Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
10 | g.49611128T>A | CA376718354 | CHAT,SLC18A3 | c.388T>A (p.Ser130Thr) c.-69+1929T>A (n.-69+1929T>A) | |
10 | g.49611128T>C | CA376718356 | CHAT,SLC18A3 | c.388T>C (p.Ser130Pro) c.-69+1929T>C (n.-69+1929T>C) | |
10 | g.49611128T>G | CA376718358 | CHAT,SLC18A3 | c.388T>G (p.Ser130Ala) c.-69+1929T>G (n.-69+1929T>G) | |
10 | g.49611129C>A | CA376718362 | CHAT,SLC18A3 | c.389C>A (p.Ser130Tyr) c.-69+1930C>A (n.-69+1930C>A) | |
10 | g.49611129C>G | CA376718364 | CHAT,SLC18A3 | c.389C>G (p.Ser130Cys) c.-69+1930C>G (n.-69+1930C>G) | |
10 | g.49611129C>T | CA376718361 | CHAT,SLC18A3 | c.389C>T (p.Ser130Phe) c.-69+1930C>T (n.-69+1930C>T) | COSMIC |
10 | g.49611130dup | CA2843219617 | CHAT,SLC18A3 | c.390dup (p.Lys131GlnfsTer?) c.-69+1931dup (n.-69+1931dup) | |
10 | g.49611130C>A | CA469791259 | CHAT,SLC18A3 | c.390C>A (p.Ser130=) c.-69+1931C>A (n.-69+1931C>A) | |
10 | g.49611130C>G | CA469791260 | CHAT,SLC18A3 | c.390C>G (p.Ser130=) c.-69+1931C>G (n.-69+1931C>G) | |
10 | g.49611130C>T | CA469791258 | CHAT,SLC18A3 | c.390C>T (p.Ser130=) c.-69+1931C>T (n.-69+1931C>T) | COSMIC |
10 | g.49611131A>C | CA376718367 | CHAT,SLC18A3 | c.391A>C (p.Lys131Gln) c.-69+1932A>C (n.-69+1932A>C) | |
10 | g.49611131A>G | CA376718370 | CHAT,SLC18A3 | c.391A>G (p.Lys131Glu) c.-69+1932A>G (n.-69+1932A>G) | |
10 | g.49611131A>T | CA376718368 | CHAT,SLC18A3 | c.391A>T (p.Lys131Ter) c.-69+1932A>T (n.-69+1932A>T) | |
10 | g.49611132A= | CA1908793021 | CHAT,SLC18A3 | c.392A= (p.Lys131=) c.-69+1933A= (n.-69+1933A=) | |
10 | g.49611132A>C | CA376718372 | CHAT,SLC18A3 | c.392A>C (p.Lys131Thr) c.-69+1933A>C (n.-69+1933A>C) | gnomAD v4 |
10 | g.49611132A>G | CA206620974 | CHAT,SLC18A3 | c.392A>G (p.Lys131Arg) c.-69+1933A>G (n.-69+1933A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611132A>T | CA376718373 | CHAT,SLC18A3 | c.392A>T (p.Lys131Met) c.-69+1933A>T (n.-69+1933A>T) | |
10 | g.49611133G>A | CA5496757 | CHAT,SLC18A3 | c.393G>A (p.Lys131=) c.-69+1934G>A (n.-69+1934G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611133G>C | CA376718379 | CHAT,SLC18A3 | c.393G>C (p.Lys131Asn) c.-69+1934G>C (n.-69+1934G>C) | |
10 | g.49611133G= | CA1908793026 | CHAT,SLC18A3 | c.393G= (p.Lys131=) c.-69+1934G= (n.-69+1934G=) | |
10 | g.49611133G>T | CA376718377 | CHAT,SLC18A3 | c.393G>T (p.Lys131Asn) c.-69+1934G>T (n.-69+1934G>T) | |
10 | g.49611134G>A | CA376718381 | CHAT,SLC18A3 | c.394G>A (p.Ala132Thr) c.-69+1935G>A (n.-69+1935G>A) | |
10 | g.49611134G>C | CA376718385 | CHAT,SLC18A3 | c.394G>C (p.Ala132Pro) c.-69+1935G>C (n.-69+1935G>C) | |
10 | g.49611134G= | CA1908793032 | CHAT,SLC18A3 | c.394G= (p.Ala132=) c.-69+1935G= (n.-69+1935G=) | |
10 | g.49611134G>T | CA376718383 | CHAT,SLC18A3 | c.394G>T (p.Ala132Ser) c.-69+1935G>T (n.-69+1935G>T) | dbSNP gnomAD v4 |
10 | g.49611135C>A | CA376718387 | CHAT,SLC18A3 | c.395C>A (p.Ala132Asp) c.-69+1936C>A (n.-69+1936C>A) | |
10 | g.49611135C= | CA1908793034 | CHAT,SLC18A3 | c.395C= (p.Ala132=) c.-69+1936C= (n.-69+1936C=) | |
10 | g.49611135C>G | CA376718389 | CHAT,SLC18A3 | c.395C>G (p.Ala132Gly) c.-69+1936C>G (n.-69+1936C>G) | |
10 | g.49611135C>T | CA5496758 | CHAT,SLC18A3 | c.395C>T (p.Ala132Val) c.-69+1936C>T (n.-69+1936C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611136T>A | CA469791271 | CHAT,SLC18A3 | c.396T>A (p.Ala132=) c.-69+1937T>A (n.-69+1937T>A) | |
10 | g.49611136T>C | CA5496759 | CHAT,SLC18A3 | c.396T>C (p.Ala132=) c.-69+1937T>C (n.-69+1937T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611136T>G | CA469791272 | CHAT,SLC18A3 | c.396T>G (p.Ala132=) c.-69+1937T>G (n.-69+1937T>G) | |
10 | g.49611136T= | CA1908793037 | CHAT,SLC18A3 | c.396T= (p.Ala132=) c.-69+1937T= (n.-69+1937T=) | |
10 | g.49611137A>C | CA376718394 | CHAT,SLC18A3 | c.397A>C (p.Ile133Leu) c.-69+1938A>C (n.-69+1938A>C) | |
10 | g.49611137A>G | CA376718396 | CHAT,SLC18A3 | c.397A>G (p.Ile133Val) c.-69+1938A>G (n.-69+1938A>G) | |
10 | g.49611137A>T | CA376718398 | CHAT,SLC18A3 | c.397A>T (p.Ile133Phe) c.-69+1938A>T (n.-69+1938A>T) | |
10 | g.49611138T>A | CA376718400 | CHAT,SLC18A3 | c.398T>A (p.Ile133Asn) c.-69+1939T>A (n.-69+1939T>A) | |
10 | g.49611138T>C | CA376718403 | CHAT,SLC18A3 | c.398T>C (p.Ile133Thr) c.-69+1939T>C (n.-69+1939T>C) | |
10 | g.49611138T>G | CA376718405 | CHAT,SLC18A3 | c.398T>G (p.Ile133Ser) c.-69+1939T>G (n.-69+1939T>G) | |
10 | g.49611139C>A | CA469791275 | CHAT,SLC18A3 | c.399C>A (p.Ile133=) c.-69+1940C>A (n.-69+1940C>A) | |
10 | g.49611139C= | CA1908793044 | CHAT,SLC18A3 | c.399C= (p.Ile133=) c.-69+1940C= (n.-69+1940C=) | |
10 | g.49611139C>G | CA376718407 | CHAT,SLC18A3 | c.399C>G (p.Ile133Met) c.-69+1940C>G (n.-69+1940C>G) | |
10 | g.49611139C>T | CA469791276 | CHAT,SLC18A3 | c.399C>T (p.Ile133=) c.-69+1940C>T (n.-69+1940C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611140C>A | CA376718410 | CHAT,SLC18A3 | c.400C>A (p.Leu134Met) c.-69+1941C>A (n.-69+1941C>A) | |
10 | g.49611140C>G | CA376718408 | CHAT,SLC18A3 | c.400C>G (p.Leu134Val) c.-69+1941C>G (n.-69+1941C>G) | |
10 | g.49611140C>T | CA469791282 | CHAT,SLC18A3 | c.400C>T (p.Leu134=) c.-69+1941C>T (n.-69+1941C>T) | COSMIC |
10 | g.49611141T>A | CA376718412 | CHAT,SLC18A3 | c.401T>A (p.Leu134Gln) c.-69+1942T>A (n.-69+1942T>A) | |
10 | g.49611141T>C | CA376718413 | CHAT,SLC18A3 | c.401T>C (p.Leu134Pro) c.-69+1942T>C (n.-69+1942T>C) | |
10 | g.49611141T>G | CA376718414 | CHAT,SLC18A3 | c.401T>G (p.Leu134Arg) c.-69+1942T>G (n.-69+1942T>G) | |
10 | g.49611142G>A | CA469791288 | CHAT,SLC18A3 | c.402G>A (p.Leu134=) c.-69+1943G>A (n.-69+1943G>A) | dbSNP |
10 | g.49611142G>C | CA469791287 | CHAT,SLC18A3 | c.402G>C (p.Leu134=) c.-69+1943G>C (n.-69+1943G>C) | |
10 | g.49611142G>T | CA469791286 | CHAT,SLC18A3 | c.402G>T (p.Leu134=) c.-69+1943G>T (n.-69+1943G>T) | |
10 | g.49611143C>A | CA376718416 | CHAT,SLC18A3 | c.403C>A (p.Gln135Lys) c.-69+1944C>A (n.-69+1944C>A) | |
10 | g.49611143C>G | CA376718418 | CHAT,SLC18A3 | c.403C>G (p.Gln135Glu) c.-69+1944C>G (n.-69+1944C>G) | |
10 | g.49611143C>T | CA376718420 | CHAT,SLC18A3 | c.403C>T (p.Gln135Ter) c.-69+1944C>T (n.-69+1944C>T) | |
10 | g.49611144A>C | CA376718423 | CHAT,SLC18A3 | c.404A>C (p.Gln135Pro) c.-69+1945A>C (n.-69+1945A>C) | |
10 | g.49611144A>G | CA376718425 | CHAT,SLC18A3 | c.404A>G (p.Gln135Arg) c.-69+1945A>G (n.-69+1945A>G) | |
10 | g.49611144A>T | CA376718427 | CHAT,SLC18A3 | c.404A>T (p.Gln135Leu) c.-69+1945A>T (n.-69+1945A>T) | |
10 | g.49611145G>A | CA469791294 | CHAT,SLC18A3 | c.405G>A (p.Gln135=) c.-69+1946G>A (n.-69+1946G>A) | |
10 | g.49611145G>C | CA376718429 | CHAT,SLC18A3 | c.405G>C (p.Gln135His) c.-69+1946G>C (n.-69+1946G>C) | |
10 | g.49611145G>T | CA376718430 | CHAT,SLC18A3 | c.405G>T (p.Gln135His) c.-69+1946G>T (n.-69+1946G>T) | |
10 | g.49611146C>A | CA376718435 | CHAT,SLC18A3 | c.406C>A (p.Leu136Met) c.-69+1947C>A (n.-69+1947C>A) | |
10 | g.49611146C>G | CA376718433 | CHAT,SLC18A3 | c.406C>G (p.Leu136Val) c.-69+1947C>G (n.-69+1947C>G) | gnomAD v4 |
10 | g.49611146C>T | CA469791296 | CHAT,SLC18A3 | c.406C>T (p.Leu136=) c.-69+1947C>T (n.-69+1947C>T) | |
10 | g.49611147T>A | CA376718438 | CHAT,SLC18A3 | c.407T>A (p.Leu136Gln) c.-69+1948T>A (n.-69+1948T>A) | |
10 | g.49611147T>C | CA376718440 | CHAT,SLC18A3 | c.407T>C (p.Leu136Pro) c.-69+1948T>C (n.-69+1948T>C) | |
10 | g.49611147T>G | CA376718442 | CHAT,SLC18A3 | c.407T>G (p.Leu136Arg) c.-69+1948T>G (n.-69+1948T>G) | |
10 | g.49611148G>A | CA469791301 | CHAT,SLC18A3 | c.408G>A (p.Leu136=) c.-69+1949G>A (n.-69+1949G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611148G>C | CA469791303 | CHAT,SLC18A3 | c.408G>C (p.Leu136=) c.-69+1949G>C (n.-69+1949G>C) | |
10 | g.49611148G= | CA1908793049 | CHAT,SLC18A3 | c.408G= (p.Leu136=) c.-69+1949G= (n.-69+1949G=) | |
10 | g.49611148G>T | CA469791302 | CHAT,SLC18A3 | c.408G>T (p.Leu136=) c.-69+1949G>T (n.-69+1949G>T) | dbSNP gnomAD v4 |
10 | g.49611149C>A | CA376718444 | CHAT,SLC18A3 | c.409C>A (p.Leu137Ile) c.-69+1950C>A (n.-69+1950C>A) | |
10 | g.49611149C>G | CA376718446 | CHAT,SLC18A3 | c.409C>G (p.Leu137Val) c.-69+1950C>G (n.-69+1950C>G) | |
10 | g.49611149C>T | CA469791307 | CHAT,SLC18A3 | c.409C>T (p.Leu137=) c.-69+1950C>T (n.-69+1950C>T) | gnomAD v4 |
10 | g.49611150T>A | CA376718451 | CHAT,SLC18A3 | c.410T>A (p.Leu137Gln) c.-69+1951T>A (n.-69+1951T>A) | |
10 | g.49611150T>C | CA376718449 | CHAT,SLC18A3 | c.410T>C (p.Leu137Pro) c.-69+1951T>C (n.-69+1951T>C) | gnomAD v4 |
10 | g.49611150T>G | CA376718447 | CHAT,SLC18A3 | c.410T>G (p.Leu137Arg) c.-69+1951T>G (n.-69+1951T>G) |