Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611027A>C | CA376717020 | CHAT,SLC18A3 | c.287A>C (p.Asn96Thr) c.-69+1828A>C (n.-69+1828A>C) | |
10 | g.49611027A>G | CA376717021 | CHAT,SLC18A3 | c.287A>G (p.Asn96Ser) c.-69+1828A>G (n.-69+1828A>G) | |
10 | g.49611027A>T | CA376717022 | CHAT,SLC18A3 | c.287A>T (p.Asn96Ile) c.-69+1828A>T (n.-69+1828A>T) | |
10 | g.49611028C>A | CA376717025 | CHAT,SLC18A3 | c.288C>A (p.Asn96Lys) c.-69+1829C>A (n.-69+1829C>A) | |
10 | g.49611028C>G | CA376717030 | CHAT,SLC18A3 | c.288C>G (p.Asn96Lys) c.-69+1829C>G (n.-69+1829C>G) | |
10 | g.49611028C>T | CA469791216 | CHAT,SLC18A3 | c.288C>T (p.Asn96=) c.-69+1829C>T (n.-69+1829C>T) | ClinVar gnomAD v4 |
10 | g.49611030_49611058del | CA2609114943 | CHAT,SLC18A3 | c.290_318del (p.Thr97SerfsTer?) c.-69+1831_-69+1859del (n.-69+1831_-69+1859del) | gnomAD v4 |
10 | g.49611029A= | CA1908792746 | CHAT,SLC18A3 | c.289A= (p.Thr97=) c.-69+1830A= (n.-69+1830A=) | |
10 | g.49611029A>C | CA376717032 | CHAT,SLC18A3 | c.289A>C (p.Thr97Pro) c.-69+1830A>C (n.-69+1830A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611029A>G | CA376717034 | CHAT,SLC18A3 | c.289A>G (p.Thr97Ala) c.-69+1830A>G (n.-69+1830A>G) | gnomAD v4 |
10 | g.49611029A>T | CA376717037 | CHAT,SLC18A3 | c.289A>T (p.Thr97Ser) c.-69+1830A>T (n.-69+1830A>T) | gnomAD v4 |
10 | g.49611030C>A | CA376717043 | CHAT,SLC18A3 | c.290C>A (p.Thr97Asn) c.-69+1831C>A (n.-69+1831C>A) | |
10 | g.49611030C= | CA1908792749 | CHAT,SLC18A3 | c.290C= (p.Thr97=) c.-69+1831C= (n.-69+1831C=) | |
10 | g.49611030C>G | CA376717041 | CHAT,SLC18A3 | c.290C>G (p.Thr97Ser) c.-69+1831C>G (n.-69+1831C>G) | |
10 | g.49611030C>T | CA5496737 | CHAT,SLC18A3 | c.290C>T (p.Thr97Ile) c.-69+1831C>T (n.-69+1831C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611031C>A | CA469791223 | CHAT,SLC18A3 | c.291C>A (p.Thr97=) c.-69+1832C>A (n.-69+1832C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611031C= | CA1908792753 | CHAT,SLC18A3 | c.291C= (p.Thr97=) c.-69+1832C= (n.-69+1832C=) | |
10 | g.49611031C>G | CA469791222 | CHAT,SLC18A3 | c.291C>G (p.Thr97=) c.-69+1832C>G (n.-69+1832C>G) | |
10 | g.49611031C>T | CA469791221 | CHAT,SLC18A3 | c.291C>T (p.Thr97=) c.-69+1832C>T (n.-69+1832C>T) | dbSNP gnomAD v4 |
10 | g.49611032T>A | CA376718131 | CHAT,SLC18A3 | c.292T>A (p.Ser98Thr) c.-69+1833T>A (n.-69+1833T>A) | |
10 | g.49611032T>C | CA376718126 | CHAT,SLC18A3 | c.292T>C (p.Ser98Pro) c.-69+1833T>C (n.-69+1833T>C) | dbSNP gnomAD v4 |
10 | g.49611032T>G | CA376718129 | CHAT,SLC18A3 | c.292T>G (p.Ser98Ala) c.-69+1833T>G (n.-69+1833T>G) | |
10 | g.49611032T= | CA1908792760 | CHAT,SLC18A3 | c.292T= (p.Ser98=) c.-69+1833T= (n.-69+1833T=) | |
10 | g.49611033C>A | CA376718134 | CHAT,SLC18A3 | c.293C>A (p.Ser98Ter) c.-69+1834C>A (n.-69+1834C>A) | |
10 | g.49611033C= | CA1908792763 | CHAT,SLC18A3 | c.293C= (p.Ser98=) c.-69+1834C= (n.-69+1834C=) | |
10 | g.49611033C>G | CA376718137 | CHAT,SLC18A3 | c.293C>G (p.Ser98Trp) c.-69+1834C>G (n.-69+1834C>G) | |
10 | g.49611033C>T | CA376718139 | CHAT,SLC18A3 | c.293C>T (p.Ser98Leu) c.-69+1834C>T (n.-69+1834C>T) | dbSNP |
10 | g.49611034G>A | CA469791042 | CHAT,SLC18A3 | c.294G>A (p.Ser98=) c.-69+1835G>A (n.-69+1835G>A) | gnomAD v4 |
10 | g.49611034G>C | CA469791041 | CHAT,SLC18A3 | c.294G>C (p.Ser98=) c.-69+1835G>C (n.-69+1835G>C) | |
10 | g.49611034G= | CA1908792768 | CHAT,SLC18A3 | c.294G= (p.Ser98=) c.-69+1835G= (n.-69+1835G=) | |
10 | g.49611034G>T | CA469791040 | CHAT,SLC18A3 | c.294G>T (p.Ser98=) c.-69+1835G>T (n.-69+1835G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611035G>A | CA376718147 | CHAT,SLC18A3 | c.295G>A (p.Ala99Thr) c.-69+1836G>A (n.-69+1836G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611035G>C | CA376718144 | CHAT,SLC18A3 | c.295G>C (p.Ala99Pro) c.-69+1836G>C (n.-69+1836G>C) | COSMIC |
10 | g.49611035G= | CA1908792772 | CHAT,SLC18A3 | c.295G= (p.Ala99=) c.-69+1836G= (n.-69+1836G=) | |
10 | g.49611035G>T | CA376718142 | CHAT,SLC18A3 | c.295G>T (p.Ala99Ser) c.-69+1836G>T (n.-69+1836G>T) | |
10 | g.49611036C>A | CA376718150 | CHAT,SLC18A3 | c.296C>A (p.Ala99Glu) c.-69+1837C>A (n.-69+1837C>A) | |
10 | g.49611036C= | CA1908792776 | CHAT,SLC18A3 | c.296C= (p.Ala99=) c.-69+1837C= (n.-69+1837C=) | |
10 | g.49611036C>G | CA5496738 | CHAT,SLC18A3 | c.296C>G (p.Ala99Gly) c.-69+1837C>G (n.-69+1837C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611036C>T | CA376718154 | CHAT,SLC18A3 | c.296C>T (p.Ala99Val) c.-69+1837C>T (n.-69+1837C>T) | dbSNP gnomAD v4 COSMIC |
10 | g.49611037G>A | CA469791045 | CHAT,SLC18A3 | c.297G>A (p.Ala99=) c.-69+1838G>A (n.-69+1838G>A) | dbSNP COSMIC |
10 | g.49611037G>C | CA469791044 | CHAT,SLC18A3 | c.297G>C (p.Ala99=) c.-69+1838G>C (n.-69+1838G>C) | |
10 | g.49611037G= | CA1908792785 | CHAT,SLC18A3 | c.297G= (p.Ala99=) c.-69+1838G= (n.-69+1838G=) | |
10 | g.49611037G>T | CA469791046 | CHAT,SLC18A3 | c.297G>T (p.Ala99=) c.-69+1838G>T (n.-69+1838G>T) | gnomAD v4 |
10 | g.49611038T>A | CA376718156 | CHAT,SLC18A3 | c.298T>A (p.Ser100Thr) c.-69+1839T>A (n.-69+1839T>A) | |
10 | g.49611038T>C | CA376718157 | CHAT,SLC18A3 | c.298T>C (p.Ser100Pro) c.-69+1839T>C (n.-69+1839T>C) | gnomAD v4 |
10 | g.49611038T>G | CA376718158 | CHAT,SLC18A3 | c.298T>G (p.Ser100Ala) c.-69+1839T>G (n.-69+1839T>G) | |
10 | g.49611039C>A | CA206620918 | CHAT,SLC18A3 | c.299C>A (p.Ser100Tyr) c.-69+1840C>A (n.-69+1840C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611039C= | CA1908792792 | CHAT,SLC18A3 | c.299C= (p.Ser100=) c.-69+1840C= (n.-69+1840C=) | |
10 | g.49611039C>G | CA376718160 | CHAT,SLC18A3 | c.299C>G (p.Ser100Cys) c.-69+1840C>G (n.-69+1840C>G) | |
10 | g.49611039C>T | CA376718159 | CHAT,SLC18A3 | c.299C>T (p.Ser100Phe) c.-69+1840C>T (n.-69+1840C>T) | gnomAD v4 |
10 | g.49611042dup | CA2843219613 | CHAT,SLC18A3 | c.302dup (p.Thr102AspfsTer?) c.-69+1843dup (n.-69+1843dup) | |
10 | g.49611040C>A | CA469791052 | CHAT,SLC18A3 | c.300C>A (p.Ser100=) c.-69+1841C>A (n.-69+1841C>A) | |
10 | g.49611040C= | CA1908792798 | CHAT,SLC18A3 | c.300C= (p.Ser100=) c.-69+1841C= (n.-69+1841C=) | |
10 | g.49611040C>G | CA469791050 | CHAT,SLC18A3 | c.300C>G (p.Ser100=) c.-69+1841C>G (n.-69+1841C>G) | |
10 | g.49611040C>T | CA469791051 | CHAT,SLC18A3 | c.300C>T (p.Ser100=) c.-69+1841C>T (n.-69+1841C>T) | dbSNP |
10 | g.49611041C>A | CA376718161 | CHAT,SLC18A3 | c.301C>A (p.Pro101Thr) c.-69+1842C>A (n.-69+1842C>A) | |
10 | g.49611041C>G | CA376718162 | CHAT,SLC18A3 | c.301C>G (p.Pro101Ala) c.-69+1842C>G (n.-69+1842C>G) | |
10 | g.49611041C>T | CA376718163 | CHAT,SLC18A3 | c.301C>T (p.Pro101Ser) c.-69+1842C>T (n.-69+1842C>T) | gnomAD v4 |
10 | g.49611042C>A | CA376718164 | CHAT,SLC18A3 | c.302C>A (p.Pro101Gln) c.-69+1843C>A (n.-69+1843C>A) | |
10 | g.49611042C= | CA1908792800 | CHAT,SLC18A3 | c.302C= (p.Pro101=) c.-69+1843C= (n.-69+1843C=) | |
10 | g.49611042C>G | CA376718165 | CHAT,SLC18A3 | c.302C>G (p.Pro101Arg) c.-69+1843C>G (n.-69+1843C>G) | |
10 | g.49611042C>T | CA5496739 | CHAT,SLC18A3 | c.302C>T (p.Pro101Leu) c.-69+1843C>T (n.-69+1843C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611043G>A | CA469791056 | CHAT,SLC18A3 | c.303G>A (p.Pro101=) c.-69+1844G>A (n.-69+1844G>A) | gnomAD v4 |
10 | g.49611043G>C | CA469791057 | CHAT,SLC18A3 | c.303G>C (p.Pro101=) c.-69+1844G>C (n.-69+1844G>C) | |
10 | g.49611043G= | CA1908792804 | CHAT,SLC18A3 | c.303G= (p.Pro101=) c.-69+1844G= (n.-69+1844G=) | |
10 | g.49611043G>T | CA469791058 | CHAT,SLC18A3 | c.303G>T (p.Pro101=) c.-69+1844G>T (n.-69+1844G>T) | dbSNP |
10 | g.49611044A>C | CA376718166 | CHAT,SLC18A3 | c.304A>C (p.Thr102Pro) c.-69+1845A>C (n.-69+1845A>C) | |
10 | g.49611044A>G | CA376718167 | CHAT,SLC18A3 | c.304A>G (p.Thr102Ala) c.-69+1845A>G (n.-69+1845A>G) | |
10 | g.49611044A>T | CA376718168 | CHAT,SLC18A3 | c.304A>T (p.Thr102Ser) c.-69+1845A>T (n.-69+1845A>T) | |
10 | g.49611045C>A | CA376718169 | CHAT,SLC18A3 | c.305C>A (p.Thr102Lys) c.-69+1846C>A (n.-69+1846C>A) | dbSNP gnomAD v2 |
10 | g.49611045C= | CA1908792807 | CHAT,SLC18A3 | c.305C= (p.Thr102=) c.-69+1846C= (n.-69+1846C=) | |
10 | g.49611045C>G | CA376718170 | CHAT,SLC18A3 | c.305C>G (p.Thr102Arg) c.-69+1846C>G (n.-69+1846C>G) | |
10 | g.49611045C>T | CA376718171 | CHAT,SLC18A3 | c.305C>T (p.Thr102Ile) c.-69+1846C>T (n.-69+1846C>T) | |
10 | g.49611046A>C | CA469791067 | CHAT,SLC18A3 | c.306A>C (p.Thr102=) c.-69+1847A>C (n.-69+1847A>C) | |
10 | g.49611046A>G | CA469791063 | CHAT,SLC18A3 | c.306A>G (p.Thr102=) c.-69+1847A>G (n.-69+1847A>G) | |
10 | g.49611046A>T | CA469791065 | CHAT,SLC18A3 | c.306A>T (p.Thr102=) c.-69+1847A>T (n.-69+1847A>T) | |
10 | g.49611047G>A | CA376718174 | CHAT,SLC18A3 | c.307G>A (p.Ala103Thr) c.-69+1848G>A (n.-69+1848G>A) | |
10 | g.49611047G>C | CA376718173 | CHAT,SLC18A3 | c.307G>C (p.Ala103Pro) c.-69+1848G>C (n.-69+1848G>C) | dbSNP |
10 | g.49611047G>T | CA376718172 | CHAT,SLC18A3 | c.307G>T (p.Ala103Ser) c.-69+1848G>T (n.-69+1848G>T) | |
10 | g.49611048C>A | CA376718175 | CHAT,SLC18A3 | c.308C>A (p.Ala103Asp) c.-69+1849C>A (n.-69+1849C>A) | |
10 | g.49611048C>G | CA376718176 | CHAT,SLC18A3 | c.308C>G (p.Ala103Gly) c.-69+1849C>G (n.-69+1849C>G) | |
10 | g.49611048C>T | CA376718177 | CHAT,SLC18A3 | c.308C>T (p.Ala103Val) c.-69+1849C>T (n.-69+1849C>T) | |
10 | g.49611049T>A | CA469791069 | CHAT,SLC18A3 | c.309T>A (p.Ala103=) c.-69+1850T>A (n.-69+1850T>A) | |
10 | g.49611049T>C | CA469791071 | CHAT,SLC18A3 | c.309T>C (p.Ala103=) c.-69+1850T>C (n.-69+1850T>C) | |
10 | g.49611049T>G | CA469791070 | CHAT,SLC18A3 | c.309T>G (p.Ala103=) c.-69+1850T>G (n.-69+1850T>G) | |
10 | g.49611050G>A | CA5496740 | CHAT,SLC18A3 | c.310G>A (p.Ala104Thr) c.-69+1851G>A (n.-69+1851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611050G>C | CA376718178 | CHAT,SLC18A3 | c.310G>C (p.Ala104Pro) c.-69+1851G>C (n.-69+1851G>C) | |
10 | g.49611050G= | CA1908792808 | CHAT,SLC18A3 | c.310G= (p.Ala104=) c.-69+1851G= (n.-69+1851G=) | |
10 | g.49611050G>T | CA376718179 | CHAT,SLC18A3 | c.310G>T (p.Ala104Ser) c.-69+1851G>T (n.-69+1851G>T) | |
10 | g.49611051C>A | CA376718180 | CHAT,SLC18A3 | c.311C>A (p.Ala104Glu) c.-69+1852C>A (n.-69+1852C>A) | dbSNP gnomAD v4 |
10 | g.49611051C= | CA1908792812 | CHAT,SLC18A3 | c.311C= (p.Ala104=) c.-69+1852C= (n.-69+1852C=) | |
10 | g.49611051C>G | CA376718181 | CHAT,SLC18A3 | c.311C>G (p.Ala104Gly) c.-69+1852C>G (n.-69+1852C>G) | |
10 | g.49611051C>T | CA5496741 | CHAT,SLC18A3 | c.311C>T (p.Ala104Val) c.-69+1852C>T (n.-69+1852C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611052G>A | CA5496742 | CHAT,SLC18A3 | c.312G>A (p.Ala104=) c.-69+1853G>A (n.-69+1853G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611052G>C | CA469791079 | CHAT,SLC18A3 | c.312G>C (p.Ala104=) c.-69+1853G>C (n.-69+1853G>C) | |
10 | g.49611052G= | CA1908792823 | CHAT,SLC18A3 | c.312G= (p.Ala104=) c.-69+1853G= (n.-69+1853G=) | |
10 | g.49611052G>T | CA469791075 | CHAT,SLC18A3 | c.312G>T (p.Ala104=) c.-69+1853G>T (n.-69+1853G>T) | |
10 | g.49611053T>A | CA376718182 | CHAT,SLC18A3 | c.313T>A (p.Trp105Arg) c.-69+1854T>A (n.-69+1854T>A) | |
10 | g.49611053T>C | CA376718183 | CHAT,SLC18A3 | c.313T>C (p.Trp105Arg) c.-69+1854T>C (n.-69+1854T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611053T>G | CA376718184 | CHAT,SLC18A3 | c.313T>G (p.Trp105Gly) c.-69+1854T>G (n.-69+1854T>G) | |
10 | g.49611053T= | CA1908792843 | CHAT,SLC18A3 | c.313T= (p.Trp105=) c.-69+1854T= (n.-69+1854T=) | |
10 | g.49611054G>A | CA376718187 | CHAT,SLC18A3 | c.314G>A (p.Trp105Ter) c.-69+1855G>A (n.-69+1855G>A) | |
10 | g.49611054G>C | CA376718186 | CHAT,SLC18A3 | c.314G>C (p.Trp105Ser) c.-69+1855G>C (n.-69+1855G>C) | |
10 | g.49611054G>T | CA376718185 | CHAT,SLC18A3 | c.314G>T (p.Trp105Leu) c.-69+1855G>T (n.-69+1855G>T) | |
10 | g.49611055G>A | CA376718188 | CHAT,SLC18A3 | c.315G>A (p.Trp105Ter) c.-69+1856G>A (n.-69+1856G>A) | gnomAD v4 |
10 | g.49611055G>C | CA376718189 | CHAT,SLC18A3 | c.315G>C (p.Trp105Cys) c.-69+1856G>C (n.-69+1856G>C) | |
10 | g.49611055G>T | CA376718190 | CHAT,SLC18A3 | c.315G>T (p.Trp105Cys) c.-69+1856G>T (n.-69+1856G>T) | |
10 | g.49611056C>A | CA376718191 | CHAT,SLC18A3 | c.316C>A (p.Pro106Thr) c.-69+1857C>A (n.-69+1857C>A) | |
10 | g.49611056C>G | CA376718192 | CHAT,SLC18A3 | c.316C>G (p.Pro106Ala) c.-69+1857C>G (n.-69+1857C>G) | |
10 | g.49611056C>T | CA376718193 | CHAT,SLC18A3 | c.316C>T (p.Pro106Ser) c.-69+1857C>T (n.-69+1857C>T) | |
10 | g.49611057C>A | CA376718194 | CHAT,SLC18A3 | c.317C>A (p.Pro106Gln) c.-69+1858C>A (n.-69+1858C>A) | |
10 | g.49611057C>G | CA376718195 | CHAT,SLC18A3 | c.317C>G (p.Pro106Arg) c.-69+1858C>G (n.-69+1858C>G) | |
10 | g.49611057C>T | CA376718196 | CHAT,SLC18A3 | c.317C>T (p.Pro106Leu) c.-69+1858C>T (n.-69+1858C>T) | gnomAD v4 COSMIC |
10 | g.49611058A= | CA1908792847 | CHAT,SLC18A3 | c.318A= (p.Pro106=) c.-69+1859A= (n.-69+1859A=) | |
10 | g.49611058A>C | CA469791086 | CHAT,SLC18A3 | c.318A>C (p.Pro106=) c.-69+1859A>C (n.-69+1859A>C) | |
10 | g.49611058A>G | CA5496743 | CHAT,SLC18A3 | c.318A>G (p.Pro106=) c.-69+1859A>G (n.-69+1859A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611058A>T | CA469791087 | CHAT,SLC18A3 | c.318A>T (p.Pro106=) c.-69+1859A>T (n.-69+1859A>T) | |
10 | g.49611059G>A | CA376718197 | CHAT,SLC18A3 | c.319G>A (p.Ala107Thr) c.-69+1860G>A (n.-69+1860G>A) | gnomAD v4 |
10 | g.49611059G>C | CA376718198 | CHAT,SLC18A3 | c.319G>C (p.Ala107Pro) c.-69+1860G>C (n.-69+1860G>C) | dbSNP gnomAD v4 |
10 | g.49611059G= | CA1908792850 | CHAT,SLC18A3 | c.319G= (p.Ala107=) c.-69+1860G= (n.-69+1860G=) | |
10 | g.49611059G>T | CA376718199 | CHAT,SLC18A3 | c.319G>T (p.Ala107Ser) c.-69+1860G>T (n.-69+1860G>T) | |
10 | g.49611060C>A | CA5496744 | CHAT,SLC18A3 | c.320C>A (p.Ala107Glu) c.-69+1861C>A (n.-69+1861C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611060C= | CA1908792853 | CHAT,SLC18A3 | c.320C= (p.Ala107=) c.-69+1861C= (n.-69+1861C=) | |
10 | g.49611060C>G | CA376718201 | CHAT,SLC18A3 | c.320C>G (p.Ala107Gly) c.-69+1861C>G (n.-69+1861C>G) | |
10 | g.49611060C>T | CA376718200 | CHAT,SLC18A3 | c.320C>T (p.Ala107Val) c.-69+1861C>T (n.-69+1861C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611061G>A | CA5496745 | CHAT,SLC18A3 | c.321G>A (p.Ala107=) c.-69+1862G>A (n.-69+1862G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611061G>C | CA469791092 | CHAT,SLC18A3 | c.321G>C (p.Ala107=) c.-69+1862G>C (n.-69+1862G>C) | |
10 | g.49611061G= | CA1908792856 | CHAT,SLC18A3 | c.321G= (p.Ala107=) c.-69+1862G= (n.-69+1862G=) | |
10 | g.49611061G>T | CA469791094 | CHAT,SLC18A3 | c.321G>T (p.Ala107=) c.-69+1862G>T (n.-69+1862G>T) | |
10 | g.49611062G>A | CA376718202 | CHAT,SLC18A3 | c.322G>A (p.Gly108Ser) c.-69+1863G>A (n.-69+1863G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611062G>C | CA5496746 | CHAT,SLC18A3 | c.322G>C (p.Gly108Arg) c.-69+1863G>C (n.-69+1863G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611062G= | CA1908792862 | CHAT,SLC18A3 | c.322G= (p.Gly108=) c.-69+1863G= (n.-69+1863G=) | |
10 | g.49611062G>T | CA376718203 | CHAT,SLC18A3 | c.322G>T (p.Gly108Cys) c.-69+1863G>T (n.-69+1863G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611063G>A | CA376718204 | CHAT,SLC18A3 | c.323G>A (p.Gly108Asp) c.-69+1864G>A (n.-69+1864G>A) | |
10 | g.49611063G>C | CA376718205 | CHAT,SLC18A3 | c.323G>C (p.Gly108Ala) c.-69+1864G>C (n.-69+1864G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611063G= | CA1908792866 | CHAT,SLC18A3 | c.323G= (p.Gly108=) c.-69+1864G= (n.-69+1864G=) | |
10 | g.49611063G>T | CA376718206 | CHAT,SLC18A3 | c.323G>T (p.Gly108Val) c.-69+1864G>T (n.-69+1864G>T) | |
10 | g.49611064C>A | CA469791098 | CHAT,SLC18A3 | c.324C>A (p.Gly108=) c.-69+1865C>A (n.-69+1865C>A) | |
10 | g.49611064C>G | CA469791096 | CHAT,SLC18A3 | c.324C>G (p.Gly108=) c.-69+1865C>G (n.-69+1865C>G) | |
10 | g.49611064C>T | CA469791097 | CHAT,SLC18A3 | c.324C>T (p.Gly108=) c.-69+1865C>T (n.-69+1865C>T) | |
10 | g.49611065T>A | CA376718207 | CHAT,SLC18A3 | c.325T>A (p.Ser109Thr) c.-69+1866T>A (n.-69+1866T>A) | |
10 | g.49611065T>C | CA376718208 | CHAT,SLC18A3 | c.325T>C (p.Ser109Pro) c.-69+1866T>C (n.-69+1866T>C) | dbSNP |
10 | g.49611065T>G | CA376718209 | CHAT,SLC18A3 | c.325T>G (p.Ser109Ala) c.-69+1866T>G (n.-69+1866T>G) | |
10 | g.49611065T= | CA1908792871 | CHAT,SLC18A3 | c.325T= (p.Ser109=) c.-69+1866T= (n.-69+1866T=) | |
10 | g.49611066C>A | CA376718210 | CHAT,SLC18A3 | c.326C>A (p.Ser109Ter) c.-69+1867C>A (n.-69+1867C>A) | COSMIC |
10 | g.49611066C= | CA1908792874 | CHAT,SLC18A3 | c.326C= (p.Ser109=) c.-69+1867C= (n.-69+1867C=) | |
10 | g.49611066C>G | CA376718211 | CHAT,SLC18A3 | c.326C>G (p.Ser109Ter) c.-69+1867C>G (n.-69+1867C>G) | |
10 | g.49611066C>T | CA5496747 | CHAT,SLC18A3 | c.326C>T (p.Ser109Leu) c.-69+1867C>T (n.-69+1867C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611067A>C | CA469791104 | CHAT,SLC18A3 | c.327A>C (p.Ser109=) c.-69+1868A>C (n.-69+1868A>C) | |
10 | g.49611067A>G | CA469791103 | CHAT,SLC18A3 | c.327A>G (p.Ser109=) c.-69+1868A>G (n.-69+1868A>G) | |
10 | g.49611067A>T | CA469791102 | CHAT,SLC18A3 | c.327A>T (p.Ser109=) c.-69+1868A>T (n.-69+1868A>T) | |
10 | g.49611068G>A | CA5496748 | CHAT,SLC18A3 | c.328G>A (p.Ala110Thr) c.-69+1869G>A (n.-69+1869G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611068G>C | CA376718212 | CHAT,SLC18A3 | c.328G>C (p.Ala110Pro) c.-69+1869G>C (n.-69+1869G>C) | |
10 | g.49611068G= | CA1908792885 | CHAT,SLC18A3 | c.328G= (p.Ala110=) c.-69+1869G= (n.-69+1869G=) | |
10 | g.49611068G>T | CA376718213 | CHAT,SLC18A3 | c.328G>T (p.Ala110Ser) c.-69+1869G>T (n.-69+1869G>T) | |
10 | g.49611068_49611069delinsGC | CA1908792883 | CHAT,SLC18A3 | c.328_329delinsGC (p.Ala110=) c.-69+1869_-69+1870delinsGC (n.-69+1869_-69+1870delinsGC) | |
10 | g.49611069C>A | CA206620946 | CHAT,SLC18A3 | c.329C>A (p.Ala110Asp) c.-69+1870C>A (n.-69+1870C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611069C= | CA1908792894 | CHAT,SLC18A3 | c.329C= (p.Ala110=) c.-69+1870C= (n.-69+1870C=) | |
10 | g.49611069C>G | CA376718214 | CHAT,SLC18A3 | c.329C>G (p.Ala110Gly) c.-69+1870C>G (n.-69+1870C>G) | |
10 | g.49611069C>T | CA376718215 | CHAT,SLC18A3 | c.329C>T (p.Ala110Val) c.-69+1870C>T (n.-69+1870C>T) | gnomAD v4 |
10 | g.49611071del | CA206620944 | CHAT,SLC18A3 | c.331del (p.Leu111PhefsTer12) c.-69+1872del (n.-69+1872del) | dbSNP |
10 | g.49611070C>A | CA469791109 | CHAT,SLC18A3 | c.330C>A (p.Ala110=) c.-69+1871C>A (n.-69+1871C>A) | |
10 | g.49611070C>G | CA469791108 | CHAT,SLC18A3 | c.330C>G (p.Ala110=) c.-69+1871C>G (n.-69+1871C>G) | |
10 | g.49611070C>T | CA469791110 | CHAT,SLC18A3 | c.330C>T (p.Ala110=) c.-69+1871C>T (n.-69+1871C>T) | |
10 | g.49611071C>A | CA376718216 | CHAT,SLC18A3 | c.331C>A (p.Leu111Ile) c.-69+1872C>A (n.-69+1872C>A) | |
10 | g.49611071C= | CA1908792898 | CHAT,SLC18A3 | c.331C= (p.Leu111=) c.-69+1872C= (n.-69+1872C=) | |
10 | g.49611071C>G | CA376718217 | CHAT,SLC18A3 | c.331C>G (p.Leu111Val) c.-69+1872C>G (n.-69+1872C>G) | |
10 | g.49611071C>T | CA376718218 | CHAT,SLC18A3 | c.331C>T (p.Leu111Phe) c.-69+1872C>T (n.-69+1872C>T) | dbSNP |
10 | g.49611072T>A | CA376718219 | CHAT,SLC18A3 | c.332T>A (p.Leu111His) c.-69+1873T>A (n.-69+1873T>A) | |
10 | g.49611072T>C | CA376718220 | CHAT,SLC18A3 | c.332T>C (p.Leu111Pro) c.-69+1873T>C (n.-69+1873T>C) | |
10 | g.49611072T>G | CA376718221 | CHAT,SLC18A3 | c.332T>G (p.Leu111Arg) c.-69+1873T>G (n.-69+1873T>G) | |
10 | g.49611073T>A | CA469791122 | CHAT,SLC18A3 | c.333T>A (p.Leu111=) c.-69+1874T>A (n.-69+1874T>A) | |
10 | g.49611073T>C | CA469791119 | CHAT,SLC18A3 | c.333T>C (p.Leu111=) c.-69+1874T>C (n.-69+1874T>C) | |
10 | g.49611073T>G | CA469791121 | CHAT,SLC18A3 | c.333T>G (p.Leu111=) c.-69+1874T>G (n.-69+1874T>G) | |
10 | g.49611074C>A | CA469791124 | CHAT,SLC18A3 | c.334C>A (p.Arg112=) c.-69+1875C>A (n.-69+1875C>A) | |
10 | g.49611074C= | CA1908792903 | CHAT,SLC18A3 | c.334C= (p.Arg112=) c.-69+1875C= (n.-69+1875C=) | |
10 | g.49611074C>G | CA376718222 | CHAT,SLC18A3 | c.334C>G (p.Arg112Gly) c.-69+1875C>G (n.-69+1875C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611074C>T | CA376718223 | CHAT,SLC18A3 | c.334C>T (p.Arg112Trp) c.-69+1875C>T (n.-69+1875C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611075G>A | CA376718224 | CHAT,SLC18A3 | c.335G>A (p.Arg112Gln) c.-69+1876G>A (n.-69+1876G>A) | |
10 | g.49611075G>C | CA376718226 | CHAT,SLC18A3 | c.335G>C (p.Arg112Pro) c.-69+1876G>C (n.-69+1876G>C) | gnomAD v4 |
10 | g.49611075G>T | CA376718225 | CHAT,SLC18A3 | c.335G>T (p.Arg112Leu) c.-69+1876G>T (n.-69+1876G>T) | |
10 | g.49611076dup | CA2843219614 | CHAT,SLC18A3 | c.336dup (p.Pro113AlafsTer?) c.-69+1877dup (n.-69+1877dup) | |
10 | g.49611076G>A | CA469791131 | CHAT,SLC18A3 | c.336G>A (p.Arg112=) c.-69+1877G>A (n.-69+1877G>A) | gnomAD v4 |
10 | g.49611076G>C | CA469791130 | CHAT,SLC18A3 | c.336G>C (p.Arg112=) c.-69+1877G>C (n.-69+1877G>C) | |
10 | g.49611076G= | CA1908792907 | CHAT,SLC18A3 | c.336G= (p.Arg112=) c.-69+1877G= (n.-69+1877G=) | |
10 | g.49611076G>T | CA206620949 | CHAT,SLC18A3 | c.336G>T (p.Arg112=) c.-69+1877G>T (n.-69+1877G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611077C>A | CA376718228 | CHAT,SLC18A3 | c.337C>A (p.Pro113Thr) c.-69+1878C>A (n.-69+1878C>A) | |
10 | g.49611077C= | CA1908792913 | CHAT,SLC18A3 | c.337C= (p.Pro113=) c.-69+1878C= (n.-69+1878C=) | |
10 | g.49611077C>G | CA376718227 | CHAT,SLC18A3 | c.337C>G (p.Pro113Ala) c.-69+1878C>G (n.-69+1878C>G) | |
10 | g.49611077C>T | CA376718229 | CHAT,SLC18A3 | c.337C>T (p.Pro113Ser) c.-69+1878C>T (n.-69+1878C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611078_49611103dup | CA2609115060 | CHAT,SLC18A3 | c.338_363dup (p.Val122ProfsTer10) c.-69+1879_-69+1904dup (n.-69+1879_-69+1904dup) | gnomAD v4 |
10 | g.49611078C>A | CA376718230 | CHAT,SLC18A3 | c.338C>A (p.Pro113His) c.-69+1879C>A (n.-69+1879C>A) | gnomAD v4 |
10 | g.49611078C>G | CA376718231 | CHAT,SLC18A3 | c.338C>G (p.Pro113Arg) c.-69+1879C>G (n.-69+1879C>G) | |
10 | g.49611078C>T | CA376718232 | CHAT,SLC18A3 | c.338C>T (p.Pro113Leu) c.-69+1879C>T (n.-69+1879C>T) | |
10 | g.49611079C>A | CA469791140 | CHAT,SLC18A3 | c.339C>A (p.Pro113=) c.-69+1880C>A (n.-69+1880C>A) | |
10 | g.49611079C>G | CA469791138 | CHAT,SLC18A3 | c.339C>G (p.Pro113=) c.-69+1880C>G (n.-69+1880C>G) | |
10 | g.49611079C>T | CA469791139 | CHAT,SLC18A3 | c.339C>T (p.Pro113=) c.-69+1880C>T (n.-69+1880C>T) | |
10 | g.49611080C>A | CA376718233 | CHAT,SLC18A3 | c.340C>A (p.Arg114Ser) c.-69+1881C>A (n.-69+1881C>A) | |
10 | g.49611080C= | CA1908792918 | CHAT,SLC18A3 | c.340C= (p.Arg114=) c.-69+1881C= (n.-69+1881C=) | |
10 | g.49611080C>G | CA376718234 | CHAT,SLC18A3 | c.340C>G (p.Arg114Gly) c.-69+1881C>G (n.-69+1881C>G) | |
10 | g.49611080C>T | CA376718235 | CHAT,SLC18A3 | c.340C>T (p.Arg114Cys) c.-69+1881C>T (n.-69+1881C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611081G>A | CA376718236 | CHAT,SLC18A3 | c.341G>A (p.Arg114His) c.-69+1882G>A (n.-69+1882G>A) | gnomAD v4 |
10 | g.49611081G>C | CA376718237 | CHAT,SLC18A3 | c.341G>C (p.Arg114Pro) c.-69+1882G>C (n.-69+1882G>C) | |
10 | g.49611081G= | CA1908792922 | CHAT,SLC18A3 | c.341G= (p.Arg114=) c.-69+1882G= (n.-69+1882G=) | |
10 | g.49611081G>T | CA376718238 | CHAT,SLC18A3 | c.341G>T (p.Arg114Leu) c.-69+1882G>T (n.-69+1882G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611082C>A | CA469791149 | CHAT,SLC18A3 | c.342C>A (p.Arg114=) c.-69+1883C>A (n.-69+1883C>A) | |
10 | g.49611082C>G | CA469791153 | CHAT,SLC18A3 | c.342C>G (p.Arg114=) c.-69+1883C>G (n.-69+1883C>G) | |
10 | g.49611082C>T | CA469791151 | CHAT,SLC18A3 | c.342C>T (p.Arg114=) c.-69+1883C>T (n.-69+1883C>T) | |
10 | g.49611083T>A | CA376718239 | CHAT,SLC18A3 | c.343T>A (p.Tyr115Asn) c.-69+1884T>A (n.-69+1884T>A) | |
10 | g.49611083T>C | CA376718240 | CHAT,SLC18A3 | c.343T>C (p.Tyr115His) c.-69+1884T>C (n.-69+1884T>C) | |
10 | g.49611083T>G | CA376718241 | CHAT,SLC18A3 | c.343T>G (p.Tyr115Asp) c.-69+1884T>G (n.-69+1884T>G) | |
10 | g.49611084A>C | CA376718244 | CHAT,SLC18A3 | c.344A>C (p.Tyr115Ser) c.-69+1885A>C (n.-69+1885A>C) | |
10 | g.49611084A>G | CA376718242 | CHAT,SLC18A3 | c.344A>G (p.Tyr115Cys) c.-69+1885A>G (n.-69+1885A>G) | |
10 | g.49611084A>T | CA376718243 | CHAT,SLC18A3 | c.344A>T (p.Tyr115Phe) c.-69+1885A>T (n.-69+1885A>T) | |
10 | g.49611084_49611085delinsAC | CA1908792925 | CHAT,SLC18A3 | c.344_345delinsAC (p.Tyr115=) c.-69+1885_-69+1886delinsAC (n.-69+1885_-69+1886delinsAC) | |
10 | g.49611085C>A | CA376718245 | CHAT,SLC18A3 | c.345C>A (p.Tyr115Ter) c.-69+1886C>A (n.-69+1886C>A) | |
10 | g.49611085C>G | CA376718246 | CHAT,SLC18A3 | c.345C>G (p.Tyr115Ter) c.-69+1886C>G (n.-69+1886C>G) | |
10 | g.49611085C>T | CA469791157 | CHAT,SLC18A3 | c.345C>T (p.Tyr115=) c.-69+1886C>T (n.-69+1886C>T) | |
10 | g.49611087del | CA658657960 | CHAT,SLC18A3 | c.347del (p.Pro116LeufsTer7) c.-69+1888del (n.-69+1888del) | ClinVar dbSNP |
10 | g.49611086C>A | CA376718247 | CHAT,SLC18A3 | c.346C>A (p.Pro116Thr) c.-69+1887C>A (n.-69+1887C>A) | COSMIC |
10 | g.49611086C>G | CA376718248 | CHAT,SLC18A3 | c.346C>G (p.Pro116Ala) c.-69+1887C>G (n.-69+1887C>G) | |
10 | g.49611086C>T | CA376718249 | CHAT,SLC18A3 | c.346C>T (p.Pro116Ser) c.-69+1887C>T (n.-69+1887C>T) | gnomAD v4 |
10 | g.49611087C>A | CA376718250 | CHAT,SLC18A3 | c.347C>A (p.Pro116His) c.-69+1888C>A (n.-69+1888C>A) | |
10 | g.49611087C= | CA1908792936 | CHAT,SLC18A3 | c.347C= (p.Pro116=) c.-69+1888C= (n.-69+1888C=) | |
10 | g.49611087C>G | CA376718251 | CHAT,SLC18A3 | c.347C>G (p.Pro116Arg) c.-69+1888C>G (n.-69+1888C>G) | |
10 | g.49611087C>T | CA5496749 | CHAT,SLC18A3 | c.347C>T (p.Pro116Leu) c.-69+1888C>T (n.-69+1888C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611088T>A | CA469791170 | CHAT,SLC18A3 | c.348T>A (p.Pro116=) c.-69+1889T>A (n.-69+1889T>A) | |
10 | g.49611088T>C | CA469791166 | CHAT,SLC18A3 | c.348T>C (p.Pro116=) c.-69+1889T>C (n.-69+1889T>C) | |
10 | g.49611088T>G | CA469791164 | CHAT,SLC18A3 | c.348T>G (p.Pro116=) c.-69+1889T>G (n.-69+1889T>G) | |
10 | g.49611089A= | CA1908792942 | CHAT,SLC18A3 | c.349A= (p.Thr117=) c.-69+1890A= (n.-69+1890A=) | |
10 | g.49611089A>C | CA376718252 | CHAT,SLC18A3 | c.349A>C (p.Thr117Pro) c.-69+1890A>C (n.-69+1890A>C) | |
10 | g.49611089A>G | CA5496750 | CHAT,SLC18A3 | c.349A>G (p.Thr117Ala) c.-69+1890A>G (n.-69+1890A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611089A>T | CA376718253 | CHAT,SLC18A3 | c.349A>T (p.Thr117Ser) c.-69+1890A>T (n.-69+1890A>T) | |
10 | g.49611090C>A | CA376718255 | CHAT,SLC18A3 | c.350C>A (p.Thr117Lys) c.-69+1891C>A (n.-69+1891C>A) | |
10 | g.49611090C= | CA1908792945 | CHAT,SLC18A3 | c.350C= (p.Thr117=) c.-69+1891C= (n.-69+1891C=) | |
10 | g.49611090C>G | CA376718254 | CHAT,SLC18A3 | c.350C>G (p.Thr117Arg) c.-69+1891C>G (n.-69+1891C>G) | |
10 | g.49611090C>T | CA5496751 | CHAT,SLC18A3 | c.350C>T (p.Thr117Met) c.-69+1891C>T (n.-69+1891C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611091G>A | CA469791178 | CHAT,SLC18A3 | c.351G>A (p.Thr117=) c.-69+1892G>A (n.-69+1892G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611091G>C | CA469791176 | CHAT,SLC18A3 | c.351G>C (p.Thr117=) c.-69+1892G>C (n.-69+1892G>C) | |
10 | g.49611091G= | CA1908792949 | CHAT,SLC18A3 | c.351G= (p.Thr117=) c.-69+1892G= (n.-69+1892G=) | |
10 | g.49611091G>T | CA469791177 | CHAT,SLC18A3 | c.351G>T (p.Thr117=) c.-69+1892G>T (n.-69+1892G>T) | |
10 | g.49611092dup | CA2843219615 | CHAT,SLC18A3 | c.352dup (p.Glu118GlyfsTer?) c.-69+1893dup (n.-69+1893dup) | |
10 | g.49611092G>A | CA376718256 | CHAT,SLC18A3 | c.352G>A (p.Glu118Lys) c.-69+1893G>A (n.-69+1893G>A) | COSMIC |
10 | g.49611092G>C | CA376718257 | CHAT,SLC18A3 | c.352G>C (p.Glu118Gln) c.-69+1893G>C (n.-69+1893G>C) | |
10 | g.49611092G>T | CA376718258 | CHAT,SLC18A3 | c.352G>T (p.Glu118Ter) c.-69+1893G>T (n.-69+1893G>T) | |
10 | g.49611093A>C | CA376718259 | CHAT,SLC18A3 | c.353A>C (p.Glu118Ala) c.-69+1894A>C (n.-69+1894A>C) | |
10 | g.49611093A>G | CA376718260 | CHAT,SLC18A3 | c.353A>G (p.Glu118Gly) c.-69+1894A>G (n.-69+1894A>G) | |
10 | g.49611093A>T | CA376718261 | CHAT,SLC18A3 | c.353A>T (p.Glu118Val) c.-69+1894A>T (n.-69+1894A>T) | |
10 | g.49611094G>A | CA469791185 | CHAT,SLC18A3 | c.354G>A (p.Glu118=) c.-69+1895G>A (n.-69+1895G>A) | |
10 | g.49611094G>C | CA376718262 | CHAT,SLC18A3 | c.354G>C (p.Glu118Asp) c.-69+1895G>C (n.-69+1895G>C) | |
10 | g.49611094G>T | CA376718263 | CHAT,SLC18A3 | c.354G>T (p.Glu118Asp) c.-69+1895G>T (n.-69+1895G>T) | |
10 | g.49611095A>C | CA376718264 | CHAT,SLC18A3 | c.355A>C (p.Ser119Arg) c.-69+1896A>C (n.-69+1896A>C) | |
10 | g.49611095A>G | CA376718265 | CHAT,SLC18A3 | c.355A>G (p.Ser119Gly) c.-69+1896A>G (n.-69+1896A>G) | |
10 | g.49611095A>T | CA376718266 | CHAT,SLC18A3 | c.355A>T (p.Ser119Cys) c.-69+1896A>T (n.-69+1896A>T) | |
10 | g.49611096G>A | CA376718267 | CHAT,SLC18A3 | c.356G>A (p.Ser119Asn) c.-69+1897G>A (n.-69+1897G>A) | |
10 | g.49611096G>C | CA376718268 | CHAT,SLC18A3 | c.356G>C (p.Ser119Thr) c.-69+1897G>C (n.-69+1897G>C) | |
10 | g.49611096G>T | CA376718269 | CHAT,SLC18A3 | c.356G>T (p.Ser119Ile) c.-69+1897G>T (n.-69+1897G>T) | |
10 | g.49611097C>A | CA376718270 | CHAT,SLC18A3 | c.357C>A (p.Ser119Arg) c.-69+1898C>A (n.-69+1898C>A) | gnomAD v4 |
10 | g.49611097C>G | CA376718271 | CHAT,SLC18A3 | c.357C>G (p.Ser119Arg) c.-69+1898C>G (n.-69+1898C>G) | |
10 | g.49611097C>T | CA469791193 | CHAT,SLC18A3 | c.357C>T (p.Ser119=) c.-69+1898C>T (n.-69+1898C>T) | gnomAD v4 COSMIC |
10 | g.49611098G>A | CA376718272 | CHAT,SLC18A3 | c.358G>A (p.Glu120Lys) c.-69+1899G>A (n.-69+1899G>A) | |
10 | g.49611098G>C | CA376718273 | CHAT,SLC18A3 | c.358G>C (p.Glu120Gln) c.-69+1899G>C (n.-69+1899G>C) | |
10 | g.49611098G= | CA1908792965 | CHAT,SLC18A3 | c.358G= (p.Glu120=) c.-69+1899G= (n.-69+1899G=) | |
10 | g.49611098G>T | CA376718274 | CHAT,SLC18A3 | c.358G>T (p.Glu120Ter) c.-69+1899G>T (n.-69+1899G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611099A>C | CA376718275 | CHAT,SLC18A3 | c.359A>C (p.Glu120Ala) c.-69+1900A>C (n.-69+1900A>C) | |
10 | g.49611099A>G | CA376718276 | CHAT,SLC18A3 | c.359A>G (p.Glu120Gly) c.-69+1900A>G (n.-69+1900A>G) | |
10 | g.49611099A>T | CA376718277 | CHAT,SLC18A3 | c.359A>T (p.Glu120Val) c.-69+1900A>T (n.-69+1900A>T) | |
10 | g.49611100A>C | CA376718278 | CHAT,SLC18A3 | c.360A>C (p.Glu120Asp) c.-69+1901A>C (n.-69+1901A>C) | |
10 | g.49611100A>G | CA469791199 | CHAT,SLC18A3 | c.360A>G (p.Glu120=) c.-69+1901A>G (n.-69+1901A>G) | |
10 | g.49611100A>T | CA376718279 | CHAT,SLC18A3 | c.360A>T (p.Glu120Asp) c.-69+1901A>T (n.-69+1901A>T) | |
10 | g.49611101G>A | CA376718280 | CHAT,SLC18A3 | c.361G>A (p.Asp121Asn) c.-69+1902G>A (n.-69+1902G>A) | |
10 | g.49611101G>C | CA376718281 | CHAT,SLC18A3 | c.361G>C (p.Asp121His) c.-69+1902G>C (n.-69+1902G>C) | |
10 | g.49611101G>T | CA376718282 | CHAT,SLC18A3 | c.361G>T (p.Asp121Tyr) c.-69+1902G>T (n.-69+1902G>T) | |
10 | g.49611102A>C | CA376718285 | CHAT,SLC18A3 | c.362A>C (p.Asp121Ala) c.-69+1903A>C (n.-69+1903A>C) | |
10 | g.49611102A>G | CA376718284 | CHAT,SLC18A3 | c.362A>G (p.Asp121Gly) c.-69+1903A>G (n.-69+1903A>G) | |
10 | g.49611102A>T | CA376718283 | CHAT,SLC18A3 | c.362A>T (p.Asp121Val) c.-69+1903A>T (n.-69+1903A>T) | |
10 | g.49611103C>A | CA376718286 | CHAT,SLC18A3 | c.363C>A (p.Asp121Glu) c.-69+1904C>A (n.-69+1904C>A) | dbSNP gnomAD v4 |
10 | g.49611103C= | CA1908792969 | CHAT,SLC18A3 | c.363C= (p.Asp121=) c.-69+1904C= (n.-69+1904C=) | |
10 | g.49611103C>G | CA376718287 | CHAT,SLC18A3 | c.363C>G (p.Asp121Glu) c.-69+1904C>G (n.-69+1904C>G) | |
10 | g.49611103C>T | CA469791205 | CHAT,SLC18A3 | c.363C>T (p.Asp121=) c.-69+1904C>T (n.-69+1904C>T) | gnomAD v4 |
10 | g.49611104G>A | CA376718288 | CHAT,SLC18A3 | c.364G>A (p.Val122Met) c.-69+1905G>A (n.-69+1905G>A) | |
10 | g.49611104G>C | CA376718289 | CHAT,SLC18A3 | c.364G>C (p.Val122Leu) c.-69+1905G>C (n.-69+1905G>C) | gnomAD v4 |
10 | g.49611104G= | CA1908792974 | CHAT,SLC18A3 | c.364G= (p.Val122=) c.-69+1905G= (n.-69+1905G=) | |
10 | g.49611104G>T | CA376718290 | CHAT,SLC18A3 | c.364G>T (p.Val122Leu) c.-69+1905G>T (n.-69+1905G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611105T>A | CA376718291 | CHAT,SLC18A3 | c.365T>A (p.Val122Glu) c.-69+1906T>A (n.-69+1906T>A) | COSMIC |
10 | g.49611105T>C | CA376718292 | CHAT,SLC18A3 | c.365T>C (p.Val122Ala) c.-69+1906T>C (n.-69+1906T>C) | gnomAD v4 |
10 | g.49611105T>G | CA376718293 | CHAT,SLC18A3 | c.365T>G (p.Val122Gly) c.-69+1906T>G (n.-69+1906T>G) | |
10 | g.49611106G>A | CA469791214 | CHAT,SLC18A3 | c.366G>A (p.Val122=) c.-69+1907G>A (n.-69+1907G>A) | |
10 | g.49611106G>C | CA469791213 | CHAT,SLC18A3 | c.366G>C (p.Val122=) c.-69+1907G>C (n.-69+1907G>C) | |
10 | g.49611106G>T | CA469791212 | CHAT,SLC18A3 | c.366G>T (p.Val122=) c.-69+1907G>T (n.-69+1907G>T) | |
10 | g.49611107A>C | CA376718296 | CHAT,SLC18A3 | c.367A>C (p.Lys123Gln) c.-69+1908A>C (n.-69+1908A>C) | gnomAD v4 |
10 | g.49611107A>G | CA376718294 | CHAT,SLC18A3 | c.367A>G (p.Lys123Glu) c.-69+1908A>G (n.-69+1908A>G) | |
10 | g.49611107A>T | CA376718295 | CHAT,SLC18A3 | c.367A>T (p.Lys123Ter) c.-69+1908A>T (n.-69+1908A>T) | |
10 | g.49611108A>C | CA376718297 | CHAT,SLC18A3 | c.368A>C (p.Lys123Thr) c.-69+1909A>C (n.-69+1909A>C) | |
10 | g.49611108A>G | CA376718298 | CHAT,SLC18A3 | c.368A>G (p.Lys123Arg) c.-69+1909A>G (n.-69+1909A>G) | |
10 | g.49611108A>T | CA376718299 | CHAT,SLC18A3 | c.368A>T (p.Lys123Met) c.-69+1909A>T (n.-69+1909A>T) | |
10 | g.49611109G>A | CA469791218 | CHAT,SLC18A3 | c.369G>A (p.Lys123=) c.-69+1910G>A (n.-69+1910G>A) | gnomAD v4 |
10 | g.49611109G>C | CA376718300 | CHAT,SLC18A3 | c.369G>C (p.Lys123Asn) c.-69+1910G>C (n.-69+1910G>C) | |
10 | g.49611109G>T | CA376718301 | CHAT,SLC18A3 | c.369G>T (p.Lys123Asn) c.-69+1910G>T (n.-69+1910G>T) | gnomAD v4 |
10 | g.49611110A>C | CA376718302 | CHAT,SLC18A3 | c.370A>C (p.Ile124Leu) c.-69+1911A>C (n.-69+1911A>C) | |
10 | g.49611110A>G | CA376718304 | CHAT,SLC18A3 | c.370A>G (p.Ile124Val) c.-69+1911A>G (n.-69+1911A>G) | gnomAD v4 |
10 | g.49611110A>T | CA376718303 | CHAT,SLC18A3 | c.370A>T (p.Ile124Phe) c.-69+1911A>T (n.-69+1911A>T) | COSMIC |
10 | g.49611111T>A | CA376718305 | CHAT,SLC18A3 | c.371T>A (p.Ile124Asn) c.-69+1912T>A (n.-69+1912T>A) | |
10 | g.49611111T>C | CA5496752 | CHAT,SLC18A3 | c.371T>C (p.Ile124Thr) c.-69+1912T>C (n.-69+1912T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.49611111T>G | CA376718306 | CHAT,SLC18A3 | c.371T>G (p.Ile124Ser) c.-69+1912T>G (n.-69+1912T>G) | COSMIC |
10 | g.49611111T= | CA1908792977 | CHAT,SLC18A3 | c.371T= (p.Ile124=) c.-69+1912T= (n.-69+1912T=) | |
10 | g.49611112C>A | CA469791224 | CHAT,SLC18A3 | c.372C>A (p.Ile124=) c.-69+1913C>A (n.-69+1913C>A) | |
10 | g.49611112C= | CA1908792981 | CHAT,SLC18A3 | c.372C= (p.Ile124=) c.-69+1913C= (n.-69+1913C=) | |
10 | g.49611112C>G | CA376718307 | CHAT,SLC18A3 | c.372C>G (p.Ile124Met) c.-69+1913C>G (n.-69+1913C>G) | |
10 | g.49611112C>T | CA206620963 | CHAT,SLC18A3 | c.372C>T (p.Ile124=) c.-69+1913C>T (n.-69+1913C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611113G>A | CA376718308 | CHAT,SLC18A3 | c.373G>A (p.Gly125Arg) c.-69+1914G>A (n.-69+1914G>A) | gnomAD v4 |
10 | g.49611113G>C | CA376718309 | CHAT,SLC18A3 | c.373G>C (p.Gly125Arg) c.-69+1914G>C (n.-69+1914G>C) | |
10 | g.49611113G>T | CA376718310 | CHAT,SLC18A3 | c.373G>T (p.Gly125Trp) c.-69+1914G>T (n.-69+1914G>T) | COSMIC |
10 | g.49611116dup | CA2843219616 | CHAT,SLC18A3 | c.376dup (p.Val126GlyfsTer?) c.-69+1917dup (n.-69+1917dup) | |
10 | g.49611114G>A | CA376718311 | CHAT,SLC18A3 | c.374G>A (p.Gly125Glu) c.-69+1915G>A (n.-69+1915G>A) | |
10 | g.49611114G>C | CA376718312 | CHAT,SLC18A3 | c.374G>C (p.Gly125Ala) c.-69+1915G>C (n.-69+1915G>C) | |
10 | g.49611114G>T | CA376718313 | CHAT,SLC18A3 | c.374G>T (p.Gly125Val) c.-69+1915G>T (n.-69+1915G>T) | |
10 | g.49611115G>A | CA469791228 | CHAT,SLC18A3 | c.375G>A (p.Gly125=) c.-69+1916G>A (n.-69+1916G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611115G>C | CA469791229 | CHAT,SLC18A3 | c.375G>C (p.Gly125=) c.-69+1916G>C (n.-69+1916G>C) | |
10 | g.49611115G= | CA1908792986 | CHAT,SLC18A3 | c.375G= (p.Gly125=) c.-69+1916G= (n.-69+1916G=) | |
10 | g.49611115G>T | CA469791227 | CHAT,SLC18A3 | c.375G>T (p.Gly125=) c.-69+1916G>T (n.-69+1916G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611116G>A | CA376718316 | CHAT,SLC18A3 | c.376G>A (p.Val126Met) c.-69+1917G>A (n.-69+1917G>A) | |
10 | g.49611116G>C | CA376718315 | CHAT,SLC18A3 | c.376G>C (p.Val126Leu) c.-69+1917G>C (n.-69+1917G>C) | |
10 | g.49611116G>T | CA376718314 | CHAT,SLC18A3 | c.376G>T (p.Val126Leu) c.-69+1917G>T (n.-69+1917G>T) | |
10 | g.49611117T>A | CA376718317 | CHAT,SLC18A3 | c.377T>A (p.Val126Glu) c.-69+1918T>A (n.-69+1918T>A) | gnomAD v4 |
10 | g.49611117T>C | CA376718318 | CHAT,SLC18A3 | c.377T>C (p.Val126Ala) c.-69+1918T>C (n.-69+1918T>C) | gnomAD v4 |
10 | g.49611117T>G | CA376718319 | CHAT,SLC18A3 | c.377T>G (p.Val126Gly) c.-69+1918T>G (n.-69+1918T>G) | |
10 | g.49611118G>A | CA5496753 | CHAT,SLC18A3 | c.378G>A (p.Val126=) c.-69+1919G>A (n.-69+1919G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611118G>C | CA469791233 | CHAT,SLC18A3 | c.378G>C (p.Val126=) c.-69+1919G>C (n.-69+1919G>C) | |
10 | g.49611118G= | CA1908792991 | CHAT,SLC18A3 | c.378G= (p.Val126=) c.-69+1919G= (n.-69+1919G=) | |
10 | g.49611118G>T | CA469791232 | CHAT,SLC18A3 | c.378G>T (p.Val126=) c.-69+1919G>T (n.-69+1919G>T) | dbSNP |
10 | g.49611119C>A | CA376718320 | CHAT,SLC18A3 | c.379C>A (p.Leu127Met) c.-69+1920C>A (n.-69+1920C>A) | |
10 | g.49611119C= | CA1908792999 | CHAT,SLC18A3 | c.379C= (p.Leu127=) c.-69+1920C= (n.-69+1920C=) | |
10 | g.49611119C>G | CA376718322 | CHAT,SLC18A3 | c.379C>G (p.Leu127Val) c.-69+1920C>G (n.-69+1920C>G) | |
10 | g.49611119C>T | CA5496754 | CHAT,SLC18A3 | c.379C>T (p.Leu127=) c.-69+1920C>T (n.-69+1920C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611120T>A | CA376718325 | CHAT,SLC18A3 | c.380T>A (p.Leu127Gln) c.-69+1921T>A (n.-69+1921T>A) | |
10 | g.49611120T>C | CA376718327 | CHAT,SLC18A3 | c.380T>C (p.Leu127Pro) c.-69+1921T>C (n.-69+1921T>C) | |
10 | g.49611120T>G | CA376718329 | CHAT,SLC18A3 | c.380T>G (p.Leu127Arg) c.-69+1921T>G (n.-69+1921T>G) | |
10 | g.49611121G>A | CA469791240 | CHAT,SLC18A3 | c.381G>A (p.Leu127=) c.-69+1922G>A (n.-69+1922G>A) | gnomAD v4 |
10 | g.49611121G>C | CA469791241 | CHAT,SLC18A3 | c.381G>C (p.Leu127=) c.-69+1922G>C (n.-69+1922G>C) | |
10 | g.49611121G>T | CA469791239 | CHAT,SLC18A3 | c.381G>T (p.Leu127=) c.-69+1922G>T (n.-69+1922G>T) | dbSNP |
10 | g.49611122T>A | CA376718331 | CHAT,SLC18A3 | c.382T>A (p.Phe128Ile) c.-69+1923T>A (n.-69+1923T>A) | |
10 | g.49611122T>C | CA376718332 | CHAT,SLC18A3 | c.382T>C (p.Phe128Leu) c.-69+1923T>C (n.-69+1923T>C) | |
10 | g.49611122T>G | CA376718334 | CHAT,SLC18A3 | c.382T>G (p.Phe128Val) c.-69+1923T>G (n.-69+1923T>G) | |
10 | g.49611124del | CA2839770167 | CHAT,SLC18A3 | c.384del (p.Phe128LeufsTer10) c.-69+1925del (n.-69+1925del) | |
10 | g.49611123T>A | CA376718338 | CHAT,SLC18A3 | c.383T>A (p.Phe128Tyr) c.-69+1924T>A (n.-69+1924T>A) | |
10 | g.49611123T>C | CA376718335 | CHAT,SLC18A3 | c.383T>C (p.Phe128Ser) c.-69+1924T>C (n.-69+1924T>C) | dbSNP |
10 | g.49611123T>G | CA376718337 | CHAT,SLC18A3 | c.383T>G (p.Phe128Cys) c.-69+1924T>G (n.-69+1924T>G) | |
10 | g.49611123T= | CA1908793003 | CHAT,SLC18A3 | c.383T= (p.Phe128=) c.-69+1924T= (n.-69+1924T=) | |
10 | g.49611124T>A | CA376718340 | CHAT,SLC18A3 | c.384T>A (p.Phe128Leu) c.-69+1925T>A (n.-69+1925T>A) | |
10 | g.49611124T>C | CA469791248 | CHAT,SLC18A3 | c.384T>C (p.Phe128=) c.-69+1925T>C (n.-69+1925T>C) | |
10 | g.49611124T>G | CA376718342 | CHAT,SLC18A3 | c.384T>G (p.Phe128Leu) c.-69+1925T>G (n.-69+1925T>G) | |
10 | g.49611125G>A | CA376718344 | CHAT,SLC18A3 | c.385G>A (p.Ala129Thr) c.-69+1926G>A (n.-69+1926G>A) | |
10 | g.49611125G>C | CA376718346 | CHAT,SLC18A3 | c.385G>C (p.Ala129Pro) c.-69+1926G>C (n.-69+1926G>C) | |
10 | g.49611125G= | CA1908793006 | CHAT,SLC18A3 | c.385G= (p.Ala129=) c.-69+1926G= (n.-69+1926G=) | |
10 | g.49611125G>T | CA5496755 | CHAT,SLC18A3 | c.385G>T (p.Ala129Ser) c.-69+1926G>T (n.-69+1926G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611126C>A | CA376718348 | CHAT,SLC18A3 | c.386C>A (p.Ala129Asp) c.-69+1927C>A (n.-69+1927C>A) | |
10 | g.49611126C>G | CA376718350 | CHAT,SLC18A3 | c.386C>G (p.Ala129Gly) c.-69+1927C>G (n.-69+1927C>G) | |
10 | g.49611126C>T | CA376718352 | CHAT,SLC18A3 | c.386C>T (p.Ala129Val) c.-69+1927C>T (n.-69+1927C>T) | gnomAD v4 |
10 | g.49611127T>A | CA469791252 | CHAT,SLC18A3 | c.387T>A (p.Ala129=) c.-69+1928T>A (n.-69+1928T>A) | |
10 | g.49611127T>C | CA5496756 | CHAT,SLC18A3 | c.387T>C (p.Ala129=) c.-69+1928T>C (n.-69+1928T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611127T>G | CA469791251 | CHAT,SLC18A3 | c.387T>G (p.Ala129=) c.-69+1928T>G (n.-69+1928T>G) | |
10 | g.49611127T= | CA1908793014 | CHAT,SLC18A3 | c.387T= (p.Ala129=) c.-69+1928T= (n.-69+1928T=) |