Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611030_49611058delCA2609114943CHAT,SLC18A3c.290_318del (p.Thr97SerfsTer?)
c.-69+1831_-69+1859del (n.-69+1831_-69+1859del)
 gnomAD v4
10g.49611029A=CA1908792746CHAT,SLC18A3c.289A= (p.Thr97=)
c.-69+1830A= (n.-69+1830A=)
10g.49611029A>CCA376717032CHAT,SLC18A3c.289A>C (p.Thr97Pro)
c.-69+1830A>C (n.-69+1830A>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611029A>GCA376717034CHAT,SLC18A3c.289A>G (p.Thr97Ala)
c.-69+1830A>G (n.-69+1830A>G)
 gnomAD v4
10g.49611029A>TCA376717037CHAT,SLC18A3c.289A>T (p.Thr97Ser)
c.-69+1830A>T (n.-69+1830A>T)
 gnomAD v4
10g.49611030C>ACA376717043CHAT,SLC18A3c.290C>A (p.Thr97Asn)
c.-69+1831C>A (n.-69+1831C>A)
10g.49611030C=CA1908792749CHAT,SLC18A3c.290C= (p.Thr97=)
c.-69+1831C= (n.-69+1831C=)
10g.49611030C>GCA376717041CHAT,SLC18A3c.290C>G (p.Thr97Ser)
c.-69+1831C>G (n.-69+1831C>G)
10g.49611030C>TCA5496737CHAT,SLC18A3c.290C>T (p.Thr97Ile)
c.-69+1831C>T (n.-69+1831C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611031C>ACA469791223CHAT,SLC18A3c.291C>A (p.Thr97=)
c.-69+1832C>A (n.-69+1832C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611031C=CA1908792753CHAT,SLC18A3c.291C= (p.Thr97=)
c.-69+1832C= (n.-69+1832C=)
10g.49611031C>GCA469791222CHAT,SLC18A3c.291C>G (p.Thr97=)
c.-69+1832C>G (n.-69+1832C>G)
10g.49611031C>TCA469791221CHAT,SLC18A3c.291C>T (p.Thr97=)
c.-69+1832C>T (n.-69+1832C>T)
 dbSNP gnomAD v4
10g.49611032T>ACA376718131CHAT,SLC18A3c.292T>A (p.Ser98Thr)
c.-69+1833T>A (n.-69+1833T>A)
10g.49611032T>CCA376718126CHAT,SLC18A3c.292T>C (p.Ser98Pro)
c.-69+1833T>C (n.-69+1833T>C)
 dbSNP gnomAD v4
10g.49611032T>GCA376718129CHAT,SLC18A3c.292T>G (p.Ser98Ala)
c.-69+1833T>G (n.-69+1833T>G)
10g.49611032T=CA1908792760CHAT,SLC18A3c.292T= (p.Ser98=)
c.-69+1833T= (n.-69+1833T=)
10g.49611033C>ACA376718134CHAT,SLC18A3c.293C>A (p.Ser98Ter)
c.-69+1834C>A (n.-69+1834C>A)
10g.49611033C=CA1908792763CHAT,SLC18A3c.293C= (p.Ser98=)
c.-69+1834C= (n.-69+1834C=)
10g.49611033C>GCA376718137CHAT,SLC18A3c.293C>G (p.Ser98Trp)
c.-69+1834C>G (n.-69+1834C>G)
10g.49611033C>TCA376718139CHAT,SLC18A3c.293C>T (p.Ser98Leu)
c.-69+1834C>T (n.-69+1834C>T)
 dbSNP
10g.49611034G>ACA469791042CHAT,SLC18A3c.294G>A (p.Ser98=)
c.-69+1835G>A (n.-69+1835G>A)
 gnomAD v4
10g.49611034G>CCA469791041CHAT,SLC18A3c.294G>C (p.Ser98=)
c.-69+1835G>C (n.-69+1835G>C)
10g.49611034G=CA1908792768CHAT,SLC18A3c.294G= (p.Ser98=)
c.-69+1835G= (n.-69+1835G=)
10g.49611034G>TCA469791040CHAT,SLC18A3c.294G>T (p.Ser98=)
c.-69+1835G>T (n.-69+1835G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611035G>ACA376718147CHAT,SLC18A3c.295G>A (p.Ala99Thr)
c.-69+1836G>A (n.-69+1836G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611035G>CCA376718144CHAT,SLC18A3c.295G>C (p.Ala99Pro)
c.-69+1836G>C (n.-69+1836G>C)
 COSMIC
10g.49611035G=CA1908792772CHAT,SLC18A3c.295G= (p.Ala99=)
c.-69+1836G= (n.-69+1836G=)
10g.49611035G>TCA376718142CHAT,SLC18A3c.295G>T (p.Ala99Ser)
c.-69+1836G>T (n.-69+1836G>T)
10g.49611036C>ACA376718150CHAT,SLC18A3c.296C>A (p.Ala99Glu)
c.-69+1837C>A (n.-69+1837C>A)
10g.49611036C=CA1908792776CHAT,SLC18A3c.296C= (p.Ala99=)
c.-69+1837C= (n.-69+1837C=)
10g.49611036C>GCA5496738CHAT,SLC18A3c.296C>G (p.Ala99Gly)
c.-69+1837C>G (n.-69+1837C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611036C>TCA376718154CHAT,SLC18A3c.296C>T (p.Ala99Val)
c.-69+1837C>T (n.-69+1837C>T)
 dbSNP gnomAD v4 COSMIC
10g.49611037G>ACA469791045CHAT,SLC18A3c.297G>A (p.Ala99=)
c.-69+1838G>A (n.-69+1838G>A)
 dbSNP COSMIC
10g.49611037G>CCA469791044CHAT,SLC18A3c.297G>C (p.Ala99=)
c.-69+1838G>C (n.-69+1838G>C)
10g.49611037G=CA1908792785CHAT,SLC18A3c.297G= (p.Ala99=)
c.-69+1838G= (n.-69+1838G=)
10g.49611037G>TCA469791046CHAT,SLC18A3c.297G>T (p.Ala99=)
c.-69+1838G>T (n.-69+1838G>T)
 gnomAD v4
10g.49611038T>ACA376718156CHAT,SLC18A3c.298T>A (p.Ser100Thr)
c.-69+1839T>A (n.-69+1839T>A)
10g.49611038T>CCA376718157CHAT,SLC18A3c.298T>C (p.Ser100Pro)
c.-69+1839T>C (n.-69+1839T>C)
 gnomAD v4
10g.49611038T>GCA376718158CHAT,SLC18A3c.298T>G (p.Ser100Ala)
c.-69+1839T>G (n.-69+1839T>G)
10g.49611039C>ACA206620918CHAT,SLC18A3c.299C>A (p.Ser100Tyr)
c.-69+1840C>A (n.-69+1840C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611039C=CA1908792792CHAT,SLC18A3c.299C= (p.Ser100=)
c.-69+1840C= (n.-69+1840C=)
10g.49611039C>GCA376718160CHAT,SLC18A3c.299C>G (p.Ser100Cys)
c.-69+1840C>G (n.-69+1840C>G)
10g.49611039C>TCA376718159CHAT,SLC18A3c.299C>T (p.Ser100Phe)
c.-69+1840C>T (n.-69+1840C>T)
 gnomAD v4
10g.49611040C>ACA469791052CHAT,SLC18A3c.300C>A (p.Ser100=)
c.-69+1841C>A (n.-69+1841C>A)
10g.49611040C=CA1908792798CHAT,SLC18A3c.300C= (p.Ser100=)
c.-69+1841C= (n.-69+1841C=)
10g.49611040C>GCA469791050CHAT,SLC18A3c.300C>G (p.Ser100=)
c.-69+1841C>G (n.-69+1841C>G)
10g.49611040C>TCA469791051CHAT,SLC18A3c.300C>T (p.Ser100=)
c.-69+1841C>T (n.-69+1841C>T)
 dbSNP
10g.49611041C>ACA376718161CHAT,SLC18A3c.301C>A (p.Pro101Thr)
c.-69+1842C>A (n.-69+1842C>A)
10g.49611041C>GCA376718162CHAT,SLC18A3c.301C>G (p.Pro101Ala)
c.-69+1842C>G (n.-69+1842C>G)
10g.49611041C>TCA376718163CHAT,SLC18A3c.301C>T (p.Pro101Ser)
c.-69+1842C>T (n.-69+1842C>T)
 gnomAD v4
10g.49611042C>ACA376718164CHAT,SLC18A3c.302C>A (p.Pro101Gln)
c.-69+1843C>A (n.-69+1843C>A)
10g.49611042C=CA1908792800CHAT,SLC18A3c.302C= (p.Pro101=)
c.-69+1843C= (n.-69+1843C=)
10g.49611042C>GCA376718165CHAT,SLC18A3c.302C>G (p.Pro101Arg)
c.-69+1843C>G (n.-69+1843C>G)
10g.49611042C>TCA5496739CHAT,SLC18A3c.302C>T (p.Pro101Leu)
c.-69+1843C>T (n.-69+1843C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611043G>ACA469791056CHAT,SLC18A3c.303G>A (p.Pro101=)
c.-69+1844G>A (n.-69+1844G>A)
 gnomAD v4
10g.49611043G>CCA469791057CHAT,SLC18A3c.303G>C (p.Pro101=)
c.-69+1844G>C (n.-69+1844G>C)
10g.49611043G=CA1908792804CHAT,SLC18A3c.303G= (p.Pro101=)
c.-69+1844G= (n.-69+1844G=)
10g.49611043G>TCA469791058CHAT,SLC18A3c.303G>T (p.Pro101=)
c.-69+1844G>T (n.-69+1844G>T)
 dbSNP
10g.49611044A>CCA376718166CHAT,SLC18A3c.304A>C (p.Thr102Pro)
c.-69+1845A>C (n.-69+1845A>C)
10g.49611044A>GCA376718167CHAT,SLC18A3c.304A>G (p.Thr102Ala)
c.-69+1845A>G (n.-69+1845A>G)
10g.49611044A>TCA376718168CHAT,SLC18A3c.304A>T (p.Thr102Ser)
c.-69+1845A>T (n.-69+1845A>T)
10g.49611045C>ACA376718169CHAT,SLC18A3c.305C>A (p.Thr102Lys)
c.-69+1846C>A (n.-69+1846C>A)
 dbSNP gnomAD v2
10g.49611045C=CA1908792807CHAT,SLC18A3c.305C= (p.Thr102=)
c.-69+1846C= (n.-69+1846C=)
10g.49611045C>GCA376718170CHAT,SLC18A3c.305C>G (p.Thr102Arg)
c.-69+1846C>G (n.-69+1846C>G)
10g.49611045C>TCA376718171CHAT,SLC18A3c.305C>T (p.Thr102Ile)
c.-69+1846C>T (n.-69+1846C>T)
10g.49611046A>CCA469791067CHAT,SLC18A3c.306A>C (p.Thr102=)
c.-69+1847A>C (n.-69+1847A>C)
10g.49611046A>GCA469791063CHAT,SLC18A3c.306A>G (p.Thr102=)
c.-69+1847A>G (n.-69+1847A>G)
10g.49611046A>TCA469791065CHAT,SLC18A3c.306A>T (p.Thr102=)
c.-69+1847A>T (n.-69+1847A>T)
10g.49611047G>ACA376718174CHAT,SLC18A3c.307G>A (p.Ala103Thr)
c.-69+1848G>A (n.-69+1848G>A)
10g.49611047G>CCA376718173CHAT,SLC18A3c.307G>C (p.Ala103Pro)
c.-69+1848G>C (n.-69+1848G>C)
 dbSNP
10g.49611047G>TCA376718172CHAT,SLC18A3c.307G>T (p.Ala103Ser)
c.-69+1848G>T (n.-69+1848G>T)
10g.49611048C>ACA376718175CHAT,SLC18A3c.308C>A (p.Ala103Asp)
c.-69+1849C>A (n.-69+1849C>A)
10g.49611048C>GCA376718176CHAT,SLC18A3c.308C>G (p.Ala103Gly)
c.-69+1849C>G (n.-69+1849C>G)
10g.49611048C>TCA376718177CHAT,SLC18A3c.308C>T (p.Ala103Val)
c.-69+1849C>T (n.-69+1849C>T)
10g.49611049T>ACA469791069CHAT,SLC18A3c.309T>A (p.Ala103=)
c.-69+1850T>A (n.-69+1850T>A)
10g.49611049T>CCA469791071CHAT,SLC18A3c.309T>C (p.Ala103=)
c.-69+1850T>C (n.-69+1850T>C)
10g.49611049T>GCA469791070CHAT,SLC18A3c.309T>G (p.Ala103=)
c.-69+1850T>G (n.-69+1850T>G)
10g.49611050G>ACA5496740CHAT,SLC18A3c.310G>A (p.Ala104Thr)
c.-69+1851G>A (n.-69+1851G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611050G>CCA376718178CHAT,SLC18A3c.310G>C (p.Ala104Pro)
c.-69+1851G>C (n.-69+1851G>C)
10g.49611050G=CA1908792808CHAT,SLC18A3c.310G= (p.Ala104=)
c.-69+1851G= (n.-69+1851G=)
10g.49611050G>TCA376718179CHAT,SLC18A3c.310G>T (p.Ala104Ser)
c.-69+1851G>T (n.-69+1851G>T)
10g.49611051C>ACA376718180CHAT,SLC18A3c.311C>A (p.Ala104Glu)
c.-69+1852C>A (n.-69+1852C>A)
 dbSNP gnomAD v4
10g.49611051C=CA1908792812CHAT,SLC18A3c.311C= (p.Ala104=)
c.-69+1852C= (n.-69+1852C=)
10g.49611051C>GCA376718181CHAT,SLC18A3c.311C>G (p.Ala104Gly)
c.-69+1852C>G (n.-69+1852C>G)
10g.49611051C>TCA5496741CHAT,SLC18A3c.311C>T (p.Ala104Val)
c.-69+1852C>T (n.-69+1852C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611052G>ACA5496742CHAT,SLC18A3c.312G>A (p.Ala104=)
c.-69+1853G>A (n.-69+1853G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611052G>CCA469791079CHAT,SLC18A3c.312G>C (p.Ala104=)
c.-69+1853G>C (n.-69+1853G>C)
10g.49611052G=CA1908792823CHAT,SLC18A3c.312G= (p.Ala104=)
c.-69+1853G= (n.-69+1853G=)
10g.49611052G>TCA469791075CHAT,SLC18A3c.312G>T (p.Ala104=)
c.-69+1853G>T (n.-69+1853G>T)
10g.49611053T>ACA376718182CHAT,SLC18A3c.313T>A (p.Trp105Arg)
c.-69+1854T>A (n.-69+1854T>A)
10g.49611053T>CCA376718183CHAT,SLC18A3c.313T>C (p.Trp105Arg)
c.-69+1854T>C (n.-69+1854T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611053T>GCA376718184CHAT,SLC18A3c.313T>G (p.Trp105Gly)
c.-69+1854T>G (n.-69+1854T>G)
10g.49611053T=CA1908792843CHAT,SLC18A3c.313T= (p.Trp105=)
c.-69+1854T= (n.-69+1854T=)
10g.49611054G>ACA376718187CHAT,SLC18A3c.314G>A (p.Trp105Ter)
c.-69+1855G>A (n.-69+1855G>A)
10g.49611054G>CCA376718186CHAT,SLC18A3c.314G>C (p.Trp105Ser)
c.-69+1855G>C (n.-69+1855G>C)
10g.49611054G>TCA376718185CHAT,SLC18A3c.314G>T (p.Trp105Leu)
c.-69+1855G>T (n.-69+1855G>T)
10g.49611055G>ACA376718188CHAT,SLC18A3c.315G>A (p.Trp105Ter)
c.-69+1856G>A (n.-69+1856G>A)
 gnomAD v4
10g.49611055G>CCA376718189CHAT,SLC18A3c.315G>C (p.Trp105Cys)
c.-69+1856G>C (n.-69+1856G>C)
10g.49611055G>TCA376718190CHAT,SLC18A3c.315G>T (p.Trp105Cys)
c.-69+1856G>T (n.-69+1856G>T)
10g.49611056C>ACA376718191CHAT,SLC18A3c.316C>A (p.Pro106Thr)
c.-69+1857C>A (n.-69+1857C>A)
10g.49611056C>GCA376718192CHAT,SLC18A3c.316C>G (p.Pro106Ala)
c.-69+1857C>G (n.-69+1857C>G)
10g.49611056C>TCA376718193CHAT,SLC18A3c.316C>T (p.Pro106Ser)
c.-69+1857C>T (n.-69+1857C>T)
10g.49611057C>ACA376718194CHAT,SLC18A3c.317C>A (p.Pro106Gln)
c.-69+1858C>A (n.-69+1858C>A)
10g.49611057C>GCA376718195CHAT,SLC18A3c.317C>G (p.Pro106Arg)
c.-69+1858C>G (n.-69+1858C>G)
10g.49611057C>TCA376718196CHAT,SLC18A3c.317C>T (p.Pro106Leu)
c.-69+1858C>T (n.-69+1858C>T)
 gnomAD v4 COSMIC
10g.49611058A=CA1908792847CHAT,SLC18A3c.318A= (p.Pro106=)
c.-69+1859A= (n.-69+1859A=)
10g.49611058A>CCA469791086CHAT,SLC18A3c.318A>C (p.Pro106=)
c.-69+1859A>C (n.-69+1859A>C)
10g.49611058A>GCA5496743CHAT,SLC18A3c.318A>G (p.Pro106=)
c.-69+1859A>G (n.-69+1859A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611058A>TCA469791087CHAT,SLC18A3c.318A>T (p.Pro106=)
c.-69+1859A>T (n.-69+1859A>T)
10g.49611059G>ACA376718197CHAT,SLC18A3c.319G>A (p.Ala107Thr)
c.-69+1860G>A (n.-69+1860G>A)
 gnomAD v4
10g.49611059G>CCA376718198CHAT,SLC18A3c.319G>C (p.Ala107Pro)
c.-69+1860G>C (n.-69+1860G>C)
 dbSNP gnomAD v4
10g.49611059G=CA1908792850CHAT,SLC18A3c.319G= (p.Ala107=)
c.-69+1860G= (n.-69+1860G=)
10g.49611059G>TCA376718199CHAT,SLC18A3c.319G>T (p.Ala107Ser)
c.-69+1860G>T (n.-69+1860G>T)
10g.49611060C>ACA5496744CHAT,SLC18A3c.320C>A (p.Ala107Glu)
c.-69+1861C>A (n.-69+1861C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611060C=CA1908792853CHAT,SLC18A3c.320C= (p.Ala107=)
c.-69+1861C= (n.-69+1861C=)
10g.49611060C>GCA376718201CHAT,SLC18A3c.320C>G (p.Ala107Gly)
c.-69+1861C>G (n.-69+1861C>G)
10g.49611060C>TCA376718200CHAT,SLC18A3c.320C>T (p.Ala107Val)
c.-69+1861C>T (n.-69+1861C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611061G>ACA5496745CHAT,SLC18A3c.321G>A (p.Ala107=)
c.-69+1862G>A (n.-69+1862G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611061G>CCA469791092CHAT,SLC18A3c.321G>C (p.Ala107=)
c.-69+1862G>C (n.-69+1862G>C)
10g.49611061G=CA1908792856CHAT,SLC18A3c.321G= (p.Ala107=)
c.-69+1862G= (n.-69+1862G=)
10g.49611061G>TCA469791094CHAT,SLC18A3c.321G>T (p.Ala107=)
c.-69+1862G>T (n.-69+1862G>T)
10g.49611062G>ACA376718202CHAT,SLC18A3c.322G>A (p.Gly108Ser)
c.-69+1863G>A (n.-69+1863G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611062G>CCA5496746CHAT,SLC18A3c.322G>C (p.Gly108Arg)
c.-69+1863G>C (n.-69+1863G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611062G=CA1908792862CHAT,SLC18A3c.322G= (p.Gly108=)
c.-69+1863G= (n.-69+1863G=)
10g.49611062G>TCA376718203CHAT,SLC18A3c.322G>T (p.Gly108Cys)
c.-69+1863G>T (n.-69+1863G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611063G>ACA376718204CHAT,SLC18A3c.323G>A (p.Gly108Asp)
c.-69+1864G>A (n.-69+1864G>A)
10g.49611063G>CCA376718205CHAT,SLC18A3c.323G>C (p.Gly108Ala)
c.-69+1864G>C (n.-69+1864G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611063G=CA1908792866CHAT,SLC18A3c.323G= (p.Gly108=)
c.-69+1864G= (n.-69+1864G=)
10g.49611063G>TCA376718206CHAT,SLC18A3c.323G>T (p.Gly108Val)
c.-69+1864G>T (n.-69+1864G>T)
10g.49611064C>ACA469791098CHAT,SLC18A3c.324C>A (p.Gly108=)
c.-69+1865C>A (n.-69+1865C>A)
10g.49611064C>GCA469791096CHAT,SLC18A3c.324C>G (p.Gly108=)
c.-69+1865C>G (n.-69+1865C>G)
10g.49611064C>TCA469791097CHAT,SLC18A3c.324C>T (p.Gly108=)
c.-69+1865C>T (n.-69+1865C>T)
10g.49611065T>ACA376718207CHAT,SLC18A3c.325T>A (p.Ser109Thr)
c.-69+1866T>A (n.-69+1866T>A)
10g.49611065T>CCA376718208CHAT,SLC18A3c.325T>C (p.Ser109Pro)
c.-69+1866T>C (n.-69+1866T>C)
 dbSNP
10g.49611065T>GCA376718209CHAT,SLC18A3c.325T>G (p.Ser109Ala)
c.-69+1866T>G (n.-69+1866T>G)
10g.49611065T=CA1908792871CHAT,SLC18A3c.325T= (p.Ser109=)
c.-69+1866T= (n.-69+1866T=)
10g.49611066C>ACA376718210CHAT,SLC18A3c.326C>A (p.Ser109Ter)
c.-69+1867C>A (n.-69+1867C>A)
 COSMIC
10g.49611066C=CA1908792874CHAT,SLC18A3c.326C= (p.Ser109=)
c.-69+1867C= (n.-69+1867C=)
10g.49611066C>GCA376718211CHAT,SLC18A3c.326C>G (p.Ser109Ter)
c.-69+1867C>G (n.-69+1867C>G)
10g.49611066C>TCA5496747CHAT,SLC18A3c.326C>T (p.Ser109Leu)
c.-69+1867C>T (n.-69+1867C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611067A>CCA469791104CHAT,SLC18A3c.327A>C (p.Ser109=)
c.-69+1868A>C (n.-69+1868A>C)
10g.49611067A>GCA469791103CHAT,SLC18A3c.327A>G (p.Ser109=)
c.-69+1868A>G (n.-69+1868A>G)
10g.49611067A>TCA469791102CHAT,SLC18A3c.327A>T (p.Ser109=)
c.-69+1868A>T (n.-69+1868A>T)
10g.49611068G>ACA5496748CHAT,SLC18A3c.328G>A (p.Ala110Thr)
c.-69+1869G>A (n.-69+1869G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611068G>CCA376718212CHAT,SLC18A3c.328G>C (p.Ala110Pro)
c.-69+1869G>C (n.-69+1869G>C)
10g.49611068G=CA1908792885CHAT,SLC18A3c.328G= (p.Ala110=)
c.-69+1869G= (n.-69+1869G=)
10g.49611068G>TCA376718213CHAT,SLC18A3c.328G>T (p.Ala110Ser)
c.-69+1869G>T (n.-69+1869G>T)
10g.49611068_49611069delinsGCCA1908792883CHAT,SLC18A3c.328_329delinsGC (p.Ala110=)
c.-69+1869_-69+1870delinsGC (n.-69+1869_-69+1870delinsGC)
10g.49611069C>ACA206620946CHAT,SLC18A3c.329C>A (p.Ala110Asp)
c.-69+1870C>A (n.-69+1870C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611069C=CA1908792894CHAT,SLC18A3c.329C= (p.Ala110=)
c.-69+1870C= (n.-69+1870C=)
10g.49611069C>GCA376718214CHAT,SLC18A3c.329C>G (p.Ala110Gly)
c.-69+1870C>G (n.-69+1870C>G)
10g.49611069C>TCA376718215CHAT,SLC18A3c.329C>T (p.Ala110Val)
c.-69+1870C>T (n.-69+1870C>T)
 gnomAD v4
10g.49611071delCA206620944CHAT,SLC18A3c.331del (p.Leu111PhefsTer12)
c.-69+1872del (n.-69+1872del)
 dbSNP
10g.49611070C>ACA469791109CHAT,SLC18A3c.330C>A (p.Ala110=)
c.-69+1871C>A (n.-69+1871C>A)
10g.49611070C>GCA469791108CHAT,SLC18A3c.330C>G (p.Ala110=)
c.-69+1871C>G (n.-69+1871C>G)
10g.49611070C>TCA469791110CHAT,SLC18A3c.330C>T (p.Ala110=)
c.-69+1871C>T (n.-69+1871C>T)
10g.49611071C>ACA376718216CHAT,SLC18A3c.331C>A (p.Leu111Ile)
c.-69+1872C>A (n.-69+1872C>A)
10g.49611071C=CA1908792898CHAT,SLC18A3c.331C= (p.Leu111=)
c.-69+1872C= (n.-69+1872C=)
10g.49611071C>GCA376718217CHAT,SLC18A3c.331C>G (p.Leu111Val)
c.-69+1872C>G (n.-69+1872C>G)
10g.49611071C>TCA376718218CHAT,SLC18A3c.331C>T (p.Leu111Phe)
c.-69+1872C>T (n.-69+1872C>T)
 dbSNP
10g.49611072T>ACA376718219CHAT,SLC18A3c.332T>A (p.Leu111His)
c.-69+1873T>A (n.-69+1873T>A)
10g.49611072T>CCA376718220CHAT,SLC18A3c.332T>C (p.Leu111Pro)
c.-69+1873T>C (n.-69+1873T>C)
10g.49611072T>GCA376718221CHAT,SLC18A3c.332T>G (p.Leu111Arg)
c.-69+1873T>G (n.-69+1873T>G)
10g.49611073T>ACA469791122CHAT,SLC18A3c.333T>A (p.Leu111=)
c.-69+1874T>A (n.-69+1874T>A)
10g.49611073T>CCA469791119CHAT,SLC18A3c.333T>C (p.Leu111=)
c.-69+1874T>C (n.-69+1874T>C)
10g.49611073T>GCA469791121CHAT,SLC18A3c.333T>G (p.Leu111=)
c.-69+1874T>G (n.-69+1874T>G)
10g.49611074C>ACA469791124CHAT,SLC18A3c.334C>A (p.Arg112=)
c.-69+1875C>A (n.-69+1875C>A)
10g.49611074C=CA1908792903CHAT,SLC18A3c.334C= (p.Arg112=)
c.-69+1875C= (n.-69+1875C=)
10g.49611074C>GCA376718222CHAT,SLC18A3c.334C>G (p.Arg112Gly)
c.-69+1875C>G (n.-69+1875C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611074C>TCA376718223CHAT,SLC18A3c.334C>T (p.Arg112Trp)
c.-69+1875C>T (n.-69+1875C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611075G>ACA376718224CHAT,SLC18A3c.335G>A (p.Arg112Gln)
c.-69+1876G>A (n.-69+1876G>A)
10g.49611075G>CCA376718226CHAT,SLC18A3c.335G>C (p.Arg112Pro)
c.-69+1876G>C (n.-69+1876G>C)
 gnomAD v4
10g.49611075G>TCA376718225CHAT,SLC18A3c.335G>T (p.Arg112Leu)
c.-69+1876G>T (n.-69+1876G>T)
10g.49611076G>ACA469791131CHAT,SLC18A3c.336G>A (p.Arg112=)
c.-69+1877G>A (n.-69+1877G>A)
 gnomAD v4
10g.49611076G>CCA469791130CHAT,SLC18A3c.336G>C (p.Arg112=)
c.-69+1877G>C (n.-69+1877G>C)
10g.49611076G=CA1908792907CHAT,SLC18A3c.336G= (p.Arg112=)
c.-69+1877G= (n.-69+1877G=)
10g.49611076G>TCA206620949CHAT,SLC18A3c.336G>T (p.Arg112=)
c.-69+1877G>T (n.-69+1877G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611077C>ACA376718228CHAT,SLC18A3c.337C>A (p.Pro113Thr)
c.-69+1878C>A (n.-69+1878C>A)
10g.49611077C=CA1908792913CHAT,SLC18A3c.337C= (p.Pro113=)
c.-69+1878C= (n.-69+1878C=)
10g.49611077C>GCA376718227CHAT,SLC18A3c.337C>G (p.Pro113Ala)
c.-69+1878C>G (n.-69+1878C>G)
10g.49611077C>TCA376718229CHAT,SLC18A3c.337C>T (p.Pro113Ser)
c.-69+1878C>T (n.-69+1878C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611078_49611103dupCA2609115060CHAT,SLC18A3c.338_363dup (p.Val122ProfsTer10)
c.-69+1879_-69+1904dup (n.-69+1879_-69+1904dup)
 gnomAD v4
10g.49611078C>ACA376718230CHAT,SLC18A3c.338C>A (p.Pro113His)
c.-69+1879C>A (n.-69+1879C>A)
 gnomAD v4
10g.49611078C>GCA376718231CHAT,SLC18A3c.338C>G (p.Pro113Arg)
c.-69+1879C>G (n.-69+1879C>G)
10g.49611078C>TCA376718232CHAT,SLC18A3c.338C>T (p.Pro113Leu)
c.-69+1879C>T (n.-69+1879C>T)
10g.49611079C>ACA469791140CHAT,SLC18A3c.339C>A (p.Pro113=)
c.-69+1880C>A (n.-69+1880C>A)
10g.49611079C>GCA469791138CHAT,SLC18A3c.339C>G (p.Pro113=)
c.-69+1880C>G (n.-69+1880C>G)
10g.49611079C>TCA469791139CHAT,SLC18A3c.339C>T (p.Pro113=)
c.-69+1880C>T (n.-69+1880C>T)
10g.49611080C>ACA376718233CHAT,SLC18A3c.340C>A (p.Arg114Ser)
c.-69+1881C>A (n.-69+1881C>A)
10g.49611080C=CA1908792918CHAT,SLC18A3c.340C= (p.Arg114=)
c.-69+1881C= (n.-69+1881C=)
10g.49611080C>GCA376718234CHAT,SLC18A3c.340C>G (p.Arg114Gly)
c.-69+1881C>G (n.-69+1881C>G)
10g.49611080C>TCA376718235CHAT,SLC18A3c.340C>T (p.Arg114Cys)
c.-69+1881C>T (n.-69+1881C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611081G>ACA376718236CHAT,SLC18A3c.341G>A (p.Arg114His)
c.-69+1882G>A (n.-69+1882G>A)
 gnomAD v4
10g.49611081G>CCA376718237CHAT,SLC18A3c.341G>C (p.Arg114Pro)
c.-69+1882G>C (n.-69+1882G>C)
10g.49611081G=CA1908792922CHAT,SLC18A3c.341G= (p.Arg114=)
c.-69+1882G= (n.-69+1882G=)
10g.49611081G>TCA376718238CHAT,SLC18A3c.341G>T (p.Arg114Leu)
c.-69+1882G>T (n.-69+1882G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611082C>ACA469791149CHAT,SLC18A3c.342C>A (p.Arg114=)
c.-69+1883C>A (n.-69+1883C>A)
10g.49611082C>GCA469791153CHAT,SLC18A3c.342C>G (p.Arg114=)
c.-69+1883C>G (n.-69+1883C>G)
10g.49611082C>TCA469791151CHAT,SLC18A3c.342C>T (p.Arg114=)
c.-69+1883C>T (n.-69+1883C>T)
10g.49611083T>ACA376718239CHAT,SLC18A3c.343T>A (p.Tyr115Asn)
c.-69+1884T>A (n.-69+1884T>A)
10g.49611083T>CCA376718240CHAT,SLC18A3c.343T>C (p.Tyr115His)
c.-69+1884T>C (n.-69+1884T>C)
10g.49611083T>GCA376718241CHAT,SLC18A3c.343T>G (p.Tyr115Asp)
c.-69+1884T>G (n.-69+1884T>G)
10g.49611084A>CCA376718244CHAT,SLC18A3c.344A>C (p.Tyr115Ser)
c.-69+1885A>C (n.-69+1885A>C)
10g.49611084A>GCA376718242CHAT,SLC18A3c.344A>G (p.Tyr115Cys)
c.-69+1885A>G (n.-69+1885A>G)
10g.49611084A>TCA376718243CHAT,SLC18A3c.344A>T (p.Tyr115Phe)
c.-69+1885A>T (n.-69+1885A>T)
10g.49611084_49611085delinsACCA1908792925CHAT,SLC18A3c.344_345delinsAC (p.Tyr115=)
c.-69+1885_-69+1886delinsAC (n.-69+1885_-69+1886delinsAC)
10g.49611085C>ACA376718245CHAT,SLC18A3c.345C>A (p.Tyr115Ter)
c.-69+1886C>A (n.-69+1886C>A)
10g.49611085C>GCA376718246CHAT,SLC18A3c.345C>G (p.Tyr115Ter)
c.-69+1886C>G (n.-69+1886C>G)
10g.49611085C>TCA469791157CHAT,SLC18A3c.345C>T (p.Tyr115=)
c.-69+1886C>T (n.-69+1886C>T)
10g.49611087delCA658657960CHAT,SLC18A3c.347del (p.Pro116LeufsTer7)
c.-69+1888del (n.-69+1888del)
 ClinVar dbSNP
10g.49611086C>ACA376718247CHAT,SLC18A3c.346C>A (p.Pro116Thr)
c.-69+1887C>A (n.-69+1887C>A)
 COSMIC
10g.49611086C>GCA376718248CHAT,SLC18A3c.346C>G (p.Pro116Ala)
c.-69+1887C>G (n.-69+1887C>G)
10g.49611086C>TCA376718249CHAT,SLC18A3c.346C>T (p.Pro116Ser)
c.-69+1887C>T (n.-69+1887C>T)
 gnomAD v4
10g.49611087C>ACA376718250CHAT,SLC18A3c.347C>A (p.Pro116His)
c.-69+1888C>A (n.-69+1888C>A)
10g.49611087C=CA1908792936CHAT,SLC18A3c.347C= (p.Pro116=)
c.-69+1888C= (n.-69+1888C=)
10g.49611087C>GCA376718251CHAT,SLC18A3c.347C>G (p.Pro116Arg)
c.-69+1888C>G (n.-69+1888C>G)
10g.49611087C>TCA5496749CHAT,SLC18A3c.347C>T (p.Pro116Leu)
c.-69+1888C>T (n.-69+1888C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611088T>ACA469791170CHAT,SLC18A3c.348T>A (p.Pro116=)
c.-69+1889T>A (n.-69+1889T>A)
10g.49611088T>CCA469791166CHAT,SLC18A3c.348T>C (p.Pro116=)
c.-69+1889T>C (n.-69+1889T>C)
10g.49611088T>GCA469791164CHAT,SLC18A3c.348T>G (p.Pro116=)
c.-69+1889T>G (n.-69+1889T>G)
10g.49611089A=CA1908792942CHAT,SLC18A3c.349A= (p.Thr117=)
c.-69+1890A= (n.-69+1890A=)
10g.49611089A>CCA376718252CHAT,SLC18A3c.349A>C (p.Thr117Pro)
c.-69+1890A>C (n.-69+1890A>C)
10g.49611089A>GCA5496750CHAT,SLC18A3c.349A>G (p.Thr117Ala)
c.-69+1890A>G (n.-69+1890A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611089A>TCA376718253CHAT,SLC18A3c.349A>T (p.Thr117Ser)
c.-69+1890A>T (n.-69+1890A>T)
10g.49611090C>ACA376718255CHAT,SLC18A3c.350C>A (p.Thr117Lys)
c.-69+1891C>A (n.-69+1891C>A)
10g.49611090C=CA1908792945CHAT,SLC18A3c.350C= (p.Thr117=)
c.-69+1891C= (n.-69+1891C=)
10g.49611090C>GCA376718254CHAT,SLC18A3c.350C>G (p.Thr117Arg)
c.-69+1891C>G (n.-69+1891C>G)
10g.49611090C>TCA5496751CHAT,SLC18A3c.350C>T (p.Thr117Met)
c.-69+1891C>T (n.-69+1891C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611091G>ACA469791178CHAT,SLC18A3c.351G>A (p.Thr117=)
c.-69+1892G>A (n.-69+1892G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611091G>CCA469791176CHAT,SLC18A3c.351G>C (p.Thr117=)
c.-69+1892G>C (n.-69+1892G>C)
10g.49611091G=CA1908792949CHAT,SLC18A3c.351G= (p.Thr117=)
c.-69+1892G= (n.-69+1892G=)
10g.49611091G>TCA469791177CHAT,SLC18A3c.351G>T (p.Thr117=)
c.-69+1892G>T (n.-69+1892G>T)
10g.49611092G>ACA376718256CHAT,SLC18A3c.352G>A (p.Glu118Lys)
c.-69+1893G>A (n.-69+1893G>A)
 COSMIC
10g.49611092G>CCA376718257CHAT,SLC18A3c.352G>C (p.Glu118Gln)
c.-69+1893G>C (n.-69+1893G>C)
10g.49611092G>TCA376718258CHAT,SLC18A3c.352G>T (p.Glu118Ter)
c.-69+1893G>T (n.-69+1893G>T)
10g.49611093A>CCA376718259CHAT,SLC18A3c.353A>C (p.Glu118Ala)
c.-69+1894A>C (n.-69+1894A>C)
10g.49611093A>GCA376718260CHAT,SLC18A3c.353A>G (p.Glu118Gly)
c.-69+1894A>G (n.-69+1894A>G)
10g.49611093A>TCA376718261CHAT,SLC18A3c.353A>T (p.Glu118Val)
c.-69+1894A>T (n.-69+1894A>T)
10g.49611094G>ACA469791185CHAT,SLC18A3c.354G>A (p.Glu118=)
c.-69+1895G>A (n.-69+1895G>A)
10g.49611094G>CCA376718262CHAT,SLC18A3c.354G>C (p.Glu118Asp)
c.-69+1895G>C (n.-69+1895G>C)
10g.49611094G>TCA376718263CHAT,SLC18A3c.354G>T (p.Glu118Asp)
c.-69+1895G>T (n.-69+1895G>T)
10g.49611095A>CCA376718264CHAT,SLC18A3c.355A>C (p.Ser119Arg)
c.-69+1896A>C (n.-69+1896A>C)
10g.49611095A>GCA376718265CHAT,SLC18A3c.355A>G (p.Ser119Gly)
c.-69+1896A>G (n.-69+1896A>G)
10g.49611095A>TCA376718266CHAT,SLC18A3c.355A>T (p.Ser119Cys)
c.-69+1896A>T (n.-69+1896A>T)
10g.49611096G>ACA376718267CHAT,SLC18A3c.356G>A (p.Ser119Asn)
c.-69+1897G>A (n.-69+1897G>A)
10g.49611096G>CCA376718268CHAT,SLC18A3c.356G>C (p.Ser119Thr)
c.-69+1897G>C (n.-69+1897G>C)
10g.49611096G>TCA376718269CHAT,SLC18A3c.356G>T (p.Ser119Ile)
c.-69+1897G>T (n.-69+1897G>T)
10g.49611097C>ACA376718270CHAT,SLC18A3c.357C>A (p.Ser119Arg)
c.-69+1898C>A (n.-69+1898C>A)
 gnomAD v4
10g.49611097C>GCA376718271CHAT,SLC18A3c.357C>G (p.Ser119Arg)
c.-69+1898C>G (n.-69+1898C>G)
10g.49611097C>TCA469791193CHAT,SLC18A3c.357C>T (p.Ser119=)
c.-69+1898C>T (n.-69+1898C>T)
 gnomAD v4 COSMIC
10g.49611098G>ACA376718272CHAT,SLC18A3c.358G>A (p.Glu120Lys)
c.-69+1899G>A (n.-69+1899G>A)
10g.49611098G>CCA376718273CHAT,SLC18A3c.358G>C (p.Glu120Gln)
c.-69+1899G>C (n.-69+1899G>C)
10g.49611098G=CA1908792965CHAT,SLC18A3c.358G= (p.Glu120=)
c.-69+1899G= (n.-69+1899G=)
10g.49611098G>TCA376718274CHAT,SLC18A3c.358G>T (p.Glu120Ter)
c.-69+1899G>T (n.-69+1899G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611099A>CCA376718275CHAT,SLC18A3c.359A>C (p.Glu120Ala)
c.-69+1900A>C (n.-69+1900A>C)
10g.49611099A>GCA376718276CHAT,SLC18A3c.359A>G (p.Glu120Gly)
c.-69+1900A>G (n.-69+1900A>G)
10g.49611099A>TCA376718277CHAT,SLC18A3c.359A>T (p.Glu120Val)
c.-69+1900A>T (n.-69+1900A>T)
10g.49611100A>CCA376718278CHAT,SLC18A3c.360A>C (p.Glu120Asp)
c.-69+1901A>C (n.-69+1901A>C)
10g.49611100A>GCA469791199CHAT,SLC18A3c.360A>G (p.Glu120=)
c.-69+1901A>G (n.-69+1901A>G)
10g.49611100A>TCA376718279CHAT,SLC18A3c.360A>T (p.Glu120Asp)
c.-69+1901A>T (n.-69+1901A>T)
10g.49611101G>ACA376718280CHAT,SLC18A3c.361G>A (p.Asp121Asn)
c.-69+1902G>A (n.-69+1902G>A)
10g.49611101G>CCA376718281CHAT,SLC18A3c.361G>C (p.Asp121His)
c.-69+1902G>C (n.-69+1902G>C)
10g.49611101G>TCA376718282CHAT,SLC18A3c.361G>T (p.Asp121Tyr)
c.-69+1902G>T (n.-69+1902G>T)
10g.49611102A>CCA376718285CHAT,SLC18A3c.362A>C (p.Asp121Ala)
c.-69+1903A>C (n.-69+1903A>C)
10g.49611102A>GCA376718284CHAT,SLC18A3c.362A>G (p.Asp121Gly)
c.-69+1903A>G (n.-69+1903A>G)
10g.49611102A>TCA376718283CHAT,SLC18A3c.362A>T (p.Asp121Val)
c.-69+1903A>T (n.-69+1903A>T)
10g.49611103C>ACA376718286CHAT,SLC18A3c.363C>A (p.Asp121Glu)
c.-69+1904C>A (n.-69+1904C>A)
 dbSNP gnomAD v4
10g.49611103C=CA1908792969CHAT,SLC18A3c.363C= (p.Asp121=)
c.-69+1904C= (n.-69+1904C=)
10g.49611103C>GCA376718287CHAT,SLC18A3c.363C>G (p.Asp121Glu)
c.-69+1904C>G (n.-69+1904C>G)
10g.49611103C>TCA469791205CHAT,SLC18A3c.363C>T (p.Asp121=)
c.-69+1904C>T (n.-69+1904C>T)
 gnomAD v4
10g.49611104G>ACA376718288CHAT,SLC18A3c.364G>A (p.Val122Met)
c.-69+1905G>A (n.-69+1905G>A)
10g.49611104G>CCA376718289CHAT,SLC18A3c.364G>C (p.Val122Leu)
c.-69+1905G>C (n.-69+1905G>C)
 gnomAD v4
10g.49611104G=CA1908792974CHAT,SLC18A3c.364G= (p.Val122=)
c.-69+1905G= (n.-69+1905G=)
10g.49611104G>TCA376718290CHAT,SLC18A3c.364G>T (p.Val122Leu)
c.-69+1905G>T (n.-69+1905G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611105T>ACA376718291CHAT,SLC18A3c.365T>A (p.Val122Glu)
c.-69+1906T>A (n.-69+1906T>A)
 COSMIC
10g.49611105T>CCA376718292CHAT,SLC18A3c.365T>C (p.Val122Ala)
c.-69+1906T>C (n.-69+1906T>C)
 gnomAD v4
10g.49611105T>GCA376718293CHAT,SLC18A3c.365T>G (p.Val122Gly)
c.-69+1906T>G (n.-69+1906T>G)
10g.49611106G>ACA469791214CHAT,SLC18A3c.366G>A (p.Val122=)
c.-69+1907G>A (n.-69+1907G>A)
10g.49611106G>CCA469791213CHAT,SLC18A3c.366G>C (p.Val122=)
c.-69+1907G>C (n.-69+1907G>C)
10g.49611106G>TCA469791212CHAT,SLC18A3c.366G>T (p.Val122=)
c.-69+1907G>T (n.-69+1907G>T)
10g.49611107A>CCA376718296CHAT,SLC18A3c.367A>C (p.Lys123Gln)
c.-69+1908A>C (n.-69+1908A>C)
 gnomAD v4
10g.49611107A>GCA376718294CHAT,SLC18A3c.367A>G (p.Lys123Glu)
c.-69+1908A>G (n.-69+1908A>G)
10g.49611107A>TCA376718295CHAT,SLC18A3c.367A>T (p.Lys123Ter)
c.-69+1908A>T (n.-69+1908A>T)
10g.49611108A>CCA376718297CHAT,SLC18A3c.368A>C (p.Lys123Thr)
c.-69+1909A>C (n.-69+1909A>C)
10g.49611108A>GCA376718298CHAT,SLC18A3c.368A>G (p.Lys123Arg)
c.-69+1909A>G (n.-69+1909A>G)
10g.49611108A>TCA376718299CHAT,SLC18A3c.368A>T (p.Lys123Met)
c.-69+1909A>T (n.-69+1909A>T)
10g.49611109G>ACA469791218CHAT,SLC18A3c.369G>A (p.Lys123=)
c.-69+1910G>A (n.-69+1910G>A)
 gnomAD v4
10g.49611109G>CCA376718300CHAT,SLC18A3c.369G>C (p.Lys123Asn)
c.-69+1910G>C (n.-69+1910G>C)
10g.49611109G>TCA376718301CHAT,SLC18A3c.369G>T (p.Lys123Asn)
c.-69+1910G>T (n.-69+1910G>T)
 gnomAD v4
10g.49611110A>CCA376718302CHAT,SLC18A3c.370A>C (p.Ile124Leu)
c.-69+1911A>C (n.-69+1911A>C)
10g.49611110A>GCA376718304CHAT,SLC18A3c.370A>G (p.Ile124Val)
c.-69+1911A>G (n.-69+1911A>G)
 gnomAD v4
10g.49611110A>TCA376718303CHAT,SLC18A3c.370A>T (p.Ile124Phe)
c.-69+1911A>T (n.-69+1911A>T)
 COSMIC
10g.49611111T>ACA376718305CHAT,SLC18A3c.371T>A (p.Ile124Asn)
c.-69+1912T>A (n.-69+1912T>A)
10g.49611111T>CCA5496752CHAT,SLC18A3c.371T>C (p.Ile124Thr)
c.-69+1912T>C (n.-69+1912T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.49611111T>GCA376718306CHAT,SLC18A3c.371T>G (p.Ile124Ser)
c.-69+1912T>G (n.-69+1912T>G)
 COSMIC
10g.49611111T=CA1908792977CHAT,SLC18A3c.371T= (p.Ile124=)
c.-69+1912T= (n.-69+1912T=)
10g.49611112C>ACA469791224CHAT,SLC18A3c.372C>A (p.Ile124=)
c.-69+1913C>A (n.-69+1913C>A)
10g.49611112C=CA1908792981CHAT,SLC18A3c.372C= (p.Ile124=)
c.-69+1913C= (n.-69+1913C=)
10g.49611112C>GCA376718307CHAT,SLC18A3c.372C>G (p.Ile124Met)
c.-69+1913C>G (n.-69+1913C>G)
10g.49611112C>TCA206620963CHAT,SLC18A3c.372C>T (p.Ile124=)
c.-69+1913C>T (n.-69+1913C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611113G>ACA376718308CHAT,SLC18A3c.373G>A (p.Gly125Arg)
c.-69+1914G>A (n.-69+1914G>A)
 gnomAD v4
10g.49611113G>CCA376718309CHAT,SLC18A3c.373G>C (p.Gly125Arg)
c.-69+1914G>C (n.-69+1914G>C)
10g.49611113G>TCA376718310CHAT,SLC18A3c.373G>T (p.Gly125Trp)
c.-69+1914G>T (n.-69+1914G>T)
 COSMIC
10g.49611114G>ACA376718311CHAT,SLC18A3c.374G>A (p.Gly125Glu)
c.-69+1915G>A (n.-69+1915G>A)
10g.49611114G>CCA376718312CHAT,SLC18A3c.374G>C (p.Gly125Ala)
c.-69+1915G>C (n.-69+1915G>C)
10g.49611114G>TCA376718313CHAT,SLC18A3c.374G>T (p.Gly125Val)
c.-69+1915G>T (n.-69+1915G>T)
10g.49611115G>ACA469791228CHAT,SLC18A3c.375G>A (p.Gly125=)
c.-69+1916G>A (n.-69+1916G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611115G>CCA469791229CHAT,SLC18A3c.375G>C (p.Gly125=)
c.-69+1916G>C (n.-69+1916G>C)
10g.49611115G=CA1908792986CHAT,SLC18A3c.375G= (p.Gly125=)
c.-69+1916G= (n.-69+1916G=)
10g.49611115G>TCA469791227CHAT,SLC18A3c.375G>T (p.Gly125=)
c.-69+1916G>T (n.-69+1916G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611116G>ACA376718316CHAT,SLC18A3c.376G>A (p.Val126Met)
c.-69+1917G>A (n.-69+1917G>A)
10g.49611116G>CCA376718315CHAT,SLC18A3c.376G>C (p.Val126Leu)
c.-69+1917G>C (n.-69+1917G>C)
10g.49611116G>TCA376718314CHAT,SLC18A3c.376G>T (p.Val126Leu)
c.-69+1917G>T (n.-69+1917G>T)
10g.49611117T>ACA376718317CHAT,SLC18A3c.377T>A (p.Val126Glu)
c.-69+1918T>A (n.-69+1918T>A)
 gnomAD v4
10g.49611117T>CCA376718318CHAT,SLC18A3c.377T>C (p.Val126Ala)
c.-69+1918T>C (n.-69+1918T>C)
 gnomAD v4
10g.49611117T>GCA376718319CHAT,SLC18A3c.377T>G (p.Val126Gly)
c.-69+1918T>G (n.-69+1918T>G)
10g.49611118G>ACA5496753CHAT,SLC18A3c.378G>A (p.Val126=)
c.-69+1919G>A (n.-69+1919G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611118G>CCA469791233CHAT,SLC18A3c.378G>C (p.Val126=)
c.-69+1919G>C (n.-69+1919G>C)
10g.49611118G=CA1908792991CHAT,SLC18A3c.378G= (p.Val126=)
c.-69+1919G= (n.-69+1919G=)
10g.49611118G>TCA469791232CHAT,SLC18A3c.378G>T (p.Val126=)
c.-69+1919G>T (n.-69+1919G>T)
 dbSNP
10g.49611119C>ACA376718320CHAT,SLC18A3c.379C>A (p.Leu127Met)
c.-69+1920C>A (n.-69+1920C>A)
10g.49611119C=CA1908792999CHAT,SLC18A3c.379C= (p.Leu127=)
c.-69+1920C= (n.-69+1920C=)
10g.49611119C>GCA376718322CHAT,SLC18A3c.379C>G (p.Leu127Val)
c.-69+1920C>G (n.-69+1920C>G)
10g.49611119C>TCA5496754CHAT,SLC18A3c.379C>T (p.Leu127=)
c.-69+1920C>T (n.-69+1920C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611120T>ACA376718325CHAT,SLC18A3c.380T>A (p.Leu127Gln)
c.-69+1921T>A (n.-69+1921T>A)
10g.49611120T>CCA376718327CHAT,SLC18A3c.380T>C (p.Leu127Pro)
c.-69+1921T>C (n.-69+1921T>C)
10g.49611120T>GCA376718329CHAT,SLC18A3c.380T>G (p.Leu127Arg)
c.-69+1921T>G (n.-69+1921T>G)
10g.49611121G>ACA469791240CHAT,SLC18A3c.381G>A (p.Leu127=)
c.-69+1922G>A (n.-69+1922G>A)
 gnomAD v4
10g.49611121G>CCA469791241CHAT,SLC18A3c.381G>C (p.Leu127=)
c.-69+1922G>C (n.-69+1922G>C)
10g.49611121G>TCA469791239CHAT,SLC18A3c.381G>T (p.Leu127=)
c.-69+1922G>T (n.-69+1922G>T)
 dbSNP
10g.49611122T>ACA376718331CHAT,SLC18A3c.382T>A (p.Phe128Ile)
c.-69+1923T>A (n.-69+1923T>A)
10g.49611122T>CCA376718332CHAT,SLC18A3c.382T>C (p.Phe128Leu)
c.-69+1923T>C (n.-69+1923T>C)
10g.49611122T>GCA376718334CHAT,SLC18A3c.382T>G (p.Phe128Val)
c.-69+1923T>G (n.-69+1923T>G)
10g.49611123T>ACA376718338CHAT,SLC18A3c.383T>A (p.Phe128Tyr)
c.-69+1924T>A (n.-69+1924T>A)
10g.49611123T>CCA376718335CHAT,SLC18A3c.383T>C (p.Phe128Ser)
c.-69+1924T>C (n.-69+1924T>C)
 dbSNP
10g.49611123T>GCA376718337CHAT,SLC18A3c.383T>G (p.Phe128Cys)
c.-69+1924T>G (n.-69+1924T>G)
10g.49611123T=CA1908793003CHAT,SLC18A3c.383T= (p.Phe128=)
c.-69+1924T= (n.-69+1924T=)
10g.49611124T>ACA376718340CHAT,SLC18A3c.384T>A (p.Phe128Leu)
c.-69+1925T>A (n.-69+1925T>A)
10g.49611124T>CCA469791248CHAT,SLC18A3c.384T>C (p.Phe128=)
c.-69+1925T>C (n.-69+1925T>C)
10g.49611124T>GCA376718342CHAT,SLC18A3c.384T>G (p.Phe128Leu)
c.-69+1925T>G (n.-69+1925T>G)
10g.49611125G>ACA376718344CHAT,SLC18A3c.385G>A (p.Ala129Thr)
c.-69+1926G>A (n.-69+1926G>A)
10g.49611125G>CCA376718346CHAT,SLC18A3c.385G>C (p.Ala129Pro)
c.-69+1926G>C (n.-69+1926G>C)
10g.49611125G=CA1908793006CHAT,SLC18A3c.385G= (p.Ala129=)
c.-69+1926G= (n.-69+1926G=)
10g.49611125G>TCA5496755CHAT,SLC18A3c.385G>T (p.Ala129Ser)
c.-69+1926G>T (n.-69+1926G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611126C>ACA376718348CHAT,SLC18A3c.386C>A (p.Ala129Asp)
c.-69+1927C>A (n.-69+1927C>A)
10g.49611126C>GCA376718350CHAT,SLC18A3c.386C>G (p.Ala129Gly)
c.-69+1927C>G (n.-69+1927C>G)
10g.49611126C>TCA376718352CHAT,SLC18A3c.386C>T (p.Ala129Val)
c.-69+1927C>T (n.-69+1927C>T)
 gnomAD v4
10g.49611127T>ACA469791252CHAT,SLC18A3c.387T>A (p.Ala129=)
c.-69+1928T>A (n.-69+1928T>A)
10g.49611127T>CCA5496756CHAT,SLC18A3c.387T>C (p.Ala129=)
c.-69+1928T>C (n.-69+1928T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611127T>GCA469791251CHAT,SLC18A3c.387T>G (p.Ala129=)
c.-69+1928T>G (n.-69+1928T>G)
10g.49611127T=CA1908793014CHAT,SLC18A3c.387T= (p.Ala129=)
c.-69+1928T= (n.-69+1928T=)
10g.49611128T>ACA376718354CHAT,SLC18A3c.388T>A (p.Ser130Thr)
c.-69+1929T>A (n.-69+1929T>A)
10g.49611128T>CCA376718356CHAT,SLC18A3c.388T>C (p.Ser130Pro)
c.-69+1929T>C (n.-69+1929T>C)
10g.49611128T>GCA376718358CHAT,SLC18A3c.388T>G (p.Ser130Ala)
c.-69+1929T>G (n.-69+1929T>G)
10g.49611129C>ACA376718362CHAT,SLC18A3c.389C>A (p.Ser130Tyr)
c.-69+1930C>A (n.-69+1930C>A)
10g.49611129C>GCA376718364CHAT,SLC18A3c.389C>G (p.Ser130Cys)
c.-69+1930C>G (n.-69+1930C>G)
10g.49611129C>TCA376718361CHAT,SLC18A3c.389C>T (p.Ser130Phe)
c.-69+1930C>T (n.-69+1930C>T)
 COSMIC

Number of alleles fetched