Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
10 | g.49611151A>C | CA469791313 | CHAT,SLC18A3 | c.411A>C (p.Leu137=) c.-69+1952A>C (n.-69+1952A>C) | |
10 | g.49611151A>G | CA469791310 | CHAT,SLC18A3 | c.411A>G (p.Leu137=) c.-69+1952A>G (n.-69+1952A>G) | |
10 | g.49611151A>T | CA469791309 | CHAT,SLC18A3 | c.411A>T (p.Leu137=) c.-69+1952A>T (n.-69+1952A>T) | |
10 | g.49611152G>A | CA5496760 | CHAT,SLC18A3 | c.412G>A (p.Val138Met) c.-69+1953G>A (n.-69+1953G>A) | dbSNP ExAC gnomAD v2 |
10 | g.49611152G>C | CA376718452 | CHAT,SLC18A3 | c.412G>C (p.Val138Leu) c.-69+1953G>C (n.-69+1953G>C) | |
10 | g.49611152G= | CA1908793061 | CHAT,SLC18A3 | c.412G= (p.Val138=) c.-69+1953G= (n.-69+1953G=) | |
10 | g.49611152G>T | CA376718454 | CHAT,SLC18A3 | c.412G>T (p.Val138Leu) c.-69+1953G>T (n.-69+1953G>T) | |
10 | g.49611153T>A | CA376718456 | CHAT,SLC18A3 | c.413T>A (p.Val138Glu) c.-69+1954T>A (n.-69+1954T>A) | |
10 | g.49611153T>C | CA5496761 | CHAT,SLC18A3 | c.413T>C (p.Val138Ala) c.-69+1954T>C (n.-69+1954T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611153T>G | CA376718458 | CHAT,SLC18A3 | c.413T>G (p.Val138Gly) c.-69+1954T>G (n.-69+1954T>G) | |
10 | g.49611153T= | CA1908793066 | CHAT,SLC18A3 | c.413T= (p.Val138=) c.-69+1954T= (n.-69+1954T=) | |
10 | g.49611154G>A | CA469791317 | CHAT,SLC18A3 | c.414G>A (p.Val138=) c.-69+1955G>A (n.-69+1955G>A) | gnomAD v4 |
10 | g.49611154G>C | CA469791316 | CHAT,SLC18A3 | c.414G>C (p.Val138=) c.-69+1955G>C (n.-69+1955G>C) | |
10 | g.49611154G>T | CA469791320 | CHAT,SLC18A3 | c.414G>T (p.Val138=) c.-69+1955G>T (n.-69+1955G>T) | |
10 | g.49611155A>C | CA376718461 | CHAT,SLC18A3 | c.415A>C (p.Asn139His) c.-69+1956A>C (n.-69+1956A>C) | |
10 | g.49611155A>G | CA376718464 | CHAT,SLC18A3 | c.415A>G (p.Asn139Asp) c.-69+1956A>G (n.-69+1956A>G) | |
10 | g.49611155A>T | CA376718462 | CHAT,SLC18A3 | c.415A>T (p.Asn139Tyr) c.-69+1956A>T (n.-69+1956A>T) | |
10 | g.49611156A= | CA1908793070 | CHAT,SLC18A3 | c.416A= (p.Asn139=) c.-69+1957A= (n.-69+1957A=) | |
10 | g.49611156A>C | CA376718466 | CHAT,SLC18A3 | c.416A>C (p.Asn139Thr) c.-69+1957A>C (n.-69+1957A>C) | |
10 | g.49611156A>G | CA5496762 | CHAT,SLC18A3 | c.416A>G (p.Asn139Ser) c.-69+1957A>G (n.-69+1957A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611156A>T | CA376718469 | CHAT,SLC18A3 | c.416A>T (p.Asn139Ile) c.-69+1957A>T (n.-69+1957A>T) | |
10 | g.49611157C>A | CA376718471 | CHAT,SLC18A3 | c.417C>A (p.Asn139Lys) c.-69+1958C>A (n.-69+1958C>A) | |
10 | g.49611157C= | CA1908793073 | CHAT,SLC18A3 | c.417C= (p.Asn139=) c.-69+1958C= (n.-69+1958C=) | |
10 | g.49611157C>G | CA376718473 | CHAT,SLC18A3 | c.417C>G (p.Asn139Lys) c.-69+1958C>G (n.-69+1958C>G) | |
10 | g.49611157C>T | CA469791327 | CHAT,SLC18A3 | c.417C>T (p.Asn139=) c.-69+1958C>T (n.-69+1958C>T) | dbSNP gnomAD v4 |
10 | g.49611158C>A | CA376718476 | CHAT,SLC18A3 | c.418C>A (p.Pro140Thr) c.-69+1959C>A (n.-69+1959C>A) | |
10 | g.49611158C>G | CA376718477 | CHAT,SLC18A3 | c.418C>G (p.Pro140Ala) c.-69+1959C>G (n.-69+1959C>G) | |
10 | g.49611158C>T | CA376718480 | CHAT,SLC18A3 | c.418C>T (p.Pro140Ser) c.-69+1959C>T (n.-69+1959C>T) | ClinVar gnomAD v4 |
10 | g.49611159C>A | CA376718483 | CHAT,SLC18A3 | c.419C>A (p.Pro140His) c.-69+1960C>A (n.-69+1960C>A) | |
10 | g.49611159C= | CA1908793080 | CHAT,SLC18A3 | c.419C= (p.Pro140=) c.-69+1960C= (n.-69+1960C=) | |
10 | g.49611159C>G | CA206620991 | CHAT,SLC18A3 | c.419C>G (p.Pro140Arg) c.-69+1960C>G (n.-69+1960C>G) | dbSNP |
10 | g.49611159C>T | CA376718485 | CHAT,SLC18A3 | c.419C>T (p.Pro140Leu) c.-69+1960C>T (n.-69+1960C>T) | |
10 | g.49611160C>A | CA469791335 | CHAT,SLC18A3 | c.420C>A (p.Pro140=) c.-69+1961C>A (n.-69+1961C>A) | |
10 | g.49611160C= | CA1908793083 | CHAT,SLC18A3 | c.420C= (p.Pro140=) c.-69+1961C= (n.-69+1961C=) | |
10 | g.49611160C>G | CA469791336 | CHAT,SLC18A3 | c.420C>G (p.Pro140=) c.-69+1961C>G (n.-69+1961C>G) | |
10 | g.49611160C>T | CA469791334 | CHAT,SLC18A3 | c.420C>T (p.Pro140=) c.-69+1961C>T (n.-69+1961C>T) | dbSNP gnomAD v4 |
10 | g.49611161T>A | CA376718488 | CHAT,SLC18A3 | c.421T>A (p.Leu141Met) c.-69+1962T>A (n.-69+1962T>A) | |
10 | g.49611161T>C | CA469791337 | CHAT,SLC18A3 | c.421T>C (p.Leu141=) c.-69+1962T>C (n.-69+1962T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611161T>G | CA376718490 | CHAT,SLC18A3 | c.421T>G (p.Leu141Val) c.-69+1962T>G (n.-69+1962T>G) | |
10 | g.49611161T= | CA1908793087 | CHAT,SLC18A3 | c.421T= (p.Leu141=) c.-69+1962T= (n.-69+1962T=) | |
10 | g.49611162T>A | CA376718492 | CHAT,SLC18A3 | c.422T>A (p.Leu141Ter) c.-69+1963T>A (n.-69+1963T>A) | |
10 | g.49611162T>C | CA376718496 | CHAT,SLC18A3 | c.422T>C (p.Leu141Ser) c.-69+1963T>C (n.-69+1963T>C) | |
10 | g.49611162T>G | CA376718494 | CHAT,SLC18A3 | c.422T>G (p.Leu141Trp) c.-69+1963T>G (n.-69+1963T>G) | gnomAD v4 |
10 | g.49611163G>A | CA469791347 | CHAT,SLC18A3 | c.423G>A (p.Leu141=) c.-69+1964G>A (n.-69+1964G>A) | |
10 | g.49611163G>C | CA376718499 | CHAT,SLC18A3 | c.423G>C (p.Leu141Phe) c.-69+1964G>C (n.-69+1964G>C) | |
10 | g.49611163G>T | CA376718501 | CHAT,SLC18A3 | c.423G>T (p.Leu141Phe) c.-69+1964G>T (n.-69+1964G>T) | COSMIC |
10 | g.49611164A>C | CA376718504 | CHAT,SLC18A3 | c.424A>C (p.Ser142Arg) c.-69+1965A>C (n.-69+1965A>C) | |
10 | g.49611164A>G | CA376718506 | CHAT,SLC18A3 | c.424A>G (p.Ser142Gly) c.-69+1965A>G (n.-69+1965A>G) | |
10 | g.49611164A>T | CA376718507 | CHAT,SLC18A3 | c.424A>T (p.Ser142Cys) c.-69+1965A>T (n.-69+1965A>T) | |
10 | g.49611165G>A | CA376718511 | CHAT,SLC18A3 | c.425G>A (p.Ser142Asn) c.-69+1966G>A (n.-69+1966G>A) | |
10 | g.49611165G>C | CA376718512 | CHAT,SLC18A3 | c.425G>C (p.Ser142Thr) c.-69+1966G>C (n.-69+1966G>C) | |
10 | g.49611165G>T | CA376718514 | CHAT,SLC18A3 | c.425G>T (p.Ser142Ile) c.-69+1966G>T (n.-69+1966G>T) | |
10 | g.49611166_49611167del | CA2609115195 | CHAT,SLC18A3 | c.426_427del (p.Ser142ArgfsTer?) c.-69+1967_-69+1968del (n.-69+1967_-69+1968del) | gnomAD v4 |
10 | g.49611166C>A | CA376718516 | CHAT,SLC18A3 | c.426C>A (p.Ser142Arg) c.-69+1967C>A (n.-69+1967C>A) | |
10 | g.49611166C= | CA1908793091 | CHAT,SLC18A3 | c.426C= (p.Ser142=) c.-69+1967C= (n.-69+1967C=) | |
10 | g.49611166C>G | CA376718518 | CHAT,SLC18A3 | c.426C>G (p.Ser142Arg) c.-69+1967C>G (n.-69+1967C>G) | |
10 | g.49611166C>T | CA469791354 | CHAT,SLC18A3 | c.426C>T (p.Ser142=) c.-69+1967C>T (n.-69+1967C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611167G>A | CA376718519 | CHAT,SLC18A3 | c.427G>A (p.Gly143Arg) c.-69+1968G>A (n.-69+1968G>A) | |
10 | g.49611167G>C | CA376718521 | CHAT,SLC18A3 | c.427G>C (p.Gly143Arg) c.-69+1968G>C (n.-69+1968G>C) | |
10 | g.49611167G= | CA1908793094 | CHAT,SLC18A3 | c.427G= (p.Gly143=) c.-69+1968G= (n.-69+1968G=) | |
10 | g.49611167G>T | CA376718522 | CHAT,SLC18A3 | c.427G>T (p.Gly143Trp) c.-69+1968G>T (n.-69+1968G>T) | dbSNP |
10 | g.49611168G>A | CA376718524 | CHAT,SLC18A3 | c.428G>A (p.Gly143Glu) c.-69+1969G>A (n.-69+1969G>A) | |
10 | g.49611168G>C | CA376718527 | CHAT,SLC18A3 | c.428G>C (p.Gly143Ala) c.-69+1969G>C (n.-69+1969G>C) | ClinVar dbSNP |
10 | g.49611168G>T | CA376718525 | CHAT,SLC18A3 | c.428G>T (p.Gly143Val) c.-69+1969G>T (n.-69+1969G>T) | |
10 | g.49611169G>A | CA469791358 | CHAT,SLC18A3 | c.429G>A (p.Gly143=) c.-69+1970G>A (n.-69+1970G>A) | gnomAD v4 |
10 | g.49611169G>C | CA469791361 | CHAT,SLC18A3 | c.429G>C (p.Gly143=) c.-69+1970G>C (n.-69+1970G>C) | |
10 | g.49611169G>T | CA469791360 | CHAT,SLC18A3 | c.429G>T (p.Gly143=) c.-69+1970G>T (n.-69+1970G>T) | |
10 | g.49611170C>A | CA376718529 | CHAT,SLC18A3 | c.430C>A (p.Pro144Thr) c.-69+1971C>A (n.-69+1971C>A) | gnomAD v4 |
10 | g.49611170C>G | CA376718531 | CHAT,SLC18A3 | c.430C>G (p.Pro144Ala) c.-69+1971C>G (n.-69+1971C>G) | |
10 | g.49611170C>T | CA376718533 | CHAT,SLC18A3 | c.430C>T (p.Pro144Ser) c.-69+1971C>T (n.-69+1971C>T) | |
10 | g.49611171C>A | CA376718535 | CHAT,SLC18A3 | c.431C>A (p.Pro144His) c.-69+1972C>A (n.-69+1972C>A) | |
10 | g.49611171C>G | CA376718538 | CHAT,SLC18A3 | c.431C>G (p.Pro144Arg) c.-69+1972C>G (n.-69+1972C>G) | |
10 | g.49611171C>T | CA376718540 | CHAT,SLC18A3 | c.431C>T (p.Pro144Leu) c.-69+1972C>T (n.-69+1972C>T) | |
10 | g.49611172C>A | CA469791367 | CHAT,SLC18A3 | c.432C>A (p.Pro144=) c.-69+1973C>A (n.-69+1973C>A) | |
10 | g.49611172C>G | CA469791370 | CHAT,SLC18A3 | c.432C>G (p.Pro144=) c.-69+1973C>G (n.-69+1973C>G) | |
10 | g.49611172C>T | CA469791368 | CHAT,SLC18A3 | c.432C>T (p.Pro144=) c.-69+1973C>T (n.-69+1973C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611173T>A | CA376718542 | CHAT,SLC18A3 | c.433T>A (p.Phe145Ile) c.-69+1974T>A (n.-69+1974T>A) | |
10 | g.49611173T>C | CA376718544 | CHAT,SLC18A3 | c.433T>C (p.Phe145Leu) c.-69+1974T>C (n.-69+1974T>C) | |
10 | g.49611173T>G | CA376718546 | CHAT,SLC18A3 | c.433T>G (p.Phe145Val) c.-69+1974T>G (n.-69+1974T>G) | |
10 | g.49611174T>A | CA376718553 | CHAT,SLC18A3 | c.434T>A (p.Phe145Tyr) c.-69+1975T>A (n.-69+1975T>A) | |
10 | g.49611174T>C | CA376718551 | CHAT,SLC18A3 | c.434T>C (p.Phe145Ser) c.-69+1975T>C (n.-69+1975T>C) | |
10 | g.49611174T>G | CA376718548 | CHAT,SLC18A3 | c.434T>G (p.Phe145Cys) c.-69+1975T>G (n.-69+1975T>G) | |
10 | g.49611175C>A | CA376718555 | CHAT,SLC18A3 | c.435C>A (p.Phe145Leu) c.-69+1976C>A (n.-69+1976C>A) | |
10 | g.49611175C>G | CA376718557 | CHAT,SLC18A3 | c.435C>G (p.Phe145Leu) c.-69+1976C>G (n.-69+1976C>G) | |
10 | g.49611175C>T | CA469791377 | CHAT,SLC18A3 | c.435C>T (p.Phe145=) c.-69+1976C>T (n.-69+1976C>T) | |
10 | g.49611176A= | CA1908793095 | CHAT,SLC18A3 | c.436A= (p.Ile146=) c.-69+1977A= (n.-69+1977A=) | |
10 | g.49611176A>C | CA376718559 | CHAT,SLC18A3 | c.436A>C (p.Ile146Leu) c.-69+1977A>C (n.-69+1977A>C) | |
10 | g.49611176A>G | CA5496763 | CHAT,SLC18A3 | c.436A>G (p.Ile146Val) c.-69+1977A>G (n.-69+1977A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611176A>T | CA376718561 | CHAT,SLC18A3 | c.436A>T (p.Ile146Phe) c.-69+1977A>T (n.-69+1977A>T) | |
10 | g.49611177T>A | CA376718564 | CHAT,SLC18A3 | c.437T>A (p.Ile146Asn) c.-69+1978T>A (n.-69+1978T>A) | |
10 | g.49611177T>C | CA376718566 | CHAT,SLC18A3 | c.437T>C (p.Ile146Thr) c.-69+1978T>C (n.-69+1978T>C) | gnomAD v4 |
10 | g.49611177T>G | CA376718568 | CHAT,SLC18A3 | c.437T>G (p.Ile146Ser) c.-69+1978T>G (n.-69+1978T>G) | |
10 | g.49611178C>A | CA469791384 | CHAT,SLC18A3 | c.438C>A (p.Ile146=) c.-69+1979C>A (n.-69+1979C>A) | |
10 | g.49611178C= | CA1908793096 | CHAT,SLC18A3 | c.438C= (p.Ile146=) c.-69+1979C= (n.-69+1979C=) | |
10 | g.49611178C>G | CA376718570 | CHAT,SLC18A3 | c.438C>G (p.Ile146Met) c.-69+1979C>G (n.-69+1979C>G) | |
10 | g.49611178C>T | CA5496764 | CHAT,SLC18A3 | c.438C>T (p.Ile146=) c.-69+1979C>T (n.-69+1979C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611179G>A | CA376718574 | CHAT,SLC18A3 | c.439G>A (p.Asp147Asn) c.-69+1980G>A (n.-69+1980G>A) | |
10 | g.49611179G>C | CA376718575 | CHAT,SLC18A3 | c.439G>C (p.Asp147His) c.-69+1980G>C (n.-69+1980G>C) | |
10 | g.49611179G>T | CA376718577 | CHAT,SLC18A3 | c.439G>T (p.Asp147Tyr) c.-69+1980G>T (n.-69+1980G>T) | gnomAD v4 |
10 | g.49611180A>C | CA376718584 | CHAT,SLC18A3 | c.440A>C (p.Asp147Ala) c.-69+1981A>C (n.-69+1981A>C) | |
10 | g.49611180A>G | CA376718580 | CHAT,SLC18A3 | c.440A>G (p.Asp147Gly) c.-69+1981A>G (n.-69+1981A>G) | |
10 | g.49611180A>T | CA376718582 | CHAT,SLC18A3 | c.440A>T (p.Asp147Val) c.-69+1981A>T (n.-69+1981A>T) |