)
10g.49611479G>CCA376720565CHAT,SLC18A3c.739G>C (p.Val247Leu)
c.-69+2280G>C (n.-69+2280G>C)
10g.49611479G>TCA376720561CHAT,SLC18A3c.739G>T (p.Val247Leu)
c.-69+2280G>T (n.-69+2280G>T)
10g.49611480T>ACA376720567CHAT,SLC18A3c.740T>A (p.Val247Glu)
c.-69+2281T>A (n.-69+2281T>A)
10g.49611480T>CCA376720568CHAT,SLC18A3c.740T>C (p.Val247Ala)
c.-69+2281T>C (n.-69+2281T>C)
10g.49611480T>GCA376720571CHAT,SLC18A3c.740T>G (p.Val247Gly)
c.-69+2281T>G (n.-69+2281T>G)
10g.49611481G>ACA469791839CHAT,SLC18A3c.741G>A (p.Val247=)
c.-69+2282G>A (n.-69+2282G>A)
10g.49611481G>CCA469791837CHAT,SLC18A3c.741G>C (p.Val247=)
c.-69+2282G>C (n.-69+2282G>C)
10g.49611481G=CA1908793911CHAT,SLC18A3c.741G= (p.Val247=)
c.-69+2282G= (n.-69+2282G=)
10g.49611481G>TCA206621181CHAT,SLC18A3c.741G>T (p.Val247=)
c.-69+2282G>T (n.-69+2282G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611482C>ACA376720573CHAT,SLC18A3c.742C>A (p.Leu248Ile)
c.-69+2283C>A (n.-69+2283C>A)
10g.49611482C>GCA376720574CHAT,SLC18A3c.742C>G (p.Leu248Val)
c.-69+2283C>G (n.-69+2283C>G)
10g.49611482C>TCA469791842CHAT,SLC18A3c.742C>T (p.Leu248=)
c.-69+2283C>T (n.-69+2283C>T)
 gnomAD v4
10g.49611483T>ACA376720580CHAT,SLC18A3c.743T>A (p.Leu248Gln)
c.-69+2284T>A (n.-69+2284T>A)
10g.49611483T>CCA376720577CHAT,SLC18A3c.743T>C (p.Leu248Pro)
c.-69+2284T>C (n.-69+2284T>C)
10g.49611483T>GCA376720579CHAT,SLC18A3c.743T>G (p.Leu248Arg)
c.-69+2284T>G (n.-69+2284T>G)
10g.49611484A>CCA469791852CHAT,SLC18A3c.744A>C (p.Leu248=)
c.-69+2285A>C (n.-69+2285A>C)
 gnomAD v4
10g.49611484A>GCA469791853CHAT,SLC18A3c.744A>G (p.Leu248=)
c.-69+2285A>G (n.-69+2285A>G)
10g.49611484A>TCA469791851CHAT,SLC18A3c.744A>T (p.Leu248=)
c.-69+2285A>T (n.-69+2285A>T)
10g.49611485G>ACA376720583CHAT,SLC18A3c.745G>A (p.Ala249Thr)
c.-69+2286G>A (n.-69+2286G>A)
10g.49611485G>CCA376720585CHAT,SLC18A3c.745G>C (p.Ala249Pro)
c.-69+2286G>C (n.-69+2286G>C)
 dbSNP
10g.49611485G=CA1908793915CHAT,SLC18A3c.745G= (p.Ala249=)
c.-69+2286G= (n.-69+2286G=)
10g.49611485G>TCA376720587CHAT,SLC18A3c.745G>T (p.Ala249Ser)
c.-69+2286G>T (n.-69+2286G>T)
 gnomAD v4
10g.49611486C>ACA376720590CHAT,SLC18A3c.746C>A (p.Ala249Asp)
c.-69+2287C>A (n.-69+2287C>A)
 gnomAD v4
10g.49611486C>GCA376720592CHAT,SLC18A3c.746C>G (p.Ala249Gly)
c.-69+2287C>G (n.-69+2287C>G)
10g.49611486C>TCA376720595CHAT,SLC18A3c.746C>T (p.Ala249Val)
c.-69+2287C>T (n.-69+2287C>T)
10g.49611487T>ACA469791863CHAT,SLC18A3c.747T>A (p.Ala249=)
c.-69+2288T>A (n.-69+2288T>A)
10g.49611487T>CCA469791862CHAT,SLC18A3c.747T>C (p.Ala249=)
c.-69+2288T>C (n.-69+2288T>C)
10g.49611487T>GCA469791861CHAT,SLC18A3c.747T>G (p.Ala249=)
c.-69+2288T>G (n.-69+2288T>G)
10g.49611488G>ACA376720602CHAT,SLC18A3c.748G>A (p.Ala250Thr)
c.-69+2289G>A (n.-69+2289G>A)
10g.49611488G>CCA376720599CHAT,SLC18A3c.748G>C (p.Ala250Pro)
c.-69+2289G>C (n.-69+2289G>C)
10g.49611488G>TCA376720597CHAT,SLC18A3c.748G>T (p.Ala250Ser)
c.-69+2289G>T (n.-69+2289G>T)
10g.49611489C>ACA376720607CHAT,SLC18A3c.749C>A (p.Ala250Asp)
c.-69+2290C>A (n.-69+2290C>A)
10g.49611489C=CA1908793921CHAT,SLC18A3c.749C= (p.Ala250=)
c.-69+2290C= (n.-69+2290C=)
10g.49611489C>GCA376720604CHAT,SLC18A3c.749C>G (p.Ala250Gly)
c.-69+2290C>G (n.-69+2290C>G)
10g.49611489C>TCA376720608CHAT,SLC18A3c.749C>T (p.Ala250Val)
c.-69+2290C>T (n.-69+2290C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611490C>ACA5496832CHAT,SLC18A3c.750C>A (p.Ala250=)
c.-69+2291C>A (n.-69+2291C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611490C=CA1908793927CHAT,SLC18A3c.750C= (p.Ala250=)
c.-69+2291C= (n.-69+2291C=)
10g.49611490C>GCA469791869CHAT,SLC18A3c.750C>G (p.Ala250=)
c.-69+2291C>G (n.-69+2291C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611490C>TCA206621186CHAT,SLC18A3c.750C>T (p.Ala250=)
c.-69+2291C>T (n.-69+2291C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611491G>ACA376720613CHAT,SLC18A3c.751G>A (p.Val251Met)
c.-69+2292G>A (n.-69+2292G>A)
 dbSNP gnomAD v4
10g.49611491G>CCA376720615CHAT,SLC18A3c.751G>C (p.Val251Leu)
c.-69+2292G>C (n.-69+2292G>C)
 gnomAD v4
10g.49611491G=CA1908793937CHAT,SLC18A3c.751G= (p.Val251=)
c.-69+2292G= (n.-69+2292G=)
10g.49611491G>TCA376720617CHAT,SLC18A3c.751G>T (p.Val251Leu)
c.-69+2292G>T (n.-69+2292G>T)
 COSMIC
10g.49611492T>ACA376720621CHAT,SLC18A3c.752T>A (p.Val251Glu)
c.-69+2293T>A (n.-69+2293T>A)
10g.49611492T>CCA376720622CHAT,SLC18A3c.752T>C (p.Val251Ala)
c.-69+2293T>C (n.-69+2293T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611492T>GCA376720624CHAT,SLC18A3c.752T>G (p.Val251Gly)
c.-69+2293T>G (n.-69+2293T>G)
 gnomAD v4
10g.49611492T=CA1908793940CHAT,SLC18A3c.752T= (p.Val251=)
c.-69+2293T= (n.-69+2293T=)
10g.49611493G>ACA469791876CHAT,SLC18A3c.753G>A (p.Val251=)
c.-69+2294G>A (n.-69+2294G>A)
10g.49611493G>CCA469791875CHAT,SLC18A3c.753G>C (p.Val251=)
c.-69+2294G>C (n.-69+2294G>C)
10g.49611493G=CA1908793948CHAT,SLC18A3c.753G= (p.Val251=)
c.-69+2294G= (n.-69+2294G=)
10g.49611493G>TCA469791874CHAT,SLC18A3c.753G>T (p.Val251=)
c.-69+2294G>T (n.-69+2294G>T)
 dbSNP
10g.49611494T>ACA376720626CHAT,SLC18A3c.754T>A (p.Ser252Thr)
c.-69+2295T>A (n.-69+2295T>A)
 gnomAD v4
10g.49611494T>CCA376720627CHAT,SLC18A3c.754T>C (p.Ser252Pro)
c.-69+2295T>C (n.-69+2295T>C)
10g.49611494T>GCA376720630CHAT,SLC18A3c.754T>G (p.Ser252Ala)
c.-69+2295T>G (n.-69+2295T>G)
10g.49611495C>ACA376720633CHAT,SLC18A3c.755C>A (p.Ser252Ter)
c.-69+2296C>A (n.-69+2296C>A)
10g.49611495C>GCA376720635CHAT,SLC18A3c.755C>G (p.Ser252Trp)
c.-69+2296C>G (n.-69+2296C>G)
10g.49611495C>TCA376720637CHAT,SLC18A3c.755C>T (p.Ser252Leu)
c.-69+2296C>T (n.-69+2296C>T)
 gnomAD v4 COSMIC
10g.49611496G>ACA5496833CHAT,SLC18A3c.756G>A (p.Ser252=)
c.-69+2297G>A (n.-69+2297G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611496G>CCA469791884CHAT,SLC18A3c.756G>C (p.Ser252=)
c.-69+2297G>C (n.-69+2297G>C)
10g.49611496G=CA1908793953CHAT,SLC18A3c.756G= (p.Ser252=)
c.-69+2297G= (n.-69+2297G=)
10g.49611496G>TCA206621191CHAT,SLC18A3c.756G>T (p.Ser252=)
c.-69+2297G>T (n.-69+2297G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611497C>ACA376720641CHAT,SLC18A3c.757C>A (p.Leu253Ile)
c.-69+2298C>A (n.-69+2298C>A)
10g.49611497C>GCA376720643CHAT,SLC18A3c.757C>G (p.Leu253Val)
c.-69+2298C>G (n.-69+2298C>G)
10g.49611497C>TCA376720645CHAT,SLC18A3c.757C>T (p.Leu253Phe)
c.-69+2298C>T (n.-69+2298C>T)
10g.49611498T>ACA376720647CHAT,SLC18A3c.758T>A (p.Leu253His)
c.-69+2299T>A (n.-69+2299T>A)
10g.49611498T>CCA5496834CHAT,SLC18A3c.758T>C (p.Leu253Pro)
c.-69+2299T>C (n.-69+2299T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611498T>GCA376720650CHAT,SLC18A3c.758T>G (p.Leu253Arg)
c.-69+2299T>G (n.-69+2299T>G)
10g.49611498T=CA1908793956CHAT,SLC18A3c.758T= (p.Leu253=)
c.-69+2299T= (n.-69+2299T=)
10g.49611499C>ACA469791895CHAT,SLC18A3c.759C>A (p.Leu253=)
c.-69+2300C>A (n.-69+2300C>A)
10g.49611499C=CA1908793959CHAT,SLC18A3c.759C= (p.Leu253=)
c.-69+2300C= (n.-69+2300C=)
10g.49611499C>GCA469791896CHAT,SLC18A3c.759C>G (p.Leu253=)
c.-69+2300C>G (n.-69+2300C>G)
 gnomAD v4
10g.49611499C>TCA469791894CHAT,SLC18A3c.759C>T (p.Leu253=)
c.-69+2300C>T (n.-69+2300C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611500T>ACA376720652CHAT,SLC18A3c.760T>A (p.Phe254Ile)
c.-69+2301T>A (n.-69+2301T>A)
10g.49611500T>CCA376720654CHAT,SLC18A3c.760T>C (p.Phe254Leu)
c.-69+2301T>C (n.-69+2301T>C)
10g.49611500T>GCA376720656CHAT,SLC18A3c.760T>G (p.Phe254Val)
c.-69+2301T>G (n.-69+2301T>G)
10g.49611500_49611501insGCA2609116128CHAT,SLC18A3c.760_761insG (p.Phe254CysfsTer2)
c.-69+2301_-69+2302insG (n.-69+2301_-69+2302insG)
 gnomAD v4
10g.49611501T>ACA376720659CHAT,SLC18A3c.761T>A (p.Phe254Tyr)
c.-69+2302T>A (n.-69+2302T>A)
10g.49611501T>CCA376720661CHAT,SLC18A3c.761T>C (p.Phe254Ser)
c.-69+2302T>C (n.-69+2302T>C)
10g.49611501T>GCA376720662CHAT,SLC18A3c.761T>G (p.Phe254Cys)
c.-69+2302T>G (n.-69+2302T>G)
10g.49611502T>ACA376720666CHAT,SLC18A3c.762T>A (p.Phe254Leu)
c.-69+2303T>A (n.-69+2303T>A)
10g.49611502T>CCA469791905CHAT,SLC18A3c.762T>C (p.Phe254=)
c.-69+2303T>C (n.-69+2303T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611502T>GCA376720667CHAT,SLC18A3c.762T>G (p.Phe254Leu)
c.-69+2303T>G (n.-69+2303T>G)
10g.49611502T=CA1908793963CHAT,SLC18A3c.762T= (p.Phe254=)
c.-69+2303T= (n.-69+2303T=)
10g.49611503G>ACA376720670CHAT,SLC18A3c.763G>A (p.Asp255Asn)
c.-69+2304G>A (n.-69+2304G>A)
10g.49611503G>CCA376720674CHAT,SLC18A3c.763G>C (p.Asp255His)
c.-69+2304G>C (n.-69+2304G>C)
10g.49611503G>TCA376720672CHAT,SLC18A3c.763G>T (p.Asp255Tyr)
c.-69+2304G>T (n.-69+2304G>T)
 gnomAD v4
10g.49611504A=CA1908793969CHAT,SLC18A3c.764A= (p.Asp255=)
c.-69+2305A= (n.-69+2305A=)
10g.49611504A>CCA376720676CHAT,SLC18A3c.764A>C (p.Asp255Ala)
c.-69+2305A>C (n.-69+2305A>C)
10g.49611504A>GCA376720678CHAT,SLC18A3c.764A>G (p.Asp255Gly)
c.-69+2305A>G (n.-69+2305A>G)
 dbSNP
10g.49611504A>TCA376720679CHAT,SLC18A3c.764A>T (p.Asp255Val)
c.-69+2305A>T (n.-69+2305A>T)
10g.49611505C>ACA376720681CHAT,SLC18A3c.765C>A (p.Asp255Glu)
c.-69+2306C>A (n.-69+2306C>A)
10g.49611505C=CA1908793974CHAT,SLC18A3c.765C= (p.Asp255=)
c.-69+2306C= (n.-69+2306C=)
10g.49611505C>GCA376720683CHAT,SLC18A3c.765C>G (p.Asp255Glu)
c.-69+2306C>G (n.-69+2306C>G)
10g.49611505C>TCA469791911CHAT,SLC18A3c.765C>T (p.Asp255=)
c.-69+2306C>T (n.-69+2306C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611506G>ACA376720689CHAT,SLC18A3c.766G>A (p.Ala256Thr)
c.-69+2307G>A (n.-69+2307G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611506G>CCA376720687CHAT,SLC18A3c.766G>C (p.Ala256Pro)
c.-69+2307G>C (n.-69+2307G>C)
10g.49611506G=CA1908793977CHAT,SLC18A3c.766G= (p.Ala256=)
c.-69+2307G= (n.-69+2307G=)
10g.49611506G>TCA376720685CHAT,SLC18A3c.766G>T (p.Ala256Ser)
c.-69+2307G>T (n.-69+2307G>T)
 gnomAD v4
10g.49611507C>ACA376720691CHAT,SLC18A3c.767C>A (p.Ala256Glu)
c.-69+2308C>A (n.-69+2308C>A)
10g.49611507C=CA1908793982CHAT,SLC18A3c.767C= (p.Ala256=)
c.-69+2308C= (n.-69+2308C=)
10g.49611507C>GCA376720694CHAT,SLC18A3c.767C>G (p.Ala256Gly)
c.-69+2308C>G (n.-69+2308C>G)
10g.49611507C>TCA206621195CHAT,SLC18A3c.767C>T (p.Ala256Val)
c.-69+2308C>T (n.-69+2308C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611508G>ACA5496835CHAT,SLC18A3c.768G>A (p.Ala256=)
c.-69+2309G>A (n.-69+2309G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611508G>CCA469791928CHAT,SLC18A3c.768G>C (p.Ala256=)
c.-69+2309G>C (n.-69+2309G>C)
10g.49611508G=CA1908793985CHAT,SLC18A3c.768G= (p.Ala256=)
c.-69+2309G= (n.-69+2309G=)
10g.49611508G>TCA469791929CHAT,SLC18A3c.768G>T (p.Ala256=)
c.-69+2309G>T (n.-69+2309G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611509C>ACA376720698CHAT,SLC18A3c.769C>A (p.Leu257Met)
c.-69+2310C>A (n.-69+2310C>A)
 dbSNP gnomAD v2
10g.49611509C=CA1908793989CHAT,SLC18A3c.769C= (p.Leu257=)
c.-69+2310C= (n.-69+2310C=)
10g.49611509C>GCA376720700CHAT,SLC18A3c.769C>G (p.Leu257Val)
c.-69+2310C>G (n.-69+2310C>G)
10g.49611509C>TCA469791934CHAT,SLC18A3c.769C>T (p.Leu257=)
c.-69+2310C>T (n.-69+2310C>T)
 ClinVar
10g.49611510T>ACA376720703CHAT,SLC18A3c.770T>A (p.Leu257Gln)
c.-69+2311T>A (n.-69+2311T>A)
10g.49611510T>CCA376720707CHAT,SLC18A3c.770T>C (p.Leu257Pro)
c.-69+2311T>C (n.-69+2311T>C)
 COSMIC
10g.49611510T>GCA376720705CHAT,SLC18A3c.770T>G (p.Leu257Arg)
c.-69+2311T>G (n.-69+2311T>G)
10g.49611511G>ACA469791941CHAT,SLC18A3c.771G>A (p.Leu257=)
c.-69+2312G>A (n.-69+2312G>A)
10g.49611511G>CCA469791939CHAT,SLC18A3c.771G>C (p.Leu257=)
c.-69+2312G>C (n.-69+2312G>C)
10g.49611511G>TCA469791940CHAT,SLC18A3c.771G>T (p.Leu257=)
c.-69+2312G>T (n.-69+2312G>T)
10g.49611512T>ACA376720709CHAT,SLC18A3c.772T>A (p.Leu258Met)
c.-69+2313T>A (n.-69+2313T>A)
10g.49611512T>CCA5496836CHAT,SLC18A3c.772T>C (p.Leu258=)
c.-69+2313T>C (n.-69+2313T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611512T>GCA376720712CHAT,SLC18A3c.772T>G (p.Leu258Val)
c.-69+2313T>G (n.-69+2313T>G)
10g.49611512T=CA1908793992CHAT,SLC18A3c.772T= (p.Leu258=)
c.-69+2313T= (n.-69+2313T=)
10g.49611513T>ACA376720715CHAT,SLC18A3c.773T>A (p.Leu258Ter)
c.-69+2314T>A (n.-69+2314T>A)
10g.49611513T>CCA376720717CHAT,SLC18A3c.773T>C (p.Leu258Ser)
c.-69+2314T>C (n.-69+2314T>C)
10g.49611513T>GCA376720719CHAT,SLC18A3c.773T>G (p.Leu258Trp)
c.-69+2314T>G (n.-69+2314T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611513T=CA1908793996CHAT,SLC18A3c.773T= (p.Leu258=)
c.-69+2314T= (n.-69+2314T=)
10g.49611514G>ACA469791955CHAT,SLC18A3c.774G>A (p.Leu258=)
c.-69+2315G>A (n.-69+2315G>A)
 gnomAD v4
10g.49611514G>CCA206621201CHAT,SLC18A3c.774G>C (p.Leu258Phe)
c.-69+2315G>C (n.-69+2315G>C)
 dbSNP
10g.49611514G=CA1908794001CHAT,SLC18A3c.774G= (p.Leu258=)
c.-69+2315G= (n.-69+2315G=)
10g.49611514G>TCA376720722CHAT,SLC18A3c.774G>T (p.Leu258Phe)
c.-69+2315G>T (n.-69+2315G>T)
 gnomAD v4
10g.49611515C>ACA376720725CHAT,SLC18A3c.775C>A (p.Leu259Met)
c.-69+2316C>A (n.-69+2316C>A)
 gnomAD v4 COSMIC
10g.49611515C=CA1908794006CHAT,SLC18A3c.775C= (p.Leu259=)
c.-69+2316C= (n.-69+2316C=)
10g.49611515C>GCA376720727CHAT,SLC18A3c.775C>G (p.Leu259Val)
c.-69+2316C>G (n.-69+2316C>G)
10g.49611515C>TCA5496837CHAT,SLC18A3c.775C>T (p.Leu259=)
c.-69+2316C>T (n.-69+2316C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611516T>ACA376720733CHAT,SLC18A3c.776T>A (p.Leu259Gln)
c.-69+2317T>A (n.-69+2317T>A)
10g.49611516T>CCA376720735CHAT,SLC18A3c.776T>C (p.Leu259Pro)
c.-69+2317T>C (n.-69+2317T>C)
10g.49611516T>GCA376720732CHAT,SLC18A3c.776T>G (p.Leu259Arg)
c.-69+2317T>G (n.-69+2317T>G)
10g.49611517G>ACA469791971CHAT,SLC18A3c.777G>A (p.Leu259=)
c.-69+2318G>A (n.-69+2318G>A)
10g.49611517G>CCA469791968CHAT,SLC18A3c.777G>C (p.Leu259=)
c.-69+2318G>C (n.-69+2318G>C)
10g.49611517G>TCA469791969CHAT,SLC18A3c.777G>T (p.Leu259=)
c.-69+2318G>T (n.-69+2318G>T)
 gnomAD v4
10g.49611518C>ACA5496838CHAT,SLC18A3c.778C>A (p.Leu260Met)
c.-69+2319C>A (n.-69+2319C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611518C=CA1908794014CHAT,SLC18A3c.778C= (p.Leu260=)
c.-69+2319C= (n.-69+2319C=)
10g.49611518C>GCA376720738CHAT,SLC18A3c.778C>G (p.Leu260Val)
c.-69+2319C>G (n.-69+2319C>G)
10g.49611518C>TCA469791974CHAT,SLC18A3c.778C>T (p.Leu260=)
c.-69+2319C>T (n.-69+2319C>T)
 dbSNP gnomAD v2
10g.49611519T>ACA376720741CHAT,SLC18A3c.779T>A (p.Leu260Gln)
c.-69+2320T>A (n.-69+2320T>A)
 ClinVar dbSNP
10g.49611519T>CCA376720742CHAT,SLC18A3c.779T>C (p.Leu260Pro)
c.-69+2320T>C (n.-69+2320T>C)
 COSMIC
10g.49611519T>GCA376720744CHAT,SLC18A3c.779T>G (p.Leu260Arg)
c.-69+2320T>G (n.-69+2320T>G)
10g.49611519T=CA1908794019CHAT,SLC18A3c.779T= (p.Leu260=)
c.-69+2320T= (n.-69+2320T=)
10g.49611520G>ACA469791978CHAT,SLC18A3c.780G>A (p.Leu260=)
c.-69+2321G>A (n.-69+2321G>A)
10g.49611520G>CCA469791979CHAT,SLC18A3c.780G>C (p.Leu260=)
c.-69+2321G>C (n.-69+2321G>C)
10g.49611520G>TCA469791980CHAT,SLC18A3c.780G>T (p.Leu260=)
c.-69+2321G>T (n.-69+2321G>T)
10g.49611521G>ACA376720747CHAT,SLC18A3c.781G>A (p.Ala261Thr)
c.-69+2322G>A (n.-69+2322G>A)
 ClinVar dbSNP gnomAD v4
10g.49611521G>CCA5496839CHAT,SLC18A3c.781G>C (p.Ala261Pro)
c.-69+2322G>C (n.-69+2322G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611521G=CA1908794022CHAT,SLC18A3c.781G= (p.Ala261=)
c.-69+2322G= (n.-69+2322G=)
10g.49611521G>TCA376720750CHAT,SLC18A3c.781G>T (p.Ala261Ser)
c.-69+2322G>T (n.-69+2322G>T)
 gnomAD v4
10g.49611522C>ACA376720757CHAT,SLC18A3c.782C>A (p.Ala261Glu)
c.-69+2323C>A (n.-69+2323C>A)
10g.49611522C=CA1908794027CHAT,SLC18A3c.782C= (p.Ala261=)
c.-69+2323C= (n.-69+2323C=)
10g.49611522C>GCA376720754CHAT,SLC18A3c.782C>G (p.Ala261Gly)
c.-69+2323C>G (n.-69+2323C>G)
10g.49611522C>TCA5496840CHAT,SLC18A3c.782C>T (p.Ala261Val)
c.-69+2323C>T (n.-69+2323C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611523A>CCA469791996CHAT,SLC18A3c.783A>C (p.Ala261=)
c.-69+2324A>C (n.-69+2324A>C)
10g.49611523A>GCA469791992CHAT,SLC18A3c.783A>G (p.Ala261=)
c.-69+2324A>G (n.-69+2324A>G)
 gnomAD v4
10g.49611523A>TCA469791999CHAT,SLC18A3c.783A>T (p.Ala261=)
c.-69+2324A>T (n.-69+2324A>T)
10g.49611524G>ACA376720759CHAT,SLC18A3c.784G>A (p.Val262Met)
c.-69+2325G>A (n.-69+2325G>A)
10g.49611524G>CCA376720761CHAT,SLC18A3c.784G>C (p.Val262Leu)
c.-69+2325G>C (n.-69+2325G>C)
10g.49611524G>TCA376720763CHAT,SLC18A3c.784G>T (p.Val262Leu)
c.-69+2325G>T (n.-69+2325G>T)
10g.49611525T>ACA376720766CHAT,SLC18A3c.785T>A (p.Val262Glu)
c.-69+2326T>A (n.-69+2326T>A)
10g.49611525T>CCA376720767CHAT,SLC18A3c.785T>C (p.Val262Ala)
c.-69+2326T>C (n.-69+2326T>C)
 gnomAD v4
10g.49611525T>GCA376720770CHAT,SLC18A3c.785T>G (p.Val262Gly)
c.-69+2326T>G (n.-69+2326T>G)
10g.49611526G>ACA469792015CHAT,SLC18A3c.786G>A (p.Val262=)
c.-69+2327G>A (n.-69+2327G>A)
 dbSNP
10g.49611526G>CCA469792013CHAT,SLC18A3c.786G>C (p.Val262=)
c.-69+2327G>C (n.-69+2327G>C)
10g.49611526G=CA1908794035CHAT,SLC18A3c.786G= (p.Val262=)
c.-69+2327G= (n.-69+2327G=)
10g.49611526G>TCA469792014CHAT,SLC18A3c.786G>T (p.Val262=)
c.-69+2327G>T (n.-69+2327G>T)
 gnomAD v4
10g.49611527G>ACA376720773CHAT,SLC18A3c.787G>A (p.Ala263Thr)
c.-69+2328G>A (n.-69+2328G>A)
 gnomAD v4 COSMIC
10g.49611527G>CCA376720777CHAT,SLC18A3c.787G>C (p.Ala263Pro)
c.-69+2328G>C (n.-69+2328G>C)
10g.49611527G=CA1908794041CHAT,SLC18A3c.787G= (p.Ala263=)
c.-69+2328G= (n.-69+2328G=)
10g.49611527G>TCA376720775CHAT,SLC18A3c.787G>T (p.Ala263Ser)
c.-69+2328G>T (n.-69+2328G>T)
 dbSNP gnomAD v4

Number of alleles fetched