UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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.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) | |
| 10 | g.49611181C>A | CA376718586 | CHAT,SLC18A3 | c.441C>A (p.Asp147Glu) c.-69+1982C>A (n.-69+1982C>A) | |
| 10 | g.49611181C>G | CA376718587 | CHAT,SLC18A3 | c.441C>G (p.Asp147Glu) c.-69+1982C>G (n.-69+1982C>G) | |
| 10 | g.49611181C>T | CA469791391 | CHAT,SLC18A3 | c.441C>T (p.Asp147=) c.-69+1982C>T (n.-69+1982C>T) | |
| 10 | g.49611182C>A | CA5496766 | CHAT,SLC18A3 | c.442C>A (p.Arg148Ser) c.-69+1983C>A (n.-69+1983C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611182C= | CA1908793098 | CHAT,SLC18A3 | c.442C= (p.Arg148=) c.-69+1983C= (n.-69+1983C=) | |
| 10 | g.49611182C>G | CA376718588 | CHAT,SLC18A3 | c.442C>G (p.Arg148Gly) c.-69+1983C>G (n.-69+1983C>G) | |
| 10 | g.49611182C>T | CA5496765 | CHAT,SLC18A3 | c.442C>T (p.Arg148Cys) c.-69+1983C>T (n.-69+1983C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611183G>A | CA376718590 | CHAT,SLC18A3 | c.443G>A (p.Arg148His) c.-69+1984G>A (n.-69+1984G>A) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49611183G>C | CA376718592 | CHAT,SLC18A3 | c.443G>C (p.Arg148Pro) c.-69+1984G>C (n.-69+1984G>C) | |
| 10 | g.49611183G= | CA1908793100 | CHAT,SLC18A3 | c.443G= (p.Arg148=) c.-69+1984G= (n.-69+1984G=) | |
| 10 | g.49611183G>T | CA376718593 | CHAT,SLC18A3 | c.443G>T (p.Arg148Leu) c.-69+1984G>T (n.-69+1984G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611184C>A | CA469791400 | CHAT,SLC18A3 | c.444C>A (p.Arg148=) c.-69+1985C>A (n.-69+1985C>A) | |
| 10 | g.49611184C>G | CA469791399 | CHAT,SLC18A3 | c.444C>G (p.Arg148=) c.-69+1985C>G (n.-69+1985C>G) | |
| 10 | g.49611184C>T | CA469791398 | CHAT,SLC18A3 | c.444C>T (p.Arg148=) c.-69+1985C>T (n.-69+1985C>T) | |
| 10 | g.49611185A= | CA1908793104 | CHAT,SLC18A3 | c.445A= (p.Met149=) c.-69+1986A= (n.-69+1986A=) | |
| 10 | g.49611185A>C | CA376718596 | CHAT,SLC18A3 | c.445A>C (p.Met149Leu) c.-69+1986A>C (n.-69+1986A>C) | dbSNP |
| 10 | g.49611185A>G | CA376718599 | CHAT,SLC18A3 | c.445A>G (p.Met149Val) c.-69+1986A>G (n.-69+1986A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611185A>T | CA376718601 | CHAT,SLC18A3 | c.445A>T (p.Met149Leu) c.-69+1986A>T (n.-69+1986A>T) | |
| 10 | g.49611186T>A | CA376718607 | CHAT,SLC18A3 | c.446T>A (p.Met149Lys) c.-69+1987T>A (n.-69+1987T>A) | gnomAD v4 |
| 10 | g.49611186T>C | CA376718605 | CHAT,SLC18A3 | c.446T>C (p.Met149Thr) c.-69+1987T>C (n.-69+1987T>C) | gnomAD v4 |
| 10 | g.49611186T>G | CA376718603 | CHAT,SLC18A3 | c.446T>G (p.Met149Arg) c.-69+1987T>G (n.-69+1987T>G) | |
| 10 | g.49611187G>A | CA376718608 | CHAT,SLC18A3 | c.447G>A (p.Met149Ile) c.-69+1988G>A (n.-69+1988G>A) | |
| 10 | g.49611187G>C | CA376718610 | CHAT,SLC18A3 | c.447G>C (p.Met149Ile) c.-69+1988G>C (n.-69+1988G>C) | |
| 10 | g.49611187G>T | CA376718609 | CHAT,SLC18A3 | c.447G>T (p.Met149Ile) c.-69+1988G>T (n.-69+1988G>T) | |
| 10 | g.49611188A= | CA1908793107 | CHAT,SLC18A3 | c.448A= (p.Ser150=) c.-69+1989A= (n.-69+1989A=) | |
| 10 | g.49611188A>C | CA376718613 | CHAT,SLC18A3 | c.448A>C (p.Ser150Arg) c.-69+1989A>C (n.-69+1989A>C) | |
| 10 | g.49611188A>G | CA376718618 | CHAT,SLC18A3 | c.448A>G (p.Ser150Gly) c.-69+1989A>G (n.-69+1989A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611188A>T | CA376718614 | CHAT,SLC18A3 | c.448A>T (p.Ser150Cys) c.-69+1989A>T (n.-69+1989A>T) | |
| 10 | g.49611189G>A | CA376718620 | CHAT,SLC18A3 | c.449G>A (p.Ser150Asn) c.-69+1990G>A (n.-69+1990G>A) | dbSNP gnomAD v4 |
| 10 | g.49611189G>C | CA376718622 | CHAT,SLC18A3 | c.449G>C (p.Ser150Thr) c.-69+1990G>C (n.-69+1990G>C) | |
| 10 | g.49611189G>T | CA376718624 | CHAT,SLC18A3 | c.449G>T (p.Ser150Ile) c.-69+1990G>T (n.-69+1990G>T) | |
| 10 | g.49611190C>A | CA376718627 | CHAT,SLC18A3 | c.450C>A (p.Ser150Arg) c.-69+1991C>A (n.-69+1991C>A) | gnomAD v4 |
| 10 | g.49611190C>G | CA376718629 | CHAT,SLC18A3 | c.450C>G (p.Ser150Arg) c.-69+1991C>G (n.-69+1991C>G) | |
| 10 | g.49611190C>T | CA469791415 | CHAT,SLC18A3 | c.450C>T (p.Ser150=) c.-69+1991C>T (n.-69+1991C>T) | |
| 10 | g.49611191T>A | CA376718631 | CHAT,SLC18A3 | c.451T>A (p.Tyr151Asn) c.-69+1992T>A (n.-69+1992T>A) | |
| 10 | g.49611191T>C | CA376718635 | CHAT,SLC18A3 | c.451T>C (p.Tyr151His) c.-69+1992T>C (n.-69+1992T>C) | |
| 10 | g.49611191T>G | CA376718636 | CHAT,SLC18A3 | c.451T>G (p.Tyr151Asp) c.-69+1992T>G (n.-69+1992T>G) | |
| 10 | g.49611192A= | CA1908793110 | CHAT,SLC18A3 | c.452A= (p.Tyr151=) c.-69+1993A= (n.-69+1993A=) | |
| 10 | g.49611192A>C | CA376718638 | CHAT,SLC18A3 | c.452A>C (p.Tyr151Ser) c.-69+1993A>C (n.-69+1993A>C) | |
| 10 | g.49611192A>G | CA376718643 | CHAT,SLC18A3 | c.452A>G (p.Tyr151Cys) c.-69+1993A>G (n.-69+1993A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611192A>T | CA376718645 | CHAT,SLC18A3 | c.452A>T (p.Tyr151Phe) c.-69+1993A>T (n.-69+1993A>T) | |
| 10 | g.49611193C>A | CA376718651 | CHAT,SLC18A3 | c.453C>A (p.Tyr151Ter) c.-69+1994C>A (n.-69+1994C>A) | |
| 10 | g.49611193C= | CA1908793117 | CHAT,SLC18A3 | c.453C= (p.Tyr151=) c.-69+1994C= (n.-69+1994C=) | |
| 10 | g.49611193C>G | CA376718648 | CHAT,SLC18A3 | c.453C>G (p.Tyr151Ter) c.-69+1994C>G (n.-69+1994C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611193C>T | CA469791418 | CHAT,SLC18A3 | c.453C>T (p.Tyr151=) c.-69+1994C>T (n.-69+1994C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611194G>A | CA376718654 | CHAT,SLC18A3 | c.454G>A (p.Asp152Asn) c.-69+1995G>A (n.-69+1995G>A) | |
| 10 | g.49611194G>C | CA376718657 | CHAT,SLC18A3 | c.454G>C (p.Asp152His) c.-69+1995G>C (n.-69+1995G>C) | |
| 10 | g.49611194G= | CA1908793121 | CHAT,SLC18A3 | c.454G= (p.Asp152=) c.-69+1995G= (n.-69+1995G=) | |
| 10 | g.49611194G>T | CA5496767 | CHAT,SLC18A3 | c.454G>T (p.Asp152Tyr) c.-69+1995G>T (n.-69+1995G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611195A>C | CA376718662 | CHAT,SLC18A3 | c.455A>C (p.Asp152Ala) c.-69+1996A>C (n.-69+1996A>C) | |
| 10 | g.49611195A>G | CA376718664 | CHAT,SLC18A3 | c.455A>G (p.Asp152Gly) c.-69+1996A>G (n.-69+1996A>G) | |
| 10 | g.49611195A>T | CA376718668 | CHAT,SLC18A3 | c.455A>T (p.Asp152Val) c.-69+1996A>T (n.-69+1996A>T) | |
| 10 | g.49611196C>A | CA376718671 | CHAT,SLC18A3 | c.456C>A (p.Asp152Glu) c.-69+1997C>A (n.-69+1997C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611196C= | CA1908793126 | CHAT,SLC18A3 | c.456C= (p.Asp152=) c.-69+1997C= (n.-69+1997C=) | |
| 10 | g.49611196C>G | CA376718674 | CHAT,SLC18A3 | c.456C>G (p.Asp152Glu) c.-69+1997C>G (n.-69+1997C>G) | gnomAD v4 |
| 10 | g.49611196C>T | CA469791428 | CHAT,SLC18A3 | c.456C>T (p.Asp152=) c.-69+1997C>T (n.-69+1997C>T) | COSMIC |
| 10 | g.49611197G>A | CA376718679 | CHAT,SLC18A3 | c.457G>A (p.Val153Met) c.-69+1998G>A (n.-69+1998G>A) | dbSNP gnomAD v4 |
| 10 | g.49611197G>C | CA376718682 | CHAT,SLC18A3 | c.457G>C (p.Val153Leu) c.-69+1998G>C (n.-69+1998G>C) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49611197G= | CA1908793134 | CHAT,SLC18A3 | c.457G= (p.Val153=) c.-69+1998G= (n.-69+1998G=) | |
| 10 | g.49611197G>T | CA376718685 | CHAT,SLC18A3 | c.457G>T (p.Val153Leu) c.-69+1998G>T (n.-69+1998G>T) | gnomAD v4 |
| 10 | g.49611198T>A | CA376718690 | CHAT,SLC18A3 | c.458T>A (p.Val153Glu) c.-69+1999T>A (n.-69+1999T>A) | |
| 10 | g.49611198T>C | CA376718693 | CHAT,SLC18A3 | c.458T>C (p.Val153Ala) c.-69+1999T>C (n.-69+1999T>C) | |
| 10 | g.49611198T>G | CA376718688 | CHAT,SLC18A3 | c.458T>G (p.Val153Gly) c.-69+1999T>G (n.-69+1999T>G) | |
| 10 | g.49611199G>A | CA469791439 | CHAT,SLC18A3 | c.459G>A (p.Val153=) c.-69+2000G>A (n.-69+2000G>A) | |
| 10 | g.49611199G>C | CA469791441 | CHAT,SLC18A3 | c.459G>C (p.Val153=) c.-69+2000G>C (n.-69+2000G>C) | |
| 10 | g.49611199G= | CA1908793136 | CHAT,SLC18A3 | c.459G= (p.Val153=) c.-69+2000G= (n.-69+2000G=) | |
| 10 | g.49611199G>T | CA5496768 | CHAT,SLC18A3 | c.459G>T (p.Val153=) c.-69+2000G>T (n.-69+2000G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611200C>A | CA376718698 | CHAT,SLC18A3 | c.460C>A (p.Pro154Thr) c.-69+2001C>A (n.-69+2001C>A) | |
| 10 | g.49611200C>G | CA376718700 | CHAT,SLC18A3 | c.460C>G (p.Pro154Ala) c.-69+2001C>G (n.-69+2001C>G) | |
| 10 | g.49611200C>T | CA376718703 | CHAT,SLC18A3 | c.460C>T (p.Pro154Ser) c.-69+2001C>T (n.-69+2001C>T) | |
| 10 | g.49611201del | CA2574545083 | CHAT,SLC18A3 | c.461del (p.Pro154ArgfsTer3) c.-69+2002del (n.-69+2002del) | |
| 10 | g.49611201C>A | CA376718711 | CHAT,SLC18A3 | c.461C>A (p.Pro154Gln) c.-69+2002C>A (n.-69+2002C>A) | dbSNP |
| 10 | g.49611201C= | CA1908793138 | CHAT,SLC18A3 | c.461C= (p.Pro154=) c.-69+2002C= (n.-69+2002C=) | |
| 10 | g.49611201C>G | CA376718714 | CHAT,SLC18A3 | c.461C>G (p.Pro154Arg) c.-69+2002C>G (n.-69+2002C>G) | |
| 10 | g.49611201C>T | CA376718717 | CHAT,SLC18A3 | c.461C>T (p.Pro154Leu) c.-69+2002C>T (n.-69+2002C>T) |